Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LAMC2	3918	broad.mit.edu	37	1	183212290	183212290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:183212290C>T	ENST00000264144.4	+	23	3402	c.3337C>T	c.(3337-3339)Ctc>Ttc	p.L1113F		NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1113	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGACCAGCCTCTCAGTGTAGA	0.483000													7	62					0	0	0.001984	0	0
SMR3A	26952	broad.mit.edu	37	4	71232569	71232569	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:71232569G>A	ENST00000226460.4	+	3	359	c.263G>A	c.(262-264)aGa>aAa	p.R88K		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	88	Pro-rich.					extracellular region		p.R88I(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GGTCCAGGGAGAATTCAATCA	0.552000													32	63					0	0	0.002836	0	0
RBM28	55131	broad.mit.edu	37	7	127953234	127953234	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:127953234G>A	ENST00000223073.1	-	18	2253	c.2139C>T	c.(2137-2139)tcC>tcT	p.S713S	RBM28_ENST00000481788.1_5'UTR|RBM28_ENST00000415472.2_Silent_p.S572S	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	713					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCACCTGCTCGGACGATAATT	0.473000													19	73					0	0	0.008871	0	0
APOL6	80830	broad.mit.edu	37	22	36055545	36055545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:36055545G>A	ENST00000409652.3	+	3	1210	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	312					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						TGGGACCTGCGAAACCGAGGC	0.512000													13	44					0	0	0.002450	0	0
UNC5B	219699	broad.mit.edu	37	10	73044576	73044576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:73044576C>T	ENST00000335350.6	+	3	820	c.404C>T	c.(403-405)tCc>tTc	p.S135F	UNC5B_ENST00000373192.4_Missense_Mutation_p.S135F	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	135	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCCTGGAGCTCCGCGGGCACC	0.677000													14	34					0	0	0.003163	0	0
POM121	9883	broad.mit.edu	37	7	72400635	72400635	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:72400635C>T	ENST00000395270.1	+	8	1507	c.466C>T	c.(466-468)Cga>Tga	p.R156*	POM121_ENST00000446813.1_Nonsense_Mutation_p.R156*|POM121_ENST00000358357.3_Nonsense_Mutation_p.R156*|POM121_ENST00000257622.4_Nonsense_Mutation_p.R156*|POM121_ENST00000434423.2_Nonsense_Mutation_p.R421*	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	421	Pore side (Potential).|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CAGCTCCACTCGAGGCATCTC	0.522000													38	156					0	0	0.007835	0	0
IL18RAP	8807	broad.mit.edu	37	2	103063616	103063616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:103063616G>A	ENST00000264260.2	+	10	1748	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	IL18RAP_ENST00000409369.1_Missense_Mutation_p.E245K	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	387					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GCACTGGATTGAAATAGTGCT	0.577000													8	113					0	0	0.006214	0	0
C17orf97	400566	broad.mit.edu	37	17	263309	263309	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:263309C>T	ENST00000360127.6	+	2	691	c.675C>T	c.(673-675)ttC>ttT	p.F225F	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	225	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TCAAGGGCTTCCACCCCGACC	0.701000													5	27					0	0	0.000602	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649655	20649655	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:20649655G>A	ENST00000428453.1	-	0	2543																		p.G618G(1)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CTCGGCCTAGGCCTGGAGGAG	0.557000													11	102					0	0	0.001855	0	0
PTPRD	5789	broad.mit.edu	37	9	8524997	8524997	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:8524997C>G	ENST00000381196.4	-	15	1150	c.607G>C	c.(607-609)Gga>Cga	p.G203R	PTPRD_ENST00000540109.1_Missense_Mutation_p.G203R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G200R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G194R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G203R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G203R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G203R|PTPRD_ENST00000397606.3_Missense_Mutation_p.G197R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G200R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G197R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G194R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	203	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCATATTTTCCTTGGTCAGAC	0.453000										TSP Lung(15;0.13)			14	119					0	0	0.003163	0	0
AMICA1	120425	broad.mit.edu	37	11	118083241	118083241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:118083241G>A	ENST00000292067.7	-	2	490	c.49C>T	c.(49-51)Ccg>Tcg	p.P17S	AMICA1_ENST00000356289.5_Missense_Mutation_p.P27S|AMICA1_ENST00000533261.1_Missense_Mutation_p.P27S|AMICA1_ENST00000526620.1_5'UTR	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	27					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGCTCAGGCGGGGAAACATTC	0.408000													5	25					0	0	0.001984	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88874650	88874650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:88874650G>A	ENST00000303236.3	-	13	2652	c.2351C>T	c.(2350-2352)tCc>tTc	p.S784F	EIF2AK3_ENST00000470706.1_Intron|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.S633F|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	784	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						AAGTTCAAAGGAGTGCCCCTC	0.458000													39	435					0	0	0.004289	0	0
SLC39A4	55630	broad.mit.edu	37	8	145640396	145640396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:145640396G>A	ENST00000276833.5	-	3	994	c.691C>T	c.(691-693)Ctc>Ttc	p.L231F	SLC39A4_ENST00000301305.3_Missense_Mutation_p.L256F	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	256						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GAGCTGATGAGGGGCACAGGG	0.667000													5	44					0	0	0.000602	0	0
SORCS3	22986	broad.mit.edu	37	10	107012575	107012575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:107012575C>T	ENST00000369701.3	+	23	3375	c.3148C>T	c.(3148-3150)Cct>Tct	p.P1050S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1050						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGCCGTGTTTCCTGGTCTCCC	0.512000													13	65					0	0	0.002450	0	0
LIMK1	3984	broad.mit.edu	37	7	73526306	73526306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:73526306C>T	ENST00000418310.1	+	12	1580	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F	LIMK1_ENST00000336180.2_Missense_Mutation_p.S463F|LIMK1_ENST00000538333.3_Missense_Mutation_p.S429F			P53667	LIMK1_HUMAN	LIM domain kinase 1	463	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				GACCTCAACTCCCACAACTGC	0.652000													5	52					0	0	0.001984	0	0
MYO1D	4642	broad.mit.edu	37	17	30932226	30932226	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:30932226G>A	ENST00000318217.5	-	21	3047	c.2743C>T	c.(2743-2745)Caa>Taa	p.Q915*	MYO1D_ENST00000579584.1_Nonsense_Mutation_p.Q915*|MYO1D_ENST00000394649.4_Nonsense_Mutation_p.Q827*	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	915						myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACTACAAGTTGGTCCTTTCCA	0.393000													5	23					0	0	0.000602	0	0
ZAN	7455	broad.mit.edu	37	7	100350649	100350649	+	RNA	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:100350649A>G	ENST00000542585.1	+	0	3069				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATCCCCACGGAAAAACTTACC	0.552000													9	46					0	0	0.006214	0	0
TAF5L	27097	broad.mit.edu	37	1	229738452	229738452	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:229738452C>G	ENST00000366675.3	-	4	550	c.462G>C	c.(460-462)aaG>aaC	p.K154N	TAF5L_ENST00000258281.2_Missense_Mutation_p.K154N|TAF5L_ENST00000366676.1_Missense_Mutation_p.K154N	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	154					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				ATGCTCGAAGCTTGAAGTTAG	0.473000													14	103					0	0	0.003163	0	0
AGAP7	653268	broad.mit.edu	37	10	51464844	51464844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:51464844C>T	ENST00000374095.5	-	7	1737	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	538	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TCCTTCTCTTCCCTCGTGGAC	0.567000													14	206					0	0	0.004990	0	0
DET1	55070	broad.mit.edu	37	15	89074761	89074761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:89074761G>A	ENST00000564406.1	-	3	369	c.209C>T	c.(208-210)cCt>cTt	p.P70L	DET1_ENST00000268148.8_Missense_Mutation_p.P59L|DET1_ENST00000558413.1_Intron|DET1_ENST00000444300.1_Missense_Mutation_p.P70L	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	59						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CAAGAAACAAGGAGGCTTTTC	0.478000													20	100					0	0	0.001523	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39085752	39085752	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:39085752G>A	ENST00000297668.6	-	21	3496	c.3423C>T	c.(3421-3423)ctC>ctT	p.L1141L	CNTNAP3_ENST00000377656.2_Silent_p.L1060L|CNTNAP3_ENST00000358144.2_3'UTR	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1141	Laminin G-like 4.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTCCCAATATGAGAGATTTGA	0.408000													16	108					0	0	0.004990	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553474	140553474	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140553474C>G	ENST00000231137.3	+	1	1232	c.1058C>G	c.(1057-1059)aCt>aGt	p.T353S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		353	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTTCACTTACTAGCCCAATT	0.488000													3	15					0	0	0.004672	0	0
GALNT8	26290	broad.mit.edu	37	12	4829879	4829879	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:4829879C>T	ENST00000252318.2	+	1	373	c.36C>T	c.(34-36)ttC>ttT	p.F12F	RP11-234B24.6_ENST00000544741.2_Intron	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	12						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AAGCCCTCTTCATTGGGCTGA	0.512000													8	51					0	0	0.008291	0	0
FCGR2A	2212	broad.mit.edu	37	1	161476213	161476213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:161476213C>T	ENST00000271450.6	+	3	234	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	FCGR2A_ENST00000367972.4_Missense_Mutation_p.R65C|FCGR2A_ENST00000467525.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	66	Ig-like C2-type 1.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCAGGGGGCTCGCAGCCCTGA	0.587000													13	48					0	0	0.001368	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255223	15255223	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:15255223G>A	ENST00000378116.4	-	8	2370	c.2364C>T	c.(2362-2364)ctC>ctT	p.L788L		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	788						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCAGGTACACGAGCTGCGTGT	0.607000													8	24					0	0	0.004482	0	0
RASD2	23551	broad.mit.edu	37	22	35947550	35947550	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:35947550G>A	ENST00000216127.4	+	3	914	c.271_splice	c.e3-1	p.G91_splice		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	91					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CTCCCTGCAGGGGATGTCTTC	0.587000													8	107					0	0	0.004482	0	0
ASPM	259266	broad.mit.edu	37	1	197071456	197071456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:197071456G>A	ENST00000367409.4	-	18	7181	c.6925C>T	c.(6925-6927)Ctt>Ttt	p.L2309F	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2309					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTACCTGAAGGAACTGTAAG	0.383000													7	79					0	0	0.001984	0	0
FRMPD2	143162	broad.mit.edu	37	10	49444536	49444536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:49444536C>T	ENST00000374201.3	-	9	1284	c.982G>A	c.(982-984)Gga>Aga	p.G328R	FRMPD2_ENST00000305531.3_Missense_Mutation_p.G304R|FRMPD2_ENST00000407470.4_Missense_Mutation_p.G297R	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	328					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ACAACCGATCCCGGCAGATGT	0.552000													4	40					0	0	0.000248	0	0
MRFAP1	93621	broad.mit.edu	37	4	6642901	6642901	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:6642901C>T	ENST00000320912.4	+	2	965	c.312C>T	c.(310-312)gcC>gcT	p.A104A	MRFAP1_ENST00000382581.4_Silent_p.A104A|MRFAP1_ENST00000507420.1_Silent_p.A104A	NM_001272053.1	NP_001258982.1	Q9Y605	MOFA1_HUMAN	Morf4 family associated protein 1	104						nucleus|perinuclear region of cytoplasm	protein binding			lung(1)	1						AGGAGAAGGCCAAGGAGATTG	0.682000													6	52					0	0	0.004482	0	0
RFPL1	5988	broad.mit.edu	37	22	29838060	29838060	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:29838060G>A	ENST00000354373.2	+	2	1112	c.903G>A	c.(901-903)gtG>gtA	p.V301V	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	301	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TCTGTCCTGTGATAAACCCGG	0.463000													6	61					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179605694	179605694	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179605694T>G	ENST00000589042.1	-	48	12490	c.12266A>C	c.(12265-12267)aAc>aCc	p.N4089T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N3726T|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N3918T|TTN_ENST00000359218.5_Missense_Mutation_p.N3851T|TTN_ENST00000591111.1_Missense_Mutation_p.N3772T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3772							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGTTGCTGGTTTTCTTCTGT	0.418000													10	68					0	0	0.006214	0	0
ADCY8	114	broad.mit.edu	37	8	131916206	131916206	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:131916206C>T	ENST00000286355.5	-	7	3815	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	ADCY8_ENST00000377928.3_Missense_Mutation_p.E575K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	575					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTCAGGAATTCATTCCTCTCT	0.463000										HNSCC(32;0.087)			12	145					0	0	0.001855	0	0
ZNF512B	57473	broad.mit.edu	37	20	62595509	62595509	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:62595509G>A	ENST00000450537.1	-	8	1455	c.1395C>T	c.(1393-1395)ggC>ggT	p.G465G	ZNF512B_ENST00000369888.1_Silent_p.G465G|ZNF512B_ENST00000217130.3_Silent_p.G465G			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGTCCTCAGGGCCTGGCCCCT	0.662000													11	100					0	0	0.000978	0	0
COL17A1	1308	broad.mit.edu	37	10	105800840	105800840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:105800840G>A	ENST00000353479.5	-	39	2974	c.2684C>T	c.(2683-2685)tCg>tTg	p.S895L	COL17A1_ENST00000369733.3_Missense_Mutation_p.S895L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	895	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGACAGGAACGATCCTGGTGG	0.587000													11	53					0	0	0.001855	0	0
SLC44A4	80736	broad.mit.edu	37	6	31833142	31833142	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:31833142G>A	ENST00000544672.1	-	17	1778	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	SLC44A4_ENST00000229729.6_Silent_p.F570F|SLC44A4_ENST00000375562.4_Silent_p.F528F	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	570						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CTGAGACACAGAAATTCTTCC	0.557000													48	404					0	0	0.003610	0	0
BRWD3	254065	broad.mit.edu	37	X	79932599	79932599	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:79932599G>A	ENST00000373275.4	-	41	5134	c.4918C>T	c.(4918-4920)Cat>Tat	p.H1640Y		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1640										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTATAATCATGGTCTCCATCT	0.403000													20	59					0	0	0.002299	0	0
PRKCH	5583	broad.mit.edu	37	14	62016441	62016441	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:62016441C>T	ENST00000332981.5	+	14	2329	c.1944C>T	c.(1942-1944)ttC>ttT	p.F648F	PRKCH_ENST00000555082.1_Silent_p.F487F|RP11-47I22.4_ENST00000556347.1_Intron|PRKCH_ENST00000556245.1_3'UTR	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	648	AGC-kinase C-terminal.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		ACCCTGACTTCATAAAGGAAG	0.398000													18	83					0	0	0.001523	0	0
NME8	51314	broad.mit.edu	37	7	37936490	37936490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:37936490G>A	ENST00000199447.4	+	17	1935	c.1563G>A	c.(1561-1563)atG>atA	p.M521I	NME8_ENST00000440017.1_Missense_Mutation_p.M521I|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	521	NDK 3.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CTATGGTCATGATTCTGACCA	0.488000													26	64					0	0	0.002096	0	0
FCRLB	127943	broad.mit.edu	37	1	161697269	161697269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:161697269C>T	ENST00000367946.3	+	6	967	c.953C>T	c.(952-954)cCc>cTc	p.P318L	FCRLB_ENST00000367948.2_Silent_p.A366A|FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000367945.1_Missense_Mutation_p.P311L|FCRLB_ENST00000392158.1_Silent_p.A366A|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367944.3_3'UTR			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	0						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CGGCTGGAGCCCTGAAACCCG	0.677000													6	59					0	0	0.004482	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24250804	24250804	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:24250804G>A	ENST00000538205.1	+	0	547				ADAMDEC1_ENST00000522298.1_De_novo_Start_InFrame|ADAMDEC1_ENST00000256412.4_Silent_p.Q79Q|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1						integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTCAATATCAGATGATCTTAA	0.303000													9	43					0	0	0.008291	0	0
TNR	7143	broad.mit.edu	37	1	175375790	175375790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:175375790G>A	ENST00000367674.1	-	3	769	c.61C>T	c.(61-63)Ctt>Ttt	p.L21F	TNR_ENST00000263525.2_Missense_Mutation_p.L21F	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	21					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GAGCCCAGAAGGATCAGGTTG	0.552000													4	96					0	0	0.000602	0	0
ELAVL3	1995	broad.mit.edu	37	19	11569322	11569322	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:11569322G>A	ENST00000359227.3	-	4	862	c.438C>T	c.(436-438)tcC>tcT	p.S146S	ELAVL3_ENST00000438662.2_Silent_p.S146S	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	146	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						GGCCGTACTGGGAGAAGAGCT	0.622000													9	63					0	0	0.006214	0	0
CSMD2	114784	broad.mit.edu	37	1	33987127	33987127	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:33987127G>A	ENST00000373381.4	-	68	10709	c.10533C>T	c.(10531-10533)gcC>gcT	p.A3511A		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3367						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGATGAAGGTGGCTCCGGAGG	0.577000													7	53					0	0	0.004482	0	0
CDH4	1002	broad.mit.edu	37	20	60448930	60448930	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:60448930A>C	ENST00000360469.5	+	7	1112	c.1024A>C	c.(1024-1026)Aca>Cca	p.T342P	CDH4_ENST00000543233.1_Missense_Mutation_p.T268P	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	342	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGATATCGTCACAGTGGCGGC	0.662000													5	52					0	0	0.000602	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145763161	145763161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:145763161G>A	ENST00000377307.2	-	6	2642	c.2558C>T	c.(2557-2559)aCt>aTt	p.T853I	ARHGAP39_ENST00000540274.1_Intron|ARHGAP39_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000276826.5_Intron	NM_025251.1	NP_079527.1	Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	840	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CTTCTTCTTAGTGTTTCTTTC	0.552000													6	63					0	0	0.003080	0	0
OR2L3	391192	broad.mit.edu	37	1	248224607	248224607	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248224607T>G	ENST00000359959.3	+	1	624	c.624T>G	c.(622-624)ttT>ttG	p.F208L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTCTCGTGTTTCCCTTCATTG	0.498000													4	104					0	0	0.000248	0	0
CEP112	201134	broad.mit.edu	37	17	64026062	64026062	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:64026062T>A	ENST00000392769.2	-	13	1516	c.1298A>T	c.(1297-1299)aAa>aTa	p.K433I	CEP112_ENST00000541355.1_Missense_Mutation_p.K68I|CEP112_ENST00000537949.1_Missense_Mutation_p.K391I|CEP112_ENST00000535342.2_Missense_Mutation_p.K433I	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	433						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TTGAATTAATTTCTGCCTCTG	0.383000													16	57					0	0	0.004007	0	0
TRBV27	28560	broad.mit.edu	37	7	142423605	142423605	+	RNA	SNP	A	A	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:142423605A>C	ENST00000506718.1	+	0	613				TRBV27_ENST00000390399.3_RNA																							AAGTCTCTCGAAAAGAGAAGA	0.507000													4	38					0	0	0.001168	0	0
OR7D2	162998	broad.mit.edu	37	19	9296893	9296893	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:9296893T>A	ENST00000344248.2	+	1	615	c.436T>A	c.(436-438)Ttt>Att	p.F146I		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	146					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CCTCCTGGTTTTTGTCACCTG	0.468000													30	88					0	0	0.002836	0	0
PCDHA11	56138	broad.mit.edu	37	5	140248978	140248978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140248978G>A	ENST00000398640.2	+	1	290	c.290G>A	c.(289-291)gGg>gAg	p.G97E	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGTGCGGGCAGAGCGCG	0.562000													21	172					0	0	0.001523	0	0
CHD9	80205	broad.mit.edu	37	16	53191228	53191228	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:53191228C>T	ENST00000566029.1	+	2	1436	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	CHD9_ENST00000564845.1_Silent_p.L409L|CHD9_ENST00000398510.3_Silent_p.L409L|CHD9_ENST00000447540.1_Silent_p.L409L			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	409					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CCGAGGACCTCCTTCAGGAGG	0.413000													4	13					0	0	0.000248	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170420	207170420	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:207170420G>A	ENST00000374423.3	+	5	1554	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	390							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCTTTGGAAGGAGGAGCAAAT	0.403000													7	22					0	0	0.001984	0	0
IGF2R	3482	broad.mit.edu	37	6	160430072	160430072	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:160430072C>A	ENST00000356956.1	+	3	468	c.320C>A	c.(319-321)tCt>tAt	p.S107Y		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	107					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GCAACCAGATCTCTCCTGGAA	0.443000													8	46					0.00307968	0.00347107	0.003080	1	0
KEL	3792	broad.mit.edu	37	7	142651411	142651411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:142651411C>T	ENST00000355265.2	-	8	1258	c.784G>A	c.(784-786)Gga>Aga	p.G262R	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	262					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGGTCTCCTCCCAGCAAGGTT	0.542000													9	65					0	0	0.006214	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24565552	24565552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:24565552C>T	ENST00000376862.3	+	3	1174	c.541C>T	c.(541-543)Cac>Tac	p.H181Y	SYNDIG1_ENST00000482637.1_3'UTR	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	181					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCCGCGGGACCACCTGGGCCT	0.572000													10	78					0	0	0.006214	0	0
NUP214	8021	broad.mit.edu	37	9	134067664	134067664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:134067664C>T	ENST00000359428.5	+	27	3788	c.3644C>T	c.(3643-3645)tCa>tTa	p.S1215L	NUP214_ENST00000483497.2_Missense_Mutation_p.S41L|RP11-544A12.8_ENST00000502188.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.S1216L|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000411637.2_Missense_Mutation_p.S1205L			P35658	NU214_HUMAN	nucleoporin 214kDa	1215	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AAGCCTTTCTCATTTTCTCCA	0.338000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								7	36					0	0	0.001984	0	0
MXRA5	25878	broad.mit.edu	37	X	3240451	3240451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:3240451G>A	ENST00000217939.6	-	5	3429	c.3275C>T	c.(3274-3276)tCc>tTc	p.S1092F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1092						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAAAGTGATGGATTTGCTCTC	0.493000													6	32					0	0	0.001168	0	0
ELMO1	9844	broad.mit.edu	37	7	36917698	36917698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:36917698G>A	ENST00000310758.4	-	19	2386	c.1739C>T	c.(1738-1740)tCg>tTg	p.S580L	ELMO1_ENST00000448602.1_Missense_Mutation_p.S580L|ELMO1_ENST00000341056.3_Missense_Mutation_p.S282L|ELMO1_ENST00000396045.3_Missense_Mutation_p.S100L|ELMO1_ENST00000442504.1_Missense_Mutation_p.S580L|ELMO1_ENST00000396040.2_Missense_Mutation_p.S100L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	580	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GTGATTTGGCGAAAGCCGACA	0.418000													6	37					0	0	0.003080	0	0
SERPINB9	5272	broad.mit.edu	37	6	2893707	2893707	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:2893707C>T	ENST00000380698.4	-	5	594	c.505G>A	c.(505-507)Gga>Aga	p.G169R		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	169					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TTCCACTTTCCTTTGAAGTAG	0.403000													11	114					0	0	0.008291	0	0
HDC	3067	broad.mit.edu	37	15	50534753	50534753	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:50534753G>A	ENST00000267845.3	-	12	2095	c.1693C>T	c.(1693-1695)Ctg>Ttg	p.L565L	HDC_ENST00000543581.1_Silent_p.L532L	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	565					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AAGGAGGACAGCTTGTGCTTG	0.527000													6	107					0	0	0.001168	0	0
LRCH1	23143	broad.mit.edu	37	13	47315891	47315891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:47315891C>T	ENST00000389798.3	+	19	2292	c.2095C>T	c.(2095-2097)Cgc>Tgc	p.R699C	LRCH1_ENST00000389797.3_Missense_Mutation_p.R734C|LRCH1_ENST00000311191.6_Intron	NM_015116.2	NP_055931.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	699										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TTCTGCCCTCCGCTCCAGGGA	0.498000													22	251					0	0	0.002299	0	0
NFASC	23114	broad.mit.edu	37	1	204924007	204924007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:204924007G>A	ENST00000367172.4	+	7	791	c.463G>A	c.(463-465)Ggc>Agc	p.G155S	NFASC_ENST00000404076.1_Missense_Mutation_p.G149S|NFASC_ENST00000539706.1_Missense_Mutation_p.G149S|NFASC_ENST00000403080.1_Missense_Mutation_p.G155S|NFASC_ENST00000338515.6_Missense_Mutation_p.G155S|NFASC_ENST00000513543.1_Missense_Mutation_p.G149S|NFASC_ENST00000367171.4_Missense_Mutation_p.G155S|NFASC_ENST00000339876.6_Missense_Mutation_p.G155S|NFASC_ENST00000367169.4_Missense_Mutation_p.G155S|NFASC_ENST00000360049.4_Missense_Mutation_p.G149S|NFASC_ENST00000404907.1_Missense_Mutation_p.G149S|NFASC_ENST00000401399.1_Missense_Mutation_p.G155S|NFASC_ENST00000367170.4_Missense_Mutation_p.G155S|NFASC_ENST00000338586.6_Missense_Mutation_p.G155S			O94856	NFASC_HUMAN	neurofascin	155	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGTCCAAGAGGGCGCTCCTTT	0.582000													38	101					0	0	0.006999	0	0
COLEC12	81035	broad.mit.edu	37	18	335158	335158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:335158C>T	ENST00000400256.3	-	6	1607	c.1400G>A	c.(1399-1401)gGa>gAa	p.G467E		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	467	Collagen-like 1.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCCTTTCTGTCCCTTGTTGCC	0.622000													17	60					0	0	0.004990	0	0
MYH4	4622	broad.mit.edu	37	17	10369992	10369992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10369992C>T	ENST00000255381.2	-	3	181	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	24	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGCTTCAATTCGCTCCTTTTC	0.498000													9	93					0	0	0.004482	0	0
ZFAND3	60685	broad.mit.edu	37	6	38029438	38029438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:38029438C>T	ENST00000287218.4	+	3	629	c.182C>T	c.(181-183)tCc>tTc	p.S61F	ZFAND3_ENST00000373391.2_Missense_Mutation_p.S61F	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	61							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						GATTTGTTTTCCGAAGAGACC	0.433000													5	45					0	0	0.000602	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215316	140215316	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140215316G>A	ENST00000525929.1	+	1	1348	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.D450N|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACGTGAACGACAACGCCCC	0.667000													8	50					0	0	0.003080	0	0
SYNE1	23345	broad.mit.edu	37	6	152832177	152832177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:152832177C>T	ENST00000367255.5	-	7	972	c.371G>A	c.(370-372)gGa>gAa	p.G124E	SYNE1_ENST00000367248.3_Missense_Mutation_p.G131E|SYNE1_ENST00000341594.5_Missense_Mutation_p.G124E|SYNE1_ENST00000367253.4_Missense_Mutation_p.G124E|SYNE1_ENST00000265368.4_Missense_Mutation_p.G124E|SYNE1_ENST00000423061.1_Missense_Mutation_p.G131E|SYNE1_ENST00000413186.2_Missense_Mutation_p.G124E|SYNE1_ENST00000466159.2_Missense_Mutation_p.G124E|SYNE1_ENST00000448038.1_Missense_Mutation_p.G131E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	124	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCACATCAATCCAAGAACTAT	0.373000										HNSCC(10;0.0054)			17	157					0	0	0.001523	0	0
MMP12	4321	broad.mit.edu	37	11	102734972	102734972	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:102734972C>T	ENST00000532855.1	-	0	1312							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	CATCTGTCTCCTTTCATCATA	0.438000													5	18					0	0	0.000602	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227387341	227387341	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:227387341G>A	ENST00000366769.3	-	4	1658	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R123C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R123C	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	123	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R123C(2)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTTTCTTCACGAAAACATGCT	0.284000													5	58					0	0	0.001168	0	0
WWP1	11059	broad.mit.edu	37	8	87393068	87393068	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:87393068C>T	ENST00000517970.1	+	4	491	c.184C>T	c.(184-186)Cca>Tca	p.P62S	WWP1_ENST00000265428.4_Missense_Mutation_p.P62S|WWP1_ENST00000341922.2_Missense_Mutation_p.P62S|WWP1_ENST00000523863.1_3'UTR|WWP1_ENST00000349423.2_Intron	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	62	C2.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TTCTTCTAATCCAAAATGGGA	0.323000													4	19					0	0	0.000248	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399265	22399265	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:22399265G>A	ENST00000263160.3	+	12	2165	c.1728G>A	c.(1726-1728)aaG>aaA	p.K576K		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	576					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ATAGCTATAAGGACCGAGTTG	0.353000													3	9					0	0	0.004672	0	0
MYH4	4622	broad.mit.edu	37	17	10355546	10355546	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10355546G>A	ENST00000255381.2	-	27	3560	c.3450C>T	c.(3448-3450)atC>atT	p.I1150I	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1150					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCTCTCACTGATCTCCTCCA	0.612000													21	103					0	0	0.003330	0	0
HSF2BP	11077	broad.mit.edu	37	21	44949752	44949752	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:44949752A>T	ENST00000291560.2	-	9	1218	c.887T>A	c.(886-888)tTc>tAc	p.F296Y	HSF2BP_ENST00000542962.1_Missense_Mutation_p.F221Y	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	296					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GGAGCTCCGGAACTCAGAGGC	0.582000													5	61					0	0	0.001984	0	0
HAS2	3037	broad.mit.edu	37	8	122626662	122626662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:122626662G>A	ENST00000303924.4	-	4	1883	c.1346C>T	c.(1345-1347)cCc>cTc	p.P449L		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	449						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CATCTTGGCGGGAAGTAAACT	0.408000													45	76					0	0	0.002522	0	0
TEX12	56158	broad.mit.edu	37	11	112041209	112041209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:112041209C>T	ENST00000280358.4	+	3	263	c.131C>T	c.(130-132)tCc>tTc	p.S44F	SDHD_ENST00000532699.1_Missense_Mutation_p.P128S|TEX12_ENST00000530752.1_Missense_Mutation_p.S44F|RP11-356J5.4_ENST00000527589.1_RNA	NM_031275.4	NP_112565.1	Q9BXU0	TEX12_HUMAN	testis expressed 12	44										endometrium(1)|large_intestine(2)|lung(1)	4		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		TCTGAAATTTCCGGACTATTT	0.343000													11	37					0	0	0.008291	0	0
PILRA	29992	broad.mit.edu	37	7	99972025	99972025	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:99972025C>T	ENST00000198536.2	+	2	635	c.423C>T	c.(421-423)tcC>tcT	p.S141S	PILRA_ENST00000453419.1_Silent_p.S141S|PILRA_ENST00000474013.1_3'UTR|PILRA_ENST00000350573.2_Silent_p.S141S|PILRA_ENST00000394000.2_Silent_p.S141S	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	141	Ig-like V-type.				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTGGCAGTCCATCGAGGGGA	0.587000													18	78					0	0	0.008871	0	0
ABCB5	340273	broad.mit.edu	37	7	20738148	20738148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:20738148C>T	ENST00000404938.2	+	17	2781	c.2129C>T	c.(2128-2130)tCc>tTc	p.S710F	ABCB5_ENST00000258738.6_Missense_Mutation_p.S265F	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	265	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CCAGTATTTTCCATCATCTTT	0.323000													5	29					0	0	0.000602	0	0
GPR133	283383	broad.mit.edu	37	12	131451070	131451070	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:131451070G>A	ENST00000261654.5	+	3	725	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	GPR133_ENST00000535015.1_Missense_Mutation_p.E56K	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	56					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGGGATCCATGAACTTCAGGA	0.517000													14	46					0	0	0.008871	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907509	12907509	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:12907509C>T	ENST00000317869.6	-	2	859	c.634G>A	c.(634-636)Gag>Aag	p.E212K		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ACCTCTACCTCTTGTTTGCTC	0.448000													10	98					0	0	0.001368	0	0
KRTAP19-5	337972	broad.mit.edu	37	21	31874269	31874269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:31874269C>T	ENST00000334151.2	-	1	166	c.140G>A	c.(139-141)gGc>gAc	p.G47D		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	47						intermediate filament	protein binding			endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						GAAGCCAGAGCCGTATCCGTA	0.552000													7	70					0	0	0.003080	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390410	61390410	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:61390410G>A	ENST00000544088.1	+	0	1018				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GATCTTTCTGGAATGTCACCA	0.478000													5	13					0	0	0.000602	0	0
TMC3	342125	broad.mit.edu	37	15	81644161	81644161	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:81644161C>T	ENST00000558726.1	-	10	1092	c.957G>A	c.(955-957)agG>agA	p.R319R	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Silent_p.R319R|RP11-761I4.3_ENST00000560851.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	319						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGGCAATAATCCTCAGGCAGA	0.537000													4	8					0	0	0.000248	0	0
TRRAP	8295	broad.mit.edu	37	7	98507905	98507905	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:98507905C>T	ENST00000359863.4	+	15	1786	c.1577C>T	c.(1576-1578)cCc>cTc	p.P526L	TRRAP_ENST00000355540.3_Missense_Mutation_p.P526L|TRRAP_ENST00000446306.3_Missense_Mutation_p.P526L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	526	Pro-rich.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCGTGCCTCCCTTCGAGAAG	0.627000													6	28					0	0	0.001168	0	0
OR2A5	393046	broad.mit.edu	37	7	143747706	143747706	+	Missense_Mutation	SNP	C	C	T	rs149614119	by1000genomes	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:143747706C>T	ENST00000408906.2	+	1	246	c.212C>T	c.(211-213)tCg>tTg	p.S71L		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S71L(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ATTGATATTTCGTATGCTTCC	0.483000													9	50					0	0	0.008291	0	0
LAMB3	3914	broad.mit.edu	37	1	209796444	209796444	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:209796444G>A	ENST00000391911.1	-	16	2828	c.2439C>T	c.(2437-2439)gcC>gcT	p.A813A	LAMB3_ENST00000356082.4_Silent_p.A813A|LAMB3_ENST00000367030.3_Silent_p.A813A	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	813	Domain alpha.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGGAGCCACAGGCTGTGCCAT	0.637000													12	49					0	0	0.001368	0	0
FCAR	2204	broad.mit.edu	37	19	55399440	55399440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55399440C>T	ENST00000355524.3	+	4	438	c.428C>T	c.(427-429)tCc>tTc	p.S143F	FCAR_ENST00000391725.3_Missense_Mutation_p.S143F|FCAR_ENST00000391723.3_Missense_Mutation_p.S131F|FCAR_ENST00000359272.4_Missense_Mutation_p.S131F|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000391724.3_Missense_Mutation_p.S131F|FCAR_ENST00000353758.4_Missense_Mutation_p.S34F|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000469767.1_Missense_Mutation_p.S143F	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	143	Ig-like C2-type 2.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GAGAATATTTCCCTCACGTGC	0.507000													13	32					0	0	0.003163	0	0
SEMA7A	8482	broad.mit.edu	37	15	74709735	74709735	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:74709735G>A	ENST00000261918.4	-	6	1150	c.602C>T	c.(601-603)cCt>cTt	p.P201L	SEMA7A_ENST00000543145.2_Missense_Mutation_p.P187L|SEMA7A_ENST00000542748.1_Missense_Mutation_p.P36L	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	201	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GCGGAACCGAGGGATCTTCCC	0.602000													14	61					0	0	0.001855	0	0
ZFR	51663	broad.mit.edu	37	5	32387754	32387754	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:32387754G>A	ENST00000265069.8	-	14	2502	c.2400C>T	c.(2398-2400)ctC>ctT	p.L800L		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	800	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TATCTCCTCGGAGAAGTAATC	0.383000													8	61					0	0	0.006214	0	0
ADH1A	124	broad.mit.edu	37	4	100203562	100203562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:100203562C>T	ENST00000209668.2	-	6	882	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	257					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TCAGTCATTTCCTTTAGCACC	0.463000													67	253					0	0	0.003610	0	0
MYO9B	4650	broad.mit.edu	37	19	17308652	17308652	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:17308652C>T	ENST00000595618.1	+	23	4250	c.4098C>T	c.(4096-4098)tcC>tcT	p.S1366S	MYO9B_ENST00000397274.2_Silent_p.S1366S|MYO9B_ENST00000594824.1_Silent_p.S1366S	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1366	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TCCTCCCGTCCCTGGCCAAGG	0.552000													8	53					0	0	0.001368	0	0
CATSPERB	79820	broad.mit.edu	37	14	92083984	92083984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:92083984C>T	ENST00000256343.3	-	20	2513	c.2357G>A	c.(2356-2358)aGt>aAt	p.S786N		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	786					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TATTACATAACTGTCAGTATC	0.323000													6	33					0	0	0.001168	0	0
VWA9	81556	broad.mit.edu	37	15	65891312	65891312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:65891312G>A	ENST00000395644.4	-	5	838	c.503C>T	c.(502-504)tCc>tTc	p.S168F	VWA9_ENST00000431261.2_Missense_Mutation_p.S89F|VWA9_ENST00000420799.2_Missense_Mutation_p.S111F|VWA9_ENST00000569491.1_Missense_Mutation_p.S119F|VWA9_ENST00000567744.1_Missense_Mutation_p.S204F|VWA9_ENST00000313182.2_Missense_Mutation_p.S168F|VWA9_ENST00000442903.3_Missense_Mutation_p.S132F					von Willebrand factor A domain containing 9																		GCATTCCAAGGAATCGGTGCT	0.428000													11	47					0	0	0.000978	0	0
MYH8	4626	broad.mit.edu	37	17	10322009	10322009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10322009G>A	ENST00000403437.2	-	5	558	c.464C>T	c.(463-465)cCc>cTc	p.P155L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	155	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GAAGATGTGGGGCGGGGCCTC	0.522000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				9	123					0	0	0.006214	0	0
CACNA1D	776	broad.mit.edu	37	3	53757872	53757872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:53757872C>T	ENST00000288139.3	+	15	2124	c.2006C>T	c.(2005-2007)tCc>tTc	p.S669F	CACNA1D_ENST00000350061.5_Missense_Mutation_p.S649F|CACNA1D_ENST00000422281.2_Missense_Mutation_p.S649F	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	649					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCCATGAAGTCCATCGCTTCG	0.448000													6	82					0	0	0.001168	0	0
CFHR2	3080	broad.mit.edu	37	1	196928040	196928040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:196928040G>A	ENST00000367415.4	+	5	757	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.E215K	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	215	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AGAAATTATGGAAAAATATAA	0.284000													4	28					0	0	0.000248	0	0
PRKCB	5579	broad.mit.edu	37	16	24166021	24166021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:24166021G>A	ENST00000303531.7	+	10	1234	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	PRKCB_ENST00000321728.7_Missense_Mutation_p.R361Q	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	361	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CTTTCAGAACGAAAAGGCACA	0.507000													10	27					0	0	0.000978	0	0
CEP350	9857	broad.mit.edu	37	1	179989791	179989791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:179989791C>T	ENST00000367607.3	+	12	3300	c.2882C>T	c.(2881-2883)tCt>tTt	p.S961F		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	961						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCTTCTAGCTCTGATATGCAA	0.473000													11	116					0	0	0.008291	0	0
ETV4	2118	broad.mit.edu	37	17	41610701	41610701	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:41610701G>A	ENST00000319349.5	-	7	697	c.399C>T	c.(397-399)ccC>ccT	p.P133P	ETV4_ENST00000545089.1_Intron|ETV4_ENST00000545954.1_Silent_p.P94P|ETV4_ENST00000393664.2_Silent_p.P133P|ETV4_ENST00000538265.1_Silent_p.P94P|ETV4_ENST00000591713.1_Silent_p.P133P	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	133					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		CGATTTGTCTGGGGGGGTCAT	0.577000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								4	31					0	0	0.000602	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1969363	1969363	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:1969363G>A	ENST00000382722.5	-	19	2250	c.1888C>T	c.(1888-1890)Ctt>Ttt	p.L630F	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.L566F|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.L630F|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.L605F|CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.L491F|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.L566F	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	630						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTCAGGAAAAGAACTCGCTTC	0.547000													3	16					0	0	0.000602	0	0
EVPL	2125	broad.mit.edu	37	17	74004797	74004797	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:74004797G>A	ENST00000301607.3	-	22	4742	c.4489C>T	c.(4489-4491)Cgg>Tgg	p.R1497W	EVPL_ENST00000586740.1_Missense_Mutation_p.R1519W	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1497	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TTGCACTCCCGATTCAGCTCG	0.582000													27	81					0	0	0.008361	0	0
MAP3K4	4216	broad.mit.edu	37	6	161508729	161508729	+	Missense_Mutation	SNP	C	C	T	rs143918593		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:161508729C>T	ENST00000392142.4	+	10	2714	c.2566C>T	c.(2566-2568)Cct>Tct	p.P856S	MAP3K4_ENST00000348824.7_Missense_Mutation_p.P856S|MAP3K4_ENST00000366920.2_Missense_Mutation_p.P856S|MAP3K4_ENST00000366919.2_Missense_Mutation_p.P856S	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	856					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGTGCAAATTCCTGGGTTAGA	0.383000													9	45					0	0	0.004482	0	0
USH2A	7399	broad.mit.edu	37	1	215848419	215848419	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:215848419G>A	ENST00000366943.2	-	63	13220	c.12834C>T	c.(12832-12834)ccC>ccT	p.P4278P	USH2A_ENST00000307340.3_Silent_p.P4278P			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4278	Fibronectin type-III 28.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P4278P(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCAGTTTTTGGGgattcatag	0.448000										HNSCC(13;0.011)			14	32					0	0	0.002450	0	0
MYOCD	93649	broad.mit.edu	37	17	12647610	12647610	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:12647610G>A	ENST00000425538.1	+	8	1028	c.828G>A	c.(826-828)gaG>gaA	p.E276E	MYOCD_ENST00000395988.1_Silent_p.E180E|MYOCD_ENST00000343344.4_Silent_p.E276E	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	276					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGAAGGCAGAGAAGTCCCCTC	0.557000													4	31					0	0	0.000602	0	0
TSC2	7249	broad.mit.edu	37	16	2130177	2130177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:2130177C>T	ENST00000219476.3	+	30	4039	c.3409C>T	c.(3409-3411)Ctt>Ttt	p.L1137F	TSC2_ENST00000401874.2_Missense_Mutation_p.L1093F|TSC2_ENST00000568454.1_Missense_Mutation_p.L1104F|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000353929.4_Missense_Mutation_p.L1094F|TSC2_ENST00000350773.4_Missense_Mutation_p.L1137F|TSC2_ENST00000382538.6_Missense_Mutation_p.L1045F|TSC2_ENST00000439673.2_Missense_Mutation_p.L1057F	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1137					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGGCCATGGTCTTCGAGTTGG	0.627000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				34	91					0	0	0.006230	0	0
DHX8	1659	broad.mit.edu	37	17	41584468	41584468	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:41584468C>T	ENST00000262415.3	+	13	1898	c.1826C>T	c.(1825-1827)tCc>tTc	p.S609F	DHX8_ENST00000540306.1_Missense_Mutation_p.S609F	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	609	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGCTACACTTCCAGGGGCAAG	0.532000													16	69					0	0	0.008871	0	0
SAMD9	54809	broad.mit.edu	37	7	92730707	92730707	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:92730707C>T	ENST00000379958.2	-	3	4973	c.4704G>A	c.(4702-4704)gaG>gaA	p.E1568E		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1568						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAGACACCTTCTCTATGCTTC	0.358000													8	108					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9060102	9060102	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:9060102G>A	ENST00000397910.4	-	3	27547	c.27344C>T	c.(27343-27345)tCa>tTa	p.S9115L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9117	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGAGTGTGAAAATCCTTG	0.498000													5	38					0	0	0.001984	0	0
PALMD	54873	broad.mit.edu	37	1	100152287	100152287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:100152287G>A	ENST00000263174.4	+	4	682	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	PALMD_ENST00000605497.1_Missense_Mutation_p.E103K	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	103					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CTCAACGAAGGAAGAGGCCAT	0.338000													11	126					0	0	0.000978	0	0
ELAVL4	1996	broad.mit.edu	37	1	50661331	50661331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:50661331G>A	ENST00000371824.1	+	5	864	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	ELAVL4_ENST00000448907.2_Missense_Mutation_p.E206K|ELAVL4_ENST00000371819.1_Missense_Mutation_p.E208K|ELAVL4_ENST00000371827.1_Missense_Mutation_p.E203K|ELAVL4_ENST00000371823.4_Missense_Mutation_p.E203K|ELAVL4_ENST00000371821.1_Missense_Mutation_p.E208K|ELAVL4_ENST00000357083.4_Missense_Mutation_p.E220K			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	203	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CGGTGCTACGGAACCGATTAC	0.582000													7	68					0	0	0.001984	0	0
PCDH15	65217	broad.mit.edu	37	10	55955517	55955517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:55955517C>T	ENST00000373965.2	-	11	1625	c.1231G>A	c.(1231-1233)Gga>Aga	p.G411R	PCDH15_ENST00000373957.3_Missense_Mutation_p.G389R|PCDH15_ENST00000373955.1_Missense_Mutation_p.G411R|PCDH15_ENST00000395430.1_Missense_Mutation_p.G411R|PCDH15_ENST00000409834.1_Missense_Mutation_p.G15R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G411R|PCDH15_ENST00000395438.1_Missense_Mutation_p.G411R|PCDH15_ENST00000395440.1_Missense_Mutation_p.G411R|PCDH15_ENST00000395446.1_Missense_Mutation_p.G411R|PCDH15_ENST00000395432.2_Missense_Mutation_p.G374R|PCDH15_ENST00000395433.1_Missense_Mutation_p.G389R|PCDH15_ENST00000361849.3_Missense_Mutation_p.G411R|PCDH15_ENST00000395445.1_Missense_Mutation_p.G411R|PCDH15_ENST00000414778.1_Missense_Mutation_p.G416R|PCDH15_ENST00000437009.1_Missense_Mutation_p.G411R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	411	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATGGTTGCTCCCACTGGGGCA	0.388000										HNSCC(58;0.16)			6	55					0	0	0.001168	0	0
OR1D2	4991	broad.mit.edu	37	17	2996057	2996057	+	Silent	SNP	G	G	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:2996057G>T	ENST00000331459.1	-	1	233	c.234C>A	c.(232-234)atC>atA	p.I78I		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	78					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GCATCTTGGGGATTGTGTTGG	0.547000													17	126					2.94398e-08	3.33981e-08	0.007413	1	0
FLT1	2321	broad.mit.edu	37	13	29004277	29004277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:29004277C>T	ENST00000282397.4	-	8	1267	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	FLT1_ENST00000539099.1_Missense_Mutation_p.R339Q|FLT1_ENST00000541932.1_Missense_Mutation_p.R339Q	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	339	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CTGCTGTTTTCGATGTTTCAC	0.423000													4	50					0	0	0.000248	0	0
WSCD2	9671	broad.mit.edu	37	12	108589902	108589902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:108589902G>A	ENST00000332082.4	+	3	1111	c.293G>A	c.(292-294)gGg>gAg	p.G98E	WSCD2_ENST00000549903.1_Missense_Mutation_p.G98E|WSCD2_ENST00000261400.3_Missense_Mutation_p.G98E|WSCD2_ENST00000547525.1_Missense_Mutation_p.G98E			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	98						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGCAAGGATGGGAATGAGAGA	0.597000													11	52					0	0	0.000978	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166152	140166152	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140166152G>A	ENST00000504120.2	+	1	277	c.277G>A	c.(277-279)Gag>Aag	p.E93K	PCDHA1_ENST00000394633.3_Missense_Mutation_p.E93K|PCDHA1_ENST00000378133.3_Missense_Mutation_p.E93K	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCGATCGCGAGGAGCTGTG	0.562000													7	53					0	0	0.004482	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47366085	47366085	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:47366085C>T	ENST00000505841.1	-	0	24					NR_002788.2																						GCCATGAGTTCCTGAAGCCAG	0.537000													6	14					0	0	0.001168	0	0
SLC8A1	6546	broad.mit.edu	37	2	40387911	40387911	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:40387911T>C	ENST00000406785.1	-	6	2344	c.2155A>G	c.(2155-2157)Agt>Ggt	p.S719G	SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.S750G|SLC8A1_ENST00000542024.1_Missense_Mutation_p.S719G|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.S747G|SLC8A1_ENST00000406391.2_Missense_Mutation_p.S719G|SLC8A1_ENST00000405901.3_Missense_Mutation_p.S750G|SLC8A1_ENST00000405269.1_Missense_Mutation_p.S719G|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.S755G|SLC8A1_ENST00000402441.1_Missense_Mutation_p.S719G|SLC8A1_ENST00000332839.4_Missense_Mutation_p.S755G|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	755					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCACCAGCACTGACAGTGATA	0.428000													9	69					0	0	0.008291	0	0
PROZ	8858	broad.mit.edu	37	13	113814380	113814380	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:113814380G>A	ENST00000342783.4	+	3	196	c.189G>A	c.(187-189)gcG>gcA	p.A63A	PROZ_ENST00000375547.2_Silent_p.A41A	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	41	Gla.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	GGAAGCGTGCGGGCTCCTATC	0.488000													11	123					0	0	0.008291	0	0
EGFLAM	133584	broad.mit.edu	37	5	38463998	38463998	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:38463998C>T	ENST00000322350.5	+	22	3286	c.2940C>T	c.(2938-2940)atC>atT	p.I980I	EGFLAM_ENST00000514476.1_Silent_p.I123I|EGFLAM_ENST00000506135.1_Silent_p.I123I|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000354891.3_Silent_p.I988I|EGFLAM_ENST00000397210.3_Silent_p.I123I|EGFLAM_ENST00000397202.2_Silent_p.I346I|EGFLAM_ENST00000336740.6_Silent_p.I746I	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	988	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGGGCTGTATCTCTCACTTCA	0.507000													8	31					0	0	0.006214	0	0
NOTCH4	4855	broad.mit.edu	37	6	32185774	32185774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:32185774G>A	ENST00000375023.3	-	9	1760	c.1622C>T	c.(1621-1623)cCt>cTt	p.P541L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	541	EGF-like 13; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTACTCACCAGGCAGGCAGAT	0.597000													14	206					0	0	0.004007	0	0
DSG1	1828	broad.mit.edu	37	18	28934476	28934476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:28934476C>T	ENST00000257192.4	+	15	2529	c.2317C>T	c.(2317-2319)Cct>Tct	p.P773S	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.P132S	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	773					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGACCTTGATCCTTCTTGGCC	0.488000													7	71					0	0	0.003080	0	0
KRT37	8688	broad.mit.edu	37	17	39580692	39580692	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:39580692G>A	ENST00000225550.3	-	1	83	c.84C>T	c.(82-84)atC>atT	p.I28I	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	28	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				ACCCAACATCGATAGGAGAGA	0.592000													7	50					0	0	0.001984	0	0
AP1M2	10053	broad.mit.edu	37	19	10694304	10694304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:10694304G>A	ENST00000590923.1	-	3	328	c.245C>T	c.(244-246)tCc>tTc	p.S82F	AP1M2_ENST00000250244.6_Missense_Mutation_p.S82F			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	82					cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			ATACAGGAAGGAGTACACCAG	0.483000													10	78					0	0	0.008291	0	0
DSP	1832	broad.mit.edu	37	6	7580796	7580796	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:7580796G>A	ENST00000379802.3	+	23	4714	c.4373G>A	c.(4372-4374)cGa>cAa	p.R1458Q	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1458	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACTCAGATGCGAACAGAGGAG	0.463000													5	60					0	0	0.000602	0	0
CCDC3	83643	broad.mit.edu	37	10	12940522	12940522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:12940522C>T	ENST00000378839.1	-	7	1284	c.332G>A	c.(331-333)cGc>cAc	p.R111H	CCDC3_ENST00000378825.3_Missense_Mutation_p.R236H			Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	236						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CTCCAGGTGGCGGCCCTTCTT	0.682000													6	78					0	0	0.003080	0	0
ITGA10	8515	broad.mit.edu	37	1	145535801	145535801	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:145535801G>A	ENST00000369304.3	+	16	2164	c.1989G>A	c.(1987-1989)caG>caA	p.Q663Q	ITGA10_ENST00000538811.1_Silent_p.Q532Q|ITGA10_ENST00000539363.1_Silent_p.Q520Q	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	663					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGTGGTTCAGAGGGACTGTA	0.567000													6	72					0	0	0.001984	0	0
EFCAB7	84455	broad.mit.edu	37	1	64038177	64038177	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:64038177T>C	ENST00000371088.4	+	14	2126	c.1880T>C	c.(1879-1881)cTt>cCt	p.L627P	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	627							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						ATATATTCTCTTATTTCTTAA	0.254000													3	12					0	0	0.000248	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178541047	178541047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:178541047C>T	ENST00000251582.7	-	22	3558	c.3457G>A	c.(3457-3459)Gag>Aag	p.E1153K		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1153					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGGTGATCCTCTGTGGCATTG	0.587000													10	92					0	0	0.006214	0	0
CDC5L	988	broad.mit.edu	37	6	44387332	44387332	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:44387332C>T	ENST00000371477.3	+	9	1538	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	413	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTACTCCATTCAGGTATTGTA	0.368000													7	60					0	0	0.001984	0	0
SDK1	221935	broad.mit.edu	37	7	4215446	4215446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:4215446C>T	ENST00000404826.2	+	34	5115	c.4976C>T	c.(4975-4977)tCg>tTg	p.S1659L	SDK1_ENST00000389531.3_Intron	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1659	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGCTCCACATCGACGATGTGT	0.587000													6	59					0	0	0.001984	0	0
TMTC3	160418	broad.mit.edu	37	12	88588803	88588803	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:88588803C>T	ENST00000266712.6	+	14	2342	c.2122C>T	c.(2122-2124)Ctg>Ttg	p.L708L		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	709						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TTTGTTTAATCTGGCTCTCCT	0.423000													8	24					0	0	0.003080	0	0
PHF3	23469	broad.mit.edu	37	6	64395139	64395139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:64395139C>T	ENST00000262043.3	+	4	1856	c.1516C>T	c.(1516-1518)Ccg>Tcg	p.P506S	PHF3_ENST00000393387.1_Missense_Mutation_p.P506S|PHF3_ENST00000509330.1_Missense_Mutation_p.P506S			Q92576	PHF3_HUMAN	PHD finger protein 3	506					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CACAGATGCTCCGAAGAAAAT	0.348000													4	38					0	0	0.000602	0	0
KCNF1	3754	broad.mit.edu	37	2	11053632	11053632	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:11053632C>T	ENST00000295082.1	+	1	1570	c.1080C>T	c.(1078-1080)tcC>tcT	p.S360S		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	360						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TCCCCCAGTCCTTCTGGTGGG	0.582000													4	29					0	0	0.000248	0	0
ANPEP	290	broad.mit.edu	37	15	90335696	90335696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:90335696G>A	ENST00000300060.6	-	17	2660	c.2347C>T	c.(2347-2349)Ccc>Tcc	p.P783S		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	783	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TTATTATTGGGGTTCTCCATC	0.592000													4	33					0	0	0.000248	0	0
OR1D2	4991	broad.mit.edu	37	17	2996055	2996055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:2996055G>A	ENST00000331459.1	-	1	235	c.236C>T	c.(235-237)cCc>cTc	p.P79L		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	79					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CAGCATCTTGGGGATTGTGTT	0.547000													16	127					0	0	0.006122	0	0
PNMAL2	57469	broad.mit.edu	37	19	46998336	46998336	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:46998336G>A	ENST00000599531.1	-	1	1419	c.387C>T	c.(385-387)acC>acT	p.T129T	PNMAL2_ENST00000377655.2_Silent_p.T129T|PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Silent_p.G149G	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	129										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		AAGCGGGAGGGGTGGGTGCCT	0.711000													5	62					0	0	0.000602	0	0
RP1L1	94137	broad.mit.edu	37	8	10467483	10467483	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:10467483C>T	ENST00000382483.3	-	4	4348	c.4125G>A	c.(4123-4125)gaG>gaA	p.E1375E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1375					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTTAACTTCCTCTAACTGCA	0.512000													46	142					0	0	0.003214	0	0
DDX19B	11269	broad.mit.edu	37	16	70363946	70363946	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:70363946T>A	ENST00000288071.6	+	9	1243	c.998T>A	c.(997-999)aTt>aAt	p.I333N	DDX19B_ENST00000563206.1_Missense_Mutation_p.I338N|RP11-529K1.2_ENST00000562077.1_RNA|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000393657.2_Missense_Mutation_p.I224N|DDX19B_ENST00000355992.3_Missense_Mutation_p.I302N|DDX19B_ENST00000568625.1_Missense_Mutation_p.I224N|DDX19B_ENST00000563392.1_Missense_Mutation_p.I224N|DDX19B_ENST00000451014.3_Missense_Mutation_p.I307N	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	333	Helicase C-terminal.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				GCCATCACCATTGCTCAAGCC	0.577000													9	71					0	0	0.004482	0	0
ALPK1	80216	broad.mit.edu	37	4	113303585	113303585	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:113303585C>T	ENST00000458497.1	+	4	432	c.153C>T	c.(151-153)atC>atT	p.I51I	ALPK1_ENST00000177648.9_Silent_p.I51I|ALPK1_ENST00000504176.2_Intron	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	51							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GGACCCTGATCCAGGAGGCAA	0.478000													10	17					0	0	0.006214	0	0
ANK3	288	broad.mit.edu	37	10	61828894	61828894	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:61828894C>T	ENST00000280772.1	-	37	11936	c.11745G>A	c.(11743-11745)gtG>gtA	p.V3915V	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3915					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTGTGTTTTTCACTGGAATTC	0.418000													17	138					0	0	0.004007	0	0
DSP	1832	broad.mit.edu	37	6	7569424	7569424	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:7569424C>T	ENST00000379802.3	+	12	1766	c.1425C>T	c.(1423-1425)atC>atT	p.I475I	DSP_ENST00000418664.2_Silent_p.I475I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	475	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACAGAAAATCGTGCATAAGG	0.468000													8	93					0	0	0.004482	0	0
TGM3	7053	broad.mit.edu	37	20	2308780	2308780	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:2308780G>A	ENST00000381458.5	+	9	1165	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	368					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GTTCCAGTGCGGCCCCGCTTC	0.592000													5	56					0	0	0.001984	0	0
DPPA3	359787	broad.mit.edu	37	12	7867976	7867976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:7867976G>A	ENST00000345088.2	+	2	397	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	94						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		TGTGCAGAGAGAAAAGATGGC	0.502000													6	29					0	0	0.001984	0	0
NUF2	83540	broad.mit.edu	37	1	163317623	163317623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:163317623C>T	ENST00000271452.3	+	12	1298	c.1019C>T	c.(1018-1020)tCg>tTg	p.S340L	NUF2_ENST00000367900.3_Missense_Mutation_p.S340L|NUF2_ENST00000524800.1_Missense_Mutation_p.S293L	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	340	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	p.S340L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GAAGAAAATTCGTTCAAAAGA	0.338000													4	41					0	0	0.000248	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76461444	76461444	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:76461444G>A	ENST00000307431.8	+	5	868	c.483G>A	c.(481-483)tgG>tgA	p.W161*	CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.W161*|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.W137*|CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.W165*|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	162	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTTTGGAATGGAACCCCAAGG	0.413000													6	75					0	0	0.001168	0	0
CAMK2D	817	broad.mit.edu	37	4	114452437	114452437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:114452437C>T	ENST00000454265.2	-	8	1394	c.536G>A	c.(535-537)gGa>gAa	p.G179E	CAMK2D_ENST00000342666.5_Missense_Mutation_p.G179E|CAMK2D_ENST00000296402.5_Missense_Mutation_p.G179E|CAMK2D_ENST00000394526.2_Missense_Mutation_p.G179E|CAMK2D_ENST00000394524.3_Missense_Mutation_p.G179E|CAMK2D_ENST00000515496.1_Missense_Mutation_p.G179E|CAMK2D_ENST00000394522.3_Missense_Mutation_p.G179E|CAMK2D_ENST00000418639.2_Missense_Mutation_p.G179E|CAMK2D_ENST00000505990.1_Missense_Mutation_p.G179E|CAMK2D_ENST00000514328.1_Missense_Mutation_p.G179E|CAMK2D_ENST00000429180.1_Missense_Mutation_p.G179E|CAMK2D_ENST00000511664.1_Missense_Mutation_p.G179E|CAMK2D_ENST00000508738.1_Missense_Mutation_p.G179E|CAMK2D_ENST00000379773.2_Missense_Mutation_p.G179E			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	179	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		AGAAAGATATCCAGGTGTGCC	0.358000													6	15					0	0	0.001984	0	0
CACNA1S	779	broad.mit.edu	37	1	201008964	201008964	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:201008964G>A	ENST00000362061.3	-	44	5843	c.5617C>T	c.(5617-5619)Ctg>Ttg	p.L1873L	CACNA1S_ENST00000367338.3_Silent_p.L1854L|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1873					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGGCATCACAGCCTTGGAGGA	0.637000													5	55					0	0	0.001168	0	0
CSMD2	114784	broad.mit.edu	37	1	34189802	34189802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:34189802C>T	ENST00000373381.4	-	19	3172	c.2996G>A	c.(2995-2997)gGc>gAc	p.G999D		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	959	CUB 6.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTCACCCTTGCCATGAGATGT	0.527000													10	67					0	0	0.006214	0	0
ROR1	4919	broad.mit.edu	37	1	64474976	64474976	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:64474976G>A	ENST00000371079.1	+	2	466		c.e2-1		ROR1_ENST00000482426.1_Splice_Site|ROR1_ENST00000371080.1_Splice_Site	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1						transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TTTCTTTTCAGAAACAGAGCT	0.438000													9	166					0	0	0.004482	0	0
ADH6	130	broad.mit.edu	37	4	100134803	100134803	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:100134803G>A	ENST00000394897.1	-	3	304	c.222C>T	c.(220-222)atC>atT	p.I74I	RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000394899.2_Silent_p.I74I|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000407820.2_Intron|ADH6_ENST00000237653.7_Silent_p.I74I|RP11-696N14.1_ENST00000500358.2_RNA			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	74					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TACTCTCAACGATTCCAGCCC	0.478000													18	42					0	0	0.006122	0	0
TLR5	7100	broad.mit.edu	37	1	223285526	223285526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:223285526G>A	ENST00000540964.1	-	4	1309	c.848C>T	c.(847-849)gCt>gTt	p.A283V	TLR5_ENST00000342210.6_Missense_Mutation_p.A283V			O60602	TLR5_HUMAN	toll-like receptor 5	283					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GGCCAGGCCAGCAAATGTGTT	0.483000													13	44					0	0	0.001368	0	0
AMER3	205147	broad.mit.edu	37	2	131520837	131520837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:131520837G>A	ENST00000423981.1	+	2	1302	c.1192G>A	c.(1192-1194)Gac>Aac	p.D398N	AMER3_ENST00000321420.4_Missense_Mutation_p.D398N	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		ACTTGAGGAGGACAAGAAGGA	0.617000													6	29					0	0	0.001168	0	0
MED9	55090	broad.mit.edu	37	17	17394690	17394690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:17394690C>T	ENST00000268711.3	+	2	378	c.322C>T	c.(322-324)Cac>Tac	p.H108Y		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	108					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCCCGGCATCCACCTGAGCCC	0.582000													6	46					0	0	0.001168	0	0
FAM180A	389558	broad.mit.edu	37	7	135419001	135419001	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:135419001A>C	ENST00000338588.3	-	3	509	c.244T>G	c.(244-246)Tcc>Gcc	p.S82A	FAM180A_ENST00000415751.1_Missense_Mutation_p.S82A	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	82						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						TTCCGCAAGGAGGCCAGCTCC	0.582000													5	110					0	0	0.000602	0	0
CACNA2D1	781	broad.mit.edu	37	7	81600002	81600002	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:81600002A>C	ENST00000535308.1	-	1	403	c.20T>G	c.(19-21)tTt>tGt	p.F7C	CACNA2D1_ENST00000356860.3_Silent_p.V731V|CACNA2D1_ENST00000356253.5_Silent_p.V743V			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	0						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTTTGGGATAAACTCTGGTAA	0.363000													11	110					0	0	0.001368	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144865929	144865929	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:144865929C>T	ENST00000369359.4	-	38	6097	c.6058_splice	c.e38-1	p.G2020_splice	PDE4DIP_ENST00000313382.9_Splice_Site_p.G1778_splice|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Splice_Site_p.G1884_splice|PDE4DIP_ENST00000369356.4_Splice_Site_p.G1884_splice|PDE4DIP_ENST00000530740.1_Splice_Site_p.G1969_splice			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1884					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGAAGTGGATCCTGTCCCAGA	0.468000			T	PDGFRB	MPD								24	424					0	0	0.005443	0	0
NCOR2	9612	broad.mit.edu	37	12	124848313	124848313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:124848313G>A	ENST00000356219.3	-	22	2995	c.2840C>T	c.(2839-2841)cCg>cTg	p.P947L	NCOR2_ENST00000404121.2_Missense_Mutation_p.P500L|NCOR2_ENST00000429285.2_Missense_Mutation_p.P929L|NCOR2_ENST00000397355.1_Missense_Mutation_p.P930L|NCOR2_ENST00000405201.1_Missense_Mutation_p.P947L|NCOR2_ENST00000404621.1_Missense_Mutation_p.P929L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	947					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTCGCCAGTCGGGGTGAGGAG	0.711000													6	67					0	0	0.003080	0	0
IGFN1	91156	broad.mit.edu	37	1	201186547	201186547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:201186547G>A	ENST00000335211.4	+	17	9858	c.9728G>A	c.(9727-9729)gGg>gAg	p.G3243E	IGFN1_ENST00000295591.8_Missense_Mutation_p.G403E	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CGTAAGAAGGGGAGCAACACC	0.642000													7	44					0	0	0.001984	0	0
LIPI	149998	broad.mit.edu	37	21	15524928	15524928	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:15524928G>A	ENST00000344577.2	-	8	1172	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*	LIPI_ENST00000536861.1_Nonsense_Mutation_p.Q362*	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	362					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ATTCCAAGCTGATTTAATAAT	0.284000													4	28					0	0	0.000602	0	0
CYP19A1	1588	broad.mit.edu	37	15	51503147	51503147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:51503147C>T	ENST00000396402.1	-	10	1523	c.1370G>A	c.(1369-1371)cGa>cAa	p.R457Q	CYP19A1_ENST00000260433.2_Missense_Mutation_p.R457Q|CYP19A1_ENST00000396404.4_Missense_Mutation_p.R457Q|CYP19A1_ENST00000559878.1_Missense_Mutation_p.R457Q|RP11-108K3.1_ENST00000559909.1_lincRNA	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	457					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CACGTGGAATCGTCTCAGAAG	0.473000													9	46					0	0	0.000978	0	0
XKR9	389668	broad.mit.edu	37	8	71619234	71619234	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:71619234C>T	ENST00000408926.3	+	4	873	c.339C>T	c.(337-339)ttC>ttT	p.F113F	XKR9_ENST00000520273.1_3'UTR|XKR9_ENST00000520030.1_Silent_p.F113F	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	113						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CTAGTAACTTCGTGGAAGAAC	0.358000													4	34					0	0	0.000248	0	0
FLAD1	80308	broad.mit.edu	37	1	154962903	154962903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:154962903C>T	ENST00000292180.3	+	5	1775	c.1453C>T	c.(1453-1455)Ctt>Ttt	p.L485F	FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000368433.1_3'UTR|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368432.1_Missense_Mutation_p.L388F|FLAD1_ENST00000315144.10_Missense_Mutation_p.L388F|FLAD1_ENST00000368428.1_Missense_Mutation_p.L26F	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	485	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGAGGCTGTCCTTATGGGCAC	0.602000													7	39					0	0	0.001984	0	0
ZNF607	84775	broad.mit.edu	37	19	38200709	38200709	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:38200709G>A	ENST00000355202.4	-	3	619	c.24C>T	c.(22-24)ttC>ttT	p.F8F	ZNF607_ENST00000395835.3_Silent_p.F8F|CTD-2528L19.4_ENST00000586606.2_Silent_p.F8F	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	8	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F8F(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CCACATCCCCGAATGTTATTG	0.498000													4	43					0	0	0.000602	0	0
SRRM2	23524	broad.mit.edu	37	16	2812796	2812796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:2812796C>T	ENST00000301740.8	+	11	2816	c.2267C>T	c.(2266-2268)tCa>tTa	p.S756L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	756	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CGCATTTCTTCAAGGCGGAGC	0.473000													27	79					0	0	0.004656	0	0
GUK1	2987	broad.mit.edu	37	1	228334616	228334616	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:228334616C>T	ENST00000366718.1	+	4	655	c.228C>T	c.(226-228)ttC>ttT	p.F76F	GUK1_ENST00000366726.1_Silent_p.F76F|GUK1_ENST00000366716.1_Silent_p.F76F|GUK1_ENST00000391865.3_Silent_p.F97F|GUK1_ENST00000366730.1_Silent_p.F76F|GUK1_ENST00000366728.2_Silent_p.F97F|GUK1_ENST00000366723.1_Silent_p.F97F|GUK1_ENST00000366722.1_Silent_p.F76F|GUK1_ENST00000366721.1_Silent_p.F78F|GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000312726.4_Silent_p.F76F	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1	76	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				ATGCCGAGTTCTCGGGGAACC	0.607000													10	63					0	0	0.000978	0	0
FCRL6	343413	broad.mit.edu	37	1	159778040	159778040	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:159778040G>A	ENST00000321935.6	+	4	232	c.146G>A	c.(145-147)tGg>tAg	p.W49*	FCRL6_ENST00000392235.3_Nonsense_Mutation_p.W42*|FCRL6_ENST00000339348.5_Nonsense_Mutation_p.W42*|FCRL6_ENST00000368106.3_Nonsense_Mutation_p.W42*			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	42	Ig-like C2-type 1.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					TGTCAGGGATGGAAGAATACA	0.512000													12	31					0	0	0.000978	0	0
ANK3	288	broad.mit.edu	37	10	62039396	62039396	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:62039396G>A	ENST00000280772.1	-	2	307	c.114_splice	c.e2-1	p.S39_splice	ANK3_ENST00000373827.2_Splice_Site_p.S33_splice|ANK3_ENST00000503366.1_Splice_Site_p.S22_splice	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	39					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATTGGCATCAGACTAAAATAA	0.343000													7	65					0	0	0.001984	0	0
FERMT1	55612	broad.mit.edu	37	20	6077568	6077568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:6077568C>T	ENST00000217289.4	-	8	1858	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E	FERMT1_ENST00000536936.1_Missense_Mutation_p.G100E	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	357	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GTCCGCTTTTCCACCTTCTAG	0.413000													9	150					0	0	0.006214	0	0
SOCS6	9306	broad.mit.edu	37	18	67993118	67993118	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:67993118C>T	ENST00000397942.3	+	2	1530	c.1214C>T	c.(1213-1215)tCt>tTt	p.S405F	SOCS6_ENST00000582322.1_Missense_Mutation_p.S405F	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	405	SH2.				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CCAGATGGTTCTTTTCTTGTT	0.468000													7	49					0	0	0.001984	0	0
MAP3K14	9020	broad.mit.edu	37	17	43348577	43348577	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:43348577G>A	ENST00000344686.2	-	0	1774							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCTGTGCCAGGGATGTAGTCC	0.582000													6	39					0	0	0.001984	0	0
BTN1A1	696	broad.mit.edu	37	6	26505269	26505269	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:26505269G>A	ENST00000244513.6	+	3	610	c.544G>A	c.(544-546)Gga>Aga	p.G182R		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	182	Ig-like V-type 2.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AACTTCCAAGGGAGAGAAGTT	0.478000													4	37					0	0	0.000602	0	0
ZFX	7543	broad.mit.edu	37	X	24228975	24228975	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:24228975C>T	ENST00000379177.1	+	11	2327	c.1900C>T	c.(1900-1902)Cag>Tag	p.Q634*	ZFX_ENST00000379188.3_Nonsense_Mutation_p.Q634*|ZFX_ENST00000338565.3_Nonsense_Mutation_p.Q584*|ZFX_ENST00000539115.1_Nonsense_Mutation_p.Q405*|ZFX_ENST00000540034.1_Nonsense_Mutation_p.Q673*|ZFX_ENST00000304543.5_Nonsense_Mutation_p.Q634*	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	634				Missing (in Ref. 5).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CAAAACACACCAGTGTTTGCA	0.423000													16	25					0	0	0.006122	0	0
PSG1	5669	broad.mit.edu	37	19	43382178	43382178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:43382178G>A	ENST00000244296.2	-	2	454	c.317C>T	c.(316-318)tCc>tTc	p.S106F	PSG1_ENST00000436291.2_Missense_Mutation_p.S106F|PSG1_ENST00000403380.3_Missense_Mutation_p.S106F|PSG1_ENST00000595356.1_Missense_Mutation_p.S106F|PSG1_ENST00000312439.6_Missense_Mutation_p.S106F|PSG1_ENST00000595124.1_Missense_Mutation_p.S106F|PSG1_ENST00000601073.1_5'UTR	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GATCAGCAGGGATGCATTGGA	0.453000													28	273					0	0	0.001786	0	0
ECD	11319	broad.mit.edu	37	10	74894572	74894572	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:74894572C>T	ENST00000372979.4	-	14	1911		c.e14-1		ECD_ENST00000454759.1_Splice_Site|ECD_ENST00000430082.1_Splice_Site	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)						regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					ATACAGGTTCCTTATTCATAG	0.383000													7	24					0	0	0.003080	0	0
ASPM	259266	broad.mit.edu	37	1	197072848	197072848	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:197072848G>A	ENST00000367409.4	-	18	5789	c.5533C>T	c.(5533-5535)Caa>Taa	p.Q1845*	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1845	IQ 9.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGCACAGATTGATATTTTACC	0.348000													5	79					0	0	0.000602	0	0
RIPK4	54101	broad.mit.edu	37	21	43161260	43161260	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:43161260G>A	ENST00000352483.2	-	9	2301	c.2237C>T	c.(2236-2238)gCc>gTc	p.A746V	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Missense_Mutation_p.A635V|RIPK4_ENST00000332512.3_Missense_Mutation_p.A698V|RIPK4_ENST00000542057.1_Missense_Mutation_p.A635V			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	698						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGGTCCCCGGGCCAGCACATC	0.662000													15	54					0	0	0.004007	0	0
LRRC49	54839	broad.mit.edu	37	15	71341895	71341895	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:71341895C>T	ENST00000260382.5	+	16	2265	c.2005C>T	c.(2005-2007)Cgc>Tgc	p.R669C	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.R659C|LRRC49_ENST00000443425.2_Missense_Mutation_p.R625C|LRRC49_ENST00000560158.2_Missense_Mutation_p.R357C|LRRC49_ENST00000560691.1_Missense_Mutation_p.R375C|LRRC49_ENST00000560369.1_Missense_Mutation_p.R674C	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	669						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CATAGAAATTCGCAATAAAAA	0.368000													20	102					0	0	0.001523	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38187043	38187043	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:38187043G>A	ENST00000317025.8	-	6	1951	c.1434C>T	c.(1432-1434)tcC>tcT	p.S478S	WHSC1L1_ENST00000527502.1_Silent_p.S478S|WHSC1L1_ENST00000433384.2_Silent_p.S478S|WHSC1L1_ENST00000316985.3_Silent_p.S478S	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	478					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AAGCTGGTAAGGATTTCCTTG	0.478000			T	NUP98	AML								5	44					0	0	0.000602	0	0
FZD6	8323	broad.mit.edu	37	8	104340629	104340629	+	Missense_Mutation	SNP	G	G	A	rs143405641		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:104340629G>A	ENST00000358755.4	+	5	1843	c.1526G>A	c.(1525-1527)cGa>cAa	p.R509Q	FZD6_ENST00000522566.1_Missense_Mutation_p.R509Q|FZD6_ENST00000523739.1_Missense_Mutation_p.R477Q|FZD6_ENST00000540287.1_Missense_Mutation_p.R204Q	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	509					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TTTTTTAAACGAAATCGCAAG	0.338000													6	28					0	0	0.003080	0	0
OR4M1	441670	broad.mit.edu	37	14	20249186	20249186	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:20249186C>T	ENST00000315957.4	+	1	786	c.705C>T	c.(703-705)acC>acT	p.T235T		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGAGAATACCAACAGGGCCA	0.468000													25	166					0	0	0.003330	0	0
FER1L6	654463	broad.mit.edu	37	8	124989698	124989698	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:124989698G>A	ENST00000522917.1	+	10	1118	c.912G>A	c.(910-912)tgG>tgA	p.W304*	FER1L6_ENST00000399018.1_Nonsense_Mutation_p.W304*	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	304	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATCCTGTGTGGCATGAACAGG	0.507000													5	113					0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9066477	9066477	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:9066477G>A	ENST00000397910.4	-	3	21172	c.20969C>T	c.(20968-20970)tCc>tTc	p.S6990F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6992	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTACCAGAGGAGGTGACTTC	0.488000													12	142					0	0	0.000978	0	0
FNBP4	23360	broad.mit.edu	37	11	47746312	47746312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:47746312G>A	ENST00000263773.5	-	13	2039	c.2027C>T	c.(2026-2028)tCc>tTc	p.S676F		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	676										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						ACCAGAAAAGGATTCTTTACA	0.403000													7	33					0	0	0.004482	0	0
ATP5G2	517	broad.mit.edu	37	12	54069842	54069842	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:54069842C>T	ENST00000394349.3	-	1	267	c.135G>A	c.(133-135)ggG>ggA	p.G45G	ATP5G2_ENST00000602871.1_5'UTR|ATP5G2_ENST00000549164.1_Intron|ATP5G2_ENST00000338662.5_Intron	NM_005176.5	NP_005167.2	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	0					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CTTACCTGCTCCCACTGCAGA	0.647000											OREG0021876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	22					0	0	0.000602	0	0
LYSMD2	256586	broad.mit.edu	37	15	52017164	52017164	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:52017164A>C	ENST00000267838.3	-	2	942	c.428T>G	c.(427-429)tTt>tGt	p.F143C	LYSMD2_ENST00000558126.1_Missense_Mutation_p.F36C|LYSMD2_ENST00000560491.1_Missense_Mutation_p.F52C|LYSMD2_ENST00000454181.2_Missense_Mutation_p.F52C	NM_153374.2	NP_699205.1	Q8IV50	LYSM2_HUMAN	LysM, putative peptidoglycan-binding, domain containing 2	143					cell wall macromolecule catabolic process					lung(2)|upper_aerodigestive_tract(1)	3				all cancers(107;0.00258)		TTCCTGAGAAAAACTGTTATC	0.463000													10	112					0	0	0.006214	0	0
RYR2	6262	broad.mit.edu	37	1	237870314	237870314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:237870314G>A	ENST00000366574.2	+	68	9963	c.9646G>A	c.(9646-9648)Gaa>Aaa	p.E3216K	RYR2_ENST00000360064.6_Missense_Mutation_p.E3214K|RYR2_ENST00000542537.1_Missense_Mutation_p.E3200K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3216					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.E3214*(1)|p.M3213_E3214>I*(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAACTCATGGAAGAAATCGT	0.428000													9	114					0	0	0.006214	0	0
CARD6	84674	broad.mit.edu	37	5	40841643	40841643	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:40841643C>T	ENST00000254691.5	+	1	358	c.159C>T	c.(157-159)ctC>ctT	p.L53L	CARD6_ENST00000381677.3_Silent_p.L53L	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	53	CARD.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TTACAGATCTCCTGAAGAAAA	0.403000													4	27					0	0	0.000248	0	0
RBBP6	5930	broad.mit.edu	37	16	24582700	24582700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:24582700G>A	ENST00000319715.4	+	18	4745	c.4313G>A	c.(4312-4314)gGa>gAa	p.G1438E	RBBP6_ENST00000348022.2_Missense_Mutation_p.G1404E|RBBP6_ENST00000381039.3_Missense_Mutation_p.G598E	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1438	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AATGAACAAGGAAATTTTAAA	0.403000													10	40					0	0	0.006214	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687059	68687059	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:68687059T>C	ENST00000361320.4	+	2	963	c.385T>C	c.(385-387)Ttc>Ctc	p.F129L	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	129						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TAACAATACCTTCAGACCTGT	0.403000													22	81					0	0	0.002299	0	0
ART3	419	broad.mit.edu	37	4	77003000	77003000	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:77003000G>A	ENST00000355810.4	+	3	212	c.93G>A	c.(91-93)atG>atA	p.M31I	ART3_ENST00000341029.5_Missense_Mutation_p.M31I|ART3_ENST00000513494.1_3'UTR|ART3_ENST00000349321.3_Missense_Mutation_p.M31I	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	31					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGTTAGACATGGCAGATAATG	0.373000													24	79					0	0	0.007291	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701699	96701699	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:96701699G>A	ENST00000260682.6	+	2	265	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	85					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AGCAGTGAAGGAAGCCCTGAT	0.473000													11	137					0	0	0.000978	0	0
ZAN	7455	broad.mit.edu	37	7	100373332	100373332	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:100373332C>T	ENST00000542585.1	+	0	6214				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCTCCCAGATCCCTGGGGTCA	0.522000													7	42					0	0	0.008291	0	0
EYA4	2070	broad.mit.edu	37	6	133789852	133789852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:133789852G>A	ENST00000367895.5	+	11	1417	c.953G>A	c.(952-954)gGa>gAa	p.G318E	EYA4_ENST00000525849.1_Missense_Mutation_p.G295E|EYA4_ENST00000431403.2_Missense_Mutation_p.G318E|EYA4_ENST00000430974.2_Missense_Mutation_p.G264E|EYA4_ENST00000452339.2_Missense_Mutation_p.G264E|EYA4_ENST00000531901.1_Missense_Mutation_p.G318E|EYA4_ENST00000355286.6_Missense_Mutation_p.G295E|EYA4_ENST00000355167.3_Missense_Mutation_p.G318E	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	318					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TCTCTCCCAGGACTGACTAAC	0.408000													16	61					0	0	0.007413	0	0
DPYD	1806	broad.mit.edu	37	1	97544576	97544576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:97544576C>T	ENST00000370192.3	-	23	3134	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	1012					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CTCTTTGGTTCATAAGGTGTT	0.453000													18	94					0	0	0.001523	0	0
DCST1	149095	broad.mit.edu	37	1	155011906	155011906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:155011906C>T	ENST00000295542.1	+	5	386	c.290C>T	c.(289-291)tCc>tTc	p.S97F	DCST1_ENST00000423025.2_Missense_Mutation_p.S72F|DCST1_ENST00000368419.2_Missense_Mutation_p.S97F|DCST1_ENST00000392480.1_Missense_Mutation_p.S97F	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	97						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGGGGACCTCCCCTCACATC	0.607000													26	73					0	0	0.006320	0	0
RASSF6	166824	broad.mit.edu	37	4	74453617	74453617	+	Missense_Mutation	SNP	G	G	A	rs142555062		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:74453617G>A	ENST00000307439.5	-	5	616	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	RASSF6_ENST00000395777.2_Missense_Mutation_p.R108C|RASSF6_ENST00000335049.5_Missense_Mutation_p.R96C|RASSF6_ENST00000342081.3_Missense_Mutation_p.R140C	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	140					apoptosis|signal transduction		protein binding	p.R140C(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCACTAATACGATAGAGATCG	0.383000													5	55					0	0	0.003080	0	0
KRBA2	124751	broad.mit.edu	37	17	8283225	8283225	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:8283225T>A	ENST00000582471.1	-	3	248	c.198A>T	c.(196-198)caA>caT	p.Q66H	RPL26_ENST00000583011.1_Missense_Mutation_p.Q66H|RPL26_ENST00000584164.1_Missense_Mutation_p.Q66H|RP11-849F2.5_ENST00000579904.1_RNA|RPL26_ENST00000582556.1_Missense_Mutation_p.Q66H|RPL26_ENST00000578812.1_Missense_Mutation_p.Q66H|RPL26_ENST00000293842.5_Missense_Mutation_p.Q66H|RP11-849F2.5_ENST00000585181.1_RNA|RPL26_ENST00000585176.1_5'UTR																							CTTTGCCAATTTGCTGACCTT	0.373000													10	33					0	0	0.001368	0	0
DOCK3	1795	broad.mit.edu	37	3	51308341	51308341	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:51308341G>A	ENST00000266037.9	+	24	2474	c.2451G>A	c.(2449-2451)ggG>ggA	p.G817G		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	817						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGACACTGGGGAGCATGCCCA	0.527000													13	55					0	0	0.001368	0	0
KLF17	128209	broad.mit.edu	37	1	44595869	44595869	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:44595869G>A	ENST00000372299.3	+	2	983		c.e2+1		KLF17_ENST00000476802.1_Splice_Site	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17						regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					AAGCACACAGGTGAAGGAGGT	0.552000													7	78					0	0	0.003080	0	0
BPGM	669	broad.mit.edu	37	7	134346485	134346485	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:134346485C>T	ENST00000393132.2	+	3	715	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	BPGM_ENST00000344924.3_Nonsense_Mutation_p.Q76*|BPGM_ENST00000418040.1_Nonsense_Mutation_p.Q76*	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase	76					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						AGAGCTAGGCCAGGAATGGGT	0.493000													7	27					0	0	0.003080	0	0
DHRS2	10202	broad.mit.edu	37	14	24108413	24108413	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:24108413C>T	ENST00000250383.6	+	3	642	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	DHRS2_ENST00000344777.7_Silent_p.L56L|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	34					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CGCCCGACGTCTGGCCCGGGA	0.642000													9	118					0	0	0.001368	0	0
LINC00842	643650	broad.mit.edu	37	10	47133696	47133696	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:47133696C>T	ENST00000422732.2	-	0	435					NR_033957.1																						accaAAGTTTCCAGAACCACT	0.488000													4	37					0	0	0.000602	0	0
DHX34	9704	broad.mit.edu	37	19	47856294	47856294	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:47856294C>T	ENST00000328771.4	+	2	356	c.7C>T	c.(7-9)Cct>Tct	p.P3S		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	3						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TAACATGCCTCCTCCTAGAAC	0.527000													9	13					0	0	0.006214	0	0
PLB1	151056	broad.mit.edu	37	2	28828750	28828750	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:28828750C>T	ENST00000422425.2	+	41	3003	c.2959C>T	c.(2959-2961)Cca>Tca	p.P987S	PLB1_ENST00000327757.5_Missense_Mutation_p.P998S|PLB1_ENST00000541605.1_Intron	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	998	4 X 308-326 AA approximate repeats.		A -> V (in dbSNP:rs34289907).		lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTTCTTTGCCCCAGACTGCAT	0.527000													12	150					0	0	0.001855	0	0
PHF1	5252	broad.mit.edu	37	6	33383017	33383017	+	Silent	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:33383017A>G	ENST00000374516.3	+	13	1516	c.1245A>G	c.(1243-1245)tcA>tcG	p.S415S	PHF1_ENST00000374512.3_Intron	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	415					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCTAGGCCTCAGTGTCTCCAC	0.607000													7	108					0	0	0.004482	0	0
TMEM108	66000	broad.mit.edu	37	3	133098932	133098932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:133098932C>T	ENST00000515826.1	+	3	500	c.377C>T	c.(376-378)tCc>tTc	p.S126F	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.S126F|TMEM108_ENST00000321871.6_Missense_Mutation_p.S126F			Q6UXF1	TM108_HUMAN	transmembrane protein 108	126	Pro-rich.					integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCAACCACATCCTCCAAGCCA	0.692000													5	29					0	0	0.001984	0	0
C1orf94	84970	broad.mit.edu	37	1	34684324	34684324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:34684324C>T	ENST00000488417.1	+	7	1879	c.1759C>T	c.(1759-1761)Ccc>Tcc	p.P587S	C1orf94_ENST00000373374.3_Missense_Mutation_p.P397S	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	397							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GATGCACAGCCCCTATTTTTC	0.493000													13	53					0	0	0.003163	0	0
TRPM2	7226	broad.mit.edu	37	21	45799023	45799023	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:45799023C>T	ENST00000397928.1	+	8	1603	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	TRPM2_ENST00000397932.2_Silent_p.F386F|TRPM2_ENST00000300481.9_Silent_p.F386F|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.F386F	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	386						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGAGCGTGTTCTTCCAGGAGA	0.582000													5	63					0	0	0.001168	0	0
SIRPG	55423	broad.mit.edu	37	20	1616074	1616074	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:1616074G>A	ENST00000381580.1	-	4	1000	c.821C>T	c.(820-822)aCc>aTc	p.T274I	SIRPG_ENST00000216927.4_Intron|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Intron|SIRPG_ENST00000303415.3_Missense_Mutation_p.T307I|RP11-77C3.3_ENST00000456177.1_RNA			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	307	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CCAGTTGTAGGTACCATCCTT	0.542000													7	102					0	0	0.003080	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455190	84455190	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:84455190C>T	ENST00000377084.2	-	1	1338	c.453G>A	c.(451-453)caG>caA	p.Q151Q		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	151						integral to membrane		p.Q151H(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTTCAAGTCCTGGAAGGCCC	0.483000													13	54					0	0	0.002450	0	0
TNIK	23043	broad.mit.edu	37	3	170912416	170912416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:170912416C>T	ENST00000436636.2	-	5	659	c.315G>A	c.(313-315)atG>atA	p.M105I	TNIK_ENST00000488470.1_Missense_Mutation_p.M105I|TNIK_ENST00000475336.1_Missense_Mutation_p.M105I|TNIK_ENST00000369326.5_Missense_Mutation_p.M105I|TNIK_ENST00000357327.5_Missense_Mutation_p.M105I|TNIK_ENST00000470834.1_Missense_Mutation_p.M105I|TNIK_ENST00000341852.6_Missense_Mutation_p.M105I|TNIK_ENST00000538048.1_Missense_Mutation_p.M105I|TNIK_ENST00000284483.8_Missense_Mutation_p.M105I|TNIK_ENST00000460047.1_Missense_Mutation_p.M105I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	105	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CACAAAACTCCATCACCAACT	0.438000													9	81					0	0	0.006214	0	0
THBS3	7059	broad.mit.edu	37	1	155175068	155175068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:155175068G>A	ENST00000368378.3	-	3	346	c.326C>T	c.(325-327)gCc>gTc	p.A109V	RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000487250.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000428962.2_Intron|THBS3_ENST00000457183.2_Intron	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	109	TSP N-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TAGGTTCACGGCGTGGACTTT	0.642000													4	42					0	0	0.000602	0	0
CLTCL1	8218	broad.mit.edu	37	22	19197869	19197869	+	Silent	SNP	G	G	A	rs36059037		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:19197869G>A	ENST00000263200.10	-	20	3288	c.3216C>T	c.(3214-3216)ttC>ttT	p.F1072F	CLTCL1_ENST00000427926.1_Silent_p.F1072F|CLTCL1_ENST00000353891.5_Silent_p.F1072F	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1072	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CAAACTTGTGGAAAACGGTGA	0.552000			T	?	ALCL								16	57					0	0	0.006122	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846657	47846657	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:47846657G>A	ENST00000339488.4	-	3	1956	c.1923C>T	c.(1921-1923)atC>atT	p.I641I		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	641						integral to membrane	hedgehog receptor activity	p.I641I(1)									GGTTGAACACGATGAATCGGA	0.483000													22	108					0	0	0.003330	0	0
LRP1B	53353	broad.mit.edu	37	2	141215150	141215150	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:141215150C>T	ENST00000389484.3	-	61	10667	c.9696G>A	c.(9694-9696)ggG>ggA	p.G3232G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3232					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTTGGTTTTCCCATCAGTCC	0.428000										TSP Lung(27;0.18)			12	36					0	0	0.002450	0	0
HIPK4	147746	broad.mit.edu	37	19	40886322	40886322	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:40886322C>T	ENST00000291823.2	-	3	1860	c.1576G>A	c.(1576-1578)Gga>Aga	p.G526R		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	526						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			AGATGCTCTCCTTCCTCCCAG	0.617000													8	50					0	0	0.004482	0	0
MCOLN2	255231	broad.mit.edu	37	1	85405368	85405368	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:85405368G>A	ENST00000370608.3	-	9	1045	c.978C>T	c.(976-978)ttC>ttT	p.F326F	MCOLN2_ENST00000284027.5_Silent_p.F298F|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	326						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		ACTTCTCCAGGAAGAAATTTA	0.453000													4	42					0	0	0.001168	0	0
SHROOM1	134549	broad.mit.edu	37	5	132160479	132160479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:132160479G>A	ENST00000378679.3	-	6	1873	c.1069C>T	c.(1069-1071)Cct>Tct	p.P357S	SHROOM1_ENST00000319854.3_Missense_Mutation_p.P357S|SHROOM1_ENST00000378676.1_Intron	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	357					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AACTCTGCAGGATACATCACC	0.567000													8	30					0	0	0.003080	0	0
REG1P	5969	broad.mit.edu	37	2	79365079	79365079	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:79365079G>A	ENST00000444841.1	-	0	166																											TATGTGTGGGGAAAACAATCT	0.502000													3	7					0	0	0.004672	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92694235	92694235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:92694235C>T	ENST00000318445.6	+	9	1958	c.1744C>T	c.(1744-1746)Cgt>Tgt	p.R582C	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R582C|RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	582					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TCTCCTCCTTCGTTTGTTGGG	0.373000													5	44					0	0	0.000602	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119807	38119807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:38119807C>T	ENST00000406386.3	+	7	1499	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	415					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCCAAAGCCTCCAGAACCTCC	0.577000													9	49					0	0	0.004482	0	0
POLR3B	55703	broad.mit.edu	37	12	106824228	106824228	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:106824228C>T	ENST00000228347.4	+	14	1663	c.1441C>T	c.(1441-1443)Cct>Tct	p.P481S	POLR3B_ENST00000539066.1_Missense_Mutation_p.P423S	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	481					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AATGCTGTGTCCTTCGGACAC	0.527000													7	41					0	0	0.003080	0	0
PIGG	54872	broad.mit.edu	37	4	524291	524291	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:524291C>T	ENST00000453061.2	+	11	2434	c.2328C>T	c.(2326-2328)gaC>gaT	p.D776D	PIGG_ENST00000383028.4_Silent_p.D643D|PIGG_ENST00000504346.1_Silent_p.D687D|PIGG_ENST00000310340.5_Silent_p.D768D|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	776					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GCACCAAAGACTTACTTAAAT	0.383000													20	81					0	0	0.008871	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558555	140558555	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140558555C>T	ENST00000239444.2	+	1	1185	c.940C>T	c.(940-942)Cag>Tag	p.Q314*		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		314	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAAAAATTTCAGTCCTATGA	0.398000													10	149					0	0	0.006214	0	0
RNASE9	390443	broad.mit.edu	37	14	21024712	21024712	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:21024712C>T	ENST00000557068.1	-	4	2242	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	RNASE9_ENST00000338904.3_Missense_Mutation_p.E173K|RNASE9_ENST00000404716.3_Missense_Mutation_p.E178K|RNASE9_ENST00000429244.2_Missense_Mutation_p.E173K|RNASE9_ENST00000553706.1_Missense_Mutation_p.E178K|RNASE9_ENST00000556208.1_Missense_Mutation_p.E178K|RNASE9_ENST00000553541.1_Missense_Mutation_p.E173K|RNASE9_ENST00000557209.1_Missense_Mutation_p.E178K|RNASE9_ENST00000555230.1_Missense_Mutation_p.E173K|RNASE9_ENST00000554964.1_Missense_Mutation_p.E173K			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	173						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TTTTGCATTTCATTTTGCCAT	0.388000													4	20					0	0	0.000248	0	0
TNR	7143	broad.mit.edu	37	1	175362956	175362956	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:175362956G>A	ENST00000367674.1	-	6	2024	c.1316C>T	c.(1315-1317)tCa>tTa	p.S439L	TNR_ENST00000263525.2_Missense_Mutation_p.S439L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	439	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S439*(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GAAGGAAAATGAGAAGGGCTC	0.458000													8	149					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179408644	179408644	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179408644T>A	ENST00000589042.1	-	346	96451	c.96227A>T	c.(96226-96228)aAt>aTt	p.N32076I	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N23011I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N29508I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N23203I|TTN_ENST00000359218.5_Missense_Mutation_p.N23136I|TTN_ENST00000591111.1_Missense_Mutation_p.N30435I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30435	Fibronectin type-III 132.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCGTACCGATTAACTTTGTC	0.423000													18	64					0	0	0.004990	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920222	155920222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:155920222G>A	ENST00000368316.1	-	25	3141	c.2671C>T	c.(2671-2673)Cat>Tat	p.H891Y	ARHGEF2_ENST00000368315.3_Missense_Mutation_p.H920Y|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.H918Y|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.H891Y|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.H919Y			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	919					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AAGTTTCGATGGACAGAGCGA	0.602000													10	63					0	0	0.000978	0	0
CHD9	80205	broad.mit.edu	37	16	53190396	53190396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:53190396C>T	ENST00000566029.1	+	2	604	c.395C>T	c.(394-396)aCc>aTc	p.T132I	CHD9_ENST00000564845.1_Missense_Mutation_p.T132I|CHD9_ENST00000398510.3_Missense_Mutation_p.T132I|CHD9_ENST00000447540.1_Missense_Mutation_p.T132I			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	132					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACAGCTACTACCATTTCAAAT	0.408000													12	114					0	0	0.001855	0	0
SHANK3	85358	broad.mit.edu	37	22	51160692	51160692	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:51160692C>T	ENST00000414786.2	+	21	4616	c.4389C>T	c.(4387-4389)ccC>ccT	p.P1463P	SHANK3_ENST00000445220.2_Silent_p.P1479P|SHANK3_ENST00000262795.3_Silent_p.P1493P			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1493										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGGGGGACCCCGTGGAGAGCC	0.682000													7	31					0	0	0.003080	0	0
TREM1	54210	broad.mit.edu	37	6	41250362	41250362	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:41250362C>T	ENST00000591620.1	-	2	203	c.177G>A	c.(175-177)agG>agA	p.R59R	TREM1_ENST00000244709.4_Silent_p.R59R|TREM1_ENST00000589614.1_Silent_p.R59R|TREM1_ENST00000334475.6_Silent_p.R59R	NM_001242589.1	NP_001229518.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	59	Ig-like V-type.				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	TCTCTCCGTCCCTTATTATCT	0.493000													6	91					0	0	0.003080	0	0
EPHB1	2047	broad.mit.edu	37	3	134670780	134670780	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:134670780G>A	ENST00000398015.3	+	3	1061	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	231	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CAACGCAGAGGAAGTGGACGT	0.542000													12	122					0	0	0.001368	0	0
PTPRB	5787	broad.mit.edu	37	12	70975043	70975043	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:70975043C>T	ENST00000334414.6	-	10	2395	c.2351G>A	c.(2350-2352)gGa>gAa	p.G784E	PTPRB_ENST00000550857.1_Missense_Mutation_p.G476E|PTPRB_ENST00000551525.1_Missense_Mutation_p.G783E|PTPRB_ENST00000550358.1_Missense_Mutation_p.G784E|PTPRB_ENST00000538708.1_Missense_Mutation_p.G566E|PTPRB_ENST00000451516.2_Missense_Mutation_p.G476E|PTPRB_ENST00000261266.5_Missense_Mutation_p.G566E	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	566	Fibronectin type-III 9.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACTGGTCATTCCTTGGTTGGC	0.398000													5	39					0	0	0.000602	0	0
SNTA1	6640	broad.mit.edu	37	20	32005578	32005578	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:32005578G>A	ENST00000217381.2	-	3	919	c.648C>T	c.(646-648)tcC>tcT	p.S216S		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	216	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CCATCTTCAAGGACATGTGTT	0.627000													6	50					0	0	0.001984	0	0
MYH4	4622	broad.mit.edu	37	17	10366925	10366925	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10366925G>A	ENST00000255381.2	-	8	794	c.684C>T	c.(682-684)ccC>ccT	p.P228P	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	228	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTCCAGTAGGGGGTTAGCAC	0.418000													10	43					0	0	0.000978	0	0
UGT1A3	54659	broad.mit.edu	37	2	234638622	234638622	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:234638622A>G	ENST00000482026.1	+	1	869	c.850A>G	c.(850-852)Agg>Ggg	p.R284G	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTGTGCCAACAGGAAGCCACT	0.438000													4	99					0	0	0.000248	0	0
PCLO	27445	broad.mit.edu	37	7	82595698	82595698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:82595698G>A	ENST00000423517.2	-	4	3743	c.3406C>T	c.(3406-3408)Cct>Tct	p.P1136S	PCLO_ENST00000333891.8_Missense_Mutation_p.P1136S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1075					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACAGGCATAGGAGATGCTTTG	0.433000													10	83					0	0	0.008291	0	0
MACF1	23499	broad.mit.edu	37	1	39812801	39812801	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:39812801G>A	ENST00000564288.1	+	41	11511	c.10734G>A	c.(10732-10734)caG>caA	p.Q3578Q	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Silent_p.Q3615Q|MACF1_ENST00000289893.4_Silent_p.Q2018Q|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Silent_p.Q3583Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3583					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGTCCTTCCAGGACATTTTGG	0.512000													13	54					0	0	0.003163	0	0
SEMA3D	223117	broad.mit.edu	37	7	84642104	84642104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:84642104C>T	ENST00000284136.6	-	15	1805	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	588					cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.E588K(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TTACTGTCTTCGATGTCCCAG	0.383000													6	52					0	0	0.001984	0	0
MACF1	23499	broad.mit.edu	37	1	39763387	39763387	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:39763387C>T	ENST00000564288.1	+	21	3228	c.2451C>T	c.(2449-2451)tcC>tcT	p.S817S	MACF1_ENST00000317713.7_Silent_p.S822S|MACF1_ENST00000567887.1_Silent_p.S854S|MACF1_ENST00000545844.1_Silent_p.S822S|MACF1_ENST00000539005.1_Silent_p.S822S|MACF1_ENST00000361689.2_Silent_p.S822S|MACF1_ENST00000372915.3_Silent_p.S822S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	822					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGCTTATCCCGCCTTGAAG	0.468000													12	35					0	0	0.001855	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													3	12					0	0	0.004672	0	0
LRRC66	339977	broad.mit.edu	37	4	52861180	52861180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:52861180G>A	ENST00000343457.3	-	4	2014	c.2008C>T	c.(2008-2010)Cct>Tct	p.P670S		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	670						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CATCTTGGAGGAAAGACTGAT	0.562000													19	37					0	0	0.008871	0	0
OR13C5	138799	broad.mit.edu	37	9	107361685	107361685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:107361685C>T	ENST00000374779.2	-	1	103	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GTGTGGTTTTCCCATTCCATT	0.363000													4	50					0	0	0.000602	0	0
KAT7	11143	broad.mit.edu	37	17	47900574	47900574	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:47900574C>T	ENST00000503935.2	+	12	1965	c.929C>T	c.(928-930)tCa>tTa	p.S310L	KAT7_ENST00000510819.1_Missense_Mutation_p.S297L|KAT7_ENST00000509773.1_Missense_Mutation_p.S356L|KAT7_ENST00000259021.4_Missense_Mutation_p.S466L|KAT7_ENST00000435742.2_Missense_Mutation_p.S280L|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000424009.2_Missense_Mutation_p.S436L|KAT7_ENST00000454930.2_Missense_Mutation_p.S327L			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	466					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										GAAAAGAATTCATTCCTCAAC	0.403000													6	46					0	0	0.001984	0	0
TMEM145	284339	broad.mit.edu	37	19	42818673	42818673	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:42818673G>T	ENST00000598766.1	+	3	296	c.296G>T	c.(295-297)gGg>gTg	p.G99V	TMEM145_ENST00000601020.1_3'UTR|TMEM145_ENST00000301204.3_Missense_Mutation_p.G89V			Q8NBT3	TM145_HUMAN	transmembrane protein 145	89						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TACAAGGCAGGGGACAAGGTG	0.617000													23	70					7.33628e-21	8.34084e-21	0.002299	1	0
KRTAP13-3	337960	broad.mit.edu	37	21	31798068	31798068	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:31798068C>T	ENST00000390690.2	-	1	218	c.163G>A	c.(163-165)Ggc>Agc	p.G55S		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	55	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						TCCTGACAGCCCCTATAGAGA	0.602000													6	42					0	0	0.001168	0	0
DACT1	51339	broad.mit.edu	37	14	59113693	59113693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:59113693G>A	ENST00000395153.3	+	4	2388	c.2241G>A	c.(2239-2241)tgG>tgA	p.W747*	DACT1_ENST00000556859.1_Nonsense_Mutation_p.W503*|DACT1_ENST00000335867.4_Nonsense_Mutation_p.W784*|DACT1_ENST00000541264.2_Nonsense_Mutation_p.W503*|DACT1_ENST00000395151.3_Nonsense_Mutation_p.W503*	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	784					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCTTAATTTGGTCCCAGTTTG	0.552000													7	64					0	0	0.004482	0	0
BNIPL	149428	broad.mit.edu	37	1	151018317	151018317	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:151018317G>A	ENST00000295294.7	+	8	1259	c.650G>A	c.(649-651)tGg>tAg	p.W217*	BNIPL_ENST00000368931.3_Nonsense_Mutation_p.W299*|BNIPL_ENST00000491386.1_3'UTR	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	299	CRAL-TRIO.				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CATGCTACATGGTATGTGAAA	0.448000													8	138					0	0	0.006214	0	0
LZTR1	8216	broad.mit.edu	37	22	21340178	21340178	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:21340178C>T	ENST00000215739.8	+	3	671	c.312C>T	c.(310-312)tcC>tcT	p.S104S	LZTR1_ENST00000389355.3_Intron|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	104					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AAGACTGCTCCTGGTGCAGGT	0.587000													12	23					0	0	0.003163	0	0
S1PR2	9294	broad.mit.edu	37	19	10335343	10335343	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:10335343A>G	ENST00000590320.1	-	2	349	c.239T>C	c.(238-240)cTa>cCa	p.L80P		NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	80					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCCTGCCAGTAGATCGGAGGC	0.592000													10	25					0	0	0.006214	0	0
MYH2	4620	broad.mit.edu	37	17	10433037	10433037	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10433037C>T	ENST00000245503.5	-	24	3345	c.2961G>A	c.(2959-2961)gaG>gaA	p.E987E	MYH2_ENST00000397183.2_Silent_p.E987E|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	987					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GACCTGCCATCTCTTCTGTGA	0.493000													18	121					0	0	0.002299	0	0
PLAC8L1	153770	broad.mit.edu	37	5	145464086	145464086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:145464086G>A	ENST00000311450.4	-	4	500	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	148										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGCAGATGGAAAAAGCCCA	0.517000													5	50					0	0	0.000602	0	0
SPOCD1	90853	broad.mit.edu	37	1	32279800	32279800	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:32279800C>T	ENST00000360482.2	-	2	1264	c.1135G>A	c.(1135-1137)Gga>Aga	p.G379R	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.G379R|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G379R	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	379					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GCAGCGAGTCCTTGCTCCAGC	0.682000													3	9					0	0	0.004672	0	0
PYGM	5837	broad.mit.edu	37	11	64526175	64526175	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:64526175C>T	ENST00000164139.3	-	2	643	c.243_splice	c.e2-1	p.R82_splice	PYGM_ENST00000377432.3_Intron	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	82					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GTAGTAGATCCTCTGCCCAGA	0.602000													8	32					0	0	0.006214	0	0
DMD	1756	broad.mit.edu	37	X	32519904	32519904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:32519904G>A	ENST00000357033.4	-	19	2554	c.2348C>T	c.(2347-2349)tCa>tTa	p.S783L	DMD_ENST00000378677.2_Missense_Mutation_p.S779L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	783					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGCCTGAGCTGATCTGCTGGC	0.408000													9	8					0	0	0.004482	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323128	79323128	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:79323128C>T	ENST00000428286.1	-	8	4185	c.2985G>A	c.(2983-2985)ggG>ggA	p.G995G	PRUNE2_ENST00000376718.3_Silent_p.G1354G			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1354					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.G1354G(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTTCAGAAATCCCTGAGGCAT	0.498000													4	43					0	0	0.000248	0	0
ECHDC3	79746	broad.mit.edu	37	10	11805377	11805377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:11805377C>T	ENST00000379215.4	+	5	957	c.746C>T	c.(745-747)tCc>tTc	p.S249F	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969.2	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	249						mitochondrion	catalytic activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						CCGGTGGTGTCCCTGGGCAAA	0.647000													6	37					0	0	0.001984	0	0
EMILIN2	84034	broad.mit.edu	37	18	2885068	2885068	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:2885068C>T	ENST00000254528.3	+	3	523	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	122					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCAAGAAGGTCCCAAAGACCC	0.507000													5	40					0	0	0.000602	0	0
GARNL3	84253	broad.mit.edu	37	9	130152978	130152978	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:130152978C>T	ENST00000373387.4	+	27	3154	c.2802C>T	c.(2800-2802)ccC>ccT	p.P934P	GARNL3_ENST00000314904.5_3'UTR|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Silent_p.P912P	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	934					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AATCAAAACCCCGGAAGCGGT	0.572000													10	72					0	0	0.006214	0	0
CEP70	80321	broad.mit.edu	37	3	138219580	138219580	+	Silent	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:138219580T>C	ENST00000264982.3	-	14	1631	c.1365A>G	c.(1363-1365)gaA>gaG	p.E455E	CEP70_ENST00000481834.1_Silent_p.E455E|CEP70_ENST00000542237.1_Silent_p.E435E|CEP70_ENST00000489254.1_Silent_p.E303E|CEP70_ENST00000484888.1_Silent_p.E455E	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	455					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GTATTACCTTTTCCTTATTTT	0.313000													17	188					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179606133	179606133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179606133C>T	ENST00000589042.1	-	48	12051	c.11827G>A	c.(11827-11829)Gag>Aag	p.E3943K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3580K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E3772K|TTN_ENST00000359218.5_Missense_Mutation_p.E3705K|TTN_ENST00000591111.1_Missense_Mutation_p.E3626K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3626							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTTTAACTCCTTAAGGAAG	0.463000													17	119					0	0	0.006122	0	0
LRRN1	57633	broad.mit.edu	37	3	3887163	3887163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:3887163G>A	ENST00000319331.3	+	2	1599	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	280						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CAAAATCCAAGAAGGGGACTT	0.408000													12	66					0	0	0.001855	0	0
OR2A5	393046	broad.mit.edu	37	7	143748174	143748174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:143748174G>A	ENST00000408906.2	+	1	714	c.680G>A	c.(679-681)aGg>aAg	p.R227K		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	227				R -> G (in Ref. 3; AAC39630 and 4; AAK95080).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GCCATCTTGAGGATCCAGTCT	0.592000													10	94					0	0	0.000978	0	0
RAD23B	5887	broad.mit.edu	37	9	110086240	110086240	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:110086240C>T	ENST00000358015.3	+	8	1238	c.887C>T	c.(886-888)cCt>cTt	p.P296L	RAD23B_ENST00000416373.2_Missense_Mutation_p.P224L	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	296	STI1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CAGCAGAATCCTTCCTTGCTT	0.378000								Direct reversal of damage;Nucleotide excision repair (NER)					5	83					0	0	0.000602	0	0
FKBP5	2289	broad.mit.edu	37	6	35543668	35543668	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:35543668C>T	ENST00000536438.1	-	12	1633	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	FKBP5_ENST00000540787.1_Missense_Mutation_p.E261K|FKBP5_ENST00000539068.1_Missense_Mutation_p.E440K|FKBP5_ENST00000357266.4_Missense_Mutation_p.E440K	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	440					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						GTTCCTTTTTCATTAGTGACC	0.468000													39	196					0	0	0.002852	0	0
NOP2	4839	broad.mit.edu	37	12	6675733	6675733	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:6675733G>A	ENST00000541778.1	-	4	688	c.200C>T	c.(199-201)tCt>tTt	p.S67F	NOP2_ENST00000542015.1_Intron|NOP2_ENST00000540228.1_Missense_Mutation_p.S67F|NOP2_ENST00000545915.1_Missense_Mutation_p.S67F|NOP2_ENST00000545200.1_Missense_Mutation_p.S67F|NOP2_ENST00000537442.1_Missense_Mutation_p.S67F|NOP2_ENST00000399466.2_Missense_Mutation_p.S67F|NOP2_ENST00000382421.3_Missense_Mutation_p.S67F|NOP2_ENST00000322166.5_Missense_Mutation_p.S67F			P46087	NOP2_HUMAN	NOP2 nucleolar protein	67					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						GGCCTCAGGAGACTTATTTGT	0.488000													9	65					0	0	0.008291	0	0
FRG2B	441581	broad.mit.edu	37	10	135440217	135440217	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:135440217G>A	ENST00000443774.1	-	1	79	c.30C>T	c.(28-30)ctC>ctT	p.L10L	FRG2B_ENST00000425520.1_Silent_p.L10L			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	10						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AGGAGCAGTGGAGATCGGGGT	0.498000													7	192					0	0	0.003080	0	0
PLAG1	5324	broad.mit.edu	37	8	57078988	57078988	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:57078988G>A	ENST00000316981.3	-	5	1796	c.1317C>T	c.(1315-1317)agC>agT	p.S439S	PLAG1_ENST00000423799.2_Silent_p.S357S|PLAG1_ENST00000429357.2_Silent_p.S439S	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	439	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TCATTCCAAGGCTCCCCACTG	0.458000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								7	68					0	0	0.001984	0	0
NSUN5	55695	broad.mit.edu	37	7	72718364	72718364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:72718364G>A	ENST00000428206.1	-	7	696	c.683C>T	c.(682-684)tCc>tTc	p.S228F	NSUN5_ENST00000310326.8_Missense_Mutation_p.S266F|NSUN5_ENST00000252594.6_Missense_Mutation_p.S266F|NSUN5_ENST00000438747.2_Missense_Mutation_p.S266F	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	266							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CGTGGCCATGGATGCCAGCCG	0.627000													7	36					0	0	0.003080	0	0
CDH7	1005	broad.mit.edu	37	18	63489411	63489411	+	Silent	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:63489411A>T	ENST00000536984.2	+	5	1414	c.720A>T	c.(718-720)ggA>ggT	p.G240G	CDH7_ENST00000323011.3_Silent_p.G240G|CDH7_ENST00000397968.2_Silent_p.G240G			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	240	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GTCAAAATGGAGGACTGTCAG	0.433000													4	20					0	0	0.000248	0	0
PACSIN2	11252	broad.mit.edu	37	22	43280453	43280453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:43280453G>A	ENST00000263246.3	-	6	925	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	PACSIN2_ENST00000337959.4_Missense_Mutation_p.R242C|PACSIN2_ENST00000402229.1_Missense_Mutation_p.R242C|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000403744.3_Missense_Mutation_p.R242C|PACSIN2_ENST00000407585.1_Missense_Mutation_p.R242C	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	242					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CGGAAGAAGCGAAGGCGTTTC	0.527000													30	57					0	0	0.001786	0	0
HPSE2	60495	broad.mit.edu	37	10	100249954	100249954	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:100249954C>T	ENST00000370552.3	-	10	1380		c.e10-1		HPSE2_ENST00000370549.1_Splice_Site|HPSE2_ENST00000370546.1_Splice_Site|HPSE2_ENST00000404542.1_Splice_Site	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2						carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GCCAGTAGTCCTGAGGAGAAT	0.577000													8	50					0	0	0.000978	0	0
RAB5B	5869	broad.mit.edu	37	12	56385228	56385228	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:56385228C>T	ENST00000360299.5	+	5	744	c.523C>T	c.(523-525)Ctg>Ttg	p.L175L	RAB5B_ENST00000553116.1_Silent_p.L175L|RAB5B_ENST00000448789.2_Silent_p.L134L	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	175					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			TGATCTCTTCCTGGCAATAGG	0.458000													7	56					0	0	0.006214	0	0
CR2	1380	broad.mit.edu	37	1	207644767	207644767	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:207644767G>A	ENST00000367057.3	+	9	1682		c.e9-1		CR2_ENST00000458541.2_Intron|CR2_ENST00000367058.3_Splice_Site|CR2_ENST00000367059.3_Splice_Site	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2						complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCTGTCTCTAGGTACAAGTTA	0.438000													7	73					0	0	0.006214	0	0
LY6G6D	58530	broad.mit.edu	37	6	31683147	31683147	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:31683147T>G	ENST00000375825.3	+	1	15	c.15T>G	c.(13-15)ttT>ttG	p.F5L	LY6G6F_ENST00000556581.1_Intron|MEGT1_ENST00000503322.1_Intron	NM_021246.2	NP_067069.2			lymphocyte antigen 6 complex, locus G6D											central_nervous_system(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						AACCCCAGTTTGTTGGGATCT	0.657000													22	272					0	0	0.004656	0	0
C10orf120	399814	broad.mit.edu	37	10	124457458	124457458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:124457458G>A	ENST00000329446.4	-	3	830	c.799C>T	c.(799-801)Ctc>Ttc	p.L267F		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	267										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TTTGCGGGGAGGAATGATTTG	0.368000													5	59					0	0	0.001168	0	0
SIK1	150094	broad.mit.edu	37	21	44837515	44837515	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:44837515G>A	ENST00000270162.6	-	13	2016	c.1884C>T	c.(1882-1884)ttC>ttT	p.F628F		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	628					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CAGGGGCGTGGAAGGGGCTCA	0.711000													4	10					0	0	0.000248	0	0
CRIM1	51232	broad.mit.edu	37	2	36740748	36740748	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:36740748C>T	ENST00000280527.2	+	11	2197	c.1830C>T	c.(1828-1830)acC>acT	p.T610T		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	610	VWFC 3.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CTTGTCTCACCGTGGATGGTC	0.552000													6	79					0	0	0.003080	0	0
SNURF	8926	broad.mit.edu	37	15	25213133	25213133	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:25213133C>T	ENST00000338094.6	+	3	226	c.165C>T	c.(163-165)ttC>ttT	p.F55F	SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNURF_ENST00000338327.4_Silent_p.F55F|SNURF_ENST00000577949.1_Silent_p.F55F	NM_003097.3|NM_005678.3	NP_003088.1|NP_005669.2			SNRPN upstream reading frame											breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		TGGTGGATTTCCAGGCTGAAC	0.438000													5	89					0	0	0.001984	0	0
PCDH15	65217	broad.mit.edu	37	10	55698693	55698693	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:55698693G>A	ENST00000373965.2	-	26	3670	c.3276C>T	c.(3274-3276)atC>atT	p.I1092I	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Silent_p.I1085I|PCDH15_ENST00000409834.1_Silent_p.I696I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Silent_p.I1085I|PCDH15_ENST00000395438.1_Silent_p.I1085I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Silent_p.I1048I|PCDH15_ENST00000395433.1_Silent_p.I1063I|PCDH15_ENST00000361849.3_Silent_p.I1085I|PCDH15_ENST00000395445.1_Silent_p.I1092I|PCDH15_ENST00000414778.1_Silent_p.I1090I|PCDH15_ENST00000437009.1_Silent_p.I1014I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1085	Cadherin 10.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TAACACCTGTGATGTTATTAA	0.378000										HNSCC(58;0.16)			8	37					0	0	0.004482	0	0
PCSK9	255738	broad.mit.edu	37	1	55521729	55521729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:55521729C>T	ENST00000302118.5	+	6	1153	c.863C>T	c.(862-864)cCc>cTc	p.P288L	PCSK9_ENST00000543384.1_Missense_Mutation_p.P88L|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	288	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GTGCTGCTGCCCCTGGCGGGT	0.672000													14	172					0	0	0.003163	0	0
TFAP2E	339488	broad.mit.edu	37	1	36054033	36054033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:36054033C>T	ENST00000373235.3	+	4	873	c.665C>T	c.(664-666)cCc>cTc	p.P222L		NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	222						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGCTCCGTGCCCGGCCGGCTT	0.642000													12	73					0	0	0.000978	0	0
ESRRB	2103	broad.mit.edu	37	14	76965190	76965190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:76965190C>T	ENST00000261532.7	+	8	1490	c.1418C>T	c.(1417-1419)tCt>tTt	p.S473F	ESRRB_ENST00000380887.2_Intron|ESRRB_ENST00000509242.1_Intron|RP11-187O7.3_ENST00000554926.1_lincRNA			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCTCCCCCATCTGTGGCCTGG	0.602000													5	38					0	0	0.001168	0	0
GBP6	163351	broad.mit.edu	37	1	89845982	89845982	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:89845982G>A	ENST00000370456.4	+	6	756	c.663G>A	c.(661-663)agG>agA	p.R221R	GBP6_ENST00000535065.1_Silent_p.R91R	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	221							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ATTTTCCCAGGGAGTGCATCA	0.408000													15	45					0	0	0.004007	0	0
MMP27	64066	broad.mit.edu	37	11	102575311	102575311	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:102575311C>T	ENST00000260229.4	-	2	389	c.298G>A	c.(298-300)Ggc>Agc	p.G100S		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	100					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		AGGGTGTAGCCATACTGGCCC	0.473000													16	50					0	0	0.003163	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130215768	130215768	+	Silent	SNP	C	C	T	rs150725005	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:130215768C>T	ENST00000276211.5	+	2	474	c.129C>T	c.(127-129)ccC>ccT	p.P43P	ARHGAP36_ENST00000370922.1_Silent_p.P31P	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	43					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GACACAACCCCGACCGCAGGA	0.552000													12	74					0	0	0.001855	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433558	69433558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:69433558C>T	ENST00000317746.2	-	1	687	c.645G>A	c.(643-645)atG>atA	p.M215I		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	215					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GCATATATATCATATTTTTTA	0.353000													6	94					0	0	0.001168	0	0
CCDC80	151887	broad.mit.edu	37	3	112358494	112358494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:112358494G>A	ENST00000206423.3	-	2	1212	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Missense_Mutation_p.R87C	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	87										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCTGTTGGGCGAGCTAGTCTC	0.607000													7	64					0	0	0.001984	0	0
CELSR2	1952	broad.mit.edu	37	1	109794276	109794276	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:109794276C>T	ENST00000271332.3	+	1	1636	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	525	Cadherin 4.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ACCTGGTTCTCCATGTCCAGG	0.562000													63	280					0	0	0.003610	0	0
STXBP2	6813	broad.mit.edu	37	19	7703652	7703652	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:7703652G>A	ENST00000441779.2	+	2	115	c.78G>A	c.(76-78)ggG>ggA	p.G26G	STXBP2_ENST00000221283.5_Silent_p.G26G|CTD-3214H19.4_ENST00000595866.1_3'UTR|STXBP2_ENST00000414284.2_Silent_p.G26G	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	26					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGAAGGATGGGGAGTGGAAGG	0.582000													8	51					0	0	0.004482	0	0
HADHB	3032	broad.mit.edu	37	2	26501645	26501645	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:26501645C>T	ENST00000317799.5	+	8	710	c.606C>T	c.(604-606)ttC>ttT	p.F202F	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Intron|HADHB_ENST00000545822.1_Silent_p.F180F|HADHB_ENST00000537713.1_Silent_p.F187F	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	202					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCTAAATTCCGATTTAATT	0.443000													8	56					0	0	0.004482	0	0
SGCG	6445	broad.mit.edu	37	13	23869617	23869617	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:23869617A>C	ENST00000218867.3	+	6	693	c.569A>C	c.(568-570)cAa>cCa	p.Q190P	SGCG_ENST00000545013.1_Missense_Mutation_p.Q190P|SGCG_ENST00000537476.1_Missense_Mutation_p.Q190P	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	190					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GACCCGTTTCAAGACCTTAGG	0.423000													14	69					0	0	0.004007	0	0
PLAGL1	5325	broad.mit.edu	37	6	144262598	144262598	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:144262598G>A	ENST00000360537.2	-	5	3268	c.1355C>T	c.(1354-1356)tCt>tTt	p.S452F	PLAGL1_ENST00000367572.1_Missense_Mutation_p.S400F|PLAGL1_ENST00000437412.1_Missense_Mutation_p.S400F|PLAGL1_ENST00000416623.1_Missense_Mutation_p.S452F|PLAGL1_ENST00000429150.1_Missense_Mutation_p.S452F|PLAGL1_ENST00000354765.2_Missense_Mutation_p.S452F|PLAGL1_ENST00000367571.1_Missense_Mutation_p.S452F|PLAGL1_ENST00000392309.1_Missense_Mutation_p.S452F|PLAGL1_ENST00000444202.1_Missense_Mutation_p.S452F|PLAGL1_ENST00000392307.1_Missense_Mutation_p.S400F			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	452					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		CAGGATGGCAGAGCCAGTGCC	0.493000													32	309					0	0	0.004878	0	0
OR51E1	143503	broad.mit.edu	37	11	4674251	4674251	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:4674251C>T	ENST00000396952.5	+	2	1145	c.495C>T	c.(493-495)ttC>ttT	p.F165F	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCCTGTCTTCATCAAGCAGC	0.552000													9	87					0	0	0.008291	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957318	35957318	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:35957318C>T	ENST00000274278.3	-	5	1404	c.1047G>A	c.(1045-1047)gtG>gtA	p.V349V	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Silent_p.V315V|UGT3A1_ENST00000503189.1_Silent_p.V349V	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	349						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAGCCAGTCCACAATTTTCA	0.498000													10	43					0	0	0.001368	0	0
CLIP4	79745	broad.mit.edu	37	2	29356672	29356672	+	Silent	SNP	G	G	A	rs150045383		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:29356672G>A	ENST00000320081.5	+	5	774	c.519G>A	c.(517-519)tcG>tcA	p.S173S	CLIP4_ENST00000401617.2_Silent_p.S66S|CLIP4_ENST00000404424.1_Silent_p.S173S|CLIP4_ENST00000401605.1_Silent_p.S173S	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	173								p.S173S(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGAAAACATCGAAACCAAAAG	0.328000													5	36					0	0	0.001168	0	0
WDR16	146845	broad.mit.edu	37	17	9497522	9497522	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:9497522G>A	ENST00000352665.5	+	4	489	c.420G>A	c.(418-420)tgG>tgA	p.W140*	WDR16_ENST00000396219.3_Nonsense_Mutation_p.W72*|WDR16_ENST00000299764.5_Nonsense_Mutation_p.W150*	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	140						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TGGTGGTGTGGAGCATAGCCA	0.458000													10	65					0	0	0.008291	0	0
NXPH3	11248	broad.mit.edu	37	17	47656183	47656183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:47656183G>A	ENST00000328741.5	+	2	642	c.280G>A	c.(280-282)Gcc>Acc	p.A94T	NXPH3_ENST00000513748.1_Missense_Mutation_p.A94T	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	94	III.				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CCCACCCTCAGCCAAGGTGAA	0.617000													4	27					0	0	0.000248	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8436235	8436235	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:8436235T>C	ENST00000301455.2	+	6	1039	c.868T>C	c.(868-870)Tcc>Ccc	p.S290P	ANGPTL4_ENST00000541807.1_Missense_Mutation_p.S123P|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.S252P	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	290	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						GCTGCAGTTCTCCGTGCACCT	0.692000													7	22					0	0	0.001984	0	0
OTUD4	54726	broad.mit.edu	37	4	146092826	146092826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:146092826G>A	ENST00000454497.2	-	3	232	c.95C>T	c.(94-96)cCa>cTa	p.P32L	OTUD4_ENST00000296579.6_Missense_Mutation_p.P32L|OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Missense_Mutation_p.P97L|OTUD4_ENST00000509620.2_Missense_Mutation_p.P32L	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	97							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACATACCTGTGGATTTTCCAA	0.244000													4	46					0	0	0.000602	0	0
ABCA12	26154	broad.mit.edu	37	2	215851397	215851397	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:215851397G>A	ENST00000272895.7	-	28	4251	c.4032C>T	c.(4030-4032)gtC>gtT	p.V1344V	ABCA12_ENST00000389661.4_Silent_p.V1026V	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1344					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGGCAACCCCGACTGTGAGAT	0.428000													13	42					0	0	0.001855	0	0
PDLIM3	27295	broad.mit.edu	37	4	186435444	186435444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:186435444G>A	ENST00000284767.5	-	5	633	c.566C>T	c.(565-567)tCg>tTg	p.S189L	PDLIM3_ENST00000284770.5_Silent_p.F126F|PDLIM3_ENST00000284771.6_Intron			Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	0						sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CCGGGATCACGAAAGGTTTGG	0.463000													21	66					0	0	0.003330	0	0
DNAH9	1770	broad.mit.edu	37	17	11757612	11757612	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:11757612C>A	ENST00000262442.3	+	50	9868	c.9800C>A	c.(9799-9801)tCc>tAc	p.S3267Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.S3267Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3267	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S3267Y(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCCTCTGCTCCTGGGTCATC	0.547000													7	136					0.00307968	0.00347107	0.003080	1	0
OR4M1	441670	broad.mit.edu	37	14	20249284	20249284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:20249284C>T	ENST00000315957.4	+	1	884	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GACTCATTTTCCCTAGATAAA	0.418000													7	117					0	0	0.001984	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698474	96698474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:96698474C>T	ENST00000260682.6	+	1	47	c.35C>T	c.(34-36)tCa>tTa	p.S12L	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	12					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CTCTGTCTCTCATGTTTGCTT	0.473000													29	142					0	0	0.008361	0	0
IGSF9	57549	broad.mit.edu	37	1	159907562	159907562	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:159907562C>T	ENST00000368094.1	-	4	511	c.314G>A	c.(313-315)tGg>tAg	p.W105*	IGSF9_ENST00000361509.3_Nonsense_Mutation_p.W105*	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	105	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCACTCGTACCAGCCCTGGTC	0.592000													5	40					0	0	0.001168	0	0
PTPRD	5789	broad.mit.edu	37	9	8389358	8389358	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:8389358C>T	ENST00000381196.4	-	34	4803	c.4260G>A	c.(4258-4260)agG>agA	p.R1420R	PTPRD_ENST00000540109.1_Silent_p.R1420R|PTPRD_ENST00000537002.1_Silent_p.R1010R|PTPRD_ENST00000358503.5_Silent_p.R1398R|PTPRD_ENST00000486161.1_Silent_p.R1013R|PTPRD_ENST00000356435.5_Silent_p.R1420R|PTPRD_ENST00000355233.5_Silent_p.R1014R|PTPRD_ENST00000397606.3_Silent_p.R1013R|PTPRD_ENST00000397611.3_Silent_p.R1010R|PTPRD_ENST00000397617.3_Silent_p.R1013R|PTPRD_ENST00000360074.4_Silent_p.R1407R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1420	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CATTTTGCTTCCTATACCCAT	0.448000										TSP Lung(15;0.13)			10	77					0	0	0.008291	0	0
CSMD3	114788	broad.mit.edu	37	8	113353862	113353862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:113353862C>T	ENST00000297405.5	-	42	6740	c.6496G>A	c.(6496-6498)Gaa>Aaa	p.E2166K	CSMD3_ENST00000343508.3_Missense_Mutation_p.E2126K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E2096K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E2062K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2166	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTCGTACTTCCAAATAATCA	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	35					0	0	0.001168	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433980	72433980	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:72433980T>A	ENST00000373517.3	-	1	704	c.349A>T	c.(349-351)Aag>Tag	p.K117*	NAP1L2_ENST00000536638.1_5'UTR	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	117					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GTTTGAAGCTTTTTAAGGGCT	0.388000													12	21					0	0	0.000978	0	0
GABRB3	2562	broad.mit.edu	37	15	26825523	26825523	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:26825523G>A	ENST00000541819.2	-	7	895	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S	GABRB3_ENST00000400188.3_Missense_Mutation_p.P138S|GABRB3_ENST00000545868.1_Missense_Mutation_p.P124S|GABRB3_ENST00000299267.4_Missense_Mutation_p.P209S|GABRB3_ENST00000311550.5_Missense_Mutation_p.P209S			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	209					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAGAACTGCGGGAGCTCAATC	0.562000													10	61					0	0	0.006214	0	0
KCNIP4	80333	broad.mit.edu	37	4	20852243	20852243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:20852243C>T	ENST00000382148.3	-	2	472	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	KCNIP4_ENST00000382150.4_Missense_Mutation_p.E50K|KCNIP4_ENST00000447367.2_Missense_Mutation_p.E37K|KCNIP4_ENST00000509207.1_Missense_Mutation_p.E9K|KCNIP4_ENST00000382152.2_Missense_Mutation_p.E71K|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000359001.5_Missense_Mutation_p.E9K	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	71						plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TCAAGGGCTTCAGGCCGATGC	0.468000													16	31					0	0	0.004990	0	0
GRB7	2886	broad.mit.edu	37	17	37902204	37902204	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:37902204T>C	ENST00000309156.4	+	13	1566	c.1309T>C	c.(1309-1311)Tcc>Ccc	p.S437P	GRB7_ENST00000394204.1_Intron|GRB7_ENST00000394211.3_Missense_Mutation_p.S437P|GRB7_ENST00000445327.2_Missense_Mutation_p.S460P|GRB7_ENST00000394209.2_Missense_Mutation_p.S437P|GRB7_ENST00000309185.3_Intron	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	437	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGGGCGCATTTCCCGTGAGGA	0.627000													11	100					0	0	0.003163	0	0
OSBP2	23762	broad.mit.edu	37	22	31091213	31091213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:31091213C>T	ENST00000332585.6	+	1	421	c.317C>T	c.(316-318)cCg>cTg	p.P106L	OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000446658.2_Missense_Mutation_p.P106L|OSBP2_ENST00000382310.3_Missense_Mutation_p.P106L|OSBP2_ENST00000403222.3_Intron	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	106					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GGGTCGCGGCCGGGGTCAGAG	0.677000													11	49					0	0	0.001855	0	0
BAIAP2L2	80115	broad.mit.edu	37	22	38483257	38483257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:38483257G>A	ENST00000381669.3	-	11	1277	c.1133C>T	c.(1132-1134)cCc>cTc	p.P378L		NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	378	SH3.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					GTACGCCTCGGGGAACCAACC	0.602000													8	33					0	0	0.008291	0	0
WBP2NL	164684	broad.mit.edu	37	22	42422778	42422778	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:42422778T>C	ENST00000328823.9	+	6	554	c.523T>C	c.(523-525)Tat>Cat	p.Y175H	WBP2NL_ENST00000543212.1_Missense_Mutation_p.Y101H	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	175	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						AGTTATTGTCTATGGAGCCCC	0.463000													4	120					0	0	0.000602	0	0
ANGPT4	51378	broad.mit.edu	37	20	896687	896687	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:896687C>T	ENST00000381922.3	-	1	273	c.171G>A	c.(169-171)ccG>ccA	p.P57P	ANGPT4_ENST00000546022.1_Silent_p.P57P	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	57					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CCTCAGGCCCCGGAGGGCAGG	0.617000													15	65					0	0	0.008871	0	0
SFTPB	6439	broad.mit.edu	37	2	85894825	85894825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:85894825C>T	ENST00000342375.3	-	3	307	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	SFTPB_ENST00000519937.2_Missense_Mutation_p.E58K|SFTPB_ENST00000393822.3_Missense_Mutation_p.E70K|SFTPB_ENST00000409383.1_Missense_Mutation_p.E70K	NM_000542.3|NM_198843.2	NP_000533.3|NP_942140.2	P07988	PSPB_HUMAN	surfactant protein B	58	Saposin A-type.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						CCCCAGACTTCCTGTAGGCAA	0.607000													13	118					0	0	0.003163	0	0
KERA	11081	broad.mit.edu	37	12	91449715	91449715	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:91449715C>T	ENST00000266719.3	-	2	591	c.344G>A	c.(343-345)gGa>gAa	p.G115E		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	115					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GCTTAGGGCTCCTTTTTCAAT	0.388000													8	65					0	0	0.004482	0	0
ANKRD40	91369	broad.mit.edu	37	17	48773374	48773374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:48773374G>A	ENST00000285243.6	-	5	1360	c.1091C>T	c.(1090-1092)tCa>tTa	p.S364L		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	364										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			AGTCAGTTTTGAAGCTCTCCT	0.428000													13	54					0	0	0.002450	0	0
PISD	23761	broad.mit.edu	37	22	32017037	32017037	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:32017037G>A	ENST00000382151.2	-	6	1106	c.687C>T	c.(685-687)taC>taT	p.Y229Y	PISD_ENST00000478893.1_5'UTR|PISD_ENST00000266095.5_Silent_p.Y229Y|PISD_ENST00000439502.2_Silent_p.Y263Y|PISD_ENST00000397500.1_Silent_p.Y229Y|PISD_ENST00000336566.4_Silent_p.Y262Y			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	263					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	GGAAGCAGTGGTAGTCCCCAG	0.642000											OREG0003530	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	37					0	0	0.001984	0	0
TMEM204	79652	broad.mit.edu	37	16	1604801	1604801	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:1604801G>A	ENST00000566264.1	+	3	1158	c.455G>A	c.(454-456)gGg>gAg	p.G152E	IFT140_ENST00000426508.2_Intron|IFT140_ENST00000439987.2_Intron|TMEM204_ENST00000253934.5_Missense_Mutation_p.G152E	NM_024600.5	NP_078876.2	Q9BSN7	TM204_HUMAN	transmembrane protein 204	152					response to stress	adherens junction|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				CTGGTCATCGGGCTCGTGACT	0.582000													6	76					0	0	0.001168	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935336	151935336	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:151935336G>A	ENST00000393902.3	-	3	1398	c.831C>T	c.(829-831)gcC>gcT	p.A277A	MAGEA3_ENST00000370278.3_Silent_p.A277A			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	277	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCAACGAGGGCCCTTGGAC	0.527000													32	48					0	0	0.002445	0	0
LANCL3	347404	broad.mit.edu	37	X	37526710	37526710	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:37526710G>A	ENST00000378621.3	+	4	1373	c.1071G>A	c.(1069-1071)acG>acA	p.T357T	LANCL3_ENST00000378619.3_Silent_p.T357T|TM4SF2_ENST00000465127.1_Intron	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	357							catalytic activity			lung(4)|pancreas(1)	5						ACCGGCTCACGGGAAACTCTA	0.433000													9	11					0	0	0.004482	0	0
MYO9A	4649	broad.mit.edu	37	15	72189838	72189838	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:72189838A>G	ENST00000356056.5	-	25	5478	c.5006T>C	c.(5005-5007)aTt>aCt	p.I1669T	MYO9A_ENST00000566885.1_Missense_Mutation_p.I1289T|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.I1669T|MYO9A_ENST00000444904.1_Missense_Mutation_p.I1650T|MYO9A_ENST00000564571.1_Missense_Mutation_p.I1669T	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1669	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGTGAAGAAAATGGGCCTAGC	0.373000													10	61					0	0	0.006214	0	0
E2F3	1871	broad.mit.edu	37	6	20490568	20490568	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:20490568C>T	ENST00000346618.3	+	7	1371	c.1305C>T	c.(1303-1305)ctC>ctT	p.L435L	E2F3_ENST00000535432.1_Silent_p.L304L	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	435	Retinoblastoma protein binding (Potential).|Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			AGGACTATCTCCTGAGCCTCG	0.512000													39	404					0	0	0.008740	0	0
KCNQ4	9132	broad.mit.edu	37	1	41300652	41300652	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:41300652C>T	ENST00000347132.5	+	12	1709	c.1627C>T	c.(1627-1629)Ctg>Ttg	p.L543L	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Silent_p.L489L	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	543					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TCTCAAGTTCCTGGTGGCCAA	0.557000													11	50					0	0	0.000978	0	0
STXBP5L	9515	broad.mit.edu	37	3	120673799	120673799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:120673799G>A	ENST00000273666.6	+	3	473	c.202G>A	c.(202-204)Ggt>Agt	p.G68S	STXBP5L_ENST00000471454.1_Missense_Mutation_p.G68S|STXBP5L_ENST00000472879.1_Missense_Mutation_p.G68S|STXBP5L_ENST00000497029.1_Missense_Mutation_p.G68S|STXBP5L_ENST00000492541.1_Missense_Mutation_p.G68S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	68					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGTTCGGCATGGTTTTCCTCA	0.378000													6	45					0	0	0.003080	0	0
ELOVL3	83401	broad.mit.edu	37	10	103987396	103987396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:103987396C>T	ENST00000370005.3	+	2	336	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	39					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		AACCTCATTCCCCATAGCCCT	0.562000													12	66					0	0	0.001368	0	0
ATP7B	540	broad.mit.edu	37	13	52524464	52524464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:52524464G>A	ENST00000242839.4	-	10	2675	c.2519C>T	c.(2518-2520)cCa>cTa	p.P840L	ATP7B_ENST00000418097.2_Missense_Mutation_p.P840L|ATP7B_ENST00000448424.2_Missense_Mutation_p.P762L|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000417240.2_Missense_Mutation_p.P112L|ATP7B_ENST00000400366.3_Missense_Mutation_p.P729L|ATP7B_ENST00000344297.5_Missense_Mutation_p.P678L	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	840			P -> L (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CCCATCCACTGGAAACTTTCC	0.532000									Wilson disease				10	33					0	0	0.006214	0	0
TDRD9	122402	broad.mit.edu	37	14	104490932	104490932	+	Missense_Mutation	SNP	C	C	A	rs139118201	by1000genomes	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:104490932C>A	ENST00000409874.4	+	25	2681	c.2633C>A	c.(2632-2634)aCg>aAg	p.T878K	TDRD9_ENST00000339063.5_Missense_Mutation_p.T878K	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	878					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CAGAAGCAGACGGTAGATCCT	0.343000													12	53					2.94398e-08	3.33981e-08	0.007413	1	0
SUN1	23353	broad.mit.edu	37	7	893212	893212	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:893212C>T	ENST00000456758.2	+	16	1787	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L	SUN1_ENST00000425407.2_Missense_Mutation_p.P324L|SUN1_ENST00000413514.2_Missense_Mutation_p.P216L|SUN1_ENST00000405266.1_Missense_Mutation_p.P444L|SUN1_ENST00000452783.2_Missense_Mutation_p.P304L|SUN1_ENST00000401592.1_Missense_Mutation_p.P407L|SUN1_ENST00000389574.3_Missense_Mutation_p.P324L			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	434					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCTGCCGGGCCGTCAGCTTCG	0.652000													6	31					0	0	0.001168	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535625	90535625	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:90535625C>T	ENST00000602681.1	+	0	1529																											AGCTTGTCTCCACGTGAGGAT	0.572000													10	93					0	0	0.001368	0	0
LAMA3	3909	broad.mit.edu	37	18	21469985	21469985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:21469985G>A	ENST00000313654.9	+	42	5555	c.5314G>A	c.(5314-5316)Gga>Aga	p.G1772R	LAMA3_ENST00000399516.3_Missense_Mutation_p.G1772R|LAMA3_ENST00000269217.6_Missense_Mutation_p.G163R|LAMA3_ENST00000587184.1_Missense_Mutation_p.G163R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1772	Domain III A.|Laminin EGF-like 14.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGTGCACCGGGATATTTCGG	0.473000													6	89					0	0	0.001984	0	0
OR2L3	391192	broad.mit.edu	37	1	248224163	248224163	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248224163C>T	ENST00000359959.3	+	1	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCATGTATTTCCTACTTAGTC	0.403000													21	300					0	0	0.003330	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307958	39307958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:39307958C>T	ENST00000541347.1	-	2	282	c.43G>A	c.(43-45)Gat>Aat	p.D15N	CX3CR1_ENST00000358309.3_Missense_Mutation_p.D47N|CX3CR1_ENST00000542107.1_Missense_Mutation_p.D15N|CX3CR1_ENST00000399220.2_Missense_Mutation_p.D15N	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	15					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.D15N(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GCCAAATCATCGTACTCAAAG	0.448000													11	20					0	0	0.000978	0	0
OR4A15	81328	broad.mit.edu	37	11	55135936	55135936	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:55135936C>T	ENST00000314706.3	+	1	577	c.577C>T	c.(577-579)Cag>Tag	p.Q193*		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTTTATTTATCAGCTCCCTTT	0.428000													8	85					0	0	0.000978	0	0
IGLV3-16	28799	broad.mit.edu	37	22	23090297	23090297	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:23090297G>A	ENST00000390311.2	+	0	274																											ATCCCTGAGCGATTCTCTGGC	0.502000													8	29					0	0	0.004482	0	0
CARF	79800	broad.mit.edu	37	2	203826198	203826198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:203826198C>T	ENST00000444724.1	+	8	1161	c.881C>T	c.(880-882)cCa>cTa	p.P294L	CARF_ENST00000434998.1_Missense_Mutation_p.P192L|CARF_ENST00000438828.2_Intron|CARF_ENST00000456821.2_Intron|CARF_ENST00000320443.8_Intron|CARF_ENST00000545262.1_Intron|CARF_ENST00000471271.1_Intron|CARF_ENST00000545253.1_Intron|CARF_ENST00000402905.2_Intron|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Intron|CARF_ENST00000414439.1_Intron					calcium responsive transcription factor																		AGCCATAGTCCATTGTCAAAA	0.299000													10	33					0	0	0.008291	0	0
PRKAA1	5562	broad.mit.edu	37	5	40764857	40764857	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:40764857C>T	ENST00000397128.2	-	7	1313	c.1305G>A	c.(1303-1305)tgG>tgA	p.W435*	PRKAA1_ENST00000354209.3_Nonsense_Mutation_p.W450*	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	435					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TTCTTACCTTCCATTCATAAT	0.294000													6	21					0	0	0.001168	0	0
PTCH2	8643	broad.mit.edu	37	1	45293110	45293110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:45293110G>A	ENST00000447098.2	-	15	2346	c.2335C>T	c.(2335-2337)Cgc>Tgc	p.R779C	PTCH2_ENST00000372192.3_Missense_Mutation_p.R779C	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	779					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					AGCCAGGTGCGGGGTGCCTGG	0.662000									Basal Cell Nevus syndrome				5	33					0	0	0.001168	0	0
NDUFV3	4731	broad.mit.edu	37	21	44324001	44324001	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:44324001C>T	ENST00000354250.2	+	3	948	c.879C>T	c.(877-879)gtC>gtT	p.V293V	NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	CCTTACCTGTCCACACAAAAT	0.468000													7	93					0	0	0.003080	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171773190	171773190	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:171773190G>A	ENST00000311601.5	-	12	1308	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*	SH3PXD2B_ENST00000519643.1_Nonsense_Mutation_p.Q380*	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	380	SH3 3.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATGGTTGTCTGGAATTCGGCG	0.577000													27	77					0	0	0.008361	0	0
FLG2	388698	broad.mit.edu	37	1	152326405	152326405	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:152326405T>C	ENST00000388718.5	-	3	3929	c.3857A>G	c.(3856-3858)cAc>cGc	p.H1286R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1286	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAATGTCTGTGTGAGACCTT	0.478000													20	229					0	0	0.008871	0	0
FILIP1	27145	broad.mit.edu	37	6	76022611	76022611	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:76022611G>A	ENST00000393004.2	-	5	3158	c.2937C>T	c.(2935-2937)tcC>tcT	p.S979S	FILIP1_ENST00000370020.1_Silent_p.S880S|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.S979S			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	979										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTGTGACTGGGGACATGGCTC	0.443000													9	53					0	0	0.001368	0	0
TMEM132D	121256	broad.mit.edu	37	12	129822269	129822269	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:129822269G>A	ENST00000422113.2	-	4	1535	c.1209C>T	c.(1207-1209)gtC>gtT	p.V403V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	403						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGGGGTACTCGACCTGCCACG	0.577000													14	103					0	0	0.002450	0	0
NOC2L	26155	broad.mit.edu	37	1	881015	881015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:881015G>A	ENST00000327044.6	-	17	1985	c.1936C>T	c.(1936-1938)Cct>Tct	p.P646S		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	646	Asp/Glu-rich (acidic).					nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TTGATCTCAGGGAAGTTCAGG	0.567000													5	74					0	0	0.001168	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19512471	19512471	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:19512471C>T	ENST00000538714.1	+	24	3154	c.3150C>T	c.(3148-3150)ttC>ttT	p.F1050F	PLEKHA5_ENST00000299275.6_Silent_p.F992F|PLEKHA5_ENST00000539256.1_Silent_p.F750F|PLEKHA5_ENST00000317589.4_Silent_p.F1055F|PLEKHA5_ENST00000424268.1_Silent_p.F981F|PLEKHA5_ENST00000359180.3_Silent_p.F936F|PLEKHA5_ENST00000543806.1_Silent_p.F974F|PLEKHA5_ENST00000429027.2_Silent_p.F1158F|PLEKHA5_ENST00000355397.3_Silent_p.F1050F	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	992							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATGTGGACTTCAGCAAAGAGG	0.358000													7	11					0	0	0.003080	0	0
THSD1	55901	broad.mit.edu	37	13	52960230	52960230	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:52960230G>C	ENST00000258613.4	-	4	1291	c.1113C>G	c.(1111-1113)ttC>ttG	p.F371L	THSD1_ENST00000349258.4_Intron|THSD1_ENST00000544466.1_5'UTR	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	371	TSP type-1.					extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GACTGGAGGGGAAGGAAGTGA	0.582000													8	68					0	0	0.004482	0	0
E2F1	1869	broad.mit.edu	37	20	32268192	32268192	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:32268192G>A	ENST00000343380.5	-	2	431	c.292C>T	c.(292-294)Cat>Tat	p.H98Y		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	98	Cyclin A/CDK2 binding.			KRRLDLETDHQYLAESSGPARGR -> RTPGTPRRQRRLCP PRRPGRAPC (in Ref. 8; AAD14150).	apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						AGGTACTGATGGTCAGTTTCC	0.617000													6	41					0	0	0.003080	0	0
ITGA5	3678	broad.mit.edu	37	12	54797424	54797424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:54797424C>T	ENST00000293379.4	-	17	2022	c.1761G>A	c.(1759-1761)atG>atA	p.M587I	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	587					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GGTAGATCTTCATCTCTCTGC	0.622000													5	53					0	0	0.001168	0	0
NOC4L	79050	broad.mit.edu	37	12	132636059	132636059	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:132636059C>T	ENST00000330579.1	+	12	1145	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	NOC4L_ENST00000538784.1_5'UTR|NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	368					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		TGGCCGCCTTCGCCAAGCGGC	0.721000													4	19					0	0	0.000602	0	0
ATP8B2	57198	broad.mit.edu	37	1	154315303	154315303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:154315303C>T	ENST00000368489.3	+	15	1418	c.1418C>T	c.(1417-1419)cCt>cTt	p.P473L		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	459					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCTTCAATCCTCTGGCTGAC	0.547000													16	76					0	0	0.004007	0	0
IFIH1	64135	broad.mit.edu	37	2	163124040	163124040	+	Silent	SNP	C	C	T	rs77041372		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:163124040C>T	ENST00000263642.2	-	15	3242	c.2847G>A	c.(2845-2847)aaG>aaA	p.K949K		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	949					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CGGCACACTTCTTTTGCAGTG	0.383000													5	41					0	0	0.001168	0	0
FAM188B	84182	broad.mit.edu	37	7	30876318	30876318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:30876318C>T	ENST00000265299.6	+	7	1254	c.1177C>T	c.(1177-1179)Cca>Tca	p.P393S	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	393										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATCCTGTCGCCAGTCCCATC	0.473000													21	115					0	0	0.003954	0	0
NWD1	284434	broad.mit.edu	37	19	16884103	16884103	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:16884103C>T	ENST00000524140.2	+	11	2995	c.2577C>T	c.(2575-2577)ccC>ccT	p.P859P	NWD1_ENST00000523826.1_Silent_p.P653P|NWD1_ENST00000339803.6_Silent_p.P724P|NWD1_ENST00000379808.3_Silent_p.P859P|NWD1_ENST00000549814.1_Silent_p.P859P|NWD1_ENST00000552788.1_Silent_p.P859P	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	859							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGGGAGGACCCCTCCGGGCAA	0.637000													5	13					0	0	0.001168	0	0
KCTD16	57528	broad.mit.edu	37	5	143853417	143853417	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:143853417G>A	ENST00000507359.2	+	3	2118	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N	KCTD16_ENST00000512467.1_Missense_Mutation_p.D343N	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	343						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CCAGACTCTGGACCGTCCCAT	0.592000													5	34					0	0	0.001168	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032776	46032776	+	Silent	SNP	G	G	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:46032776G>C	ENST00000334662.2	+	1	781	c.759G>C	c.(757-759)gcG>gcC	p.A253A	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	253						keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						gccgccccgcgtgctcccgcc	0.711000													4	15					0	0	0.000248	0	0
KMT2D	8085	broad.mit.edu	37	12	49444864	49444864	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:49444864G>C	ENST00000301067.7	-	10	2601	c.2602C>G	c.(2602-2604)Cct>Gct	p.P868A		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGCTCCTCAGGGGGCTTTTCA	0.647000													11	72					0	0	0.008291	0	0
UBASH3A	53347	broad.mit.edu	37	21	43838637	43838637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:43838637C>T	ENST00000319294.6	+	7	996	c.965C>T	c.(964-966)tCa>tTa	p.S322L	UBASH3A_ENST00000291535.6_Missense_Mutation_p.S284L|UBASH3A_ENST00000398367.1_Missense_Mutation_p.S284L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	322	SH3.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ATTGGGATCTCACAGCGGACG	0.612000													9	33					0	0	0.006214	0	0
JAG1	182	broad.mit.edu	37	20	10621793	10621793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:10621793G>A	ENST00000254958.5	-	24	3531	c.3016C>T	c.(3016-3018)Cct>Tct	p.P1006S	JAG1_ENST00000423891.2_Missense_Mutation_p.P847S	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1006					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TTCGCTGAAGGGGAAGGCTCG	0.418000									Alagille Syndrome				4	48					0	0	0.000248	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138647	126138647	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:126138647G>A	ENST00000299308.3	+	9	2636	c.2628G>A	c.(2626-2628)ggG>ggA	p.G876G	TMEM132B_ENST00000535886.1_Silent_p.G388G	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	876						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCACTCAAGGGAAGTCACCGG	0.512000													6	30					0	0	0.001168	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180751	142180751	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:142180751C>T	ENST00000390368.2	-	0	173																											GTGTCATGCTCTGTCCTGTCT	0.517000													16	168					0	0	0.004990	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925124	54925124	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:54925124C>T	ENST00000293373.6	+	23	2666	c.2587C>T	c.(2587-2589)Cag>Tag	p.Q863*	NCKAP1L_ENST00000545638.2_Nonsense_Mutation_p.Q813*	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	863					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.Q863*(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGTGACCTCTCAGATTGTGGA	0.512000													15	177					0	0	0.004990	0	0
GALT	2592	broad.mit.edu	37	9	34647828	34647828	+	Splice_Site	SNP	G	G	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:34647828G>C	ENST00000378842.3	+	5	419		c.e5-1		GALT_ENST00000450095.2_Splice_Site|GALT_ENST00000556278.1_Intron	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase						galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TCACCACCCAGTAAGGTCATG	0.567000									Galactosemia				4	58					0	0	0.001168	0	0
VEGFC	7424	broad.mit.edu	37	4	177608423	177608423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:177608423G>A	ENST00000280193.2	-	6	1478	c.1063C>T	c.(1063-1065)Cct>Tct	p.P355S	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	355	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CATTTTCCAGGATTTAGGGGT	0.438000													11	124					0	0	0.000978	0	0
SNCAIP	9627	broad.mit.edu	37	5	121739511	121739511	+	Missense_Mutation	SNP	G	G	A	rs149915358	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:121739511G>A	ENST00000379538.3	+	3	287	c.35G>A	c.(34-36)cGa>cAa	p.R12Q	SNCAIP_ENST00000261367.7_Silent_p.T74T|SNCAIP_ENST00000504884.2_Silent_p.T27T|SNCAIP_ENST00000379533.2_Silent_p.T74T|SNCAIP_ENST00000261368.8_Silent_p.T27T|SNCAIP_ENST00000379536.2_Silent_p.T27T|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R18Q|SNCAIP_ENST00000503116.2_Silent_p.T74T	NM_001242935.1	NP_001229864.1	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	0					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CACTCAAGACGATCCCAGAAC	0.453000													26	68					0	0	0.006320	0	0
OSMR	9180	broad.mit.edu	37	5	38884075	38884075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:38884075G>A	ENST00000274276.3	+	5	967	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	OSMR_ENST00000502536.1_Missense_Mutation_p.E189K	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	189					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GATTCATGGAGAACAACTTGA	0.368000													6	67					0	0	0.001984	0	0
GALNTL6	442117	broad.mit.edu	37	4	173730544	173730544	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:173730544G>A	ENST00000506823.1	+	6	1243	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	GALNTL6_ENST00000508122.1_Missense_Mutation_p.A179T	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	196	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AGAATACATGGCCCGATTTTC	0.453000													16	46					0	0	0.007413	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104984617	104984617	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:104984617G>A	ENST00000372582.1	+	8	1737	c.981G>A	c.(979-981)gcG>gcA	p.A327A	IL1RAPL2_ENST00000344799.4_Silent_p.A327A	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	327	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGACCTGGCGAATTATACCT	0.388000													13	25					0	0	0.003163	0	0
MYCBP2	23077	broad.mit.edu	37	13	77673139	77673139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:77673139C>T	ENST00000407578.2	-	56	8416	c.8150G>A	c.(8149-8151)gGa>gAa	p.G2717E	MYCBP2_ENST00000544440.2_Missense_Mutation_p.G2679E|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G2679E|MYCBP2_ENST00000360084.5_Missense_Mutation_p.G202E	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2679	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGAGATGTTTCCTCGATCACC	0.368000													11	90					0	0	0.000978	0	0
BICC1	80114	broad.mit.edu	37	10	60380643	60380643	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:60380643G>A	ENST00000373886.3	+	2	223	c.219G>A	c.(217-219)ggG>ggA	p.G73G	BICC1_ENST00000476684.1_3'UTR	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	73					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GCAGAAGTGGGGAAGACTTTT	0.363000													4	45					0	0	0.000602	0	0
TDRKH	11022	broad.mit.edu	37	1	151748309	151748309	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:151748309C>T	ENST00000368822.1	-	9	1902	c.1269G>A	c.(1267-1269)cgG>cgA	p.R423R	TDRKH_ENST00000368823.1_Silent_p.R419R|TDRKH_ENST00000368827.6_Silent_p.R423R|TDRKH_ENST00000368824.3_Silent_p.R423R|TDRKH_ENST00000458431.2_Silent_p.R423R|TDRKH_ENST00000368825.3_Silent_p.R378R|TDRKH_ENST00000440583.2_Silent_p.R199R			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	423							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGGAGCAATCCGTGCCAGAC	0.408000													37	92					0	0	0.002222	0	0
SECTM1	6398	broad.mit.edu	37	17	80280073	80280073	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:80280073G>A	ENST00000269389.3	-	5	1061	c.711C>T	c.(709-711)tcC>tcT	p.S237S	SECTM1_ENST00000580437.1_3'UTR	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	237					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			AGGGTTGGGGGGACAGCAGCT	0.652000													8	81					0	0	0.006214	0	0
EHD3	30845	broad.mit.edu	37	2	31467274	31467274	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:31467274C>T	ENST00000322054.5	+	2	647	c.362C>T	c.(361-363)cCc>cTc	p.P121L	EHD3_ENST00000541626.1_Missense_Mutation_p.P121L	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	121					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CCCAAGAAACCCTTCAGGAAA	0.547000													6	32					0	0	0.001984	0	0
SLC5A6	8884	broad.mit.edu	37	2	27427456	27427456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:27427456G>A	ENST00000310574.3	-	9	1351	c.878C>T	c.(877-879)tCc>tTc	p.S293F	SLC5A6_ENST00000408041.1_Missense_Mutation_p.S293F	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	293					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	TGCATAACAGGAGCTGCAAAA	0.572000													5	36					0	0	0.000602	0	0
PLAA	9373	broad.mit.edu	37	9	26910388	26910388	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:26910388G>A	ENST00000397292.3	-	12	2022	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	PLAA_ENST00000520884.1_Silent_p.F535F	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	535	PUL.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		CTTTTTTAGGGAAATAAATAT	0.318000													5	42					0	0	0.004482	0	0
COL9A1	1297	broad.mit.edu	37	6	70926710	70926710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:70926710G>A	ENST00000357250.6	-	38	2814	c.2656C>T	c.(2656-2658)Cct>Tct	p.P886S	COL9A1_ENST00000320755.7_Missense_Mutation_p.P643S|COL9A1_ENST00000370499.4_Missense_Mutation_p.P643S|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	886	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGCACTCCAGGAATTCCTGCC	0.622000													8	27					0	0	0.004482	0	0
IGSF9	57549	broad.mit.edu	37	1	159901633	159901633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:159901633C>T	ENST00000368094.1	-	11	1528	c.1331G>A	c.(1330-1332)gGg>gAg	p.G444E	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.G428E	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	444	Ig-like 5.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGAGGGTCCCCTTGGGCGGA	0.607000													6	28					0	0	0.001168	0	0
DNAH5	1767	broad.mit.edu	37	5	13776782	13776782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:13776782C>T	ENST00000265104.4	-	55	9243	c.9139G>A	c.(9139-9141)Gaa>Aaa	p.E3047K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3047	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTATTAATTTCATCAATTTCA	0.408000									Kartagener syndrome				13	43					0	0	0.001855	0	0
NLRP3	114548	broad.mit.edu	37	1	247587588	247587588	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:247587588C>T	ENST00000366497.2	+	4	1623	c.843C>T	c.(841-843)ccC>ccT	p.P281P	NLRP3_ENST00000348069.2_Silent_p.P281P|NLRP3_ENST00000391828.3_Silent_p.P281P|NLRP3_ENST00000366496.2_Silent_p.P281P|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.P281P|NLRP3_ENST00000336119.3_Silent_p.P281P	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	281	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCTGCTGCCCCGACCCAAACC	0.537000													13	38					0	0	0.001368	0	0
LRFN3	79414	broad.mit.edu	37	19	36430513	36430513	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:36430513C>T	ENST00000588831.1	+	3	1240	c.186C>T	c.(184-186)gcC>gcT	p.A62A	LRFN3_ENST00000246529.3_Silent_p.A62A			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	62					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCGGGCAGCCGAGCTGCGGC	0.701000													3	13					0	0	0.004672	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914781	94914781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:94914781G>A	ENST00000334708.3	-	2	395	c.331C>T	c.(331-333)Cct>Tct	p.P111S	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	111					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TCGGCTTCAGGGGTTTCTGTG	0.587000													15	89					0	0	0.003163	0	0
CD86	942	broad.mit.edu	37	3	121825277	121825277	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:121825277G>A	ENST00000330540.2	+	4	749	c.633G>A	c.(631-633)acG>acA	p.T211T	CD86_ENST00000264468.5_Intron|CD86_ENST00000493101.1_Silent_p.T99T|CD86_ENST00000393627.2_Silent_p.T205T|CD86_ENST00000469710.1_Silent_p.T129T	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	211	Ig-like C2-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	p.T211T(2)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CTGATGTTACGAGCAATATGA	0.393000													12	106					0	0	0.001855	0	0
C10orf137	26098	broad.mit.edu	37	10	127426936	127426936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:127426936C>T	ENST00000337623.3	+	14	1906	c.1801C>T	c.(1801-1803)Ccg>Tcg	p.P601S	C10orf137_ENST00000356792.4_Missense_Mutation_p.P635S	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CACTCCAATCCCGTTAAAATA	0.433000													8	55					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179604990	179604990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179604990C>T	ENST00000589042.1	-	48	13194	c.12970G>A	c.(12970-12972)Gaa>Aaa	p.E4324K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3961K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4153K|TTN_ENST00000359218.5_Missense_Mutation_p.E4086K|TTN_ENST00000591111.1_Missense_Mutation_p.E4007K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4007	Ig-like 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTTGCCTTCCTCAATTCTG	0.443000													7	70					0	0	0.003080	0	0
OR9A4	130075	broad.mit.edu	37	7	141619611	141619611	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:141619611C>T	ENST00000548136.1	+	1	995	c.936C>T	c.(934-936)ttC>ttT	p.F312F	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GTCAACTATTCAGGAATTAGC	0.418000													21	51					0	0	0.003330	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610589	47610589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:47610589G>A	ENST00000371891.3	+	9	1200	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.G292E|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.G390E	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	390						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCAGGCATTGGAAGAGAGCTC	0.572000													9	44					0	0	0.006214	0	0
GATA2	2624	broad.mit.edu	37	3	128204917	128204917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:128204917G>A	ENST00000341105.2	-	3	855	c.524C>T	c.(523-525)cCc>cTc	p.P175L	GATA2_ENST00000487848.1_Missense_Mutation_p.P175L|GATA2_ENST00000430265.2_Missense_Mutation_p.P175L	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	175					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGGTGGCGTGGGTGGGAAGCC	0.682000			Mis		AML(CML blast transformation)								4	29					0	0	0.000248	0	0
ZNF394	84124	broad.mit.edu	37	7	99097667	99097667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:99097667C>T	ENST00000337673.6	-	1	253	c.50G>A	c.(49-51)gGa>gAa	p.G17E	ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.G17E|ZNF394_ENST00000394177.3_Intron|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	17					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CACCCAGGGTCCCAACTCGGC	0.607000													13	57					0	0	0.004007	0	0
USH2A	7399	broad.mit.edu	37	1	216073511	216073511	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:216073511G>A	ENST00000366943.2	-	40	7886	c.7500C>T	c.(7498-7500)ctC>ctT	p.L2500L	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Silent_p.L2500L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2500	Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTACGGTTGGAGATCACTCA	0.398000										HNSCC(13;0.011)			13	29					0	0	0.001368	0	0
CNGB1	1258	broad.mit.edu	37	16	58001095	58001095	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:58001095C>T	ENST00000564448.1	-	2	156	c.96G>A	c.(94-96)gaG>gaA	p.E32E	CNGB1_ENST00000251102.8_Silent_p.E32E|CNGB1_ENST00000311183.4_Silent_p.E32E			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	32	Glu-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCGCCTCCATCTCTGGCTCTG	0.637000													4	32					0	0	0.001168	0	0
TRANK1	9881	broad.mit.edu	37	3	36876394	36876394	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:36876394C>G	ENST00000429976.2	-	20	5637	c.5390G>C	c.(5389-5391)aGa>aCa	p.R1797T	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1247T|TRANK1_ENST00000301807.6_Missense_Mutation_p.R1247T			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1797					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGCAGCATCTCTTATCTAGGA	0.348000													4	16					0	0	0.000248	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64594815	64594815	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:64594815G>A	ENST00000342711.5	-	33	4205	c.4206C>T	c.(4204-4206)ttC>ttT	p.F1402F		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1402					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TCTTGGTGCGGAACAGCTGGC	0.652000													5	70					0	0	0.001168	0	0
SLC22A16	85413	broad.mit.edu	37	6	110763633	110763633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:110763633G>A	ENST00000368919.3	-	4	1063	c.997C>T	c.(997-999)Cct>Tct	p.P333S	SLC22A16_ENST00000330550.4_Missense_Mutation_p.P299S|SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.P333S	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	333					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.P333S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TTACTAACAGGACCTTGTAGG	0.413000													6	59					0	0	0.001984	0	0
CARD11	84433	broad.mit.edu	37	7	2985562	2985562	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:2985562C>T	ENST00000396946.4	-	4	652	c.249G>A	c.(247-249)aaG>aaA	p.K83K	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	83	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCCTTTGCCCCTTGGTATGTA	0.488000			Mis		DLBCL								17	172					0	0	0.006122	0	0
FAT4	79633	broad.mit.edu	37	4	126373926	126373926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:126373926C>T	ENST00000394329.3	+	9	11768	c.11755C>T	c.(11755-11757)Cca>Tca	p.P3919S	FAT4_ENST00000335110.5_Missense_Mutation_p.P2217S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3919	EGF-like 3; calcium-binding (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGAATTTTCCAGGAAGCTT	0.448000													9	58					0	0	0.000978	0	0
CCDC81	60494	broad.mit.edu	37	11	86098632	86098632	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:86098632C>T	ENST00000445632.2	+	3	488	c.216C>T	c.(214-216)atC>atT	p.I72I	CCDC81_ENST00000278487.3_5'UTR|CCDC81_ENST00000354755.1_Silent_p.I72I	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	72										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				ACAAATTTATCTTAATCCAGA	0.363000													20	88					0	0	0.008871	0	0
ABCA2	20	broad.mit.edu	37	9	139913674	139913674	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:139913674G>A	ENST00000265662.5	-	11	1657	c.1510C>T	c.(1510-1512)Ctg>Ttg	p.L504L	ABCA2_ENST00000371605.3_Silent_p.L503L|ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Silent_p.L504L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	503					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCCTGCTCCAGGAAGCTGCGG	0.652000													4	33					0	0	0.000248	0	0
MYOM3	127294	broad.mit.edu	37	1	24392449	24392449	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:24392449G>A	ENST00000330966.7	-	29	3637	c.3475C>T	c.(3475-3477)Cag>Tag	p.Q1159*	MYOM3_ENST00000329601.7_Nonsense_Mutation_p.Q1158*|MYOM3_ENST00000374434.3_Nonsense_Mutation_p.Q1156*|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Nonsense_Mutation_p.Q49*			Q5VTT5	MYOM3_HUMAN	myomesin 3	1156	Ig-like C2-type 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCTGCCCTCTGGAAGAACCAC	0.517000													19	98					0	0	0.002299	0	0
SSH2	85464	broad.mit.edu	37	17	27958624	27958624	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:27958624G>A	ENST00000269033.3	-	15	3658	c.3507C>T	c.(3505-3507)tcC>tcT	p.S1169S	SSH2_ENST00000540801.1_Silent_p.S1196S|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1169					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTGCCACTGGAGAGAGGGC	0.507000													9	47					0	0	0.006214	0	0
PGAM5	192111	broad.mit.edu	37	12	133294054	133294054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:133294054C>T	ENST00000498926.2	+	3	458	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	PGAM5_ENST00000543955.1_5'UTR|PGAM5_ENST00000317555.2_Missense_Mutation_p.R134C|PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000454808.2_5'UTR	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	134						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		CACTGGGCTCCGCCTGGCAAG	0.597000													9	25					0	0	0.008291	0	0
ZCCHC24	219654	broad.mit.edu	37	10	81192458	81192458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:81192458G>A	ENST00000372333.3	-	2	174	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	ZCCHC24_ENST00000372336.3_Silent_p.I101I			Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	21							nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						GGCCATCGGCGATGTTGTTGA	0.617000													4	23					0	0	0.000248	0	0
IFNA8	3445	broad.mit.edu	37	9	21409494	21409494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:21409494G>A	ENST00000380205.1	+	1	349	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	107					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		CCTTCTAGATGAATTCTACAT	0.507000													9	37					0	0	0.004482	0	0
TMEM178A	130733	broad.mit.edu	37	2	39944332	39944332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:39944332C>T	ENST00000281961.2	+	4	891	c.835C>T	c.(835-837)Ccg>Tcg	p.P279S	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2			transmembrane protein 178A																		CATCGCTTATCCGTTTATTAG	0.537000													10	66					0	0	0.006214	0	0
GPR112	139378	broad.mit.edu	37	X	135427103	135427103	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:135427103C>G	ENST00000394143.1	+	6	1529	c.1238C>G	c.(1237-1239)tCt>tGt	p.S413C	GPR112_ENST00000412101.1_Missense_Mutation_p.S208C|GPR112_ENST00000287534.4_Missense_Mutation_p.S350C|GPR112_ENST00000394141.1_Missense_Mutation_p.S208C|GPR112_ENST00000370652.1_Missense_Mutation_p.S413C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	413					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACATCTATGTCTACAACACCT	0.408000													7	41					0	0	0.001984	0	0
VIL1	7429	broad.mit.edu	37	2	219292991	219292991	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:219292991C>T	ENST00000248444.5	+	6	586	c.498C>T	c.(496-498)ttC>ttT	p.F166F	VIL1_ENST00000440053.1_Silent_p.F166F|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	166	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.F166F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGATGTTTTCCTCCTGGACC	0.547000													7	48					0	0	0.001984	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492607	74492607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:74492607C>T	ENST00000354431.4	-	8	1956	c.1765G>A	c.(1765-1767)Gat>Aat	p.D589N	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.D589N	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	589										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GCAATCATATCCATAACAAAT	0.294000													4	28					0	0	0.001168	0	0
F5	2153	broad.mit.edu	37	1	169510946	169510946	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:169510946G>A	ENST00000367796.3	-	13	3598	c.3397C>T	c.(3397-3399)Caa>Taa	p.Q1133*	F5_ENST00000367797.3_Nonsense_Mutation_p.Q1128*			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1128	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.Q1128K(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGGAATGTTTGATAGTGTTCC	0.483000													11	123					0	0	0.001368	0	0
PCNX	22990	broad.mit.edu	37	14	71428979	71428979	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:71428979C>T	ENST00000304743.2	+	3	845	c.399C>T	c.(397-399)atC>atT	p.I133I	PCNX_ENST00000238570.5_Silent_p.I133I|PCNX_ENST00000439984.3_Silent_p.I133I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	133						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTGAGTTCATCCGAGAGGCCA	0.443000													23	105					0	0	0.003954	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433423	140433423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140433423G>A	ENST00000306549.3	+	1	2445	c.2368G>A	c.(2368-2370)Gag>Aag	p.E790K		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		790					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATAAAAATGGAGGCTGGCTC	0.453000													25	69					0	0	0.003954	0	0
MIR300	100126297	broad.mit.edu	37	14	101507748	101507748	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:101507748G>A	ENST00000401138.1	+	0	49					NR_030582.1																						TACTTGCAATGATTATACAAG	0.493000													15	52					0	0	0.004007	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92669355	92669355	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:92669355C>T	ENST00000318445.6	+	6	1453	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L	SLCO3A1_ENST00000424469.2_Silent_p.L413L|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	413					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TGAAGAAGCTCAGCCTGTCTG	0.587000													9	62					0	0	0.004482	0	0
CDH26	60437	broad.mit.edu	37	20	58567522	58567522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:58567522C>T	ENST00000348616.4	+	10	1673	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F	CDH26_ENST00000244047.5_Missense_Mutation_p.S458F	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	458	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GACCGAGAATCCCCTCATGTA	0.413000													6	25					0	0	0.001984	0	0
DNAH3	55567	broad.mit.edu	37	16	21139089	21139089	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:21139089C>T	ENST00000261383.3	-	8	1126	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	DNAH3_ENST00000415178.1_Missense_Mutation_p.G376E|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	376	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGCAATTTTCCCGCTAGTAT	0.458000													10	107					0	0	0.000978	0	0
RIMS2	9699	broad.mit.edu	37	8	104927725	104927725	+	Silent	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:104927725T>G	ENST00000507740.1	+	5	1475	c.1239T>G	c.(1237-1239)gtT>gtG	p.V413V	RIMS2_ENST00000262231.10_Silent_p.V460V|RIMS2_ENST00000406091.3_Silent_p.V605V|RIMS2_ENST00000436393.2_Silent_p.V383V	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	683					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTAAACAGGTTGTAGGAGGAA	0.348000										HNSCC(12;0.0054)			3	21					0	0	0.004672	0	0
IBTK	25998	broad.mit.edu	37	6	82891638	82891638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:82891638G>A	ENST00000306270.7	-	26	4232	c.3683C>T	c.(3682-3684)tCt>tTt	p.S1228F	IBTK_ENST00000503631.1_Missense_Mutation_p.S1027F|IBTK_ENST00000510291.1_Missense_Mutation_p.S1213F	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1228					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TCCTTTAAAAGAAACTTTTTT	0.323000													7	16					0	0	0.001984	0	0
PDPR	55066	broad.mit.edu	37	16	70176283	70176283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:70176283C>T	ENST00000288050.4	+	12	2419	c.1462C>T	c.(1462-1464)Ccc>Tcc	p.P488S	PDPR_ENST00000398122.3_Missense_Mutation_p.P388S|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000568530.1_Missense_Mutation_p.P488S	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	488					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTTTGTTCCCCCCGACAAGGG	0.428000													4	66					0	0	0.000602	0	0
MAD1L1	8379	broad.mit.edu	37	7	2108921	2108921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:2108921C>T	ENST00000406869.1	-	12	1683	c.1126G>A	c.(1126-1128)Gtc>Atc	p.V376I	MAD1L1_ENST00000265854.7_Missense_Mutation_p.V376I|MAD1L1_ENST00000399654.2_Missense_Mutation_p.V376I|MAD1L1_ENST00000402746.1_Missense_Mutation_p.V284I			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	376					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TGGCCGCTGACCTGCCGGAGC	0.652000													4	23					0	0	0.000248	0	0
HTN1	3346	broad.mit.edu	37	4	70920059	70920059	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:70920059G>A	ENST00000511674.1	+	3	143	c.72_splice	c.e3+1	p.K24_splice	HTN1_ENST00000246896.3_Splice_Site_p.K24_splice			P15515	HIS1_HUMAN	histatin 1	24					biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6						CACATGAAAAGGTAAGACATT	0.239000													6	11					0	0	0.003080	0	0
MYO15A	51168	broad.mit.edu	37	17	18052889	18052889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:18052889G>A	ENST00000205890.5	+	35	7545	c.7207G>A	c.(7207-7209)Gat>Aat	p.D2403N		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2403	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTCCTACGGGGATGCGGTAGG	0.577000													6	35					0	0	0.003080	0	0
CLEC14A	161198	broad.mit.edu	37	14	38723952	38723952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:38723952G>A	ENST00000342213.2	-	1	1622	c.1276C>T	c.(1276-1278)Cac>Tac	p.H426Y		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	426						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGGCTTTCGTGAAAGCAGAGC	0.562000													5	33					0	0	0.001168	0	0
NLRP8	126205	broad.mit.edu	37	19	56487502	56487502	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:56487502G>A	ENST00000291971.3	+	8	2780	c.2709G>A	c.(2707-2709)ctG>ctA	p.L903L	NLRP8_ENST00000590542.1_Silent_p.L884L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	903						cytoplasm	ATP binding	p.L903L(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTTGCAGACTGAGAAAGTGTG	0.358000													22	32					0	0	0.003330	0	0
NUTM1	256646	broad.mit.edu	37	15	34640322	34640322	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:34640322C>T	ENST00000537011.1	+	3	635	c.253C>T	c.(253-255)Cca>Tca	p.P85S	NUTM1_ENST00000333756.4_Missense_Mutation_p.P57S|NUTM1_ENST00000438749.3_Missense_Mutation_p.P75S					NUT midline carcinoma, family member 1																		AGTATTCTCTCCAGACAACCC	0.597000													20	74					0	0	0.002780	0	0
CSMD2	114784	broad.mit.edu	37	1	34035053	34035053	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:34035053G>A	ENST00000373381.4	-	52	8228	c.8052C>T	c.(8050-8052)tcC>tcT	p.S2684S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2686	Sushi 17.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGTGTATCCGGAATTGCAGG	0.582000													7	28					0	0	0.001984	0	0
CPXM2	119587	broad.mit.edu	37	10	125539706	125539706	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:125539706G>A	ENST00000241305.3	-	7	1109	c.955C>T	c.(955-957)Cac>Tac	p.H319Y	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	319					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TTATAATTGTGGTGCTTAAAA	0.403000													7	123					0	0	0.004482	0	0
KL	9365	broad.mit.edu	37	13	33635004	33635004	+	Silent	SNP	C	C	T	rs141133607		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:33635004C>T	ENST00000380099.3	+	4	1796	c.1788C>T	c.(1786-1788)tcC>tcT	p.S596S	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	596	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTCGCTTCTCCCTGGACTGGG	0.532000													11	63					0	0	0.000978	0	0
TAF1L	138474	broad.mit.edu	37	9	32634114	32634114	+	Silent	SNP	G	G	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:32634114G>T	ENST00000242310.4	-	1	1553	c.1464C>A	c.(1462-1464)ccC>ccA	p.P488P	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	488					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CATTGTCAATGGGAAAAATGG	0.473000													11	85					0.000673444	0.00075997	0.008291	1	0
ANKRD11	29123	broad.mit.edu	37	16	89351875	89351875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:89351875G>A	ENST00000301030.4	-	9	1535	c.1075C>T	c.(1075-1077)Cct>Tct	p.P359S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P359S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	359						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCCACCGGAGGAACCCTGTCC	0.488000													11	96					0	0	0.000978	0	0
SAFB	6294	broad.mit.edu	37	19	5668187	5668187	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:5668187C>T	ENST00000292123.5	+	21	2740	c.2633C>T	c.(2632-2634)gCc>gTc	p.A878V	SAFB_ENST00000433404.1_Missense_Mutation_p.A710V|SAFB_ENST00000538656.1_Missense_Mutation_p.A722V|SAFB_ENST00000588852.1_Missense_Mutation_p.A880V|SAFB_ENST00000454510.1_Missense_Mutation_p.A811V|SAFB_ENST00000592224.1_Missense_Mutation_p.A879V	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	878	Gly-rich.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GGCAGCTTTGCCCCAGGCGGG	0.677000													6	84					0	0	0.001168	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895295	42895295	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:42895295G>A	ENST00000399770.2	+	1	12	c.12G>A	c.(10-12)agG>agA	p.R4R		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	4					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TGCTTAAAAGGGAGATGAAGC	0.502000													8	49					0	0	0.003080	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8665875	8665875	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:8665875C>T	ENST00000270328.4	-	5	1013	c.747G>A	c.(745-747)aaG>aaA	p.K249K	ADAMTS10_ENST00000597188.1_Silent_p.K249K|ADAMTS10_ENST00000596709.1_5'UTR			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	249	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCACCATCATCTTGTCAGCCA	0.627000													11	74					0	0	0.001855	0	0
CXCR2	3579	broad.mit.edu	37	2	219000408	219000408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:219000408C>T	ENST00000318507.2	+	3	1311	c.884C>T	c.(883-885)gCt>gTt	p.A295V		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	295					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						ATCGACCGGGCTCTGGATGCC	0.587000													9	67					0	0	0.006214	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110447558	110447558	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:110447558C>T	ENST00000378402.5	+	29	3584	c.3480C>T	c.(3478-3480)atC>atT	p.I1160I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1160	IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTCACATATCTGGCCTGATT	0.433000										HNSCC(38;0.096)			18	170					0	0	0.002780	0	0
CELSR1	9620	broad.mit.edu	37	22	46765661	46765661	+	Silent	SNP	G	G	A	rs142317772		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:46765661G>A	ENST00000262738.3	-	26	7799	c.7800C>T	c.(7798-7800)ccC>ccT	p.P2600P		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2600					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCAGAAGTCGGGGTTCCCGT	0.647000													5	56					0	0	0.000602	0	0
WDFY3	23001	broad.mit.edu	37	4	85623601	85623601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:85623601G>A	ENST00000322366.6	-	55	8857	c.8450C>T	c.(8449-8451)tCa>tTa	p.S2817L	WDFY3_ENST00000295888.4_Missense_Mutation_p.S2834L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2834	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTTTGACGCTGAATACCAGGC	0.458000													8	32					0	0	0.004482	0	0
RRP9	9136	broad.mit.edu	37	3	51967753	51967753	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:51967753G>A	ENST00000232888.6	-	14	1378	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	435					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CAGCCACCAGGAAGTCCCCAG	0.587000													24	100					0	0	0.005443	0	0
KIF21A	55605	broad.mit.edu	37	12	39763563	39763563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:39763563G>A	ENST00000395670.3	-	3	837	c.418C>T	c.(418-420)Cca>Tca	p.P140S	KIF21A_ENST00000544797.2_Missense_Mutation_p.P140S|KIF21A_ENST00000361961.3_Missense_Mutation_p.P140S|KIF21A_ENST00000541463.2_Missense_Mutation_p.P140S|KIF21A_ENST00000361418.5_Missense_Mutation_p.P140S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	140	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTAAAATCTGGAGCAGGAAGC	0.299000													4	48					0	0	0.001168	0	0
MTMR12	54545	broad.mit.edu	37	5	32248166	32248166	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:32248166G>A	ENST00000382142.3	-	10	1133	c.963C>T	c.(961-963)ttC>ttT	p.F321F	MTMR12_ENST00000264934.5_Silent_p.F321F|MTMR12_ENST00000280285.5_Silent_p.F321F	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	321	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCAGGGACAGGAAGTTGCTTG	0.383000													8	64					0	0	0.003080	0	0
CDAN1	146059	broad.mit.edu	37	15	43019896	43019896	+	Missense_Mutation	SNP	G	G	A	rs142276684		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:43019896G>A	ENST00000356231.3	-	23	3042	c.3019C>T	c.(3019-3021)Cgg>Tgg	p.R1007W		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	1007						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CGCTCCCCCCGGGCAGCAGGT	0.627000													6	23					0	0	0.001168	0	0
KDM1A	23028	broad.mit.edu	37	1	23398665	23398665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:23398665C>T	ENST00000400181.4	+	14	1701	c.1597C>T	c.(1597-1599)Cag>Tag	p.Q533*	KDM1A_ENST00000356634.3_Nonsense_Mutation_p.Q509*|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Nonsense_Mutation_p.Q533*	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	509	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGAAAAACTTCAGGAGTTGGA	0.388000													4	15					0	0	0.000248	0	0
LNX1	84708	broad.mit.edu	37	4	54342990	54342990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:54342990C>T	ENST00000306888.2	-	8	1785	c.1534G>A	c.(1534-1536)Gac>Aac	p.D512N	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Missense_Mutation_p.D608N	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	608	PDZ 3.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGGTTGGAGTCCAGGGCTGCT	0.522000													14	81					0	0	0.004990	0	0
CLRN1	7401	broad.mit.edu	37	3	150690300	150690300	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:150690300A>T	ENST00000327047.1	-	1	486	c.196T>A	c.(196-198)Ttc>Atc	p.F66I	CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000328863.4_Missense_Mutation_p.F66I|RP11-166N6.2_ENST00000469268.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	66					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCTCCGTGGAAAAGCCCGTAC	0.507000													6	70					0	0	0.001168	0	0
HECTD4	283450	broad.mit.edu	37	12	112686220	112686220	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:112686220G>A	ENST00000550722.1	-	26	4004	c.3609C>T	c.(3607-3609)ttC>ttT	p.F1203F	HECTD4_ENST00000430131.2_Silent_p.F927F|HECTD4_ENST00000377560.5_Silent_p.F1177F	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTTGATATTGGAAATTTATTA	0.378000													7	16					0	0	0.001984	0	0
NDN	4692	broad.mit.edu	37	15	23931706	23931706	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:23931706C>G	ENST00000331837.4	-	1	744	c.659G>C	c.(658-660)cGg>cCg	p.R220P		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	220	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CTTCCAGGGCCGCAGCCCCAG	0.607000									Prader-Willi syndrome				15	20					0	0	0.004990	0	0
FLRT3	23767	broad.mit.edu	37	20	14306803	14306803	+	Silent	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:14306803T>C	ENST00000378053.3	-	2	1606	c.1350A>G	c.(1348-1350)ggA>ggG	p.G450G	FLRT3_ENST00000341420.4_Silent_p.G450G|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	450	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CTGTTATAGATCCAAATGCCG	0.463000													5	50					0	0	0.000602	0	0
PTPN6	5777	broad.mit.edu	37	12	7067172	7067172	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:7067172C>T	ENST00000456013.1	+	11	1539	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	PTPN6_ENST00000318974.9_Silent_p.L433L|PTPN6_ENST00000447931.2_Silent_p.L394L|PTPN6_ENST00000399448.1_Silent_p.L435L	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	433	Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CCTCAGCTTCCTGGACCAGAT	0.587000													4	40					0	0	0.000602	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554647	140554647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140554647C>T	ENST00000231137.3	+	1	2405	c.2231C>T	c.(2230-2232)tCc>tTc	p.S744F		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		744					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGACCCTATCCCAGAGCTAC	0.607000													10	129					0	0	0.000978	0	0
BZW2	28969	broad.mit.edu	37	7	16729434	16729434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:16729434C>T	ENST00000433922.2	+	7	732	c.554C>T	c.(553-555)tCa>tTa	p.S185L	BZW2_ENST00000405202.1_Missense_Mutation_p.S109L|BZW2_ENST00000258761.3_Missense_Mutation_p.S185L|BZW2_ENST00000452975.2_Missense_Mutation_p.H140Y|BZW2_ENST00000407633.1_5'UTR	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	185					cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		ATTGCGGCCTCATTTGCTGTC	0.418000													4	27					0	0	0.000248	0	0
MROH2B	133558	broad.mit.edu	37	5	41058246	41058246	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:41058246G>A	ENST00000399564.4	-	7	1125	c.675C>T	c.(673-675)gaC>gaT	p.D225D	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		ATCCACGGAAGTCTTCCCGAT	0.512000													6	27					0	0	0.001984	0	0
WNT16	51384	broad.mit.edu	37	7	120965496	120965496	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:120965496G>A	ENST00000361301.2	+	1	76	c.27G>A	c.(25-27)gaG>gaA	p.E9E		NM_016087.2	NP_057171.2	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	0					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GCCTCAGGGAGACCCTCTTCA	0.483000													17	74					0	0	0.008871	0	0
ZNF501	115560	broad.mit.edu	37	3	44776524	44776524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:44776524C>T	ENST00000396048.2	+	3	1048	c.611C>T	c.(610-612)tCc>tTc	p.S204F		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		CAGAACTCTTCCCTTGTTGAA	0.418000													4	26					0	0	0.000248	0	0
DNAH3	55567	broad.mit.edu	37	16	20975047	20975047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:20975047C>T	ENST00000261383.3	-	53	10158	c.10159G>A	c.(10159-10161)Gaa>Aaa	p.E3387K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3387					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E3387*(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCGTAATTTCCTTCTTCTGT	0.517000													4	39					0	0	0.000602	0	0
PTGFR	5737	broad.mit.edu	37	1	78958515	78958515	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:78958515C>T	ENST00000370756.3	+	2	324	c.87C>T	c.(85-87)tcC>tcT	p.S29S	PTGFR_ENST00000370758.1_Silent_p.S29S|PTGFR_ENST00000370757.3_Silent_p.S29S	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	29					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	ACCGGCTTTCCGTATTTTTTT	0.438000													6	73					0	0	0.001984	0	0
NF1	4763	broad.mit.edu	37	17	29562641	29562641	+	Nonsense_Mutation	SNP	C	C	T	rs137854562		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:29562641C>T	ENST00000358273.4	+	28	4104	c.3721C>T	c.(3721-3723)Cga>Tga	p.R1241*	NF1_ENST00000356175.3_Nonsense_Mutation_p.R1241*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1241	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.R1241*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGAACTAGCTCGAGTTCTGGT	0.388000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			26	131					0	0	0.006320	0	0
C1orf168	199920	broad.mit.edu	37	1	57202773	57202773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:57202773C>T	ENST00000343433.6	-	15	1860	c.1780G>A	c.(1780-1782)Gaa>Aaa	p.E594K	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	594										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GACTCTTTTTCACTCAGGTCT	0.328000													4	32					0	0	0.001168	0	0
PLXNA4	91584	broad.mit.edu	37	7	131878938	131878938	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:131878938C>T	ENST00000359827.3	-	14	3701	c.2738_splice	c.e14-1	p.Q913_splice	PLXNA4_ENST00000321063.4_Splice_Site_p.Q913_splice			Q9HCM2	PLXA4_HUMAN	plexin A4	913	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACACACGATCCTGCAGGGAG	0.602000													7	74					0	0	0.003080	0	0
OBSCN	84033	broad.mit.edu	37	1	228434376	228434376	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:228434376C>T	ENST00000570156.2	+	14	4255	c.4181C>T	c.(4180-4182)tCg>tTg	p.S1394L	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.S1302L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.S1302L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	376	Ig-like 14.|Poly-Ser.			S -> L (in Ref. 1; CAC85749).	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCTCCAGTTCGAAAGTGCGC	0.647000													27	77					0	0	0.003954	0	0
WAS	7454	broad.mit.edu	37	X	48545242	48545242	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:48545242G>A	ENST00000376701.4	+	7	707	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	211					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				ACGAGTTCACGATACCGTGGG	0.572000			"""Mis, N, F, S"""			lymphoma							6	16					0	0	0.001984	0	0
DGKA	1606	broad.mit.edu	37	12	56346939	56346939	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:56346939C>T	ENST00000331886.5	+	22	2512	c.2058C>T	c.(2056-2058)acC>acT	p.T686T	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Silent_p.T686T|DGKA_ENST00000394147.1_Silent_p.T686T	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	686					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CTGAGATCACCTTCCAGTAAG	0.567000													5	53					0	0	0.000602	0	0
PDZD2	23037	broad.mit.edu	37	5	32087283	32087283	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:32087283G>A	ENST00000438447.1	+	20	4117	c.3729G>A	c.(3727-3729)ggG>ggA	p.G1243G	PDZD2_ENST00000282493.3_Silent_p.G1243G			O15018	PDZD2_HUMAN	PDZ domain containing 2	1243					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGAAGAAGGGGGCCGCTCATC	0.577000													8	119					0	0	0.004482	0	0
MYH6	4624	broad.mit.edu	37	14	23874910	23874910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:23874910C>T	ENST00000405093.3	-	4	341	c.271G>A	c.(271-273)Gcc>Acc	p.A91T	MYH6_ENST00000356287.3_Missense_Mutation_p.A91T	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	91	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GTCAGCATGGCCATGTCCTCA	0.577000													7	53					0	0	0.003080	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808829	18808829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:18808829G>A	ENST00000400664.1	+	1	1406	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	452						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCCTGAAAGAGGCGGCCTA	0.632000													5	81					0	0	0.000602	0	0
POLE	5426	broad.mit.edu	37	12	133233813	133233813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:133233813G>A	ENST00000320574.5	-	29	3534	c.3491C>T	c.(3490-3492)cCc>cTc	p.P1164L	POLE_ENST00000535270.1_Missense_Mutation_p.P1137L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1164					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CAGCCAGTCGGGGTGTTTGAC	0.532000								DNA polymerases (catalytic subunits)					15	58					0	0	0.004007	0	0
ERC2	26059	broad.mit.edu	37	3	55733446	55733446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:55733446C>T	ENST00000288221.6	-	16	3062	c.2807G>A	c.(2806-2808)gGg>gAg	p.G936E		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	936						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTGCGACCTCCCAGGAGATCg	0.488000													13	184					0	0	0.001855	0	0
SLC22A23	63027	broad.mit.edu	37	6	3410537	3410537	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:3410537G>A	ENST00000436008.2	-	3	1260	c.798C>T	c.(796-798)ttC>ttT	p.F266F	SLC22A23_ENST00000380302.4_5'UTR|SLC22A23_ENST00000406686.3_Silent_p.F266F|SLC22A23_ENST00000380298.2_Silent_p.F266F|SLC22A23_ENST00000490273.1_5'UTR			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	266					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				AGATCAGAATGAAGATGATGG	0.468000													5	26					0	0	0.000602	0	0
HNF4G	3174	broad.mit.edu	37	8	76471254	76471254	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:76471254C>T	ENST00000396423.2	+	8	1199	c.1075C>T	c.(1075-1077)Cag>Tag	p.Q359*	HNF4G_ENST00000354370.1_Nonsense_Mutation_p.Q322*	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	322					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CAATCTACTTCAGGAAATGCT	0.348000													14	54					0	0	0.003163	0	0
OR5K2	402135	broad.mit.edu	37	3	98216810	98216810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:98216810G>A	ENST00000427338.1	+	1	363	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	CLDND1_ENST00000502288.1_3'UTR	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTCCCTCTATGAATGTGCAGT	0.463000													8	92					0	0	0.004482	0	0
HOXB8	3218	broad.mit.edu	37	17	46690569	46690569	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:46690569T>G	ENST00000239144.4	-	2	961	c.727A>C	c.(727-729)Aag>Cag	p.K243Q	HOXB8_ENST00000576562.1_Missense_Mutation_p.K242Q|HOXB7_ENST00000567101.1_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	243						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						GAAGCCTACTTCTTGTCGCCC	0.736000													6	70					0	0	0.001168	0	0
RNF213	57674	broad.mit.edu	37	17	78268715	78268715	+	Silent	SNP	C	C	T	rs146798784	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:78268715C>T	ENST00000582970.1	+	9	1811	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F	RNF213_ENST00000456466.1_Silent_p.F556F|RNF213_ENST00000508628.2_Silent_p.F605F|RNF213_ENST00000319921.4_Silent_p.F556F	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	556										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCACCCAGTTCGAGCAGTTTT	0.527000													10	43					0	0	0.000978	0	0
INTS3	65123	broad.mit.edu	37	1	153719460	153719460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:153719460C>T	ENST00000318967.2	+	4	914	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	INTS3_ENST00000456435.1_5'UTR|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000435409.2_Missense_Mutation_p.R116C	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	116					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCTGGTGAGTCGTGATGGCAT	0.488000													10	115					0	0	0.008291	0	0
MYH2	4620	broad.mit.edu	37	17	10432229	10432229	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10432229C>T	ENST00000245503.5	-	27	3906	c.3522G>A	c.(3520-3522)gaG>gaA	p.E1174E	MYH2_ENST00000397183.2_Silent_p.E1174E|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1174					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGAACTCAGCCTCCCGCTTCT	0.607000													12	93					0	0	0.003163	0	0
NR2F1	7025	broad.mit.edu	37	5	92929319	92929319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:92929319C>T	ENST00000327111.3	+	3	2730	c.1043C>T	c.(1042-1044)tCg>tTg	p.S348L	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	348					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.S348L(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CAGGAGAAGTCGCAGTGCGCA	0.647000													9	47					0	0	0.006214	0	0
CYP2E1	1571	broad.mit.edu	37	10	135345656	135345656	+	Silent	SNP	C	C	T	rs139133362	by1000genomes	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:135345656C>T	ENST00000463117.2	+	6	788	c.516C>T	c.(514-516)atC>atT	p.I172I	CYP2E1_ENST00000480558.1_3'UTR|CYP2E1_ENST00000252945.3_Silent_p.I172I|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	172					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CCTTCCTCATCGGCTGCGCGC	0.522000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				18	53					0	0	0.008871	0	0
EXO1	9156	broad.mit.edu	37	1	242016659	242016659	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:242016659G>A	ENST00000366548.3	+	6	874		c.e6-1		EXO1_ENST00000348581.5_Splice_Site|EXO1_ENST00000493702.1_Splice_Site|EXO1_ENST00000518483.1_Splice_Site	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1						meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TTCCCTTGCAGAAGACGACAA	0.388000								Editing and processing nucleases					17	60					0	0	0.001523	0	0
SYNE1	23345	broad.mit.edu	37	6	152793506	152793506	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:152793506C>T	ENST00000367255.5	-	15	1994	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	SYNE1_ENST00000367248.3_Missense_Mutation_p.E455K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E472K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E465K|SYNE1_ENST00000495090.2_Missense_Mutation_p.E32K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E465K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E472K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E465K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E465K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E472K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	465					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGGTAGATTTCATGGAATGCT	0.403000										HNSCC(10;0.0054)			7	68					0	0	0.008291	0	0
CHST4	10164	broad.mit.edu	37	16	71571297	71571297	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:71571297G>A	ENST00000338482.5	+	3	1060	c.717G>A	c.(715-717)gaG>gaA	p.E239E	CHST4_ENST00000572450.1_Silent_p.E239E|RP11-510M2.9_ENST00000572693.1_RNA|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Silent_p.E239E			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	239					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TCAAGAAGGAGGACCAACCCT	0.552000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	22					0	0	0.004672	0	0
HIF1AN	55662	broad.mit.edu	37	10	102304787	102304787	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:102304787C>T	ENST00000299163.5	+	4	757	c.657C>T	c.(655-657)ttC>ttT	p.F219F		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	219	Interaction with HIF1A.|Interaction with VHL.|JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		GCATCTTATTCCCTCCGGATC	0.453000													5	56					0	0	0.000602	0	0
YBX1	4904	broad.mit.edu	37	1	43162382	43162382	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:43162382C>T	ENST00000321358.7	+	5	563	c.424C>T	c.(424-426)Cgt>Tgt	p.R142C	YBX1_ENST00000467957.1_3'UTR	NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	142					CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGCAGCAGACCGTAACCATTA	0.473000													7	75					0	0	0.006214	0	0
LAMB2	3913	broad.mit.edu	37	3	49161226	49161226	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:49161226G>A	ENST00000418109.1	-	25	3896	c.3732C>T	c.(3730-3732)atC>atT	p.I1244I	LAMB2_ENST00000305544.4_Silent_p.I1244I	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1244	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGCACCTACGATGCCCTGCA	0.617000													6	34					0	0	0.001168	0	0
SNHG14	104472715	broad.mit.edu	37	15	25458849	25458849	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:25458849C>T	ENST00000424208.1	+	0	2694				SNORD115-24_ENST00000363528.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						ACTTAAAAATCATGCTCAATA	0.498000													18	110					0	0	0.002299	0	0
COL4A3	1285	broad.mit.edu	37	2	228159250	228159250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:228159250G>A	ENST00000396578.3	+	39	3544	c.3382G>A	c.(3382-3384)Ggc>Agc	p.G1128S	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1128	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGGAATCAAAGGCCTCCTGGG	0.433000													24	95					0	0	0.004656	0	0
OR5D18	219438	broad.mit.edu	37	11	55587575	55587575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:55587575C>T	ENST00000333976.4	+	1	490	c.470C>T	c.(469-471)tCc>tTc	p.S157F		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GTCTCATGTTCCTTGGAACTG	0.468000													26	76					0	0	0.003954	0	0
OR5P2	120065	broad.mit.edu	37	11	7818247	7818247	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:7818247G>A	ENST00000329434.2	-	1	273	c.243C>T	c.(241-243)ttC>ttT	p.F81F	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCTCCACCAGGAAGTTTACAA	0.483000													17	75					0	0	0.008871	0	0
MYH11	4629	broad.mit.edu	37	16	15847301	15847301	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:15847301G>A	ENST00000338282.6	-	15	1920	c.1814C>T	c.(1813-1815)tCc>tTc	p.S605F	MYH11_ENST00000452625.2_Missense_Mutation_p.S612F|MYH11_ENST00000576790.1_Missense_Mutation_p.S605F|MYH11_ENST00000300036.5_Missense_Mutation_p.S605F|MYH11_ENST00000396324.3_Missense_Mutation_p.S612F	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	605	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ATTGAGCAGGGAAGTCACGTT	0.557000			T	CBFB	AML								7	69					0	0	0.003080	0	0
RBP3	5949	broad.mit.edu	37	10	48390628	48390628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:48390628C>T	ENST00000224600.4	-	1	363	c.250G>A	c.(250-252)Gat>Aat	p.D84N		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	84	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.D84N(2)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGCGAGGATCGTTCAGGGAG	0.617000													8	61					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179658217	179658217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179658217C>T	ENST00000589042.1	-	9	1674	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	TTN_ENST00000360870.5_Missense_Mutation_p.D484N|TTN_ENST00000460472.2_Missense_Mutation_p.D484N|TTN_ENST00000342992.6_Missense_Mutation_p.D484N|TTN_ENST00000342175.6_Missense_Mutation_p.D484N|TTN_ENST00000359218.5_Missense_Mutation_p.D484N|TTN_ENST00000591111.1_Missense_Mutation_p.D484N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	484							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGCTTTATCGGCGGCCACT	0.398000													18	40					0	0	0.007413	0	0
YLPM1	56252	broad.mit.edu	37	14	75283748	75283748	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:75283748A>T	ENST00000325680.7	+	14	5924	c.5800A>T	c.(5800-5802)Atc>Ttc	p.I1934F	YLPM1_ENST00000552421.1_Missense_Mutation_p.I1228F|YLPM1_ENST00000238571.3_Missense_Mutation_p.I1699F	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1739					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCTGGATGCCATCAATGACAG	0.408000													6	17					0	0	0.004482	0	0
SCN4A	6329	broad.mit.edu	37	17	62018440	62018440	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:62018440G>A	ENST00000578147.1	-	24	5278	c.5202C>T	c.(5200-5202)atC>atT	p.I1734I	SCN4A_ENST00000435607.1_Silent_p.I1734I			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1734	IQ.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGGCCCTCTGGATCTTGATGG	0.622000													9	65					0	0	0.006214	0	0
JMJD1C	221037	broad.mit.edu	37	10	64967070	64967070	+	Silent	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:64967070T>C	ENST00000399262.2	-	10	4577	c.4359A>G	c.(4357-4359)acA>acG	p.T1453T	JMJD1C_ENST00000399251.1_Silent_p.T1234T|JMJD1C_ENST00000402544.1_Silent_p.T1234T|JMJD1C_ENST00000542921.1_Silent_p.T1271T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1453					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TAACTGGTGCTGTGGTGCTGA	0.413000													23	86					0	0	0.006320	0	0
UGT1A6	54578	broad.mit.edu	37	2	234602351	234602351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:234602351C>T	ENST00000305139.6	+	1	840	c.701C>T	c.(700-702)tCa>tTa	p.S234L	UGT1A6_ENST00000406651.1_5'UTR|UGT1A6_ENST00000480628.1_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		GAACTCGCATCAGCTGTCCTC	0.408000													23	129					0	0	0.002299	0	0
AGL	178	broad.mit.edu	37	1	100346653	100346653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:100346653C>T	ENST00000294724.4	+	15	2399	c.1921C>T	c.(1921-1923)Ctt>Ttt	p.L641F	AGL_ENST00000361915.3_Missense_Mutation_p.L641F|AGL_ENST00000370165.3_Missense_Mutation_p.L641F|AGL_ENST00000370163.3_Missense_Mutation_p.L641F|AGL_ENST00000370161.2_Missense_Mutation_p.L625F|AGL_ENST00000361302.3_Missense_Mutation_p.L625F|AGL_ENST00000361522.4_Missense_Mutation_p.L624F	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	641					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GTATGATGCTCTTCCAAGTAC	0.353000													9	42					0	0	0.000978	0	0
SLC38A4	55089	broad.mit.edu	37	12	47186763	47186763	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:47186763C>T	ENST00000447411.1	-	2	298	c.92G>A	c.(91-93)gGa>gAa	p.G31E	SLC38A4_ENST00000266579.4_Missense_Mutation_p.G31E	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	31					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TTCTGAATTTCCTATCCCGAT	0.428000													23	89					0	0	0.004656	0	0
CNTN6	27255	broad.mit.edu	37	3	1394070	1394070	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:1394070C>T	ENST00000446702.2	+	12	2054	c.1427C>T	c.(1426-1428)tCa>tTa	p.S476L	CNTN6_ENST00000539053.1_Missense_Mutation_p.S404L|CNTN6_ENST00000350110.2_Missense_Mutation_p.S476L			Q9UQ52	CNTN6_HUMAN	contactin 6	476	Ig-like C2-type 5.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GATGCTGGATCATATACATGC	0.358000													9	27					0	0	0.006214	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175879	140175879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140175879G>A	ENST00000526136.1	+	1	1330	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E444K|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E444K	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGTCCATCGAGGTGGCCGA	0.652000													12	49					0	0	0.001368	0	0
INO80	54617	broad.mit.edu	37	15	41275114	41275114	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:41275114C>T	ENST00000361937.3	-	35	4823	c.4399G>A	c.(4399-4401)Gct>Act	p.A1467T	INO80_ENST00000401393.3_Missense_Mutation_p.A1467T			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1467	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCCGCTGCAGCCCCGGCTTTG	0.607000													5	86					0	0	0.000602	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260627	42260627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:42260627C>T	ENST00000199764.6	+	2	402	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	62	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GCCCCAGAATCGTATTGGTTA	0.512000													8	87					0	0	0.003080	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52003401	52003401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:52003401C>T	ENST00000291707.3	-	2	636	c.581G>A	c.(580-582)gGg>gAg	p.G194E	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.G76E	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	194	Ig-like V-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TATATCGGCCCCTTCCTTGAA	0.547000													13	81					0	0	0.002450	0	0
MMP16	4325	broad.mit.edu	37	8	89086955	89086955	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:89086955C>T	ENST00000286614.6	-	7	1381	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	367	Hemopexin-like 1.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GTTTCTCACTCGCCAAAACCA	0.488000													7	93					0	0	0.004482	0	0
GSTA5	221357	broad.mit.edu	37	6	52696655	52696655	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:52696655G>A	ENST00000370989.1	-	7	818	c.660C>T	c.(658-660)ttC>ttT	p.F220F	GSTA5_ENST00000284562.2_Silent_p.F220F|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	220					glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	ATTAAAACCTGAAAATCTTCC	0.448000													12	67					0	0	0.001368	0	0
TTI1	9675	broad.mit.edu	37	20	36641063	36641063	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:36641063G>A	ENST00000373448.2	-	3	1394	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	TTI1_ENST00000373447.3_Missense_Mutation_p.P386S|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000449821.1_Missense_Mutation_p.P386S	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	386							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						ATTAGGCGAGGAAGAGATGTG	0.438000													14	125					0	0	0.002450	0	0
ZNF658	26149	broad.mit.edu	37	9	40772423	40772423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:40772423G>A	ENST00000602553.1	-	5	3146	c.2852C>T	c.(2851-2853)tCa>tTa	p.S951L	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.S951L			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	951					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCTGAGGGTTGAATTATGGGC	0.428000													15	121					0	0	0.003163	0	0
PRRX2	51450	broad.mit.edu	37	9	132484531	132484531	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:132484531C>T	ENST00000372469.4	+	4	889	c.662C>T	c.(661-663)cCc>cTc	p.P221L		NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	221						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				AGCTCAGGCCCCGCAACCCCA	0.632000													7	25					0	0	0.003080	0	0
CHM	1121	broad.mit.edu	37	X	85218957	85218957	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:85218957G>A	ENST00000357749.2	-	5	444	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	CHM_ENST00000537751.1_5'UTR|CHM_ENST00000467744.1_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	139					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TCCGTAGGCAGGAAGGCAGAA	0.468000													9	18					0	0	0.008291	0	0
C15orf39	56905	broad.mit.edu	37	15	75498907	75498907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:75498907C>T	ENST00000360639.2	+	2	838	c.518C>T	c.(517-519)cCc>cTc	p.P173L	C15orf39_ENST00000394987.4_Missense_Mutation_p.P173L|C15orf39_ENST00000567617.1_Missense_Mutation_p.P173L			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	173										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GCTGACCCACCCTGCTCTCTG	0.622000													7	60					0	0	0.004482	0	0
PRRT1	80863	broad.mit.edu	37	6	32118437	32118437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:32118437G>A	ENST00000211413.5	-	2	390	c.266C>T	c.(265-267)cCt>cTt	p.P89L	PRRT1_ENST00000375150.2_Intron|PRRT1_ENST00000375152.2_Intron	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	89					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						AGGGCCGGGAGGGGCGTGGTG	0.751000													4	27					0	0	0.000602	0	0
ANK1	286	broad.mit.edu	37	8	41563675	41563675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:41563675C>T	ENST00000396942.1	-	18	2166	c.2083G>A	c.(2083-2085)Gac>Aac	p.D695N	ANK1_ENST00000379758.2_Missense_Mutation_p.D695N|ANK1_ENST00000347528.4_Missense_Mutation_p.D695N|ANK1_ENST00000352337.4_Missense_Mutation_p.D695N|ANK1_ENST00000265709.8_Missense_Mutation_p.D728N|ANK1_ENST00000289734.7_Missense_Mutation_p.D695N|ANK1_ENST00000396945.1_Missense_Mutation_p.D695N			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	695	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTGGTGGCGTCCACCATGACG	0.542000													7	36					0	0	0.004482	0	0
C2orf53	339779	broad.mit.edu	37	2	27360809	27360809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:27360809G>A	ENST00000335524.3	-	3	914	c.389C>T	c.(388-390)cCc>cTc	p.P130L		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	130	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					aggctgggagggagaaaagga	0.612000													5	14					0	0	0.000602	0	0
ANAPC2	29882	broad.mit.edu	37	9	140075357	140075357	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:140075357G>A	ENST00000323927.2	-	8	1497	c.1493C>T	c.(1492-1494)tCa>tTa	p.S498L		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	498					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GATGTCCGATGAACGCCGCTT	0.647000													6	62					0	0	0.003080	0	0
HCFC1	3054	broad.mit.edu	37	X	153222120	153222120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:153222120G>A	ENST00000310441.7	-	15	3557	c.2591C>T	c.(2590-2592)gCc>gTc	p.A864V	HCFC1_ENST00000354233.3_Missense_Mutation_p.A795V|HCFC1_ENST00000369984.4_Missense_Mutation_p.A864V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	864	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCTTGACGGCGGAGACGGT	0.632000													12	19					0	0	0.001368	0	0
AFG3L2	10939	broad.mit.edu	37	18	12353120	12353120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:12353120G>A	ENST00000269143.3	-	10	1433	c.1202C>T	c.(1201-1203)cCt>cTt	p.P401L		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	401					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	GAGGATGCAAGGGGCATTCTT	0.473000													4	65					0	0	0.000602	0	0
EHD3	30845	broad.mit.edu	37	2	31489123	31489123	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:31489123C>T	ENST00000322054.5	+	6	1446	c.1161C>T	c.(1159-1161)gcC>gcT	p.A387A	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	387					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					ACATGCTGGCCCATGACATTG	0.627000													5	38					0	0	0.000602	0	0
MAP3K5	4217	broad.mit.edu	37	6	137019667	137019667	+	Missense_Mutation	SNP	G	G	A	rs145735047		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:137019667G>A	ENST00000359015.4	-	4	1126	c.766C>T	c.(766-768)Cgt>Tgt	p.R256C		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	256					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	p.R256C(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGAATAAAACGATCCACAAGA	0.408000													4	17					0	0	0.000248	0	0
CES4A	283848	broad.mit.edu	37	16	67039179	67039179	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:67039179G>A	ENST00000540947.2	+	11	1382	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	CES4A_ENST00000398354.1_Missense_Mutation_p.E373K|CES4A_ENST00000338718.4_Missense_Mutation_p.E423K|CES4A_ENST00000541479.1_Missense_Mutation_p.E396K|CES4A_ENST00000540579.1_Missense_Mutation_p.E302K|CES4A_ENST00000326686.5_Missense_Mutation_p.E400K|CES4A_ENST00000535696.1_Missense_Mutation_p.E306K	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN	carboxylesterase 4A	400						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						TGTGGTGGAGGAGTACCTGGA	0.537000													5	65					0	0	0.001984	0	0
PUM1	9698	broad.mit.edu	37	1	31467992	31467992	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:31467992G>A	ENST00000373747.3	-	6	895	c.796C>T	c.(796-798)Cta>Tta	p.L266L	PUM1_ENST00000426105.2_Silent_p.L266L|PUM1_ENST00000373741.4_Silent_p.L302L|PUM1_ENST00000373742.2_Silent_p.L206L|PUM1_ENST00000423018.2_Silent_p.L170L|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000257075.5_Silent_p.L266L|PUM1_ENST00000440538.2_Silent_p.L266L	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	266					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AAATCTCCTAGCTTATCTCCA	0.428000													23	121					0	0	0.003330	0	0
HDAC9	9734	broad.mit.edu	37	7	18631231	18631231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:18631231C>T	ENST00000406451.3	+	5	649	c.499C>T	c.(499-501)Cat>Tat	p.H167Y	HDAC9_ENST00000417496.2_Missense_Mutation_p.H209Y|HDAC9_ENST00000405010.3_Missense_Mutation_p.H167Y|HDAC9_ENST00000524023.1_Missense_Mutation_p.H136Y|HDAC9_ENST00000428307.2_Missense_Mutation_p.H167Y|HDAC9_ENST00000441542.2_Missense_Mutation_p.H170Y|HDAC9_ENST00000456174.2_Missense_Mutation_p.H139Y|HDAC9_ENST00000401921.1_Missense_Mutation_p.H170Y|HDAC9_ENST00000406072.1_Missense_Mutation_p.H198Y|HDAC9_ENST00000432645.2_Missense_Mutation_p.H167Y	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	167					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGGAAAAAATCATTCCGTGAG	0.448000													7	48					0	0	0.006214	0	0
TEX33	339669	broad.mit.edu	37	22	37397952	37397952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:37397952C>T	ENST00000405091.2	-	4	666	c.415G>A	c.(415-417)Ggc>Agc	p.G139S	TEX33_ENST00000381821.1_Missense_Mutation_p.G139S|TEX33_ENST00000402860.3_Missense_Mutation_p.G54S			O43247	EAN57_HUMAN	testis expressed 33	139																	ATGATGCTGCCCTTCTGGTTC	0.632000													3	15					0	0	0.000248	0	0
MPDU1	9526	broad.mit.edu	37	17	7487253	7487253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:7487253C>T	ENST00000250124.6	+	1	289	c.73C>T	c.(73-75)Caa>Taa	p.Q25*	MPDU1_ENST00000423172.2_Nonsense_Mutation_p.Q25*|AC113189.5_ENST00000417897.1_RNA|AC113189.5_ENST00000415124.1_RNA|MPDU1_ENST00000396501.4_Nonsense_Mutation_p.Q25*|MPDU1_ENST00000582151.1_Nonsense_Mutation_p.Q25*	NM_004870.3	NP_004861.2	O75352	MPU1_HUMAN	mannose-P-dolichol utilization defect 1	25					dolichol-linked oligosaccharide biosynthetic process|protein folding	endoplasmic reticulum membrane|integral to membrane|mitochondrion	protein binding			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1)	7						ATGCTACGACCAACTTTTCGT	0.532000													19	112					0	0	0.007413	0	0
ZNF609	23060	broad.mit.edu	37	15	64968436	64968436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:64968436C>T	ENST00000326648.3	+	4	3511	c.3383C>T	c.(3382-3384)cCa>cTa	p.P1128L		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1128						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGATGGATCCAATACTCTGG	0.507000													7	60					0	0	0.004482	0	0
FAM184A	79632	broad.mit.edu	37	6	119301410	119301410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:119301410C>T	ENST00000338891.7	-	10	2637	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	FAM184A_ENST00000368475.4_Missense_Mutation_p.E612K|FAM184A_ENST00000521531.1_Missense_Mutation_p.E732K|FAM184A_ENST00000352896.5_Missense_Mutation_p.E612K|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	732								p.E732K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCTTCAAGCTCTTGCGTAAGC	0.428000													12	49					0	0	0.000978	0	0
NIM1K	167359	broad.mit.edu	37	5	43246149	43246149	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:43246149G>A	ENST00000512796.1	+	2	1771	c.272G>A	c.(271-273)gGg>gAg	p.G91E	NIM1_ENST00000326035.2_Missense_Mutation_p.G91E			Q8IY84	NIM1_HUMAN		91	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										GTGAAGCTTGGGATTCACTCC	0.537000													6	32					0	0	0.003080	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111																		p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328000													3	27					0	0	0.004672	0	0
PRRG3	79057	broad.mit.edu	37	X	150869199	150869199	+	Silent	SNP	C	C	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:150869199C>A	ENST00000370353.3	+	4	780	c.390C>A	c.(388-390)ccC>ccA	p.P130P	PRRG3_ENST00000538575.1_Silent_p.P130P			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	130						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ACACCCTCCCCCGGGTCATGG	0.657000													8	25					0.000274275	0.000309707	0.004482	1	0
MAP4K4	9448	broad.mit.edu	37	2	102441817	102441817	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:102441817G>A	ENST00000413150.2	+	5	398	c.343G>A	c.(343-345)Gac>Aac	p.D115N	MAP4K4_ENST00000425019.1_Missense_Mutation_p.D115N|MAP4K4_ENST00000324219.4_Missense_Mutation_p.D115N|MAP4K4_ENST00000456652.1_Missense_Mutation_p.D115N|MAP4K4_ENST00000350878.4_Missense_Mutation_p.D95N|MAP4K4_ENST00000302217.5_Missense_Mutation_p.D115N|MAP4K4_ENST00000350198.4_Missense_Mutation_p.D115N|MAP4K4_ENST00000347699.4_Missense_Mutation_p.D115N	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	115	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GTCCATTACAGACCTTGTGAA	0.463000													4	19					0	0	0.000248	0	0
FAM171A1	221061	broad.mit.edu	37	10	15325960	15325960	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:15325960T>C	ENST00000378116.4	-	2	248	c.242A>G	c.(241-243)aAg>aGg	p.K81R		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	81						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						ACTGCCCAGCTTATACTGGAA	0.562000													4	40					0	0	0.000248	0	0
ZNF658	26149	broad.mit.edu	37	9	40772600	40772600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:40772600G>A	ENST00000602553.1	-	5	2969	c.2675C>T	c.(2674-2676)tCc>tTc	p.S892F	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.S892F			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	892					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGATGTCTTGGAGAAAGTCTT	0.448000													7	99					0	0	0.003080	0	0
NYAP1	222950	broad.mit.edu	37	7	100086302	100086302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:100086302C>T	ENST00000423930.1	+	4	1117	c.958C>T	c.(958-960)Cct>Tct	p.P320S	NYAP1_ENST00000300179.2_Missense_Mutation_p.P320S|NYAP1_ENST00000454988.1_Missense_Mutation_p.P263S			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	320	Pro-rich.																CAAGACCACTCCTTGTGAAAT	0.687000													6	60					0	0	0.003080	0	0
MAGI1	9223	broad.mit.edu	37	3	65361455	65361455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:65361455C>T	ENST00000330909.8	-	19	3244	c.3245G>A	c.(3244-3246)gGa>gAa	p.G1082E	MAGI1_ENST00000402939.2_Missense_Mutation_p.G1054E|MAGI1_ENST00000483466.1_Missense_Mutation_p.G1083E|MAGI1_ENST00000497477.2_Intron	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1083					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AACTGTGTTTCCCGCTTCCTT	0.448000													10	91					0	0	0.001855	0	0
ZNF385B	151126	broad.mit.edu	37	2	180309666	180309666	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:180309666C>T	ENST00000410066.1	-	9	1737	c.1134G>A	c.(1132-1134)ggG>ggA	p.G378G	ZNF385B_ENST00000409343.1_Silent_p.G302G|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Silent_p.G276G|ZNF385B_ENST00000336917.5_Silent_p.G276G	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	378						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TCAGTGGTTTCCCTGCAACTC	0.443000													27	104					0	0	0.001786	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111636043	111636043	+	Silent	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:111636043T>G	ENST00000527614.1	-	2	245	c.180A>C	c.(178-180)cgA>cgC	p.R60R	PPP2R1B_ENST00000393055.2_Silent_p.R60R|PPP2R1B_ENST00000311129.5_Silent_p.R60R|PPP2R1B_ENST00000426998.2_Intron|PPP2R1B_ENST00000341980.6_Silent_p.R60R|PPP2R1B_ENST00000427203.2_5'UTR	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	60							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		ACAATTCACTTCGGGTCCTTT	0.368000													13	62					0	0	0.004007	0	0
CIITA	4261	broad.mit.edu	37	16	10996560	10996560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:10996560G>A	ENST00000324288.8	+	8	807	c.674G>A	c.(673-675)gGa>gAa	p.G225E	CIITA_ENST00000381835.5_Missense_Mutation_p.G176E|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	225					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CTCCCTGAGGGACCCATCCAG	0.537000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								7	51					0	0	0.001984	0	0
AMBRA1	55626	broad.mit.edu	37	11	46419343	46419343	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:46419343C>T	ENST00000458649.2	-	18	3972	c.3554G>A	c.(3553-3555)aGc>aAc	p.S1185N	AMBRA1_ENST00000314845.3_Missense_Mutation_p.S1095N|AMBRA1_ENST00000528950.1_Missense_Mutation_p.S1156N|AMBRA1_ENST00000533727.1_Missense_Mutation_p.S1066N|AMBRA1_ENST00000534300.1_Missense_Mutation_p.S1125N|AMBRA1_ENST00000426438.1_Missense_Mutation_p.S1156N|AMBRA1_ENST00000298834.3_Missense_Mutation_p.S1125N			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1185					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AATGCGGTGGCTGACGATGAT	0.672000													4	28					0	0	0.001168	0	0
AMER2	219287	broad.mit.edu	37	13	25743771	25743771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:25743771C>T	ENST00000357816.2	-	3	2105	c.1630G>A	c.(1630-1632)Gcc>Acc	p.A544T	AMER2_ENST00000515384.1_Missense_Mutation_p.A663T|AMER2_ENST00000381853.3_Missense_Mutation_p.A544T					APC membrane recruitment protein 2																		TCGTGGCAGGCCGTTGCTCTG	0.547000													5	51					0	0	0.000602	0	0
NXPE3	91775	broad.mit.edu	37	3	101535694	101535694	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:101535694T>A	ENST00000422132.1	+	4	1175	c.978T>A	c.(976-978)taT>taA	p.Y326*	NXPE3_ENST00000477909.1_Nonsense_Mutation_p.Y326*|NXPE3_ENST00000273347.5_Nonsense_Mutation_p.Y326*|NXPE3_ENST00000491511.1_Nonsense_Mutation_p.Y326*					neurexophilin and PC-esterase domain family, member 3																		CTGGGTATTATTATAAAGACC	0.353000													4	43					0	0	0.000248	0	0
GPR112	139378	broad.mit.edu	37	X	135429806	135429806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:135429806C>T	ENST00000394143.1	+	6	4232	c.3941C>T	c.(3940-3942)tCg>tTg	p.S1314L	GPR112_ENST00000412101.1_Missense_Mutation_p.S1109L|GPR112_ENST00000287534.4_Missense_Mutation_p.S1251L|GPR112_ENST00000394141.1_Missense_Mutation_p.S1109L|GPR112_ENST00000370652.1_Missense_Mutation_p.S1314L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1314					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S1314L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAAACACATTCGCCTTCAGAG	0.433000													11	19					0	0	0.001368	0	0
RGL2	5863	broad.mit.edu	37	6	33263311	33263311	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:33263311G>A	ENST00000497454.1	-	7	1489	c.994C>T	c.(994-996)Ctg>Ttg	p.L332L	RGL2_ENST00000444031.2_Silent_p.L250L|RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	332	Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CACTTCTCCAGGAGCCGGGCC	0.602000													6	25					0	0	0.001168	0	0
VPS13C	54832	broad.mit.edu	37	15	62204146	62204146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:62204146G>A	ENST00000261517.5	-	63	8681	c.8608C>T	c.(8608-8610)Ccc>Tcc	p.P2870S	VPS13C_ENST00000395896.4_Missense_Mutation_p.P2870S|VPS13C_ENST00000249837.3_Missense_Mutation_p.P2827S|VPS13C_ENST00000395898.3_Missense_Mutation_p.P2827S	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2870					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GTACAAAAGGGAGTCAGGGTA	0.378000													5	38					0	0	0.000602	0	0
PHF3	23469	broad.mit.edu	37	6	64422952	64422952	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:64422952T>G	ENST00000262043.3	+	16	5808	c.5468T>G	c.(5467-5469)tTt>tGt	p.F1823C	PHF3_ENST00000393387.1_Missense_Mutation_p.F1823C			Q92576	PHF3_HUMAN	PHD finger protein 3	1823	Pro-rich.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CCTCCTAATTTTCCCCCACAA	0.502000													14	111					0	0	0.004007	0	0
IGHV6-1	28385	broad.mit.edu	37	14	106405666	106405666	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:106405666G>A	ENST00000390593.2	-	0	359																											CAGCTGCAGGGAGAACTGGTT	0.493000													12	64					0	0	0.001855	0	0
SYNJ2	8871	broad.mit.edu	37	6	158514070	158514070	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:158514070C>T	ENST00000355585.4	+	26	3753	c.3678C>T	c.(3676-3678)ctC>ctT	p.L1226L	SYNJ2_ENST00000367121.3_Silent_p.L1226L|SYNJ2_ENST00000367122.2_Silent_p.L1181L|SYNJ2_ENST00000367112.1_Silent_p.L311L	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1226	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CGCCCCCACTCCTTCCCCGTC	0.587000													4	19					0	0	0.000248	0	0
CYP24A1	1591	broad.mit.edu	37	20	52774093	52774093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:52774093C>T	ENST00000216862.3	-	10	1661	c.1268G>A	c.(1267-1269)gGa>gAa	p.G423E	CYP24A1_ENST00000395955.3_Intron|CYP24A1_ENST00000395954.3_Missense_Mutation_p.G281E	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	423					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TTCACTGGATCCCAACACCTG	0.393000													6	62					0	0	0.001984	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960692	33960692	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:33960692C>T	ENST00000361328.3	+	8	2901	c.2748C>T	c.(2746-2748)tcC>tcT	p.S916S		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	916					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GTAAGAGCTCCACCCTGGCCA	0.517000													10	66					0	0	0.008291	0	0
BSN	8927	broad.mit.edu	37	3	49688110	49688110	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:49688110G>A	ENST00000296452.4	+	4	1698	c.1584G>A	c.(1582-1584)ccG>ccA	p.P528P		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	528					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TAGGAGAGCCGACCCCCCTGC	0.612000													13	111					0	0	0.001855	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606371	84606371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:84606371C>T	ENST00000344803.2	+	4	1033	c.986C>T	c.(985-987)tCt>tTt	p.S329F		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		GAAATGTTATCTCTAGGTGGC	0.488000													14	103					0	0	0.002450	0	0
PCSK6	5046	broad.mit.edu	37	15	101972284	101972284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:101972284C>T	ENST00000348070.1	-	4	420	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	PCSK6_ENST00000398181.2_Missense_Mutation_p.E141K|PCSK6_ENST00000358417.3_Missense_Mutation_p.E141K|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Missense_Mutation_p.E141K	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	142					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGTTTCACTTCCTGTTGCTGG	0.458000													4	20					0	0	0.000602	0	0
USP54	159195	broad.mit.edu	37	10	75302567	75302567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:75302567G>A	ENST00000339859.4	-	6	666	c.566C>T	c.(565-567)tCc>tTc	p.S189F	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Intron|USP54_ENST00000408019.1_Missense_Mutation_p.S189F|USP54_ENST00000319786.7_Missense_Mutation_p.S189F|USP54_ENST00000497106.1_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	189					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TCACCAAAGGGAAGTGGTGGA	0.423000													4	23					0	0	0.000248	0	0
OR13G1	441933	broad.mit.edu	37	1	247836279	247836279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:247836279C>T	ENST00000359688.2	-	1	86	c.65G>A	c.(64-66)gGa>gAa	p.G22E	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAAGATAATTCCCTGGAGTTC	0.428000													9	57					0	0	0.000978	0	0
SCAF4	57466	broad.mit.edu	37	21	33067281	33067281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:33067281G>A	ENST00000286835.7	-	10	1463	c.1081C>T	c.(1081-1083)Cct>Tct	p.P361S	SCAF4_ENST00000399804.1_Missense_Mutation_p.P361S|SCAF4_ENST00000434667.3_Missense_Mutation_p.P346S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	361						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGTCCATTAGGAGGAAGTGGA	0.383000													4	38					0	0	0.000248	0	0
GALNT15	117248	broad.mit.edu	37	3	16268889	16268889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:16268889G>A	ENST00000339732.5	+	10	2305	c.1802G>A	c.(1801-1803)gGg>gAg	p.G601E	GALNT15_ENST00000437509.1_Intron	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		ATTCTTTCTGGGAAATGCATG	0.403000													6	70					0	0	0.001984	0	0
ATP2B3	492	broad.mit.edu	37	X	152818531	152818531	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:152818531G>A	ENST00000370186.1	+	11	2146	c.1820G>A	c.(1819-1821)gGc>gAc	p.G607D	ATP2B3_ENST00000349466.2_Missense_Mutation_p.G621D|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G621D|ATP2B3_ENST00000263519.4_Missense_Mutation_p.G621D|ATP2B3_ENST00000370181.2_Missense_Mutation_p.G607D|ATP2B3_ENST00000393842.1_Missense_Mutation_p.G607D			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	621					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAACTCCGGGGCTTTCGGCCT	0.607000													5	19					0	0	0.001984	0	0
TGM2	7052	broad.mit.edu	37	20	36776477	36776477	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:36776477G>A	ENST00000361475.2	-	5	740	c.567C>T	c.(565-567)atC>atT	p.I189I	TGM2_ENST00000536701.1_Silent_p.I108I|TGM2_ENST00000536724.1_Silent_p.I129I	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	189					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	AGATGTCTAGGATCCCATCTT	0.587000													7	75					0	0	0.001984	0	0
RHPN1	114822	broad.mit.edu	37	8	144463806	144463806	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:144463806G>A	ENST00000289013.6	+	13	1654	c.1553G>A	c.(1552-1554)cGa>cAa	p.R518Q		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	543					signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CACCTGACCCGAGGAGAGGGC	0.711000													5	27					0	0	0.000602	0	0
RYR3	6263	broad.mit.edu	37	15	33858947	33858947	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:33858947C>T	ENST00000389232.4	+	12	1285	c.1215C>T	c.(1213-1215)tcC>tcT	p.S405S	RYR3_ENST00000415757.3_Silent_p.S405S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	405					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTGAGGAGTCCCAGGCTGCTC	0.532000													5	87					0	0	0.001168	0	0
HNF1A	6927	broad.mit.edu	37	12	121426657	121426657	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:121426657G>A	ENST00000257555.6	+	2	574	c.348G>A	c.(346-348)gcG>gcA	p.A116A	HNF1A_ENST00000402929.1_Silent_p.A116A|HNF1A_ENST00000400024.2_Silent_p.A116A|HNF1A_ENST00000543427.1_5'UTR|HNF1A_ENST00000544413.1_Silent_p.A116A|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000541395.1_Silent_p.A116A			P20823	HNF1A_HUMAN	HNF1 homeobox A	116					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCGTGTGGCGAAGATGGTCA	0.627000									Hepatic Adenoma, Familial Clustering of				22	171					0	0	0.002780	0	0
C3orf62	375341	broad.mit.edu	37	3	49308822	49308822	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:49308822C>T	ENST00000343010.3	-	3	1631	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K		NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	199										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGGTTCAATTCGTTTTCAAAT	0.428000													8	51					0	0	0.003080	0	0
AHNAK	79026	broad.mit.edu	37	11	62295588	62295588	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:62295588T>C	ENST00000378024.4	-	5	6575	c.6301A>G	c.(6301-6303)Aag>Gag	p.K2101E	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2101					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGGGCCCTTCAGCTTCCCT	0.522000													18	148					0	0	0.004990	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179302075	179302075	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:179302075G>A	ENST00000356834.3	-	12	2050	c.2013C>T	c.(2011-2013)ttC>ttT	p.F671F	TBC1D9B_ENST00000355235.3_Silent_p.F671F	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	671	Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGGGTCAGGAACCAGGACA	0.587000													5	40					0	0	0.001168	0	0
PCLO	27445	broad.mit.edu	37	7	82585486	82585486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:82585486C>T	ENST00000423517.2	-	5	5120	c.4783G>A	c.(4783-4785)Gaa>Aaa	p.E1595K	PCLO_ENST00000333891.8_Missense_Mutation_p.E1595K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1526					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGTTTCTTCCTTCTTCTGG	0.428000													15	180					0	0	0.004990	0	0
MYO5C	55930	broad.mit.edu	37	15	52487585	52487585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:52487585G>A	ENST00000261839.7	-	40	5226	c.5065C>T	c.(5065-5067)Cgc>Tgc	p.R1689C	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1689	Dilute.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGTACTTTGCGAACAAAGGAT	0.348000													11	34					0	0	0.001855	0	0
KLK5	25818	broad.mit.edu	37	19	51446984	51446984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:51446984C>T	ENST00000336334.3	-	6	1137	c.785G>A	c.(784-786)gGa>gAa	p.G262E	KLK5_ENST00000391809.2_Missense_Mutation_p.G262E|KLK5_ENST00000593428.1_Missense_Mutation_p.G262E	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	262	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		AGGGTAATCTCCCCAGGACAC	0.597000													7	25					0	0	0.003080	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032274	10032274	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:10032274G>A	ENST00000396573.2	-	4	858	c.549C>T	c.(547-549)ttC>ttT	p.F183F	GRIN2A_ENST00000562109.1_Silent_p.F183F|GRIN2A_ENST00000396575.2_Silent_p.F183F|GRIN2A_ENST00000330684.3_Silent_p.F183F|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000404927.2_Silent_p.F183F|GRIN2A_ENST00000535259.1_Silent_p.F26F	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	183					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGAAGCTGATGAATTCCCTGT	0.507000													6	79					0	0	0.001984	0	0
NLRP12	91662	broad.mit.edu	37	19	54310786	54310786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:54310786C>T	ENST00000324134.6	-	4	2374	c.2206G>A	c.(2206-2208)Gga>Aga	p.G736R	NLRP12_ENST00000345770.5_Missense_Mutation_p.G737R|NLRP12_ENST00000351894.4_Missense_Mutation_p.G736R|NLRP12_ENST00000391775.3_Missense_Mutation_p.G736R|NLRP12_ENST00000391772.1_Missense_Mutation_p.G737R|NLRP12_ENST00000535162.1_Missense_Mutation_p.G736R|NLRP12_ENST00000391773.1_Missense_Mutation_p.G737R|NLRP12_ENST00000354278.3_Missense_Mutation_p.G736R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	736					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGTCTGAGTCCTTGACAGAGC	0.587000													4	10					0	0	0.000248	0	0
AMOTL1	154810	broad.mit.edu	37	11	94599214	94599214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:94599214C>T	ENST00000433060.2	+	11	2510	c.2369C>T	c.(2368-2370)cCt>cTt	p.P790L	AMOTL1_ENST00000317829.8_Missense_Mutation_p.P740L|AMOTL1_ENST00000317837.9_Intron	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	790						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				AGCCTACGTCCTGCCCGCTCC	0.527000													6	21					0	0	0.001168	0	0
MYO9A	4649	broad.mit.edu	37	15	72190946	72190946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:72190946G>A	ENST00000356056.5	-	25	4370	c.3898C>T	c.(3898-3900)Cct>Tct	p.P1300S	MYO9A_ENST00000566885.1_Missense_Mutation_p.P920S|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.P1300S|MYO9A_ENST00000444904.1_Missense_Mutation_p.P1281S|MYO9A_ENST00000564571.1_Missense_Mutation_p.P1300S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1300	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCTCTGAAGGAGAAATACCA	0.468000													5	65					0	0	0.000602	0	0
KCNB1	3745	broad.mit.edu	37	20	47991332	47991332	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:47991332C>T	ENST00000371741.4	-	2	931	c.765G>A	c.(763-765)tgG>tgA	p.W255*		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	255					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGAAGAACTTCCACTTCTTGG	0.542000													5	28					0	0	0.001168	0	0
SLC27A6	28965	broad.mit.edu	37	5	128351617	128351617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:128351617G>A	ENST00000262462.4	+	5	2019	c.1009G>A	c.(1009-1011)Gga>Aga	p.G337R	SLC27A6_ENST00000506176.1_Missense_Mutation_p.G337R|SLC27A6_ENST00000395266.1_Missense_Mutation_p.G337R			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	337					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTTGGCAATTGGAAATGGCAT	0.333000													13	32					0	0	0.004007	0	0
ZNF609	23060	broad.mit.edu	37	15	64791938	64791938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:64791938C>T	ENST00000326648.3	+	1	448	c.320C>T	c.(319-321)tCc>tTc	p.S107F	ZNF609_ENST00000416172.1_Missense_Mutation_p.S107F	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	107						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAGGGACTTCCCTGTTCACT	0.547000													8	29					0	0	0.003080	0	0
SLC1A6	6511	broad.mit.edu	37	19	15061145	15061145	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:15061145G>A	ENST00000430939.2	-	9	1494	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	SLC1A6_ENST00000221742.3_Silent_p.I519I|SLC1A6_ENST00000600144.1_Silent_p.I441I			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	519					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	ACAAGTGCTCGATGACGGCCG	0.582000													6	39					0	0	0.001168	0	0
HPS1	3257	broad.mit.edu	37	10	100179853	100179853	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:100179853G>A	ENST00000325103.6	-	18	2039	c.1806C>T	c.(1804-1806)ttC>ttT	p.F602F	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.F602F	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	602					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CCCCCTCCTGGAACAGCAGCG	0.592000									Hermansky-Pudlak syndrome				13	109					0	0	0.001855	0	0
GRM8	2918	broad.mit.edu	37	7	126882983	126882983	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:126882983G>A	ENST00000339582.2	-	2	1084	c.276C>T	c.(274-276)ctC>ctT	p.L92L	GRM8_ENST00000444921.2_Silent_p.L92L|GRM8_ENST00000405249.1_Silent_p.L92L|GRM8_ENST00000358373.3_Silent_p.L92L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	92					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGTTGGAAAGGAGATCAGGGT	0.502000										HNSCC(24;0.065)			5	24					0	0	0.001168	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94685905	94685905	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:94685905G>A	ENST00000260526.6	-	3	431	c.249C>T	c.(247-249)ctC>ctT	p.L83L	ARHGAP29_ENST00000370217.3_Silent_p.L83L	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	83					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	p.L83L(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTAAAACACGGAGCAGTTCCT	0.313000													11	38					0	0	0.008291	0	0
CYP3A7	1551	broad.mit.edu	37	7	99332688	99332688	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:99332688T>C	ENST00000336374.2	-	1	31	c.29A>G	c.(28-30)gAa>gGa	p.E10G		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	10					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AAGCCAGGTTTCCACGGCCAA	0.502000													9	45					0	0	0.006214	0	0
MAP4	4134	broad.mit.edu	37	3	47951304	47951304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:47951304G>A	ENST00000426837.2	-	10	4745	c.4658C>T	c.(4657-4659)tCc>tTc	p.S1553F	MAP4_ENST00000395734.3_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.S143F|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	923					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		ATTTTTCATGGAATCAGCAAG	0.433000													6	78					0	0	0.001168	0	0
KIAA1191	57179	broad.mit.edu	37	5	175774688	175774688	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:175774688G>A	ENST00000298569.4	-	9	1366	c.833C>T	c.(832-834)cCa>cTa	p.P278L	KIAA1191_ENST00000393725.2_Missense_Mutation_p.P259L|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000510164.1_Missense_Mutation_p.P278L	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	278							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		TTCCATCACTGGGATGTCCAT	0.572000													12	86					0	0	0.000978	0	0
MME	4311	broad.mit.edu	37	3	154802065	154802065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:154802065C>T	ENST00000460393.1	+	2	229	c.109C>T	c.(109-111)Ctc>Ttc	p.L37F	MME_ENST00000382989.3_Missense_Mutation_p.L37F|MME_ENST00000493237.1_Missense_Mutation_p.L37F|MME_ENST00000360490.2_Missense_Mutation_p.L37F|MME_ENST00000462745.1_Missense_Mutation_p.L37F|MME_ENST00000492661.1_Missense_Mutation_p.L37F	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	37					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CCTTGTCCTGCTCCTCACCAT	0.468000													7	84					0	0	0.003080	0	0
SARDH	1757	broad.mit.edu	37	9	136596581	136596581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:136596581G>A	ENST00000371872.4	-	4	793	c.536C>T	c.(535-537)tCc>tTc	p.S179F	SARDH_ENST00000422262.2_Missense_Mutation_p.S11F|SARDH_ENST00000298628.5_Missense_Mutation_p.S179F|SARDH_ENST00000439388.1_Missense_Mutation_p.S179F|SARDH_ENST00000371867.1_Missense_Mutation_p.S90F	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	179					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CAGCACATGGGATTCCACACC	0.627000													6	30					0	0	0.003080	0	0
TP73	7161	broad.mit.edu	37	1	3644768	3644768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:3644768C>T	ENST00000378295.4	+	9	1216	c.1061C>T	c.(1060-1062)aCg>aTg	p.T354M	TP73_ENST00000378280.1_Missense_Mutation_p.T305M|TP73_ENST00000354437.4_Missense_Mutation_p.T354M|TP73_ENST00000603362.1_Missense_Mutation_p.T354M|TP73_ENST00000346387.4_Missense_Mutation_p.T354M|TP73_ENST00000378285.1_Missense_Mutation_p.T305M|TP73_ENST00000357733.3_Missense_Mutation_p.T354M|TP73_ENST00000604479.1_Missense_Mutation_p.T354M|TP73_ENST00000378288.4_Missense_Mutation_p.T305M|TP73_ENST00000378290.4_Missense_Mutation_p.T283M|TP73_ENST00000604074.1_Missense_Mutation_p.T354M	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	354	Interaction with HIPK2.|Oligomerization (Potential).				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GACGAGGACACGTACTACCTT	0.677000													12	58					0	0	0.002450	0	0
OR2J2	26707	broad.mit.edu	37	6	29142132	29142132	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:29142132G>A	ENST00000377167.2	+	1	822	c.720G>A	c.(718-720)agG>agA	p.R240R		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AAGTGTTTAGGACATGTGGAG	0.458000													9	137					0	0	0.004482	0	0
SLC35F3	148641	broad.mit.edu	37	1	234454586	234454586	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:234454586C>T	ENST00000366618.3	+	6	1189	c.1044C>T	c.(1042-1044)atC>atT	p.I348I	SLC35F3_ENST00000366617.3_Silent_p.I279I	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	279					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCCTCTTCATCACCTGCATTC	0.418000													12	136					0	0	0.000978	0	0
ABHD8	79575	broad.mit.edu	37	19	17412092	17412092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:17412092C>T	ENST00000247706.3	-	2	573	c.334G>A	c.(334-336)Gag>Aag	p.E112K	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	112							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GCCGGCGGCTCCCCAGAGCCA	0.721000													8	25					0	0	0.006214	0	0
HMGCS2	3158	broad.mit.edu	37	1	120307109	120307109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:120307109C>T	ENST00000369406.3	-	2	294	c.245G>A	c.(244-246)gGa>gAa	p.G82E	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Missense_Mutation_p.G82E	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	82					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TGTATACTTTCCTGCTTCCAC	0.552000													43	406					0	0	0.002522	0	0
MST1R	4486	broad.mit.edu	37	3	49939880	49939880	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:49939880G>A	ENST00000296474.3	-	1	1190	c.1163C>T	c.(1162-1164)tCc>tTc	p.S388F	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.S388F	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	388	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ATGGACTGGGGATTCACAACA	0.592000													14	78					0	0	0.001855	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531655	84531655	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:84531655C>T	ENST00000527857.1	+	0	1677					NR_026851.1																						CCATGAATCCCCAGTACTTCC	0.502000													7	46					0	0	0.001984	0	0
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	by1000genomes	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363000													4	77					0	0	0.000602	0	0
NDRG1	10397	broad.mit.edu	37	8	134276895	134276895	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:134276895C>T	ENST00000414097.2	-	4	967	c.99_splice	c.e4-1	p.E34_splice	NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000537882.1_Intron|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000354944.5_Splice_Site_p.E34_splice|NDRG1_ENST00000323851.7_Splice_Site_p.E34_splice|NDRG1_ENST00000522476.1_5'UTR	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	34					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ATGTCCTGCTCCTGAGGAGAC	0.557000			T	ERG	prostate								7	38					0	0	0.001984	0	0
COL1A1	1277	broad.mit.edu	37	17	48271376	48271376	+	Silent	SNP	G	G	A	rs74315120		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:48271376G>A	ENST00000225964.5	-	25	1813	c.1695C>T	c.(1693-1695)ccC>ccT	p.P565P		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	565	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CTGGGGGTCCGGGGCGACCAT	0.612000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						6	59					0	0	0.001168	0	0
SLAMF7	57823	broad.mit.edu	37	1	160720138	160720138	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:160720138C>T	ENST00000368043.3	+	4	731	c.694C>T	c.(694-696)Ctg>Ttg	p.L232L	SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000359331.4_Silent_p.L232L|SLAMF7_ENST00000368042.3_Silent_p.L125L|SLAMF7_ENST00000458602.2_Intron	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	232					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCTGTGTCTCCTGTTGGTGCC	0.502000													16	176					0	0	0.004990	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42161479	42161479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:42161479C>T	ENST00000444063.1	+	9	1213	c.1081C>T	c.(1081-1083)Ctt>Ttt	p.L361F	L3MBTL1_ENST00000427442.2_Missense_Mutation_p.L429F|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.L361F|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.L361F|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.L429F			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	361					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GAACCCGTCCCTTGTCTGCGT	0.597000													21	103					0	0	0.002299	0	0
LCK	3932	broad.mit.edu	37	1	32745266	32745266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:32745266C>T	ENST00000333070.4	+	10	1149	c.1049C>T	c.(1048-1050)cCc>cTc	p.P350L	LCK_ENST00000336890.5_Intron|LCK_ENST00000373564.3_Intron	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	321	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	TTGCTTCTGCCCACAGGGAGT	0.547000			T	TRB@	T-ALL								20	105					0	0	0.008871	0	0
MSL3	10943	broad.mit.edu	37	X	11790277	11790277	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:11790277C>T	ENST00000380693.3	+	10	1423	c.786C>T	c.(784-786)gtC>gtT	p.V262V	MSL3_ENST00000312196.4_Silent_p.V428V|MSL3_ENST00000398527.2_Silent_p.V416V|MSL3_ENST00000361672.2_Silent_p.V279V	NM_006800.3	NP_006791.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	428					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TTTTCCAGGTCCTCTCCTGGA	0.448000													14	35					0	0	0.003163	0	0
ENPP1	5167	broad.mit.edu	37	6	132176142	132176142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:132176142C>T	ENST00000360971.2	+	6	714	c.694C>T	c.(694-696)Ctt>Ttt	p.L232F		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	232	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GGGTGGACTTCTTCCTGTTAT	0.393000													6	54					0	0	0.001984	0	0
AGMAT	79814	broad.mit.edu	37	1	15906600	15906600	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:15906600C>T	ENST00000375826.3	-	3	655	c.513G>A	c.(511-513)gcG>gcA	p.A171A	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	171					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTTGCCATCGCTTGCAATA	0.403000													8	40					0	0	0.008291	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512782	68512782	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:68512782G>A	ENST00000370981.1	-	4	835	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.L67L			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	67					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATGGTCGGCAGGTACTCATGA	0.592000													10	76					0	0	0.000978	0	0
SI	6476	broad.mit.edu	37	3	164792437	164792437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:164792437G>A	ENST00000264382.3	-	3	199	c.137C>T	c.(136-138)tCa>tTa	p.S46L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	46	Ser/Thr-rich.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.S46L(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGCTGGAGTTGAAGTAGAATC	0.318000										HNSCC(35;0.089)			5	67					0	0	0.001168	0	0
SULT1C2	6819	broad.mit.edu	37	2	108917375	108917375	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:108917375G>A	ENST00000326853.5	+	5	845	c.392G>A	c.(391-393)tGg>tAg	p.W131*	SULT1C2_ENST00000409880.1_Intron|SULT1C2_ENST00000437390.2_Nonsense_Mutation_p.W134*|SULT1C2_ENST00000251481.6_Nonsense_Mutation_p.W120*	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	120					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CCGTCTTTCTGGGAAAACAAC	0.493000													18	86					0	0	0.007413	0	0
ATP13A2	23400	broad.mit.edu	37	1	17313448	17313448	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:17313448G>A	ENST00000452699.1	-	27	3261	c.3072C>T	c.(3070-3072)ttC>ttT	p.F1024F	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.F985F|ATP13A2_ENST00000326735.8_Silent_p.F1029F	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	1029					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TCAGAGGCACGAACCTGGGGG	0.617000													7	45					0	0	0.001984	0	0
DBH	1621	broad.mit.edu	37	9	136505108	136505108	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:136505108C>T	ENST00000393056.2	+	2	492	c.480C>T	c.(478-480)ctC>ctT	p.L160L		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	160	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	AGGATTACCTCATTGAAGTAA	0.587000													4	24					0	0	0.000602	0	0
TOM1L1	10040	broad.mit.edu	37	17	52990072	52990072	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:52990072C>T	ENST00000575882.1	+	4	621	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	TOM1L1_ENST00000570371.1_Silent_p.L90L|TOM1L1_ENST00000540336.1_Silent_p.L13L|TOM1L1_ENST00000575333.1_Silent_p.L90L|TOM1L1_ENST00000348161.4_Silent_p.L13L|TOM1L1_ENST00000572158.1_Silent_p.L83L|TOM1L1_ENST00000572405.1_Silent_p.L55L|TOM1L1_ENST00000445275.2_Silent_p.L90L|TOM1L1_ENST00000536554.1_Silent_p.L13L	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	90	VHS.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TTTCCAGTCTCTGATTGTGAA	0.323000													8	47					0	0	0.000978	0	0
PXDNL	137902	broad.mit.edu	37	8	52366118	52366118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:52366118G>A	ENST00000356297.4	-	10	1310	c.1210C>T	c.(1210-1212)Cac>Tac	p.H404Y	PXDNL_ENST00000543296.1_Missense_Mutation_p.H404Y	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	404	Ig-like C2-type 2.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACAGTGCCGTGGCTATTGTTG	0.458000													6	49					0	0	0.001168	0	0
KLK5	25818	broad.mit.edu	37	19	51452207	51452207	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:51452207T>A	ENST00000336334.3	-	4	852	c.500A>T	c.(499-501)aAa>aTa	p.K167I	KLK5_ENST00000391809.2_Missense_Mutation_p.K167I|KLK5_ENST00000593428.1_Missense_Mutation_p.K167I	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	167	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TCTGACATCTTTAGTGGGACG	0.542000													9	41					0	0	0.006214	0	0
CER1	9350	broad.mit.edu	37	9	14720209	14720209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:14720209G>A	ENST00000380911.3	-	2	727	c.683C>T	c.(682-684)tCc>tTc	p.S228F		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	228	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CTTGATCACGGAGGAAAGTTC	0.547000													7	39					0	0	0.004482	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997097	82997097	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:82997097C>T	ENST00000307792.3	-	17	2600	c.2133G>A	c.(2131-2133)aaG>aaA	p.K711K	SEMA3E_ENST00000427262.1_Silent_p.K651K	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	711					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GCAAGAATTCCTTGTACCATG	0.453000													4	76					0	0	0.000248	0	0
GRIN2B	2904	broad.mit.edu	37	12	13828691	13828691	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:13828691C>T	ENST00000279593.3	-	4	1322	c.1113G>A	c.(1111-1113)agG>agA	p.R371R		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	371					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTTCCCACTTCCTCTCCTTGT	0.408000													16	62					0	0	0.004990	0	0
RFX5	5993	broad.mit.edu	37	1	151314894	151314894	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:151314894G>A	ENST00000290524.4	-	11	1797	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F	RFX5_ENST00000368870.2_Missense_Mutation_p.S540F|RFX5_ENST00000452513.2_Missense_Mutation_p.S500F|RFX5_ENST00000452671.2_Missense_Mutation_p.S540F	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	540						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCCTCCTTTGGAAACAGTACC	0.567000													33	101					0	0	0.005524	0	0
CDH4	1002	broad.mit.edu	37	20	60504876	60504876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:60504876C>T	ENST00000360469.5	+	13	2303	c.2215C>T	c.(2215-2217)Ctc>Ttc	p.L739F	CDH4_ENST00000543233.1_Missense_Mutation_p.L665F	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	739					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGTGGCCATCCTCATCTGCAT	0.617000													7	40					0	0	0.003080	0	0
PRH1	5554	broad.mit.edu	37	12	11034873	11034873	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:11034873G>A	ENST00000428168.2	-	4	499	c.462C>T	c.(460-462)ggC>ggT	p.G154G	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	154						extracellular space	protein binding			endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		CTTGTGGGCGGCCCCCTTGGG	0.582000													11	113					0	0	0.003163	0	0
CCER1	196477	broad.mit.edu	37	12	91348334	91348334	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:91348334G>A	ENST00000358859.2	-	1	619	c.186C>T	c.(184-186)ccC>ccT	p.P62P	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		GCTTCCTTGGGGGCCCATACT	0.662000													6	16					0	0	0.001984	0	0
ATP9A	10079	broad.mit.edu	37	20	50305663	50305663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:50305663G>A	ENST00000338821.5	-	9	1003	c.739C>T	c.(739-741)Ccg>Tcg	p.P247S	ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	247					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCGCTGATCGGGGGGTCGCTG	0.557000													32	96					0	0	0.002836	0	0
OR1E1	8387	broad.mit.edu	37	17	3301098	3301098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:3301098C>T	ENST00000322608.2	-	1	606	c.607G>A	c.(607-609)Gga>Aga	p.G203R		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						ATGAGCCCTCCCATGATAAAT	0.463000													4	15					0	0	0.001168	0	0
BSN	8927	broad.mit.edu	37	3	49692777	49692777	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:49692777G>A	ENST00000296452.4	+	5	5902	c.5788G>A	c.(5788-5790)Gat>Aat	p.D1930N		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1930					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAGCATGGCAGATGCTGCCCC	0.662000													5	42					0	0	0.000602	0	0
CASS4	57091	broad.mit.edu	37	20	55033445	55033445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:55033445G>A	ENST00000371336.3	+	6	2204	c.2003G>A	c.(2002-2004)aGg>aAg	p.R668K	CASS4_ENST00000360314.3_Missense_Mutation_p.R668K|CASS4_ENST00000434344.1_Missense_Mutation_p.R231K	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	668					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ACTCCTGAGAGGAAACCCCGC	0.532000													6	44					0	0	0.001984	0	0
TRPM8	79054	broad.mit.edu	37	2	234839312	234839312	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:234839312G>A	ENST00000324695.4	+	3	157		c.e3-1		TRPM8_ENST00000433712.2_Splice_Site|TRPM8_ENST00000409625.1_Splice_Site|TRPM8_ENST00000355722.4_Splice_Site	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8							integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCTCTCCAAAGGACTTGGTGA	0.348000													4	40					0	0	0.000602	0	0
KDM5A	5927	broad.mit.edu	37	12	493221	493221	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:493221G>A	ENST00000399788.2	-	3	704	c.342C>T	c.(340-342)atC>atT	p.I114I	KDM5A_ENST00000382815.4_Silent_p.I114I	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	114	ARID.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ACAGATCCAGGATTTTTCTCT	0.398000			T	NUP98	AML								16	133					0	0	0.004990	0	0
GPSM2	29899	broad.mit.edu	37	1	109428193	109428193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:109428193C>T	ENST00000406462.1	+	3	822	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Missense_Mutation_p.R17C			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	17					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TTTTCATGTTCGTTACAGGTA	0.294000													40	398					0	0	0.003610	0	0
DNER	92737	broad.mit.edu	37	2	230377608	230377608	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:230377608G>A	ENST00000341772.4	-	6	1172	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	346	EGF-like 3.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATTCTTCACAGAAAGTACCCA	0.438000													6	23					0	0	0.001168	0	0
DDX46	9879	broad.mit.edu	37	5	134147456	134147456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:134147456C>T	ENST00000452510.2	+	18	2515	c.2357C>T	c.(2356-2358)gCt>gTt	p.A786V	DDX46_ENST00000354283.4_Missense_Mutation_p.A786V	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	786					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACAGAACAAGCTTTGGCTAAT	0.363000													11	51					0	0	0.008291	0	0
KL	9365	broad.mit.edu	37	13	33629412	33629412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:33629412C>T	ENST00000380099.3	+	3	1567	c.1559C>T	c.(1558-1560)cCc>cTc	p.P520L	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.P213L	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	520	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGGACATTTCCCTGTGACTTT	0.438000													9	50					0	0	0.004482	0	0
ZNF143	7702	broad.mit.edu	37	11	9522699	9522699	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:9522699C>T	ENST00000396602.2	+	11	1148	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	ZNF143_ENST00000299606.2_Silent_p.I315I|ZNF143_ENST00000396604.1_Silent_p.I342I|ZNF143_ENST00000530463.1_Silent_p.I342I|ZNF143_ENST00000396597.3_Silent_p.I312I	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	343					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		CATCAAATATCAGAAAAGTGC	0.428000													12	42					0	0	0.001368	0	0
ZFAND4	93550	broad.mit.edu	37	10	46121878	46121878	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:46121878T>C	ENST00000374366.3	-	8	1636	c.1171A>G	c.(1171-1173)Agt>Ggt	p.S391G	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000344646.5_Missense_Mutation_p.S465G|ZFAND4_ENST00000374371.2_Intron			Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	465							zinc ion binding										TTGTGAGGACTTAATTCCCGG	0.448000													17	139					0	0	0.002780	0	0
CGNL1	84952	broad.mit.edu	37	15	57730340	57730340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:57730340G>A	ENST00000281282.5	+	2	221	c.143G>A	c.(142-144)gGa>gAa	p.G48E		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	48	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CGGGTCCAGGGAATTGATGGT	0.498000													9	84					0	0	0.004482	0	0
USP44	84101	broad.mit.edu	37	12	95927347	95927347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:95927347G>A	ENST00000258499.3	-	2	974	c.686C>T	c.(685-687)tCt>tTt	p.S229F	USP44_ENST00000552440.1_Missense_Mutation_p.S229F|USP44_ENST00000393091.2_Missense_Mutation_p.S229F|USP44_ENST00000537435.2_Missense_Mutation_p.S229F	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	229					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CACCTGAACAGAAACTATTTC	0.403000													7	43					0	0	0.003080	0	0
OR10A5	144124	broad.mit.edu	37	11	6867807	6867807	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:6867807G>A	ENST00000299454.4	+	1	925	c.894G>A	c.(892-894)gtG>gtA	p.V298V	OR10A5_ENST00000379831.2_Silent_p.V302V			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATAGCGAGGTGAAGAATGCCC	0.418000													16	49					0	0	0.004990	0	0
C6orf222	389384	broad.mit.edu	37	6	36293117	36293117	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:36293117G>A	ENST00000437635.2	-	6	1288	c.1111C>T	c.(1111-1113)Cca>Tca	p.P371S		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	371										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CTCTCTGATGGGGTGGGAAGC	0.562000													10	53					0	0	0.006214	0	0
GAREM	64762	broad.mit.edu	37	18	29867099	29867099	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:29867099G>A	ENST00000399218.4	-	4	1516	c.1461C>T	c.(1459-1461)tcC>tcT	p.S487S	GAREM_ENST00000269209.6_Silent_p.S487S	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		TCGCACATTTGGATCGGACAG	0.547000													10	83					0	0	0.001368	0	0
FBXO39	162517	broad.mit.edu	37	17	6690203	6690203	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:6690203C>T	ENST00000321535.4	+	3	1258	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	376										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TCTGGGCTTTCCTTGATGTTA	0.483000													6	37					0	0	0.001984	0	0
FBXO18	84893	broad.mit.edu	37	10	5956154	5956154	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:5956154C>T	ENST00000379999.5	+	9	1575	c.1471C>T	c.(1471-1473)Caa>Taa	p.Q491*	FBXO18_ENST00000379994.1_Nonsense_Mutation_p.Q177*|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Nonsense_Mutation_p.Q440*	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	440					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GAAAACCATCCAACTTACACA	0.408000													5	72					0	0	0.001168	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28271853	28271853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:28271853C>T	ENST00000373894.3	+	2	363	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	SMPDL3B_ENST00000466793.1_3'UTR|RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.P58S|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.P58S	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	58					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		CGACGCAGGCCCCTGGGGTGA	0.577000													12	34					0	0	0.002450	0	0
CSNK1A1P1	161635	broad.mit.edu	37	15	37110216	37110216	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:37110216C>T	ENST00000430593.3	-	0	444					NR_027320.1																						ACTACCACTTCTTCACCGTTG	0.502000													7	30					0	0	0.001984	0	0
ZDHHC9	51114	broad.mit.edu	37	X	128975808	128975808	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:128975808G>A	ENST00000357166.6	-	3	505	c.114C>T	c.(112-114)ttC>ttT	p.F38F	ZDHHC9_ENST00000371064.3_Silent_p.F38F	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	38						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						GGGTCAGGTAGAAAATGCCCT	0.498000													12	43					0	0	0.001368	0	0
HIPK1	204851	broad.mit.edu	37	1	114499826	114499826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:114499826C>T	ENST00000369558.1	+	7	1905	c.1673C>T	c.(1672-1674)cCc>cTc	p.P558L	HIPK1_ENST00000369553.1_Missense_Mutation_p.P164L|HIPK1_ENST00000369554.2_Missense_Mutation_p.P558L|HIPK1_ENST00000369559.4_Missense_Mutation_p.P558L|HIPK1_ENST00000369555.2_Missense_Mutation_p.P558L|HIPK1_ENST00000340480.4_Missense_Mutation_p.P184L|HIPK1_ENST00000369561.4_Intron|HIPK1_ENST00000406344.1_Missense_Mutation_p.P164L|HIPK1_ENST00000426820.2_Missense_Mutation_p.P558L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCAAGAGTCCCTTCACTACA	0.388000													8	29					0	0	0.003080	0	0
PLCB1	23236	broad.mit.edu	37	20	8698442	8698442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:8698442C>T	ENST00000378641.3	+	14	1935	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F	PLCB1_ENST00000378637.2_Missense_Mutation_p.S487F|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.S487F	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	487					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GAACAAGCCTCCAACACCTAC	0.473000													6	22					0	0	0.001984	0	0
DECR2	26063	broad.mit.edu	37	16	461398	461398	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:461398C>T	ENST00000219481.5	+	8	837	c.699C>T	c.(697-699)gcC>gcT	p.A233A	DECR2_ENST00000424398.2_Silent_p.A221A|DECR2_ENST00000461947.1_Intron	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	233						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				AGGTCACTGCCAGCCCGCTGC	0.692000													5	50					0	0	0.001168	0	0
SEMA4F	10505	broad.mit.edu	37	2	74883760	74883760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:74883760G>A	ENST00000357877.2	+	2	394	c.245G>A	c.(244-246)cGg>cAg	p.R82Q	SEMA4F_ENST00000339773.5_Missense_Mutation_p.R82Q	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	82	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GTTGGCGCCCGGGACACCATC	0.562000													5	57					0	0	0.000602	0	0
CYP2B6	1555	broad.mit.edu	37	19	41510263	41510263	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:41510263G>A	ENST00000324071.4	+	3	403	c.396G>A	c.(394-396)atG>atA	p.M132I	CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Missense_Mutation_p.M92I|CYP2B6_ENST00000593831.1_Missense_Mutation_p.M56I	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	132					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TGACCACTATGAGGGACTTCG	0.562000													9	17					0	0	0.008291	0	0
CILP	8483	broad.mit.edu	37	15	65495726	65495726	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:65495726C>T	ENST00000261883.4	-	7	1168	c.1002G>A	c.(1000-1002)ggG>ggA	p.G334G		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	334	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GCCTGGGCTTCCCTGTGGCCT	0.517000													8	48					0	0	0.004482	0	0
GLP1R	2740	broad.mit.edu	37	6	39046896	39046896	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:39046896C>T	ENST00000373256.4	+	10	1006	c.963C>T	c.(961-963)ttC>ttT	p.F321F		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	321					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	AGGTGAACTTCCTCATCTTTG	0.557000													15	116					0	0	0.004007	0	0
ADCY10	55811	broad.mit.edu	37	1	167802296	167802296	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:167802296G>A	ENST00000367848.1	-	25	3743	c.3246C>T	c.(3244-3246)ctC>ctT	p.L1082L	ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Silent_p.L1174L|ADCY10_ENST00000545172.1_Silent_p.L1021L			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1174					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CATGGATATGGAGAAACAAGG	0.478000													19	241					0	0	0.006122	0	0
SEMA4F	10505	broad.mit.edu	37	2	74901796	74901796	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:74901796T>G	ENST00000357877.2	+	8	1143	c.994T>G	c.(994-996)Tcc>Gcc	p.S332A	SEMA4F_ENST00000339773.5_Missense_Mutation_p.S177A	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	332	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CATCTTTTCTTCCCAGTGGTG	0.577000													7	82					0	0	0.001984	0	0
TRIM36	55521	broad.mit.edu	37	5	114482954	114482954	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:114482954G>A	ENST00000513154.1	-	3	726	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000282369.3_Missense_Mutation_p.R146C|TRIM36_ENST00000514154.1_5'UTR			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	146						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GCTGCTTGACGATATCTTTCC	0.458000													22	81					0	0	0.002299	0	0
LAG3	3902	broad.mit.edu	37	12	6884734	6884734	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:6884734G>A	ENST00000441671.2	+	5	1411	c.1077G>A	c.(1075-1077)aaG>aaA	p.K359K	LAG3_ENST00000203629.2_Intron			P18627	LAG3_HUMAN	lymphocyte-activation gene 3	0	Ig-like C2-type 3.					integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AGGTGGGAAAGGAGTAGCTGC	0.582000													4	18					0	0	0.000248	0	0
DENND6B	414918	broad.mit.edu	37	22	50750572	50750572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:50750572G>A	ENST00000413817.2	-	20	1825	c.1754C>T	c.(1753-1755)cCc>cTc	p.P585L		NM_001001794.3	NP_001001794.3			DENN/MADD domain containing 6B																		TTTGTTCTAGGGAGGGCACAA	0.652000													6	38					0	0	0.001168	0	0
PARVG	64098	broad.mit.edu	37	22	44585031	44585031	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:44585031C>T	ENST00000422871.1	+	6	709	c.285C>T	c.(283-285)atC>atT	p.I95I	PARVG_ENST00000444313.2_Silent_p.I95I|PARVG_ENST00000415224.1_Silent_p.I95I	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	95	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CAGAGGACATCGCCCTGACAG	0.652000													9	61					0	0	0.006214	0	0
ITPR3	3710	broad.mit.edu	37	6	33641370	33641370	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:33641370C>T	ENST00000374316.5	+	24	3991	c.2931C>T	c.(2929-2931)ttC>ttT	p.F977F	ITPR3_ENST00000605930.1_Silent_p.F977F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	977					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TTCTCCAGTTCATCCTCAATG	0.557000													30	162					0	0	0.002836	0	0
ZNF77	58492	broad.mit.edu	37	19	2934073	2934073	+	Missense_Mutation	SNP	G	G	A	rs142377561		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:2934073G>A	ENST00000314531.4	-	4	1144	c.1052C>T	c.(1051-1053)cCc>cTc	p.P351L		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATTCATAGGGTTTCTCTCC	0.507000													5	45					0	0	0.001168	0	0
SLC38A4	55089	broad.mit.edu	37	12	47181749	47181749	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:47181749C>T	ENST00000447411.1	-	4	482	c.276G>A	c.(274-276)ggG>ggA	p.G92G	SLC38A4_ENST00000266579.4_Silent_p.G92G	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	92					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					AGCCCAGGATCCCACTGCCCA	0.418000													10	44					0	0	0.001855	0	0
CCDC141	285025	broad.mit.edu	37	2	179702427	179702427	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179702427C>T	ENST00000420890.2	-	23	3636	c.3519G>A	c.(3517-3519)ggG>ggA	p.G1173G	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.G598G	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	598							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GTCGCTCTTCCCCTGTTCCAT	0.483000													4	81					0	0	0.000602	0	0
WBSCR17	64409	broad.mit.edu	37	7	71036359	71036359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:71036359G>A	ENST00000333538.5	+	6	1686	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	351	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GATGTATACGGAGGAGAAAAT	0.522000													27	74					0	0	0.007291	0	0
TRPM6	140803	broad.mit.edu	37	9	77457121	77457121	+	Silent	SNP	C	C	T	rs141159434	by1000genomes	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:77457121C>T	ENST00000451710.3	-	4	528	c.291G>A	c.(289-291)acG>acA	p.T97T	TRPM6_ENST00000376872.3_Silent_p.T97T|TRPM6_ENST00000359047.2_Silent_p.T97T|TRPM6_ENST00000360774.1_Silent_p.T97T|TRPM6_ENST00000361255.3_Silent_p.T92T|TRPM6_ENST00000376871.3_Silent_p.T97T|TRPM6_ENST00000376864.4_Silent_p.T97T|TRPM6_ENST00000449912.2_Silent_p.T92T			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	97					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGAAATTAATCGTGCCAAAAG	0.398000													7	56					0	0	0.004482	0	0
ASPM	259266	broad.mit.edu	37	1	197072844	197072844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:197072844G>A	ENST00000367409.4	-	18	5793	c.5537C>T	c.(5536-5538)tCt>tTt	p.S1846F	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1846	IQ 9.				mitosis	cytoplasm|nucleus	calmodulin binding	p.S1846Y(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGAAGCACAGATTGATATTT	0.348000													13	70					0	0	0.002450	0	0
C6orf25	80739	broad.mit.edu	37	6	31691464	31691464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:31691464G>A	ENST00000375809.3	+	2	121	c.110G>A	c.(109-111)gGa>gAa	p.G37E	C6orf25_ENST00000480039.1_Missense_Mutation_p.G37E|C6orf25_ENST00000375810.4_Missense_Mutation_p.G37E|C6orf25_ENST00000375805.2_Missense_Mutation_p.G37E	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	37						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TCCTGCGGAGGAGTCTCTCAT	0.672000													7	157					0	0	0.004482	0	0
CREB3L2	64764	broad.mit.edu	37	7	137567335	137567335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:137567335G>A	ENST00000330387.6	-	11	1661	c.1310C>T	c.(1309-1311)cCc>cTc	p.P437L		NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	437					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CTCCTCTGGGGGAGAATGTTC	0.582000			T	FUS	fibromyxoid sarcoma								6	27					0	0	0.003080	0	0
EVPL	2125	broad.mit.edu	37	17	74005812	74005812	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:74005812G>A	ENST00000301607.3	-	22	3727	c.3474C>T	c.(3472-3474)ctC>ctT	p.L1158L	EVPL_ENST00000586740.1_Silent_p.L1180L	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1158	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCTCCTCGAGGAGGCTCCTCA	0.632000													4	30					0	0	0.000602	0	0
BGN	633	broad.mit.edu	37	X	152772344	152772344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:152772344G>A	ENST00000331595.4	+	6	919	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_Missense_Mutation_p.E184K	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	245						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGCCATCGAACTGGAGGA	0.602000													13	37					0	0	0.003163	0	0
FBXL14	144699	broad.mit.edu	37	12	1675932	1675932	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:1675932C>T	ENST00000339235.3	-	2	1337	c.1239G>A	c.(1237-1239)cgG>cgA	p.R413R		NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	413						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			tggagcttccccgagttctca	0.537000													5	67					0	0	0.001168	0	0
SYNGR1	9145	broad.mit.edu	37	22	39770347	39770347	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:39770347C>T	ENST00000328933.5	+	2	141	c.126C>T	c.(124-126)tcC>tcT	p.S42S	SYNGR1_ENST00000381535.4_Silent_p.S43S|SYNGR1_ENST00000318801.4_Silent_p.S42S|SYNGR1_ENST00000216155.7_Silent_p.S42S|SYNGR1_ENST00000406293.3_Silent_p.S42S	NM_004711.4	NP_004702.2			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					TGTTCGGCTCCATCGTGAACG	0.657000													8	38					0	0	0.004482	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332666	22332666	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:22332666C>T	ENST00000558896.1	+	0	473																											TAGGGGATTTCCTACAGCAGG	0.443000													5	69					0	0	0.000602	0	0
SLC9A9	285195	broad.mit.edu	37	3	143550880	143550880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:143550880C>T	ENST00000316549.6	-	2	567	c.359G>A	c.(358-360)gGa>gAa	p.G120E		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	120					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TATAGCATTTCCTTGATGAGG	0.294000													6	39					0	0	0.001168	0	0
KIF26B	55083	broad.mit.edu	37	1	245766051	245766051	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:245766051C>T	ENST00000366518.4	+	3	484	c.380C>T	c.(379-381)gCc>gTc	p.A127V	KIF26B_ENST00000407071.2_Missense_Mutation_p.A508V			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	508					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AAGATGTTTGCCTTCGATGCA	0.502000													18	75					0	0	0.001882	0	0
CASP10	843	broad.mit.edu	37	2	202093740	202093740	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:202093740C>T	ENST00000272879.5	+	10	1684	c.1500C>T	c.(1498-1500)tcC>tcT	p.S500S	CASP10_ENST00000448480.1_Silent_p.S457S	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	500					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CAGCAACCTCCCTGCCCACGG	0.542000													13	59					0	0	0.002450	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519087	113519087	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:113519087C>T	ENST00000284601.3	-	4	2128	c.2060G>A	c.(2059-2061)gGa>gAa	p.G687E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	687					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATCTCTTTTTCCCCACACGTC	0.398000													20	240					0	0	0.001882	0	0
LZTR1	8216	broad.mit.edu	37	22	21340177	21340177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:21340177C>T	ENST00000215739.8	+	3	670	c.311C>T	c.(310-312)tCc>tTc	p.S104F	LZTR1_ENST00000389355.3_Intron|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	104					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AAAGACTGCTCCTGGTGCAGG	0.582000													12	23					0	0	0.003163	0	0
POTEG	404785	broad.mit.edu	37	14	19553804	19553804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:19553804G>A	ENST00000409832.3	+	1	440	c.388G>A	c.(388-390)Gag>Aag	p.E130K		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	130								p.E130*(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CGCTTTCATGGAGCCGAGGTA	0.592000													18	162					0	0	0.004656	0	0
LMOD2	442721	broad.mit.edu	37	7	123302705	123302705	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:123302705G>A	ENST00000458573.2	+	2	1222	c.1065G>A	c.(1063-1065)caG>caA	p.Q355Q	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	355						cytoskeleton	actin binding|tropomyosin binding										TGGATAAACAGAGGCAAAAAC	0.473000													9	84					0	0	0.008291	0	0
SYNE1	23345	broad.mit.edu	37	6	152652268	152652268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:152652268G>A	ENST00000367255.5	-	78	14153	c.13552C>T	c.(13552-13554)Cgc>Tgc	p.R4518C	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.R4518C|SYNE1_ENST00000423061.1_Missense_Mutation_p.R4447C|SYNE1_ENST00000448038.1_Missense_Mutation_p.R4447C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4518					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTAGTTCGCGACCCTGGGCC	0.458000										HNSCC(10;0.0054)			8	54					0	0	0.003080	0	0
PLK4	10733	broad.mit.edu	37	4	128814691	128814691	+	Silent	SNP	G	G	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:128814691G>C	ENST00000270861.5	+	12	2620	c.2346G>C	c.(2344-2346)ctG>ctC	p.L782L	PLK4_ENST00000513090.1_Silent_p.L750L|PLK4_ENST00000514379.1_Silent_p.L741L|PLK4_ENST00000515069.1_Silent_p.L704L|PLK4_ENST00000507249.1_Silent_p.L721L	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	782					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GTTTAGCACTGGAATCCATAA	0.338000													4	51					0	0	0.001168	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41442339	41442339	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:41442339G>A	ENST00000599198.1	+	0	431					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						GTGCTTCGGCGATTCTCTGTG	0.547000													5	13					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179474925	179474925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179474925C>T	ENST00000589042.1	-	271	51552	c.51328G>A	c.(51328-51330)Gat>Aat	p.D17110N	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D8045N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D14542N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D8237N|TTN_ENST00000359218.5_Missense_Mutation_p.D8170N|TTN_ENST00000591111.1_Missense_Mutation_p.D15469N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15469	Ig-like 102.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTATGAGATCCTTCACAGTC	0.423000													12	140					0	0	0.000978	0	0
SV2B	9899	broad.mit.edu	37	15	91769537	91769537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:91769537C>T	ENST00000394232.1	+	2	514	c.44C>T	c.(43-45)cCc>cTc	p.P15L	SV2B_ENST00000330276.4_Missense_Mutation_p.P15L|SV2B_ENST00000545111.2_Intron|SV2B_ENST00000557291.1_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	15					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGCTATGCTCCCAGTGATGGC	0.517000													36	265					0	0	0.005524	0	0
SUSD4	55061	broad.mit.edu	37	1	223465899	223465899	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:223465899G>A	ENST00000343846.3	-	2	876	c.243C>T	c.(241-243)gcC>gcT	p.A81A	SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000344029.6_Silent_p.A81A|SUSD4_ENST00000366878.4_Silent_p.A81A			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	81	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGTGAAATCGGGCTACAGAGC	0.507000													31	61					0	0	0.002096	0	0
DPCR1	135656	broad.mit.edu	37	6	30920802	30920802	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:30920802G>A	ENST00000462446.1	+	3	4118	c.4090G>A	c.(4090-4092)Gat>Aat	p.D1364N	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.D206N			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	488						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CCAGTACAATGATGCAGAGGA	0.537000													5	24					0	0	0.000602	0	0
MME	4311	broad.mit.edu	37	3	154834733	154834733	+	Silent	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:154834733T>C	ENST00000460393.1	+	7	732	c.612T>C	c.(610-612)ttT>ttC	p.F204F	MME_ENST00000493237.1_Silent_p.F204F|MME_ENST00000360490.2_Silent_p.F204F|MME_ENST00000462745.1_Silent_p.F204F|MME_ENST00000492661.1_Silent_p.F204F	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	204					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTAATTTGTTTGTTGGCACTG	0.289000													7	30					0	0	0.001984	0	0
MS4A5	64232	broad.mit.edu	37	11	60198378	60198378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:60198378C>T	ENST00000300190.2	+	2	349	c.263C>T	c.(262-264)cCa>cTa	p.P88L	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	88						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TCAGGATATCCATTCTGGGGC	0.363000													12	52					0	0	0.002450	0	0
DNAH3	55567	broad.mit.edu	37	16	20999290	20999290	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:20999290C>T	ENST00000261383.3	-	45	6698	c.6699G>A	c.(6697-6699)ggG>ggA	p.G2233G	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2233	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAAACCCTTTCCCGAAGTGCC	0.453000													8	35					0	0	0.004482	0	0
NLRP13	126204	broad.mit.edu	37	19	56410206	56410206	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:56410206C>T	ENST00000588751.1	-	10	2911	c.2887G>A	c.(2887-2889)Gat>Aat	p.D963N	NLRP13_ENST00000342929.3_Missense_Mutation_p.D963N			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	963							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCCTGAAGATCATTTTCTCCC	0.463000													24	54					0	0	0.002780	0	0
OR51S1	119692	broad.mit.edu	37	11	4870000	4870000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:4870000C>T	ENST00000322101.2	-	1	514	c.439G>A	c.(439-441)Ggt>Agt	p.G147S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTAATTACACCATTGGTGAGG	0.552000													15	69					0	0	0.002450	0	0
CCDC93	54520	broad.mit.edu	37	2	118766131	118766131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:118766131G>A	ENST00000376300.2	-	2	283	c.146C>T	c.(145-147)cCc>cTc	p.P49L	CCDC93_ENST00000319432.5_Missense_Mutation_p.P49L|AC009303.1_ENST00000590516.1_RNA|AC009303.1_ENST00000588042.1_RNA	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	49										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTTGTCAAAGGGTGATAAGCC	0.378000													9	63					0	0	0.008291	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144077039	144077039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:144077039C>T	ENST00000056217.5	+	15	4858	c.4684C>T	c.(4684-4686)Cct>Tct	p.P1562S	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.P484S	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1562	SH3.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGGCTGGTTTCCTGTGCAGCA	0.572000													12	116					0	0	0.002450	0	0
LMX1A	4009	broad.mit.edu	37	1	165173169	165173169	+	Missense_Mutation	SNP	C	C	T	rs145918505		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:165173169C>T	ENST00000342310.3	-	9	1479	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_Missense_Mutation_p.G366E|LMX1A_ENST00000294816.2_Missense_Mutation_p.G366E	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	366						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					AATGGGGTTTCCCACTCTGGA	0.502000													6	71					0	0	0.001984	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45702582	45702582	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:45702582C>G	ENST00000305560.6	+	3	1387	c.1288C>G	c.(1288-1290)Cct>Gct	p.P430A	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.P430A	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	430						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CCAGGACAATCCTGTGATTGA	0.333000													6	41					0	0	0.001168	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401457	77401457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:77401457G>A	ENST00000282849.5	-	4	1077	c.659C>T	c.(658-660)tCt>tTt	p.S220F	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	220					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATTCCGGCCAGAGCCGGGGTA	0.532000													6	36					0	0	0.001168	0	0
OR11H6	122748	broad.mit.edu	37	14	20691973	20691973	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:20691973C>T	ENST00000315519.2	+	1	183	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TCCTGGGTTTCCATGGTCAAA	0.428000													34	114					0	0	0.006230	0	0
JUP	3728	broad.mit.edu	37	17	39777961	39777961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:39777961C>T	ENST00000540235.1	-	7	1194	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	KRT17_ENST00000311208.8_Missense_Mutation_p.E240K			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCGTCCATCTCCACATTGATC	0.577000													9	32					0	0	0.000978	0	0
RRP9	9136	broad.mit.edu	37	3	51968490	51968490	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:51968490G>A	ENST00000232888.6	-	13	1331	c.1258C>T	c.(1258-1260)Ctg>Ttg	p.L420L		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	420					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		TCACTCACCAGGGGGATGTCA	0.582000													3	14					0	0	0.000602	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40282489	40282489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:40282489G>A	ENST00000263791.5	+	16	2585	c.2542G>A	c.(2542-2544)Gat>Aat	p.D848N	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.D820N	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	848	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GATTCACCGGGATTTGAAGCC	0.378000													8	138					0	0	0.006214	0	0
PKNOX1	5316	broad.mit.edu	37	21	44441540	44441540	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:44441540G>A	ENST00000291547.5	+	8	1059	c.849_splice	c.e8+1	p.G283_splice	PKNOX1_ENST00000432907.2_Splice_Site_p.G166_splice	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	283							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CAGCACATCGGGGTAAGGACG	0.552000													9	47					0	0	0.001368	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858331	9858331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:9858331C>T	ENST00000396573.2	-	14	3379	c.3070G>A	c.(3070-3072)Gat>Aat	p.D1024N	GRIN2A_ENST00000562109.1_Missense_Mutation_p.D1024N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1024N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1024N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D1024N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D867N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1024					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GATAGTGAATCCTGGCGTATG	0.542000													12	112					0	0	0.000978	0	0
OR3A1	4994	broad.mit.edu	37	17	3195080	3195080	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:3195080C>T	ENST00000323404.1	-	1	796	c.797G>A	c.(796-798)gGt>gAt	p.G266D	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G266V(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						CTTGGTTGAACCCAGTCGCAT	0.448000													7	65					0	0	0.001984	0	0
SNHG14	104472715	broad.mit.edu	37	15	25328811	25328811	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:25328811C>T	ENST00000546682.1	+	0	320				SNHG14_ENST00000549804.2_RNA|SNORD116-17_ENST00000383929.1_RNA	NR_003361.1																						CCGTCATCCTCGTCGAACTGA	0.443000													12	82					0	0	0.004007	0	0
TSPAN2	10100	broad.mit.edu	37	1	115600175	115600175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:115600175C>T	ENST00000369516.2	-	6	530	c.499G>A	c.(499-501)Gag>Aag	p.E167K	TSPAN2_ENST00000369514.2_Missense_Mutation_p.E167K|TSPAN2_ENST00000491992.1_5'UTR|TSPAN2_ENST00000369515.2_Missense_Mutation_p.E142K	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	167						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CCTAGAAGCTCCTTTGGGCAT	0.483000													15	211					0	0	0.004007	0	0
TCL6	27004	broad.mit.edu	37	14	96134556	96134556	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:96134556G>A	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		TGGCTCGGACGAAGTGTTTCC	0.473000			T	TRA@	T-ALL								14	68					0	0	0.004007	0	0
NCK2	8440	broad.mit.edu	37	2	106498441	106498441	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:106498441C>T	ENST00000233154.4	+	4	1326	c.884C>T	c.(883-885)gCc>gTc	p.A295V	NCK2_ENST00000522586.1_Intron|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.A295V	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	295	SH2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						CGGCACCAGGCCGAGTGCGCC	0.687000													4	19					0	0	0.000248	0	0
MGAM	8972	broad.mit.edu	37	7	141762404	141762404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:141762404C>T	ENST00000475668.2	+	35	4213	c.4159C>T	c.(4159-4161)Cgt>Tgt	p.R1387C	MGAM_ENST00000549489.2_Missense_Mutation_p.R1387C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1387	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACTTTTTCCGTAATTCAAC	0.388000													5	10					0	0	0.001168	0	0
CPXM2	119587	broad.mit.edu	37	10	125539747	125539747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:125539747C>T	ENST00000241305.3	-	7	1068	c.914G>A	c.(913-915)cGg>cAg	p.R305Q	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	305					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.R305L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CATCTCGTTCCGGCGGTGATA	0.443000													21	86					0	0	0.002299	0	0
FAM134A	79137	broad.mit.edu	37	2	220043652	220043652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:220043652C>T	ENST00000430297.2	+	2	426	c.290C>T	c.(289-291)tCt>tTt	p.S97F		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	97	Poly-Ser.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTTGCTGTCTTCCTCGTCC	0.552000													12	121					0	0	0.001855	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37729768	37729768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:37729768C>T	ENST00000330843.4	-	4	2564	c.2552G>A	c.(2551-2553)gGa>gAa	p.G851E	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	851					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGGAGGCTCTCCGTCAGACGC	0.637000													5	33					0	0	0.001168	0	0
KDM5A	5927	broad.mit.edu	37	12	432786	432786	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:432786G>A	ENST00000399788.2	-	15	2492	c.2130C>T	c.(2128-2130)ccC>ccT	p.P710P	KDM5A_ENST00000382815.4_Silent_p.P710P	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	710					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCTTCTGCATGGGGCAGGGGC	0.388000			T	NUP98	AML								15	73					0	0	0.008871	0	0
GNB5	10681	broad.mit.edu	37	15	52442020	52442020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:52442020G>A	ENST00000560116.1	-	3	372	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F	GNB5_ENST00000261837.7_Intron|GNB5_ENST00000396335.4_Intron|GNB5_ENST00000358784.7_Intron			O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	0						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		CTGGACCAGAGCACCTTTAAG	0.532000													4	18					0	0	0.000248	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157208	26157208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:26157208G>A	ENST00000325250.1	+	2	293	c.106G>A	c.(106-108)Gag>Aag	p.E36K		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	36							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GGCAGAAGGAGAGTCACCCTC	0.577000													6	10					0	0	0.001984	0	0
COL5A3	50509	broad.mit.edu	37	19	10114307	10114307	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:10114307C>T	ENST00000264828.3	-	6	868	c.783G>A	c.(781-783)ggG>ggA	p.G261G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	261	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCCTGCCCTTCCCCTTGCGAC	0.577000													5	40					0	0	0.001168	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													6	31					0	0	0.001984	0	0
UNC119B	84747	broad.mit.edu	37	12	121154822	121154822	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:121154822T>G	ENST00000344651.4	+	4	660	c.620T>G	c.(619-621)tTt>tGt	p.F207C		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	207										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATCTATGAGTTTCCCCAGCTT	0.463000													47	364					0	0	0.003610	0	0
ZNF385A	25946	broad.mit.edu	37	12	54764812	54764812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:54764812C>T	ENST00000546970.1	-	7	962	c.673G>A	c.(673-675)Ggg>Agg	p.G225R	ZNF385A_ENST00000394313.2_Missense_Mutation_p.G225R|ZNF385A_ENST00000551771.1_Missense_Mutation_p.G144R|ZNF385A_ENST00000551109.1_Missense_Mutation_p.G225R|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000352268.6_Missense_Mutation_p.G164R|ZNF385A_ENST00000552382.1_5'UTR|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000338010.5_Missense_Mutation_p.G245R			Q96PM9	Z385A_HUMAN	zinc finger protein 385A	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						GTGGGAGGCCCCAGCCGAGGG	0.597000													7	98					0	0	0.001984	0	0
FAT4	79633	broad.mit.edu	37	4	126336808	126336808	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:126336808G>A	ENST00000394329.3	+	5	6703	c.6690G>A	c.(6688-6690)caG>caA	p.Q2230Q	FAT4_ENST00000335110.5_Silent_p.Q528Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2230	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAACTGTTCAGGCAACAGATC	0.443000													5	74					0	0	0.001984	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382511	56382511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:56382511C>T	ENST00000355701.3	-	30	6325	c.5455G>A	c.(5455-5457)Ggc>Agc	p.G1819S	BZRAP1_ENST00000343736.4_Missense_Mutation_p.G1819S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1759S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1819	SH3 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGAACCAGGCCCCTTTGTCCA	0.622000													4	34					0	0	0.000602	0	0
ITLN1	55600	broad.mit.edu	37	1	160846564	160846564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:160846564G>A	ENST00000326245.3	-	8	947	c.832C>T	c.(832-834)Cag>Tag	p.Q278*		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	278					positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCACACTGCTGGGGACTGGCC	0.498000													5	78					0	0	0.001984	0	0
KIDINS220	57498	broad.mit.edu	37	2	8872048	8872048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:8872048G>A	ENST00000256707.3	-	30	4299	c.4118C>T	c.(4117-4119)tCa>tTa	p.S1373L	KIDINS220_ENST00000473731.1_Missense_Mutation_p.S1354L|KIDINS220_ENST00000427284.1_Missense_Mutation_p.S1354L|KIDINS220_ENST00000418530.1_Missense_Mutation_p.S1274L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1373					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGTAAGCTTTGAAATTTCAAT	0.413000													6	66					0	0	0.001984	0	0
ZNF554	115196	broad.mit.edu	37	19	2832352	2832352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:2832352C>T	ENST00000317243.5	+	4	503	c.305C>T	c.(304-306)tCc>tTc	p.S102F	ZNF554_ENST00000591265.1_Missense_Mutation_p.S102F	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	102	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCCACTTTCCCCAGCACAA	0.438000													19	83					0	0	0.001882	0	0
RNASEK	440400	broad.mit.edu	37	17	6915950	6915950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:6915950C>T	ENST00000548577.1	+	1	215	c.65C>T	c.(64-66)tCc>tTc	p.S22F	RNASEK_ENST00000402093.1_5'UTR|AC040977.1_ENST00000593646.1_Missense_Mutation_p.G167E|RP11-589P10.7_ENST00000572547.1_RNA	NM_001004333.4	NP_001004333.2	Q6P5S7	RNK_HUMAN	ribonuclease, RNase K	0					rRNA transcription	integral to membrane	endoribonuclease activity			lung(1)	1						TGGGCTTTCTCCCACCGCTTT	0.701000													7	11					0	0	0.001984	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554534	140554534	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140554534C>T	ENST00000231137.3	+	1	2292	c.2118C>T	c.(2116-2118)ttC>ttT	p.F706F		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		706					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F706F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGTTCGTGGCGGTGC	0.692000													18	214					0	0	0.001882	0	0
GNAQ	2776	broad.mit.edu	37	9	80430643	80430643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:80430643G>A	ENST00000286548.4	-	3	587	c.365C>T	c.(364-366)tCt>tTt	p.S122F	GNAQ_ENST00000397476.3_5'UTR	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	122					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCAAAAGCAGACACCTTCTC	0.353000			Mis		uveal melanoma								6	35					0	0	0.001984	0	0
UBR4	23352	broad.mit.edu	37	1	19430687	19430687	+	Silent	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:19430687A>G	ENST00000375267.2	-	87	12795	c.12792T>C	c.(12790-12792)ggT>ggC	p.G4264G	UBR4_ENST00000375224.1_5'UTR|UBR4_ENST00000375254.3_Silent_p.G4264G|UBR4_ENST00000375226.2_Silent_p.G4240G|UBR4_ENST00000375217.2_Silent_p.G4257G			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4264					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCAGCACAGTACCCACCAAGC	0.512000													11	55					0	0	0.001368	0	0
RBM47	54502	broad.mit.edu	37	4	40428109	40428109	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:40428109G>A	ENST00000319592.4	-	6	2096	c.1387C>T	c.(1387-1389)Cct>Tct	p.P463S	RBM47_ENST00000381795.6_Missense_Mutation_p.P463S|RBM47_ENST00000514014.1_Missense_Mutation_p.P494S|RBM47_ENST00000381793.2_Missense_Mutation_p.P532S|RBM47_ENST00000295971.7_Missense_Mutation_p.P532S			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	532						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCGGCAGTAGGAATTCTCTGA	0.562000													5	37					0	0	0.001168	0	0
VWA5A	4013	broad.mit.edu	37	11	124007759	124007759	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:124007759C>T	ENST00000456829.2	+	15	1914	c.1663C>T	c.(1663-1665)Cag>Tag	p.Q555*	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Nonsense_Mutation_p.Q555*	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	555										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GTCCTTGCTCCAGACCAAGGA	0.453000													8	44					0	0	0.006214	0	0
FLT1	2321	broad.mit.edu	37	13	29001962	29001962	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:29001962C>T	ENST00000282397.4	-	9	1454	c.1203G>A	c.(1201-1203)ggG>ggA	p.G401G	FLT1_ENST00000539099.1_Silent_p.G401G|FLT1_ENST00000541932.1_Silent_p.G401G	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	401	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTGTATAATTCCCTGCATCCT	0.393000													11	41					0	0	0.000978	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118351308	118351308	+	Silent	SNP	C	C	T	rs142908624	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:118351308C>T	ENST00000528052.1	+	3	146	c.75C>T	c.(73-75)ctC>ctT	p.L25L	PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000358834.4_Silent_p.L25L|PNLIPRP1_ENST00000534537.1_Silent_p.L25L|PNLIPRP1_ENST00000442761.1_Silent_p.L25L			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	25					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		ATGAGGACCTCGGGTGCTTTT	0.552000													7	80					0	0	0.001984	0	0
TIGD3	220359	broad.mit.edu	37	11	65124129	65124129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:65124129C>T	ENST00000309880.5	+	2	1057	c.850C>T	c.(850-852)Ctc>Ttc	p.L284F		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	284	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CCACGTGAAGCTCTTGCCTCT	0.662000													13	42					0	0	0.001855	0	0
CSMD1	64478	broad.mit.edu	37	8	3326276	3326276	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:3326276C>T	ENST00000602557.1	-	13	2077	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N	CSMD1_ENST00000602723.1_Missense_Mutation_p.D508N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D507N|CSMD1_ENST00000520002.1_Missense_Mutation_p.D508N|CSMD1_ENST00000539096.1_Missense_Mutation_p.D507N|CSMD1_ENST00000537824.1_Missense_Mutation_p.D507N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D508N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	508	CUB 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGCTATCATCCGACTGCAGA	0.463000													3	7					0	0	0.004672	0	0
PDE6A	5145	broad.mit.edu	37	5	149276290	149276290	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:149276290T>G	ENST00000255266.5	-	11	1576	c.1457A>C	c.(1456-1458)gAg>gCg	p.E486A		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	486					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTCAGCCAGCTCCTCTTCCTC	0.532000													15	107					0	0	0.004007	0	0
CPAMD8	27151	broad.mit.edu	37	19	17014415	17014415	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:17014415C>T	ENST00000443236.1	-	34	4598	c.4567G>A	c.(4567-4569)Ggg>Agg	p.G1523R		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1476						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACAAACAGCCCCGTGGGGAGG	0.627000													7	46					0	0	0.003080	0	0
TPX2	22974	broad.mit.edu	37	20	30347932	30347932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:30347932C>T	ENST00000340513.4	+	4	707	c.179C>T	c.(178-180)cCt>cTt	p.P60L	TPX2_ENST00000300403.6_Missense_Mutation_p.P60L			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	60					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GGCAAAACTCCTTTGAGAAAG	0.418000													22	51					0	0	0.002299	0	0
CDH7	1005	broad.mit.edu	37	18	63477230	63477230	+	Silent	SNP	C	C	T	rs140800301		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:63477230C>T	ENST00000536984.2	+	3	1195	c.501C>T	c.(499-501)ccC>ccT	p.P167P	CDH7_ENST00000323011.3_Silent_p.P167P|CDH7_ENST00000397968.2_Silent_p.P167P			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	167	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AAATGTCTCCCGTGGGTAAGT	0.393000													6	101					0	0	0.001168	0	0
AKR7A3	22977	broad.mit.edu	37	1	19611564	19611564	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:19611564G>A	ENST00000361640.4	-	4	1092	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	184					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGGCAGGGGAAGAGCTCCG	0.582000													7	61					0	0	0.004482	0	0
CCDC178	374864	broad.mit.edu	37	18	30672850	30672850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:30672850C>T	ENST00000383096.3	-	21	2445	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K	CCDC178_ENST00000583930.1_Missense_Mutation_p.E755K|CCDC178_ENST00000406524.2_Missense_Mutation_p.E755K|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.E755K|CCDC178_ENST00000403303.1_Missense_Mutation_p.E755K|CCDC178_ENST00000402325.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.E717K|CCDC178_ENST00000581852.1_Intron					coiled-coil domain containing 178																		CGCAGATTTTCTTCAAGTGAA	0.259000													4	35					0	0	0.000248	0	0
C6orf118	168090	broad.mit.edu	37	6	165715342	165715342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:165715342C>T	ENST00000543069.1	-	2	738	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	C6orf118_ENST00000230301.8_Missense_Mutation_p.E157K			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	157										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TTCTTTTCTTCCTTCCCCTCT	0.612000													20	36					0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179528012	179528012	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179528012C>T	ENST00000589042.1	-	173	36905	c.36681G>A	c.(36679-36681)ccG>ccA	p.P12227P	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10375							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGGACTTTCCGGTTTGGGAG	0.373000													4	28					0	0	0.001168	0	0
AGBL1	123624	broad.mit.edu	37	15	86822964	86822964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:86822964G>A	ENST00000441037.2	+	15	2127	c.2032G>A	c.(2032-2034)Gat>Aat	p.D678N	AGBL1_ENST00000421325.2_Missense_Mutation_p.D678N|AGBL1_ENST00000389298.3_Missense_Mutation_p.D409N	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	678					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ACACAGTGAGGATGTCTGCTA	0.507000													16	180					0	0	0.006122	0	0
ITIH2	3698	broad.mit.edu	37	10	7762837	7762837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:7762837G>A	ENST00000358415.4	+	7	815	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	ITIH2_ENST00000379587.4_Missense_Mutation_p.E206K|ITIH2_ENST00000480387.1_3'UTR	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	217					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTGGGTTATCGAACCACAGGG	0.393000													11	87					0	0	0.001855	0	0
KRTAP12-4	386684	broad.mit.edu	37	21	46074299	46074299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:46074299G>A	ENST00000391618.1	-	1	277	c.233C>T	c.(232-234)cCt>cTt	p.P78L	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	78	15 X 5 AA approximate repeats.					keratin filament				lung(4)|ovary(1)|prostate(1)	6						ACACAAAACAGGCTTGCAGCT	0.652000													4	30					0	0	0.000248	0	0
MYH4	4622	broad.mit.edu	37	17	10348210	10348210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10348210C>T	ENST00000255381.2	-	38	5583	c.5473G>A	c.(5473-5475)Gag>Aag	p.E1825K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1825					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTTCAAGCTCTCTCACCTGG	0.483000													7	77					0	0	0.001984	0	0
TRPM8	79054	broad.mit.edu	37	2	234839313	234839313	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:234839313G>A	ENST00000324695.4	+	3	158	c.117_splice	c.e3-1	p.D40_splice	TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000409625.1_5'UTR|TRPM8_ENST00000355722.4_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	40						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTCTCCAAAGGACTTGGTGAA	0.348000													4	41					0	0	0.000602	0	0
HCN1	348980	broad.mit.edu	37	5	45645578	45645578	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:45645578G>A	ENST00000303230.4	-	2	615	c.558C>T	c.(556-558)ttC>ttT	p.F186F		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	186						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGTCCAATAGGAAAACTGTAT	0.368000													17	54					0	0	0.007413	0	0
KCNK10	54207	broad.mit.edu	37	14	88651909	88651909	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:88651909C>T	ENST00000340700.5	-	7	2038	c.1587G>A	c.(1585-1587)gaG>gaA	p.E529E	KCNK10_ENST00000319231.5_Silent_p.E534E|KCNK10_ENST00000312350.5_Silent_p.E534E	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	529				E -> G (in Ref. 2; AAL95705/AAL95706).	signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						ATGAGTTGTTCTCCGGCTCCC	0.483000													4	65					0	0	0.000602	0	0
UBR4	23352	broad.mit.edu	37	1	19442124	19442124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:19442124G>A	ENST00000375267.2	-	74	10834	c.10831C>T	c.(10831-10833)Cgc>Tgc	p.R3611C	UBR4_ENST00000375254.3_Missense_Mutation_p.R3611C|UBR4_ENST00000375226.2_Missense_Mutation_p.R3587C|UBR4_ENST00000375217.2_Missense_Mutation_p.R3604C|UBR4_ENST00000375218.3_Missense_Mutation_p.R26C			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3611					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.R3611C(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTGTGCCAGCGAGCTGGCCTA	0.483000													19	95					0	0	0.001523	0	0
ERBB4	2066	broad.mit.edu	37	2	212488669	212488669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:212488669C>T	ENST00000342788.4	-	18	2490	c.2180G>A	c.(2179-2181)gGt>gAt	p.G727D	ERBB4_ENST00000436443.1_Missense_Mutation_p.G727D|ERBB4_ENST00000402597.1_Missense_Mutation_p.G717D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	727	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TCCAAAAGCACCTGAGCCAAG	0.373000										TSP Lung(8;0.080)			5	41					0	0	0.001168	0	0
CASR	846	broad.mit.edu	37	3	122002643	122002643	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:122002643C>T	ENST00000498619.1	+	7	2310	c.1872C>T	c.(1870-1872)atC>atT	p.I624I	CASR_ENST00000490131.1_Silent_p.I614I|CASR_ENST00000296154.5_Silent_p.I614I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	614					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.I614I(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCTTTGGGATCGCACTCACCC	0.537000													8	49					0	0	0.006214	0	0
USP17L2	377630	broad.mit.edu	37	8	11994871	11994871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:11994871G>A	ENST00000333796.3	-	1	1715	c.1399C>T	c.(1399-1401)Cat>Tat	p.H467Y	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	467					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TTCGATTGATGAATCACAAGT	0.478000													12	68					0	0	0.000978	0	0
CD1E	913	broad.mit.edu	37	1	158324390	158324390	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158324390G>A	ENST00000368160.3	+	2	282	c.282G>A	c.(280-282)caG>caA	p.Q94Q	CD1E_ENST00000368156.1_Silent_p.Q94Q|CD1E_ENST00000368163.3_Silent_p.Q94Q|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368167.3_Silent_p.Q94Q|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368161.3_Silent_p.Q94Q|CD1E_ENST00000368165.3_Silent_p.Q94Q|CD1E_ENST00000434258.1_Silent_p.Q92Q|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368155.3_Silent_p.Q94Q|CD1E_ENST00000368164.3_Intron	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	94					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AAAACTTACAGTCACTGTTCC	0.458000													8	22					0	0	0.003080	0	0
CWH43	80157	broad.mit.edu	37	4	48994092	48994092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:48994092G>A	ENST00000226432.4	+	4	679	c.496G>A	c.(496-498)Gat>Aat	p.D166N	CWH43_ENST00000513409.1_Missense_Mutation_p.D139N	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	166					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AGCCACACTTGATCGTATTGG	0.373000													10	29					0	0	0.008291	0	0
SLFN12	55106	broad.mit.edu	37	17	33749180	33749180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:33749180G>A	ENST00000394562.1	-	4	1391	c.868C>T	c.(868-870)Ctt>Ttt	p.L290F	SLFN12_ENST00000452764.3_Missense_Mutation_p.L290F|SLFN12_ENST00000304905.5_Missense_Mutation_p.L290F			Q8IYM2	SLN12_HUMAN	schlafen family member 12	290							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TATACTCCAAGGAATTTGCAT	0.418000													4	36					0	0	0.000602	0	0
LCP1	3936	broad.mit.edu	37	13	46717441	46717441	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:46717441C>T	ENST00000398576.2	-	15	1740	c.1352G>A	c.(1351-1353)gGa>gAa	p.G451E	LCP1_ENST00000323076.2_Missense_Mutation_p.G451E			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	451	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CATATTGCCTCCCAGTTTGGG	0.438000			T	BCL6	NHL								6	46					0	0	0.006214	0	0
MYO18B	84700	broad.mit.edu	37	22	26423114	26423114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:26423114G>A	ENST00000335473.7	+	43	7424	c.7174G>A	c.(7174-7176)Gac>Aac	p.D2392N	MYO18B_ENST00000407587.2_Missense_Mutation_p.D2393N|MYO18B_ENST00000536101.1_Missense_Mutation_p.D2392N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2392						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTCCTCTGTGGACGATGCGGG	0.597000													9	78					0	0	0.004482	0	0
FOXL1	2300	broad.mit.edu	37	16	86613328	86613328	+	Silent	SNP	C	C	T	rs138392858	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:86613328C>T	ENST00000320241.3	+	1	1214	c.999C>T	c.(997-999)ttC>ttT	p.F333F		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	333					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						TCTCTTATTTCCCCCTGCAGG	0.607000													5	26					0	0	0.001168	0	0
DMRT1	1761	broad.mit.edu	37	9	847141	847141	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:847141C>T	ENST00000382276.3	+	2	685	c.536C>T	c.(535-537)tCa>tTa	p.S179L	DMRT1_ENST00000569227.1_Missense_Mutation_p.S21L	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	179					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		ACTGCAGCTTCAGGTAATCTG	0.597000													4	17					0	0	0.000602	0	0
LPHN2	23266	broad.mit.edu	37	1	82408790	82408790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:82408790C>T	ENST00000370728.1	+	8	1180	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C	LPHN2_ENST00000394879.1_Missense_Mutation_p.R179C|LPHN2_ENST00000370713.1_Missense_Mutation_p.R179C|LPHN2_ENST00000370721.1_Missense_Mutation_p.R183C|LPHN2_ENST00000335786.5_Missense_Mutation_p.R179C|LPHN2_ENST00000370725.1_Missense_Mutation_p.R179C|LPHN2_ENST00000359929.3_Missense_Mutation_p.R179C|LPHN2_ENST00000370715.1_Missense_Mutation_p.R179C|LPHN2_ENST00000370717.2_Missense_Mutation_p.R179C|LPHN2_ENST00000319517.6_Missense_Mutation_p.R179C|LPHN2_ENST00000370730.1_Missense_Mutation_p.R179C|LPHN2_ENST00000370723.1_Missense_Mutation_p.R179C|LPHN2_ENST00000370727.1_Missense_Mutation_p.R179C|LPHN2_ENST00000271029.4_Missense_Mutation_p.R179C|LPHN2_ENST00000469377.2_Intron			O95490	LPHN2_HUMAN	latrophilin 2	179	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.R179C(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GACTCCCTATCGTACCGATAC	0.398000													13	52					0	0	0.003163	0	0
NPM2	10361	broad.mit.edu	37	8	21891733	21891733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:21891733C>T	ENST00000397940.1	+	6	1493	c.478C>T	c.(478-480)Cct>Tct	p.P160S	NPM2_ENST00000521157.1_Missense_Mutation_p.P160S|NPM2_ENST00000289820.6_Missense_Mutation_p.P160S|NPM2_ENST00000381530.5_Intron|NPM2_ENST00000518119.1_Missense_Mutation_p.P160S			Q86SE8	NPM2_HUMAN	nucleophosmin/nucleoplasmin 2	160					chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		GGAGCAAAGCCCTGTCAAACA	0.552000													8	40					0	0	0.003080	0	0
SLC52A3	113278	broad.mit.edu	37	20	744543	744543	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:744543G>A	ENST00000381944.3	-	3	913	c.672C>T	c.(670-672)ttC>ttT	p.F224F	SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000217254.7_Silent_p.F224F			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	224			F -> L (in BVVLS).		sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										ATAGGAGGAGGAAGAAGACCA	0.607000													4	20					0	0	0.000602	0	0
NRDE2	55051	broad.mit.edu	37	14	90754980	90754980	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:90754980G>A	ENST00000354366.3	-	11	2971	c.2739C>T	c.(2737-2739)ttC>ttT	p.F913F	NRDE2_ENST00000357904.3_Silent_p.F682F	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		TCAAATACTGGAAGAGCATGA	0.507000													4	34					0	0	0.001168	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033086	20033086	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:20033086G>A	ENST00000377340.2	-	2	415	c.384C>T	c.(382-384)tcC>tcT	p.S128S	CRNKL1_ENST00000377327.4_Silent_p.S116S|CRNKL1_ENST00000536226.1_5'UTR	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	128					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AAAACAAACAGGATCTCGGAA	0.582000													7	45					0	0	0.004482	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382513	56382513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:56382513C>T	ENST00000355701.3	-	30	6323	c.5453G>A	c.(5452-5454)aGg>aAg	p.R1818K	BZRAP1_ENST00000343736.4_Missense_Mutation_p.R1818K|BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1758K	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1818	SH3 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACCAGGCCCCTTTGTCCATT	0.622000													4	31					0	0	0.000602	0	0
SEC31A	22872	broad.mit.edu	37	4	83748524	83748524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:83748524G>A	ENST00000432794.1	-	25	3491	c.3328C>T	c.(3328-3330)Cag>Tag	p.Q1110*	SEC31A_ENST00000311785.7_Nonsense_Mutation_p.Q983*|SEC31A_ENST00000355196.2_Nonsense_Mutation_p.Q1097*|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.Q1058*|SEC31A_ENST00000395310.2_Nonsense_Mutation_p.Q1097*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.Q944*|SEC31A_ENST00000500777.2_Nonsense_Mutation_p.Q944*|SEC31A_ENST00000443462.2_Nonsense_Mutation_p.Q1077*|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.Q1128*|SEC31A_ENST00000348405.4_Nonsense_Mutation_p.Q1058*|SEC31A_ENST00000264405.5_Nonsense_Mutation_p.Q846*|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.Q1043*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.Q983*|SEC31A_ENST00000448323.1_Nonsense_Mutation_p.Q1097*|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.Q1082*			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1097	Interaction with PDCD6.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ACTGTTACCTGGAAGGTATTT	0.398000													27	134					0	0	0.003271	0	0
PPAP2C	8612	broad.mit.edu	37	19	288023	288023	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:288023G>A	ENST00000269812.3	-	2	250	c.201C>T	c.(199-201)atC>atT	p.I67I	PPAP2C_ENST00000327790.3_Silent_p.I88I|PPAP2C_ENST00000434325.2_Silent_p.I11I	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	67					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTTACAAGGATGACGGTGG	0.647000													5	58					0	0	0.001984	0	0
NOS1	4842	broad.mit.edu	37	12	117660597	117660597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:117660597C>T	ENST00000317775.6	-	26	4583	c.3898G>A	c.(3898-3900)Gag>Aag	p.E1300K	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.E1334K	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1300					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGCAGGGTCTCTTCCCTGTAG	0.582000													10	78					0	0	0.008291	0	0
ZNF610	162963	broad.mit.edu	37	19	52857608	52857608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:52857608G>A	ENST00000403906.3	+	5	751	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	ZNF610_ENST00000601151.1_Intron|ZNF610_ENST00000321287.8_Missense_Mutation_p.E99K|ZNF610_ENST00000327920.8_Missense_Mutation_p.E99K	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGATGGAAGGGAATGTGTCAG	0.408000													5	17					0	0	0.001168	0	0
MAST2	23139	broad.mit.edu	37	1	46290166	46290166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:46290166C>T	ENST00000361297.2	+	2	522	c.239C>T	c.(238-240)tCa>tTa	p.S80L	MAST2_ENST00000372009.2_Missense_Mutation_p.S80L	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	80					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GACATATTTTCATCCACTGGA	0.388000													16	70					0	0	0.004990	0	0
DLEC1	9940	broad.mit.edu	37	3	38139081	38139081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:38139081G>A	ENST00000308059.6	+	17	2539	c.2518G>A	c.(2518-2520)Gaa>Aaa	p.E840K	DLEC1_ENST00000346219.3_Missense_Mutation_p.E840K|DLEC1_ENST00000452631.2_Missense_Mutation_p.E840K			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	840					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTGTGAAATCGAAGACTCGCC	0.587000													5	36					0	0	0.001168	0	0
OBSCN	84033	broad.mit.edu	37	1	228444558	228444558	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:228444558C>T	ENST00000570156.2	+	16	4866	c.4792C>T	c.(4792-4794)Cag>Tag	p.Q1598*	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.Q1506*|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.Q70*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.Q1506*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	579	Ig-like 16.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCAGGCGGGCCAGGCGGTCGC	0.647000													5	37					0	0	0.000602	0	0
IQCH	64799	broad.mit.edu	37	15	67713790	67713790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:67713790G>A	ENST00000335894.4	+	16	2446	c.2380G>A	c.(2380-2382)Gtg>Atg	p.V794M	IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000358767.3_Missense_Mutation_p.V530M|IQCH_ENST00000546225.1_Missense_Mutation_p.V451M|IQCH_ENST00000360277.4_Missense_Mutation_p.V455M	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	794										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TCAGACCTCAGTGGATCCCCA	0.493000													6	53					0	0	0.001984	0	0
PRKG1	5592	broad.mit.edu	37	10	54040623	54040623	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:54040623A>T	ENST00000373980.4	+	13	1895	c.1478A>T	c.(1477-1479)aAa>aTa	p.K493I	PRKG1_ENST00000373985.1_Missense_Mutation_p.K466I|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000401604.2_Missense_Mutation_p.K478I|PRKG1_ENST00000373975.2_Missense_Mutation_p.K196I	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	478	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CTGCATTCCAAAGGAATCATT	0.433000													6	59					0	0	0.001168	0	0
NCOR1	9611	broad.mit.edu	37	17	15989718	15989718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:15989718G>A	ENST00000268712.3	-	23	3312	c.3055C>T	c.(3055-3057)Cct>Tct	p.P1019S	NCOR1_ENST00000395851.1_Missense_Mutation_p.P1035S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1019	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACGCCTTCAGGGAGATTAGTT	0.443000													6	50					0	0	0.001168	0	0
SPTA1	6708	broad.mit.edu	37	1	158655074	158655074	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158655074C>T	ENST00000368148.3	-	2	268	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E30K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	30					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCAACACTTCCTGACGCCTC	0.473000													12	113					0	0	0.001855	0	0
KIAA1429	25962	broad.mit.edu	37	8	95539313	95539313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:95539313C>T	ENST00000297591.5	-	8	1234	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	KIAA1429_ENST00000421249.2_Missense_Mutation_p.E387K|KIAA1429_ENST00000437199.1_Missense_Mutation_p.E387K	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	387					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCTAAGAGTTCTGTTAACTTC	0.338000													13	151					0	0	0.001368	0	0
KIAA1958	158405	broad.mit.edu	37	9	115336381	115336381	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:115336381C>T	ENST00000337530.6	+	2	317	c.21C>T	c.(19-21)acC>acT	p.T7T	KIAA1958_ENST00000374244.3_Silent_p.T7T|KIAA1958_ENST00000536272.1_Silent_p.T7T	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	7										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GTCTTCATACCTCATCTGAGA	0.433000													10	44					0	0	0.008291	0	0
LRCH1	23143	broad.mit.edu	37	13	47315886	47315886	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:47315886C>G	ENST00000389798.3	+	19	2287	c.2090C>G	c.(2089-2091)gCc>gGc	p.A697G	LRCH1_ENST00000389797.3_Missense_Mutation_p.A732G|LRCH1_ENST00000311191.6_Intron	NM_015116.2	NP_055931.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	697										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CCAACTTCTGCCCTCCGCTCC	0.498000													19	259					0	0	0.007413	0	0
CXorf61	203413	broad.mit.edu	37	X	115593162	115593162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:115593162C>T	ENST00000371894.4	-	2	234	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	30						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						GATGACATTTCGCCAGTGTTT	0.383000													11	21					0	0	0.000978	0	0
GPR98	84059	broad.mit.edu	37	5	90040908	90040908	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:90040908G>A	ENST00000405460.2	+	51	10691	c.10595G>A	c.(10594-10596)tGg>tAg	p.W3532*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3532					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTTACTGCTGGAATTCGGAG	0.398000													27	230					0	0	0.002445	0	0
SF3B1	23451	broad.mit.edu	37	2	198285164	198285164	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:198285164G>A	ENST00000335508.5	-	4	494	c.403C>T	c.(403-405)Cct>Tct	p.P135S	SF3B1_ENST00000409915.4_Missense_Mutation_p.P135S|SF3B1_ENST00000487698.1_Missense_Mutation_p.P135S|SF3B1_ENST00000414963.2_Missense_Mutation_p.P135S	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	135					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCTGCAAAAGGATCAAGACGC	0.383000			Mis		myelodysplastic syndrome								5	57					0	0	0.001168	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779463	156779463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:156779463C>T	ENST00000392306.2	-	6	873	c.734G>A	c.(733-735)gGg>gAg	p.G245E	SH2D2A_ENST00000368198.3_Missense_Mutation_p.G217E|SH2D2A_ENST00000368199.3_Missense_Mutation_p.G235E	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	235	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCCTTCTCCCCGGCCCCCTC	0.637000													16	58					0	0	0.004990	0	0
TMEM246	84302	broad.mit.edu	37	9	104238679	104238679	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:104238679G>A	ENST00000374851.1	-	4	1843	c.696C>T	c.(694-696)ttC>ttT	p.F232F	TMEM246_ENST00000374848.3_Silent_p.F232F|RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374847.1_Silent_p.F232F|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA			Q9BRR3	CI125_HUMAN	transmembrane protein 246	232						integral to membrane											GTGGCTCAGAGAAGCGAGCCC	0.542000													5	42					0	0	0.001984	0	0
TENM3	55714	broad.mit.edu	37	4	183664394	183664394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:183664394G>A	ENST00000511685.1	+	19	3574	c.3451G>A	c.(3451-3453)Ggc>Agc	p.G1151S	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.G1151S					teneurin transmembrane protein 3																		TAGCATCATGGGCAATGGGCG	0.507000													13	21					0	0	0.002450	0	0
KCNB2	9312	broad.mit.edu	37	8	73848257	73848257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:73848257G>A	ENST00000523207.1	+	3	1255	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	223					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGAAACGGACGAATTTGGACA	0.478000													26	81					0	0	0.003330	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106116842	106116842	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:106116842C>T	ENST00000357242.5	+	21	3184	c.3010C>T	c.(3010-3012)Cat>Tat	p.H1004Y	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.H998Y	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	1004						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TAACTTATTTCATGAGGACCC	0.353000													20	35					0	0	0.008871	0	0
IKZF5	64376	broad.mit.edu	37	10	124753638	124753638	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:124753638C>T	ENST00000368886.5	-	5	1238	c.918G>A	c.(916-918)caG>caA	p.Q306Q	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		GAGAGGAGCTCTGAGGAATAC	0.532000													15	69					0	0	0.002450	0	0
LIMCH1	22998	broad.mit.edu	37	4	41691626	41691626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:41691626C>T	ENST00000313860.7	+	25	3151	c.3097C>T	c.(3097-3099)Ctc>Ttc	p.L1033F	LIMCH1_ENST00000514096.1_Missense_Mutation_p.L847F|LIMCH1_ENST00000512820.1_Missense_Mutation_p.L1019F|LIMCH1_ENST00000503057.1_Missense_Mutation_p.L1417F|LIMCH1_ENST00000509277.1_Missense_Mutation_p.L866F|LIMCH1_ENST00000512632.1_Missense_Mutation_p.L930F|LIMCH1_ENST00000512946.1_Missense_Mutation_p.L1007F|LIMCH1_ENST00000513024.1_Missense_Mutation_p.L860F|LIMCH1_ENST00000381753.4_Missense_Mutation_p.L840F|LIMCH1_ENST00000508501.1_Missense_Mutation_p.L1006F|LIMCH1_ENST00000396595.3_Missense_Mutation_p.L852F|RP11-227F19.5_ENST00000506475.1_RNA|LIMCH1_ENST00000511496.1_Missense_Mutation_p.L847F	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	1033	LIM zinc-binding.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GACCCTCAATCTCTATTTTCA	0.433000													5	53					0	0	0.001984	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13928098	13928098	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:13928098A>T	ENST00000254323.2	+	7	1438	c.1249A>T	c.(1249-1251)Att>Ttt	p.I417F	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.I251F	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	417							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCTGGACCCCATTGGCTGCCT	0.622000													7	52					0	0	0.001984	0	0
GSAP	54103	broad.mit.edu	37	7	77006657	77006657	+	Silent	SNP	G	G	A	rs138204887	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:77006657G>A	ENST00000257626.7	-	9	705	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_017439.3	NP_059135.2			gamma-secretase activating protein																		GAGCCCAAACGAAATCCTCAG	0.303000													25	128					0	0	0.006320	0	0
FERMT2	10979	broad.mit.edu	37	14	53340905	53340905	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:53340905T>C	ENST00000395631.2	-	9	1354	c.1138A>G	c.(1138-1140)Aaa>Gaa	p.K380E	FERMT2_ENST00000341590.3_Missense_Mutation_p.K380E|FERMT2_ENST00000343279.4_Missense_Mutation_p.K380E|FERMT2_ENST00000553373.1_Missense_Mutation_p.K380E|FERMT2_ENST00000399304.3_Missense_Mutation_p.K380E			Q96AC1	FERM2_HUMAN	fermitin family member 2	380	FERM.|PH.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TTGAAAACTTTAATGTAGTCA	0.299000													6	32					0	0	0.001984	0	0
MYOF	26509	broad.mit.edu	37	10	95147663	95147663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:95147663C>T	ENST00000371501.4	-	19	1711	c.1589G>A	c.(1588-1590)gGa>gAa	p.G530E	MYOF_ENST00000358334.5_Missense_Mutation_p.G517E|MYOF_ENST00000371502.4_Missense_Mutation_p.G530E|MYOF_ENST00000359263.4_Missense_Mutation_p.G530E			Q9NZM1	MYOF_HUMAN	myoferlin	530					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GTAGGCAACTCCTTCCCCCTG	0.428000													7	69					0	0	0.001984	0	0
ABCC5	10057	broad.mit.edu	37	3	183689601	183689601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:183689601G>A	ENST00000334444.6	-	11	1751	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	ABCC5_ENST00000265586.6_Missense_Mutation_p.S504F	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	504						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTGGATACTGGAGTGGGAGGA	0.493000													8	32					0	0	0.006214	0	0
CCDC70	83446	broad.mit.edu	37	13	52439628	52439628	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:52439628G>A	ENST00000242819.4	+	2	410	c.114G>A	c.(112-114)caG>caA	p.Q38Q		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	38						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GTATTCGCCAGAAGAAACTAA	0.483000													4	48					0	0	0.000602	0	0
OR4N2	390429	broad.mit.edu	37	14	20295961	20295961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:20295961G>A	ENST00000568211.1	+	1	354	c.354G>A	c.(352-354)atG>atA	p.M118I	OR4N2_ENST00000315947.1_Missense_Mutation_p.M118I			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTTGTGATGGCCTTTGACC	0.517000													19	163					0	0	0.006122	0	0
GPC5	2262	broad.mit.edu	37	13	92797201	92797201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:92797201C>T	ENST00000377067.3	+	7	1892	c.1520C>T	c.(1519-1521)tCa>tTa	p.S507L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	507						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGCGGGGGATCAGGAAGTGGA	0.433000													4	15					0	0	0.000602	0	0
GTF3C1	2975	broad.mit.edu	37	16	27561109	27561109	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:27561109A>G	ENST00000356183.4	-	1	118	c.103T>C	c.(103-105)Ttc>Ctc	p.F35L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.F35L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	35						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGCAGCGGGAAGGGCGGCACT	0.677000													6	23					0	0	0.001984	0	0
PCDHA6	56142	broad.mit.edu	37	5	140207725	140207725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140207725C>T	ENST00000529310.1	+	1	163	c.49C>T	c.(49-51)Ccg>Tcg	p.P17S	PCDHA6_ENST00000527624.1_Missense_Mutation_p.P17S|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCTCCTCCCGCTTCTGCT	0.547000													8	76					0	0	0.003080	0	0
ATP12A	479	broad.mit.edu	37	13	25274926	25274926	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:25274926A>T	ENST00000218548.6	+	13	2098	c.1765A>T	c.(1765-1767)Acc>Tcc	p.T589S	ATP12A_ENST00000381946.3_Missense_Mutation_p.T583S	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	583					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GTTTCCAGAAACCTACTCATT	0.438000													8	48					0	0	0.008291	0	0
OR2G2	81470	broad.mit.edu	37	1	247752052	247752052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:247752052C>T	ENST00000320065.1	+	1	391	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGCTGTCTGCCGTCCTCTCCA	0.547000													20	121					0	0	0.002780	0	0
PLAG1	5324	broad.mit.edu	37	8	57078987	57078987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:57078987G>A	ENST00000316981.3	-	5	1797	c.1318C>T	c.(1318-1320)Ctt>Ttt	p.L440F	PLAG1_ENST00000423799.2_Missense_Mutation_p.L358F|PLAG1_ENST00000429357.2_Missense_Mutation_p.L440F	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	440	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CTCATTCCAAGGCTCCCCACT	0.458000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								7	68					0	0	0.001984	0	0
ASTN2	23245	broad.mit.edu	37	9	119903696	119903696	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:119903696G>A	ENST00000313400.4	-	4	1177	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	ASTN2_ENST00000373996.3_Silent_p.F359F|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron			O75129	ASTN2_HUMAN	astrotactin 2	359						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGTTAGCGCGGAAACTCTCCT	0.592000													6	36					0	0	0.001984	0	0
C4orf51	646603	broad.mit.edu	37	4	146651099	146651099	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:146651099G>A	ENST00000438731.1	+	5	483	c.483G>A	c.(481-483)ggG>ggA	p.G161G		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	161										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						GTCGACGAGGGAAAGGTGTCC	0.483000													7	61					0	0	0.001984	0	0
KANSL1	284058	broad.mit.edu	37	17	44109635	44109635	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:44109635G>A	ENST00000262419.6	-	14	3338	c.2868C>T	c.(2866-2868)acC>acT	p.T956T	KANSL1_ENST00000572904.1_Silent_p.T956T|KANSL1_ENST00000574590.1_Silent_p.T956T|KANSL1_ENST00000432791.1_Silent_p.T956T|KANSL1_ENST00000393476.3_Silent_p.T250T|KANSL1_ENST00000575318.1_Silent_p.T892T	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	956						MLL1 complex	protein binding										CCAGCTGGGGGGTTGTCCGGC	0.562000													6	76					0	0	0.001984	0	0
ACTN2	88	broad.mit.edu	37	1	236889272	236889272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:236889272G>A	ENST00000366578.4	+	5	654	c.488G>A	c.(487-489)aGg>aAg	p.R163K	ACTN2_ENST00000542672.1_Missense_Mutation_p.R163K|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	163	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGGTGTCAGAGGAAAACTGCT	0.478000													11	134					0	0	0.001368	0	0
ADAD1	132612	broad.mit.edu	37	4	123333892	123333892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:123333892G>A	ENST00000296513.2	+	10	1362	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	ADAD1_ENST00000388724.2_Missense_Mutation_p.E382K|ADAD1_ENST00000388725.2_Missense_Mutation_p.E375K	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	393	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GACCAGATGGGAAGTGCTTGG	0.423000													11	109					0	0	0.001368	0	0
NXPE1	120400	broad.mit.edu	37	11	114401473	114401473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:114401473G>A	ENST00000536312.1	-	6	1149	c.257C>T	c.(256-258)cCc>cTc	p.P86L	NXPE1_ENST00000424269.1_Missense_Mutation_p.P86L|NXPE1_ENST00000251921.2_5'UTR					neurexophilin and PC-esterase domain family, member 1																		GAAAGGTCTGGGTGGGATCTG	0.478000													26	73					0	0	0.007291	0	0
LRRN2	10446	broad.mit.edu	37	1	204588781	204588781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:204588781G>A	ENST00000367175.1	-	1	2552	c.340C>T	c.(340-342)Cat>Tat	p.H114Y	LRRN2_ENST00000367176.3_Missense_Mutation_p.H114Y|LRRN2_ENST00000367177.3_Missense_Mutation_p.H114Y			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	114					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGCAGGGCATGGAAATCACAG	0.597000													19	92					0	0	0.006122	0	0
VAV1	7409	broad.mit.edu	37	19	6854093	6854093	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:6854093G>A	ENST00000304076.2	+	25	2496	c.2402G>A	c.(2401-2403)gGg>gAg	p.G801E	VAV1_ENST00000602142.1_Missense_Mutation_p.G823E|VAV1_ENST00000599806.1_Missense_Mutation_p.G768E|VAV1_ENST00000596764.1_Missense_Mutation_p.G791E|VAV1_ENST00000539284.1_Missense_Mutation_p.G726E	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	823	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TGGTGGCGAGGGGAGATCTAT	0.612000													12	36					0	0	0.001855	0	0
AKAP9	10142	broad.mit.edu	37	7	91632338	91632338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:91632338C>T	ENST00000359028.2	+	9	3368	c.3143C>T	c.(3142-3144)tCt>tTt	p.S1048F	AKAP9_ENST00000358100.2_Missense_Mutation_p.S1048F|AKAP9_ENST00000356239.3_Missense_Mutation_p.S1036F			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1048					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGATCAGTTTCTAAAGTAAAT	0.358000			T	BRAF	papillary thyroid								8	36					0	0	0.004482	0	0
ADORA2A	135	broad.mit.edu	37	22	24836822	24836822	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:24836822C>T	ENST00000337539.7	+	3	1063	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_3'UTR|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000543438.1_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	202					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GCGGATCTTCCTGGCGGCGCG	0.592000													14	164					0	0	0.004007	0	0
GPR116	221395	broad.mit.edu	37	6	46826169	46826169	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:46826169C>T	ENST00000283296.7	-	17	3759	c.3471G>A	c.(3469-3471)acG>acA	p.T1157T	GPR116_ENST00000362015.4_Silent_p.T1157T|GPR116_ENST00000545669.1_Silent_p.T586T|GPR116_ENST00000265417.7_Silent_p.T1157T|GPR116_ENST00000456426.2_Silent_p.T1015T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1157					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CATTCTTCCTCGTATAGACTT	0.557000													8	20					0	0	0.004482	0	0
IGHG3	3502	broad.mit.edu	37	14	106236253	106236253	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:106236253G>A	ENST00000390551.2	-	0	550																											CAGGGGTCCGGGAAATCATAA	0.582000													25	47					0	0	0.003330	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050174	42050174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:42050174G>A	ENST00000372584.1	-	3	1309	c.295C>T	c.(295-297)Cct>Tct	p.P99S	HIVEP3_ENST00000429157.2_Missense_Mutation_p.P99S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P99S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P99S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	99					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGTGTCAGAGGGTGCTGCGGA	0.597000													28	151					0	0	0.003271	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306678	2306678	+	Silent	SNP	G	G	A	rs61910680	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:2306678G>A	ENST00000290974.2	-	8	1728	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Silent_p.L433L|ZFYVE28_ENST00000515312.1_Silent_p.L393L	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	463					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCTCGGCCTCGAGATTGTTGT	0.697000													19	58					0	0	0.007413	0	0
CHST12	55501	broad.mit.edu	37	7	2472616	2472616	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:2472616C>T	ENST00000258711.6	+	2	477	c.342C>T	c.(340-342)agC>agT	p.S114S		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	114					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CCCGGCGCAGCCCAGACCAGG	0.721000													11	29					0	0	0.001368	0	0
RIPK3	11035	broad.mit.edu	37	14	24808479	24808479	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:24808479G>A	ENST00000216274.5	-	3	431	c.213C>T	c.(211-213)ttC>ttT	p.F71F	RIPK3_ENST00000554338.1_5'UTR	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	71	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		GGCGCAGCACGAATTCGTTAT	0.567000													9	77					0	0	0.008291	0	0
DNAH17	8632	broad.mit.edu	37	17	76571059	76571059	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:76571059C>T	ENST00000389840.5	-	2	205	c.81G>A	c.(79-81)tgG>tgA	p.W27*	DNAH17_ENST00000585328.1_Nonsense_Mutation_p.W27*					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCAGCTTGCTCCACTTGTCCG	0.562000													5	29					0	0	0.001168	0	0
CHD5	26038	broad.mit.edu	37	1	6214776	6214776	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:6214776G>A	ENST00000262450.3	-	5	788	c.689C>T	c.(688-690)cCc>cTc	p.P230L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	230					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CACCTGCGGGGGGCTGACGGC	0.687000													4	36					0	0	0.000602	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510236	77510236	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:77510236G>A	ENST00000477717.1	+	3	844	c.609G>A	c.(607-609)atG>atA	p.M203I		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	203					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGGCCTTCATGATTACTCGCC	0.582000													24	94					0	0	0.006320	0	0
DNAH3	55567	broad.mit.edu	37	16	21053493	21053493	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:21053493G>A	ENST00000261383.3	-	32	4493	c.4494C>T	c.(4492-4494)atC>atT	p.I1498I	DNAH3_ENST00000415178.1_Silent_p.I1498I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1498	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGATGCTGAGGATCTGCTGAG	0.517000													7	70					0	0	0.001984	0	0
FANCD2	2177	broad.mit.edu	37	3	10106108	10106108	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:10106108G>A	ENST00000287647.3	+	22	2109	c.2016G>A	c.(2014-2016)ccG>ccA	p.P672P	FANCD2_ENST00000383806.1_Silent_p.P672P|FANCD2_ENST00000419585.1_Silent_p.P672P|FANCD2_ENST00000383807.1_Silent_p.P672P	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	672					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GTGTTGTTCCGGAAGGGTAGG	0.458000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	166					0	0	0.001855	0	0
SPOCD1	90853	broad.mit.edu	37	1	32259353	32259353	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:32259353C>T	ENST00000360482.2	-	12	2658	c.2529G>A	c.(2527-2529)caG>caA	p.Q843Q	SPOCD1_ENST00000257100.3_Silent_p.Q336Q|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Silent_p.Q843Q	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	843					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CACACCTGTCCTGTGGTTCCG	0.572000													12	55					0	0	0.001855	0	0
ILDR1	286676	broad.mit.edu	37	3	121712643	121712643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:121712643G>A	ENST00000273691.3	-	6	926	c.821C>T	c.(820-822)tCc>tTc	p.S274F	ILDR1_ENST00000393631.1_Missense_Mutation_p.S229F|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.S286F|ILDR1_ENST00000344209.5_Missense_Mutation_p.S318F	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	318						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GCCCAGGGAGGACAGCATGCT	0.587000													8	34					0	0	0.003080	0	0
ACADL	33	broad.mit.edu	37	2	211082805	211082805	+	Silent	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:211082805T>A	ENST00000233710.3	-	3	482	c.255A>T	c.(253-255)gtA>gtT	p.V85V	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	85					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		CCTCCCTACTTACTTCTCCAG	0.368000													6	25					0	0	0.001168	0	0
ANPEP	290	broad.mit.edu	37	15	90342782	90342782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:90342782C>T	ENST00000300060.6	-	13	2141	c.1828G>A	c.(1828-1830)Gat>Aat	p.D610N	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	610	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CTGAAGAGATCGTTCTGGGCT	0.592000													5	61					0	0	0.001168	0	0
MAGEA12	4111	broad.mit.edu	37	X	151899949	151899949	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:151899949C>T	ENST00000393900.3	-	3	1205	c.852G>A	c.(850-852)gtG>gtA	p.V284V	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.V284V|MAGEA12_ENST00000357916.4_Silent_p.V284V	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	284	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGACTTTCACATAGCTGG	0.542000													15	87					0	0	0.004007	0	0
DNAH9	1770	broad.mit.edu	37	17	11666774	11666774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:11666774C>T	ENST00000262442.3	+	36	7081	c.7013C>T	c.(7012-7014)cCc>cTc	p.P2338L	DNAH9_ENST00000454412.2_Missense_Mutation_p.P2338L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2338					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGATCATTCCCATCCCAGAG	0.498000													11	95					0	0	0.001855	0	0
MAMDC2	256691	broad.mit.edu	37	9	72746444	72746444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:72746444G>A	ENST00000377182.4	+	7	1527	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	304	MAM 2.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GGTTATTTTTGAAGTTGCTTT	0.393000													12	61					0	0	0.000978	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764281	138764281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:138764281G>A	ENST00000242351.5	-	4	1722	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S469F|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.S469F	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	469					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GACATCTCGGGAAGCAGGTCC	0.463000													11	75					0	0	0.000978	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457235	110457235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:110457235G>A	ENST00000378402.5	+	38	5241	c.5137G>A	c.(5137-5139)Gaa>Aaa	p.E1713K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1713	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATTGAATGTGAAACATCCCC	0.443000										HNSCC(38;0.096)			20	194					0	0	0.003330	0	0
RSPRY1	89970	broad.mit.edu	37	16	57238655	57238655	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:57238655C>T	ENST00000537866.1	+	2	958	c.85C>T	c.(85-87)Cac>Tac	p.H29Y	RSPRY1_ENST00000394420.4_Missense_Mutation_p.H29Y			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	29						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GCACATAGCCCACTTCCTAGG	0.507000													24	108					0	0	0.003330	0	0
SIN3B	23309	broad.mit.edu	37	19	16980352	16980352	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:16980352C>T	ENST00000379803.1	+	14	1998	c.1984C>T	c.(1984-1986)Ctg>Ttg	p.L662L	SIN3B_ENST00000595541.1_Silent_p.L220L|SIN3B_ENST00000248054.5_Silent_p.L630L	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	662					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCGGCAGATCCTGGAGGACGC	0.657000													6	21					0	0	0.001984	0	0
HTR1D	3352	broad.mit.edu	37	1	23520594	23520594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:23520594G>A	ENST00000374619.1	-	1	628	c.119C>T	c.(118-120)tCc>tTc	p.S40F	HTR1D_ENST00000314113.3_Missense_Mutation_p.S40F	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	40					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CACGGCAAGGGAGATCTTGAG	0.582000													6	79					0	0	0.001168	0	0
ENC1	8507	broad.mit.edu	37	5	73931021	73931021	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:73931021G>A	ENST00000302351.4	-	2	2420	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	ENC1_ENST00000537006.1_Silent_p.L430L|ENC1_ENST00000510316.1_Silent_p.L357L	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	430				LREGVSNAA -> RPRRRYNCAQ (in Ref. 1).	nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CGCCTTCTCGGAGTGGGGCCA	0.537000													13	44					0	0	0.001855	0	0
C6	729	broad.mit.edu	37	5	41176728	41176728	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:41176728C>T	ENST00000263413.3	-	8	1281	c.1017G>A	c.(1015-1017)ttG>ttA	p.L339L	C6_ENST00000337836.5_Silent_p.L339L|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	339	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TAAGTGCTTTCAAAAAGACAT	0.398000													7	42					0	0	0.004482	0	0
OR1L3	26735	broad.mit.edu	37	9	125437891	125437891	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:125437891C>T	ENST00000304820.2	+	1	577	c.483C>T	c.(481-483)ctC>ctT	p.L161L		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TACATGTCCTCCTGGTGAATC	0.443000													13	150					0	0	0.004007	0	0
ANO3	63982	broad.mit.edu	37	11	26574872	26574872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:26574872G>A	ENST00000256737.3	+	13	2218	c.1366G>A	c.(1366-1368)Gac>Aac	p.D456N	ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000531568.1_Missense_Mutation_p.D310N|ANO3_ENST00000525139.1_Missense_Mutation_p.D440N|ANO3_ENST00000537978.1_Missense_Mutation_p.D440N	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	456						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GAGACTCAACGACAGCTGTAT	0.443000													18	99					0	0	0.007413	0	0
ACTL8	81569	broad.mit.edu	37	1	18152362	18152362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:18152362C>T	ENST00000375406.1	+	3	665	c.449C>T	c.(448-450)tCt>tTt	p.S150F		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	150						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GTGGTTGATTCTGGCTATGGC	0.637000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	27					0	0	0.000602	0	0
GPR112	139378	broad.mit.edu	37	X	135427664	135427664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:135427664C>T	ENST00000394143.1	+	6	2090	c.1799C>T	c.(1798-1800)tCc>tTc	p.S600F	GPR112_ENST00000412101.1_Missense_Mutation_p.S395F|GPR112_ENST00000287534.4_Missense_Mutation_p.S537F|GPR112_ENST00000394141.1_Missense_Mutation_p.S395F|GPR112_ENST00000370652.1_Missense_Mutation_p.S600F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	600					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S600F(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACTATGCTTTCCTCCACAATC	0.458000													7	20					0	0	0.003080	0	0
MYOCD	93649	broad.mit.edu	37	17	12656434	12656434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:12656434G>A	ENST00000425538.1	+	10	2029	c.1829G>A	c.(1828-1830)gGa>gAa	p.G610E	MYOCD_ENST00000395988.1_Missense_Mutation_p.G514E|MYOCD_ENST00000343344.4_Missense_Mutation_p.G610E	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	610					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAGCCTCTTGGAAATGCTCAT	0.522000													8	92					0	0	0.006214	0	0
UGT2B11	10720	broad.mit.edu	37	4	70066279	70066279	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:70066279G>T	ENST00000446444.1	-	6	1477	c.1469C>A	c.(1468-1470)tCt>tAt	p.S490Y	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	490					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.S490Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						CACATCCAAAGAGTGGTACTG	0.463000													10	97					0.00136819	0.00154351	0.001368	1	0
SI	6476	broad.mit.edu	37	3	164767590	164767590	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:164767590G>A	ENST00000264382.3	-	14	1648	c.1586C>T	c.(1585-1587)cCg>cTg	p.P529L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	529	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGGAGTAAACGGTGGATAATT	0.279000										HNSCC(35;0.089)			9	45					0	0	0.006214	0	0
IGF1R	3480	broad.mit.edu	37	15	99442803	99442803	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:99442803C>T	ENST00000268035.6	+	5	1811	c.1200C>T	c.(1198-1200)tcC>tcT	p.S400S	IGF1R_ENST00000558762.1_Silent_p.S400S	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	400					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TCTCCTTGTCCTTCCTAAAAA	0.488000													5	81					0	0	0.001984	0	0
CLCN1	1180	broad.mit.edu	37	7	143018564	143018564	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:143018564C>T	ENST00000343257.2	+	4	627	c.540C>T	c.(538-540)caC>caT	p.H180H		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	180					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TCTTCTGCCACCTCATCTCTC	0.622000													16	67					0	0	0.007413	0	0
PROM2	150696	broad.mit.edu	37	2	95943131	95943131	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:95943131C>T	ENST00000317620.9	+	7	925	c.792C>T	c.(790-792)caC>caT	p.H264H	PROM2_ENST00000317668.4_Silent_p.H264H|PROM2_ENST00000403131.2_Silent_p.H264H|PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000542147.1_Silent_p.H264H	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	264						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TCTCCGTGCACCACCTGCAAA	0.642000													5	31					0	0	0.000602	0	0
GON4L	54856	broad.mit.edu	37	1	155774905	155774905	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:155774905G>A	ENST00000437809.1	-	11	1602	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Nonsense_Mutation_p.R494*|GON4L_ENST00000368331.1_Nonsense_Mutation_p.R494*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.R494*			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	494					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAACGCGTTCGAAATGCAATG	0.468000													7	47					0	0	0.003080	0	0
DUSP4	1846	broad.mit.edu	37	8	29202954	29202954	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:29202954G>A	ENST00000240101.2	-	2	1652	c.93C>T	c.(91-93)gcC>gcT	p.A31A	DUSP4_ENST00000240100.2_Intron	NM_057158.3	NP_476499.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	0					endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		CCATGCTGGGGGCTCGAACTG	0.512000													6	27					0	0	0.001984	0	0
OR6C68	403284	broad.mit.edu	37	12	55887086	55887086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:55887086C>T	ENST00000379662.1	+	1	940	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|OR6C68_ENST00000548615.1_Missense_Mutation_p.R309C			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						AATTGCATTTCGTTTAAAAAA	0.279000													7	29					0	0	0.001984	0	0
RYR1	6261	broad.mit.edu	37	19	38976641	38976641	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:38976641C>T	ENST00000355481.4	+	34	5477	c.5346C>T	c.(5344-5346)ttC>ttT	p.F1782F	RYR1_ENST00000360985.3_Silent_p.F1782F|RYR1_ENST00000359596.3_Silent_p.F1782F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1782	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCCCTGTTTCGTGGCCGCTC	0.682000													4	25					0	0	0.000248	0	0
TREH	11181	broad.mit.edu	37	11	118533871	118533871	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:118533871C>T	ENST00000529101.1	-	3	270	c.225G>A	c.(223-225)agG>agA	p.R75R	TREH_ENST00000397925.1_Silent_p.R75R|TREH_ENST00000530256.1_5'UTR|TREH_ENST00000264029.4_Silent_p.R75R|TREH_ENST00000525958.1_Silent_p.R75R			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	75					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		GATTGTGGTCCCTGGACAGCT	0.617000													4	15					0	0	0.000248	0	0
DMBT1	1755	broad.mit.edu	37	10	124389489	124389489	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:124389489C>T	ENST00000338354.3	+	44	5521	c.5415C>T	c.(5413-5415)aaC>aaT	p.N1805N	DMBT1_ENST00000368956.2_Silent_p.N1177N|DMBT1_ENST00000344338.3_Silent_p.N1795N|DMBT1_ENST00000359586.6_Silent_p.N525N|DMBT1_ENST00000368955.3_Silent_p.N1795N|DMBT1_ENST00000330163.4_Silent_p.N1177N|DMBT1_ENST00000368909.3_Silent_p.N1805N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1805	CUB 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATCGCATAAACCTGGGCTTCA	0.498000													7	101					0	0	0.004482	0	0
YLPM1	56252	broad.mit.edu	37	14	75247204	75247204	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:75247204C>T	ENST00000325680.7	+	3	1331	c.1207C>T	c.(1207-1209)Cag>Tag	p.Q403*	YLPM1_ENST00000552421.1_Nonsense_Mutation_p.Q403*|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.Q403*	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	225	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTTCCAGTATCAGGGAATAAT	0.493000													15	79					0	0	0.004007	0	0
CEP192	55125	broad.mit.edu	37	18	13055829	13055829	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:13055829C>T	ENST00000506447.1	+	19	3320	c.3240C>T	c.(3238-3240)gcC>gcT	p.A1080A	CEP192_ENST00000430049.2_Silent_p.A605A|CEP192_ENST00000325971.8_Silent_p.A484A	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	675										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCAGTCCAGCCGCATTGGAGG	0.353000													7	34					0	0	0.004482	0	0
C7orf34	135927	broad.mit.edu	37	7	142637500	142637500	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:142637500G>A	ENST00000409607.3	+	2	311	c.270G>A	c.(268-270)caG>caA	p.Q90Q		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	65						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					AGATGTGGCAGGTGGTGGACA	0.552000													8	86					0	0	0.003080	0	0
HTT	3064	broad.mit.edu	37	4	3221983	3221983	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:3221983C>T	ENST00000355072.5	+	53	7462	c.7317C>T	c.(7315-7317)ttC>ttT	p.F2439F		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2439					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCGTGGAGTTCCTCCAGGAAA	0.512000													18	71					0	0	0.001523	0	0
KCNH1	3756	broad.mit.edu	37	1	210948781	210948781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:210948781C>T	ENST00000367007.4	-	10	2109	c.1940G>A	c.(1939-1941)cGg>cAg	p.R647Q	KCNH1_ENST00000271751.4_Missense_Mutation_p.R674Q	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	674					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CAGGGCATCCCGCTTGATCAC	0.527000													6	51					0	0	0.001984	0	0
ANK3	288	broad.mit.edu	37	10	61831712	61831712	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:61831712G>A	ENST00000280772.1	-	37	9118	c.8927C>T	c.(8926-8928)cCc>cTc	p.P2976L	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2976					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAAACCATCGGGAATATTAGA	0.453000													8	48					0	0	0.006214	0	0
EVPL	2125	broad.mit.edu	37	17	74003351	74003351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:74003351C>T	ENST00000301607.3	-	22	6188	c.5935G>A	c.(5935-5937)Gag>Aag	p.E1979K	EVPL_ENST00000586740.1_Missense_Mutation_p.E2001K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1979	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AAATCCTTCTCGTAGCTGGAC	0.642000													11	91					0	0	0.001855	0	0
TMEM244	253582	broad.mit.edu	37	6	130164702	130164702	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:130164702G>A	ENST00000438392.1	-	4	346	c.166C>T	c.(166-168)Ccc>Tcc	p.P56S	TMEM244_ENST00000368143.1_Missense_Mutation_p.P56S			Q5VVB8	CF191_HUMAN	transmembrane protein 244	56						integral to membrane											AGCCATGAGGGATTTGTTTTG	0.308000													10	69					0	0	0.001855	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673385	141673385	+	Silent	SNP	G	G	A	rs144536521		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:141673385G>A	ENST00000547270.1	-	1	188	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	35					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CCAAGAAAACGAAGGCATTGG	0.483000													10	30					0	0	0.008291	0	0
FNDC9	408263	broad.mit.edu	37	5	156770011	156770011	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:156770011G>A	ENST00000312349.4	-	2	721	c.534C>T	c.(532-534)ctC>ctT	p.L178L	CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000541131.1_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	178						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CCACCAGGGGGAGCCCCTGCA	0.622000											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	79					0	0	0.006214	0	0
GPR139	124274	broad.mit.edu	37	16	20043735	20043735	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:20043735G>A	ENST00000570682.1	-	2	684	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	128						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GGCAGACAGCGATATACCTGT	0.507000													12	88					0	0	0.000978	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879386	144879386	+	Missense_Mutation	SNP	C	C	T	rs151134727	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:144879386C>T	ENST00000369359.4	-	30	4510	c.4472G>A	c.(4471-4473)cGa>cAa	p.R1491Q	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1311Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R1355Q|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1355Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1491Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1355					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GATGTCCTTTCGTAGGACCAA	0.493000			T	PDGFRB	MPD								19	339					0	0	0.001523	0	0
GNAS	2778	broad.mit.edu	37	20	57474005	57474005	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:57474005A>T	ENST00000371100.4	+	3	2703	c.2151A>T	c.(2149-2151)gaA>gaT	p.E717D	GNAS_ENST00000354359.7_Missense_Mutation_p.E74D|GNAS_ENST00000605439.1_Missense_Mutation_p.E15D|GNAS_ENST00000265620.7_Intron|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371081.1_Missense_Mutation_p.E74D|GNAS_ENST00000371102.4_Intron|GNAS_ENST00000371095.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000603534.1_Missense_Mutation_p.E15D|GNAS_ENST00000306090.10_Intron|GNAS_ENST00000371098.2_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.E74D	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	74					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.E717E(1)|p.E74E(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GGGGCGGCGAAGAGGACCCGC	0.473000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			17	86					0	0	0.006122	0	0
RERG	85004	broad.mit.edu	37	12	15262375	15262375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:15262375C>T	ENST00000256953.2	-	5	605	c.269G>A	c.(268-270)gGa>gAa	p.G90E	RERG_ENST00000536465.1_Missense_Mutation_p.G90E|RERG_ENST00000538313.1_Missense_Mutation_p.G90E|RERG_ENST00000546331.1_Missense_Mutation_p.G71E	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	90					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CTCAAAACTTCCTCGGTCAGT	0.478000													73	256					0	0	0.003610	0	0
DSC1	1823	broad.mit.edu	37	18	28737462	28737462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:28737462C>T	ENST00000257197.3	-	3	484	c.223G>A	c.(223-225)Ggc>Agc	p.G75S	DSC1_ENST00000257198.5_Missense_Mutation_p.G75S|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	75					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TAAATTGAGCCATCTTCTAGA	0.438000													4	66					0	0	0.000248	0	0
ZEB1	6935	broad.mit.edu	37	10	31815838	31815838	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:31815838G>A	ENST00000446923.2	+	9	3364	c.2973G>A	c.(2971-2973)tcG>tcA	p.S991S	ZEB1_ENST00000361642.5_Silent_p.S1008S|ZEB1_ENST00000560721.2_Silent_p.S987S|ZEB1_ENST00000320985.10_Silent_p.S1007S|ZEB1_ENST00000542815.3_Silent_p.S940S	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1007	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAATCCTCTCGAATGAGCACG	0.522000													5	27					0	0	0.000602	0	0
TRIML1	339976	broad.mit.edu	37	4	189068052	189068052	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:189068052G>A	ENST00000332517.3	+	6	1073	c.933G>A	c.(931-933)ggG>ggA	p.G311G	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	311	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGAAATATGGGGGAAGCAGAC	0.532000													5	106					0	0	0.001984	0	0
STON2	85439	broad.mit.edu	37	14	81744852	81744852	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:81744852T>A	ENST00000555447.1	-	6	1215	c.803A>T	c.(802-804)aAt>aTt	p.N268I	STON2_ENST00000267540.2_Missense_Mutation_p.N268I|STON2_ENST00000556280.1_5'UTR	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	268					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	p.N268S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TCCCATTGAATTATAAGGTAC	0.448000													18	79					0	0	0.007413	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18888042	18888042	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:18888042G>A	ENST00000380548.4	+	24	4801		c.e24+1		ADAMTSL1_ENST00000380545.5_Splice_Site	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1							proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GTGATCCAAGGTAAGAAACCC	0.473000													4	19					0	0	0.000602	0	0
TRHDE	29953	broad.mit.edu	37	12	73046898	73046898	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:73046898G>A	ENST00000261180.4	+	17	2907	c.2811G>A	c.(2809-2811)tgG>tgA	p.W937*		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	937					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACCTTGCCTGGAAGTTTTTCA	0.383000													6	35					0	0	0.001984	0	0
CYLD	1540	broad.mit.edu	37	16	50811837	50811837	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:50811837T>G	ENST00000540145.1	+	8	1538	c.1123T>G	c.(1123-1125)Tgg>Ggg	p.W375G	CYLD_ENST00000569418.1_Missense_Mutation_p.W372G|CYLD_ENST00000311559.9_Missense_Mutation_p.W375G|CYLD_ENST00000566206.1_Missense_Mutation_p.W372G|CYLD_ENST00000564326.1_Missense_Mutation_p.W372G|CYLD_ENST00000568704.2_Missense_Mutation_p.W372G|CYLD_ENST00000427738.3_Missense_Mutation_p.W375G|CYLD_ENST00000398568.2_Missense_Mutation_p.W372G			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	375	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AAAAAATACATGGTACATTGA	0.299000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				5	43					0	0	0.000602	0	0
LAMA1	284217	broad.mit.edu	37	18	6942202	6942202	+	Missense_Mutation	SNP	G	G	A	rs147708500		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:6942202G>A	ENST00000389658.3	-	63	9197	c.9104C>T	c.(9103-9105)tCg>tTg	p.S3035L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	3035	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCGCGGAACGAGGTCTGGCT	0.483000													6	29					0	0	0.001984	0	0
OR6M1	390261	broad.mit.edu	37	11	123676792	123676792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:123676792G>A	ENST00000309154.2	-	1	303	c.266C>T	c.(265-267)aCc>aTc	p.T89I		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AAAAGATATGGTTTTCTCTTC	0.438000													8	28					0	0	0.003080	0	0
CYP4F12	66002	broad.mit.edu	37	19	15795671	15795671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:15795671G>A	ENST00000550308.1	+	8	1344	c.964G>A	c.(964-966)Gct>Act	p.A322T	CYP4F12_ENST00000324632.9_Missense_Mutation_p.A322T	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AAGAGCAGAGGCTGACACCTT	0.527000													7	50					0	0	0.004482	0	0
CYP3A4	1576	broad.mit.edu	37	7	99361630	99361630	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:99361630C>T	ENST00000354593.2	-	5	527	c.424G>A	c.(424-426)Gat>Aat	p.D142N	CYP3A4_ENST00000336411.2_Missense_Mutation_p.D292N			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	292					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	AGCTCCAGATCGGACAGAGCT	0.428000													5	30					0	0	0.001168	0	0
SCN2B	6327	broad.mit.edu	37	11	118038887	118038887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:118038887C>T	ENST00000278947.5	-	3	602	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	121	Ig-like C2-type.				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		ATCCCCTCATCCTCCGGCTGC	0.567000													7	14					0	0	0.003080	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924319	105924319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:105924319G>A	ENST00000393359.2	-	2	866	c.440C>T	c.(439-441)aCc>aTc	p.T147I	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.T147I			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	147	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CATCTGGATGGTTCTGCGTTT	0.587000													11	131					0	0	0.001855	0	0
LINC00477	144360	broad.mit.edu	37	12	24736623	24736623	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:24736623C>T	ENST00000483544.1	-	0	479					NR_029451.2																						TCTGCGAGGTCGGGGATGCTG	0.557000													10	65					0	0	0.006214	0	0
ISG20L2	81875	broad.mit.edu	37	1	156694055	156694055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:156694055G>A	ENST00000313146.6	-	2	1615	c.833C>T	c.(832-834)tCc>tTc	p.S278F	ISG20L2_ENST00000368219.1_Missense_Mutation_p.S278F|ISG20L2_ENST00000472824.1_5'UTR	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	278	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACGGGTGAGGGACTTGGGGTG	0.542000													9	62					0	0	0.006214	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2273462	2273462	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:2273462A>G	ENST00000290974.2	-	11	2707	c.2368T>C	c.(2368-2370)Tgc>Cgc	p.C790R	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.C760R|ZFYVE28_ENST00000508471.1_Missense_Mutation_p.C95R|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.C720R	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	790					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GTCTCCTGGCACAGTGCACAG	0.617000													12	87					0	0	0.001855	0	0
IQGAP1	8826	broad.mit.edu	37	15	91037962	91037962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:91037962G>A	ENST00000268182.5	+	36	4770	c.4646G>A	c.(4645-4647)aGg>aAg	p.R1549K	IQGAP1_ENST00000560738.1_Missense_Mutation_p.R977K	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1549	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAAAAGCCTAGGGAAATGAAA	0.363000													7	88					0	0	0.003080	0	0
PHYHIP	9796	broad.mit.edu	37	8	22079004	22079004	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:22079004C>T	ENST00000454243.2	-	5	1429	c.855G>A	c.(853-855)gaG>gaA	p.E285E	PHYHIP_ENST00000321613.3_Silent_p.E285E	NM_014759.3	NP_055574.3	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	285										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TGTAGATGATCTCCAGGATGA	0.617000													7	49					0	0	0.003080	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214426	140214426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140214426C>T	ENST00000525929.1	+	1	458	c.458C>T	c.(457-459)cCa>cTa	p.P153L	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.P153L|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCGGTTTCCACTAGAGGGC	0.557000													5	30					0	0	0.004482	0	0
RBP3	5949	broad.mit.edu	37	10	48388700	48388700	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:48388700G>A	ENST00000224600.4	-	1	2291	c.2178C>T	c.(2176-2178)ctC>ctT	p.L726L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	726	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TAAGGTAGGTGAGCTCCTCTG	0.622000													5	42					0	0	0.000602	0	0
SRPX2	27286	broad.mit.edu	37	X	99917314	99917314	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:99917314C>T	ENST00000373004.3	+	4	733	c.305C>T	c.(304-306)tCg>tTg	p.S102L		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	102	Sushi 1.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GGAAGGAGGTCGGTGCAATGC	0.552000													14	50					0	0	0.004990	0	0
DSP	1832	broad.mit.edu	37	6	7580518	7580518	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:7580518G>A	ENST00000379802.3	+	23	4436	c.4095G>A	c.(4093-4095)caG>caA	p.Q1365Q	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1365	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TAAAAAATCAGTTTGAGACCG	0.458000													4	29					0	0	0.000248	0	0
FIBP	9158	broad.mit.edu	37	11	65653047	65653047	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:65653047G>A	ENST00000338369.2	-	5	712	c.600C>T	c.(598-600)gcC>gcT	p.A200A	FIBP_ENST00000357519.4_Silent_p.A200A|FIBP_ENST00000533045.1_Silent_p.A197A	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	200					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		CAGCGCAGAAGGCAAAGTCAC	0.562000											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	77					0	0	0.006122	0	0
LUM	4060	broad.mit.edu	37	12	91497959	91497959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:91497959C>T	ENST00000266718.4	-	3	1454	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	334					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						AGAGTGACTTCGTTAGCAACA	0.348000													8	39					0	0	0.006214	0	0
STAB2	55576	broad.mit.edu	37	12	104042530	104042530	+	Missense_Mutation	SNP	G	G	A	rs139925581	by1000genomes	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:104042530G>A	ENST00000388887.2	+	10	1307	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	368					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATTATGGAGCGACTCAGAGAA	0.453000													13	73					0	0	0.001855	0	0
ACACB	32	broad.mit.edu	37	12	109625967	109625967	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:109625967C>T	ENST00000338432.7	+	13	2263	c.2144_splice	c.e13+1	p.S715_splice	ACACB_ENST00000377854.5_Splice_Site_p.S715_splice|ACACB_ENST00000377848.3_Splice_Site_p.S715_splice			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	715	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GAGGCCATTTCGTCAGTATCt	0.552000													5	37					0	0	0.001168	0	0
GRXCR1	389207	broad.mit.edu	37	4	43032513	43032513	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:43032513T>C	ENST00000399770.2	+	4	829	c.829T>C	c.(829-831)Tgc>Cgc	p.C277R		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	277					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GTGTACGGCTTGCAATGAAAA	0.438000													12	116					0	0	0.000978	0	0
MNDA	4332	broad.mit.edu	37	1	158813785	158813785	+	Missense_Mutation	SNP	G	G	A	rs147313543		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158813785G>A	ENST00000368141.4	+	4	704	c.443G>A	c.(442-444)aGg>aAg	p.R148K		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	148					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GAAGCCAAAAGGAATAAGGTG	0.443000													11	92					0	0	0.001368	0	0
VEZF1	7716	broad.mit.edu	37	17	56051966	56051966	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:56051966G>A	ENST00000584396.1	-	6	1495	c.1407C>T	c.(1405-1407)caC>caT	p.H469H	VEZF1_ENST00000581208.1_Silent_p.H478H			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	478	4 X 7 AA repeats of P-[LV]-T-[IL]-T-[ST]- P.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						TGGTGACAGGGTGTGCTATAT	0.493000													7	52					0	0	0.001984	0	0
CHM	1121	broad.mit.edu	37	X	85218958	85218958	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:85218958G>C	ENST00000357749.2	-	5	443	c.414C>G	c.(412-414)ttC>ttG	p.F138L	CHM_ENST00000537751.1_5'UTR|CHM_ENST00000467744.1_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	138					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				CCGTAGGCAGGAAGGCAGAAT	0.468000													9	18					0	0	0.008291	0	0
EPHA3	2042	broad.mit.edu	37	3	89498473	89498473	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:89498473G>A	ENST00000336596.2	+	14	2670	c.2445G>A	c.(2443-2445)tgG>tgA	p.W815*	EPHA3_ENST00000494014.1_Nonsense_Mutation_p.W815*	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	815	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTGTTCTCTGGGAGGTGATGT	0.463000										TSP Lung(6;0.00050)			6	70					0	0	0.001984	0	0
LIPG	9388	broad.mit.edu	37	18	47101747	47101747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:47101747C>T	ENST00000261292.4	+	5	858	c.580C>T	c.(580-582)Cct>Tct	p.P194S	LIPG_ENST00000577628.1_Missense_Mutation_p.P230S|LIPG_ENST00000580036.1_Missense_Mutation_p.P194S|LIPG_ENST00000427224.2_Intron	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	194					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						AGGTTTGGATCCTGCCGGGCC	0.552000													5	20					0	0	0.001168	0	0
CHODL	140578	broad.mit.edu	37	21	19629030	19629030	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:19629030C>T	ENST00000299295.2	+	2	675	c.284C>T	c.(283-285)tCt>tTt	p.S95F	CHODL_ENST00000400127.1_Missense_Mutation_p.S54F|CHODL_ENST00000338326.3_Missense_Mutation_p.S54F|CHODL_ENST00000400131.1_Missense_Mutation_p.S54F|CHODL_ENST00000400128.1_Missense_Mutation_p.S54F|CHODL_ENST00000543733.1_Missense_Mutation_p.S76F|CHODL_ENST00000400135.1_Missense_Mutation_p.S54F	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	95	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		ACAGGGATTTCTGATGGTGAT	0.498000													13	81					0	0	0.002450	0	0
NLRP14	338323	broad.mit.edu	37	11	7059796	7059796	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:7059796G>A	ENST00000299481.4	+	2	325		c.e2-1			NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14						cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TCCCCCCACAGAGGCCTGAAT	0.338000													8	61					0	0	0.003080	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137867	63137867	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:63137867G>A	ENST00000279178.3	+	1	588	c.339G>A	c.(337-339)atG>atA	p.M113I	SLC22A9_ENST00000310969.4_Missense_Mutation_p.M113I	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	113					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ACGCAGACATGGAGCCCTGTG	0.522000													9	40					0	0	0.006214	0	0
CAPN11	11131	broad.mit.edu	37	6	44141081	44141081	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:44141081G>A	ENST00000398776.1	+	7	827	c.789G>A	c.(787-789)agG>agA	p.R263R	CAPN11_ENST00000542245.1_Silent_p.R263R	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	263	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCTCCTTAGGAAGGCCGTGG	0.597000													5	25					0	0	0.000602	0	0
NTRK2	4915	broad.mit.edu	37	9	87359893	87359893	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:87359893G>A	ENST00000304053.6	+	11	1684	c.1201G>A	c.(1201-1203)Gga>Aga	p.G401R	NTRK2_ENST00000376214.1_Missense_Mutation_p.G401R|NTRK2_ENST00000376208.1_Missense_Mutation_p.G401R|NTRK2_ENST00000359847.3_Missense_Mutation_p.G401R|NTRK2_ENST00000395866.2_Missense_Mutation_p.G245R|NTRK2_ENST00000323115.4_Missense_Mutation_p.G401R|NTRK2_ENST00000376213.1_Missense_Mutation_p.G401R|NTRK2_ENST00000395882.1_Missense_Mutation_p.G401R|NTRK2_ENST00000277120.3_Missense_Mutation_p.G401R	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	401					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TTAAGATTATGGAACTGCAGC	0.478000										TSP Lung(25;0.17)			7	97					0	0	0.003080	0	0
AGBL1	123624	broad.mit.edu	37	15	86940638	86940638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:86940638G>A	ENST00000441037.2	+	17	2373	c.2278G>A	c.(2278-2280)Gga>Aga	p.G760R	AGBL1_ENST00000421325.2_Missense_Mutation_p.G760R|AGBL1_ENST00000389298.3_Missense_Mutation_p.G491R	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	760					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGTTCATCCAGGAGAGAGCAA	0.433000													4	30					0	0	0.000248	0	0
ITIH1	3697	broad.mit.edu	37	3	52813605	52813605	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:52813605T>A	ENST00000273283.2	+	5	592	c.568T>A	c.(568-570)Ttt>Att	p.F190I	ITIH1_ENST00000540715.1_Missense_Mutation_p.F48I|ITIH1_ENST00000542827.1_Missense_Mutation_p.F190I	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	190					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GGTGCATCATTTTGAGGTAGA	0.532000													5	59					0	0	0.001168	0	0
ATF6	22926	broad.mit.edu	37	1	161928372	161928372	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:161928372C>T	ENST00000367942.3	+	16	2008	c.1941C>T	c.(1939-1941)acC>acT	p.T647T		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	647					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			AAACCAACACCTTCTTTGGCT	0.517000													6	110					0	0	0.003080	0	0
ZNF184	7738	broad.mit.edu	37	6	27419180	27419180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:27419180G>A	ENST00000211936.6	-	6	2442	c.2158C>T	c.(2158-2160)Cat>Tat	p.H720Y	ZNF184_ENST00000377419.1_Missense_Mutation_p.H720Y	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	720					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCTCCTGAATGAATTCTCTGG	0.398000													12	114					0	0	0.001368	0	0
PCDHA6	56142	broad.mit.edu	37	5	140207726	140207726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140207726C>T	ENST00000529310.1	+	1	164	c.50C>T	c.(49-51)cCg>cTg	p.P17L	PCDHA6_ENST00000527624.1_Missense_Mutation_p.P17L|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTCCTCCCGCTTCTGCTC	0.552000													8	75					0	0	0.003080	0	0
HPCA	3208	broad.mit.edu	37	1	33354677	33354677	+	Missense_Mutation	SNP	G	G	A	rs147332564		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:33354677G>A	ENST00000373467.3	+	2	280	c.178G>A	c.(178-180)Gac>Aac	p.D60N	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	60	EF-hand 2.						actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TCCCTATGGTGACGCCTCCAA	0.537000													6	66					0	0	0.003080	0	0
PHF3	23469	broad.mit.edu	37	6	64422810	64422810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:64422810C>T	ENST00000262043.3	+	16	5666	c.5326C>T	c.(5326-5328)Cct>Tct	p.P1776S	PHF3_ENST00000393387.1_Missense_Mutation_p.P1776S			Q92576	PHF3_HUMAN	PHD finger protein 3	1776					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATCAGAATTTCCTTCTAAAAG	0.423000													4	62					0	0	0.000602	0	0
PAPPA2	60676	broad.mit.edu	37	1	176758951	176758951	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:176758951C>T	ENST00000367662.3	+	18	5886	c.4722C>T	c.(4720-4722)ctC>ctT	p.L1574L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1574	Sushi 3.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCAGCAAGCTCCTGAAGATAC	0.428000													8	9					0	0	0.003080	0	0
PPP1R42	286187	broad.mit.edu	37	8	67925324	67925324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:67925324C>T	ENST00000522909.1	-	4	488	c.304G>A	c.(304-306)Gga>Aga	p.G102R	PPP1R42_ENST00000517834.1_5'UTR|PPP1R42_ENST00000324682.5_Missense_Mutation_p.G102R			Q7Z4L9	LRC67_HUMAN	protein phosphatase 1, regulatory subunit 42	102																	TAATTGCCTCCCAGATACCTG	0.383000													14	35					0	0	0.003163	0	0
DDX50	79009	broad.mit.edu	37	10	70673321	70673321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:70673321C>T	ENST00000373585.3	+	6	1039	c.932C>T	c.(931-933)tCc>tTc	p.S311F		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	311	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						ATTCATGAATCCTACAAAACT	0.313000													5	31					0	0	0.001168	0	0
OR4F17	81099	broad.mit.edu	37	19	110767	110767	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:110767G>A	ENST00000585993.1	+	2	228	c.89G>A	c.(88-90)gGa>gAa	p.G30E	OR4F17_ENST00000318050.3_Missense_Mutation_p.G30E			Q8NGA8	O4F17_HUMAN	olfactory receptor, family 4, subfamily F, member 17	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(2)	2		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCTATGGAGGAATCGTGTTT	0.413000													12	384					0	0	0.004990	0	0
CDCP2	200008	broad.mit.edu	37	1	54610311	54610311	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:54610311G>A	ENST00000371330.1	-	2	1102	c.255C>T	c.(253-255)ttC>ttT	p.F85F	RP11-446E24.4_ENST00000525949.1_5'UTR|RP11-446E24.4_ENST00000311841.7_3'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	85	CUB 1.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CCAGAAAGTCGAAGCTGCAGG	0.612000													9	26					0	0	0.008291	0	0
SHISA3	152573	broad.mit.edu	37	4	42403154	42403154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:42403154C>T	ENST00000319234.4	+	2	621	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	135					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						GCAGCCAATCCGCTTCTCACT	0.592000													16	198					0	0	0.008871	0	0
LRRC17	10234	broad.mit.edu	37	7	102574798	102574798	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:102574798G>A	ENST00000249377.4	+	2	719	c.438G>A	c.(436-438)gaG>gaA	p.E146E	FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron|LRRC17_ENST00000339431.4_Silent_p.E146E|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	146					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TCTTGACGGAGGAAGTGTTCA	0.433000													10	82					0	0	0.000978	0	0
OR2A2	442361	broad.mit.edu	37	7	143807483	143807483	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:143807483G>A	ENST00000408979.2	+	1	877	c.808G>A	c.(808-810)Gag>Aag	p.E270K		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AGAGGAGCAGGAGAAAATGCT	0.517000													27	135					0	0	0.005443	0	0
DDR1	780	broad.mit.edu	37	6	30864868	30864868	+	Silent	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:30864868T>A	ENST00000324771.8	+	16	2495	c.1947T>A	c.(1945-1947)ccT>ccA	p.P649P	DDR1_ENST00000454612.2_Silent_p.P612P|DDR1_ENST00000376575.3_Silent_p.P649P|DDR1_ENST00000361741.4_Silent_p.P316P|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376570.4_Silent_p.P612P|DDR1_ENST00000376567.2_Silent_p.P612P|DDR1_ENST00000376568.3_Silent_p.P649P|DDR1_ENST00000376569.3_Silent_p.P612P|DDR1_ENST00000418800.2_Silent_p.P612P|DDR1_ENST00000452441.1_Silent_p.P649P|DDR1_ENST00000508312.1_Silent_p.P630P|DDR1_ENST00000513240.1_Silent_p.P649P			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	649	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGGGACACCCTTTGCTGGTAG	0.537000													7	76					0	0	0.003080	0	0
IRS4	8471	broad.mit.edu	37	X	107978024	107978024	+	Silent	SNP	C	C	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:107978024C>G	ENST00000372129.2	-	1	1627	c.1551G>C	c.(1549-1551)tcG>tcC	p.S517S		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	517						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GGTTTCCTCCCGAGCTATGGC	0.597000													18	59					0	0	0.001523	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27539447	27539447	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:27539447C>T	ENST00000574842.1	+	0	716				LRRC37A6P_ENST00000284414.4_RNA																							ATTCAACCTCCCCAGAAGACT	0.577000													4	30					0	0	0.000248	0	0
FPR3	2359	broad.mit.edu	37	19	52327944	52327944	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:52327944C>T	ENST00000339223.4	+	2	1122	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	FPR3_ENST00000595991.1_Missense_Mutation_p.R315C	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	315					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.R315C(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						AAGACTGATTCGCTCTTTGCC	0.507000													7	58					0	0	0.003080	0	0
KCNK5	8645	broad.mit.edu	37	6	39162536	39162536	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:39162536C>T	ENST00000359534.3	-	3	637	c.298_splice	c.e3-1	p.G100_splice		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	100					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						ATTGCCATATCCTGAGGAAGG	0.557000													7	60					0	0	0.001984	0	0
HBD	3045	broad.mit.edu	37	11	5255235	5255235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:5255235G>A	ENST00000380299.3	-	2	515	c.301C>T	c.(301-303)Cct>Tct	p.P101S	HBD_ENST00000292901.3_Missense_Mutation_p.P101S	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	101					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGTTCTCAGGATCCACGTGC	0.478000													13	51					0	0	0.003163	0	0
BRINP2	57795	broad.mit.edu	37	1	177250216	177250216	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:177250216G>A	ENST00000361539.4	+	8	2216	c.1904G>A	c.(1903-1905)tGg>tAg	p.W635*	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		635						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GGGAATAGGTGGAAGACTTTC	0.498000													4	46					0	0	0.000602	0	0
NLRP4	147945	broad.mit.edu	37	19	56370434	56370434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:56370434G>A	ENST00000301295.6	+	3	2097	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K	NLRP4_ENST00000346986.5_Missense_Mutation_p.E559K|NLRP4_ENST00000587891.1_Missense_Mutation_p.E484K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	559							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTGTCTCTTTGAAATGCAGGA	0.473000													18	38					0	0	0.006122	0	0
TRAV4	28689	broad.mit.edu	37	14	22205105	22205105	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:22205105C>T	ENST00000390426.2	+	0	236																											CCAACAGTTTCCCAGCCAAGG	0.438000													4	28					0	0	0.000248	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106797680	106797680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:106797680C>T	ENST00000265717.4	+	10	1293	c.1034C>T	c.(1033-1035)tCg>tTg	p.S345L		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	345					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						GCTCGATGCTCGCGGGGACAG	0.458000													6	35					0	0	0.001168	0	0
FRMPD4	9758	broad.mit.edu	37	X	12627910	12627910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:12627910C>T	ENST00000380682.1	+	3	735	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	77					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCCGGCTCCTCGGAAGGTGGA	0.532000													12	32					0	0	0.001368	0	0
HIVEP2	3097	broad.mit.edu	37	6	143092446	143092446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:143092446G>A	ENST00000367603.2	-	5	4172	c.3430C>T	c.(3430-3432)Ccc>Tcc	p.P1144S	HIVEP2_ENST00000012134.2_Missense_Mutation_p.P1144S|HIVEP2_ENST00000367604.1_Missense_Mutation_p.P1144S	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTCAGCGGGGGACAAGGACCC	0.622000													5	43					0	0	0.000602	0	0
SLC47A1	55244	broad.mit.edu	37	17	19470507	19470507	+	Silent	SNP	C	C	T	rs34576017	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:19470507C>T	ENST00000270570.4	+	14	1361	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	SLC47A1_ENST00000436810.2_Silent_p.I402I|SLC47A1_ENST00000457293.1_Silent_p.I425I|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000395585.1_Silent_p.I425I|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000571335.1_Silent_p.I230I	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	425						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					CCATCGGGATCGCGCTGATGT	0.552000													11	85					0	0	0.008291	0	0
SEMA4D	10507	broad.mit.edu	37	9	91978697	91978697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:91978697C>T	ENST00000420987.1	-	18	2497	c.2051G>A	c.(2050-2052)gGg>gAg	p.G684E	SEMA4D_ENST00000469653.1_5'UTR|SEMA4D_ENST00000343780.4_Missense_Mutation_p.G684E|SEMA4D_ENST00000339861.4_Missense_Mutation_p.G684E|SEMA4D_ENST00000455551.2_Missense_Mutation_p.G684E|SEMA4D_ENST00000420101.2_Missense_Mutation_p.G69E	NM_001142287.1	NP_001135759.1	Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	0					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						AGTCTTGTTCCCTGCTGAGGA	0.527000													3	21					0	0	0.000248	0	0
AIFM3	150209	broad.mit.edu	37	22	21322194	21322194	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:21322194C>T	ENST00000335375.5	+	2	143	c.36C>T	c.(34-36)atC>atT	p.I12I	AIFM3_ENST00000440238.2_5'UTR|AIFM3_ENST00000333607.6_5'UTR|AIFM3_ENST00000399163.2_5'UTR|AIFM3_ENST00000399167.2_5'UTR|AIFM3_ENST00000405089.1_5'UTR					apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGCTCCCCATCTGTGCTCCTG	0.647000													5	38					0	0	0.001168	0	0
TCTN1	79600	broad.mit.edu	37	12	111085020	111085020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:111085020C>T	ENST00000551590.1	+	13	1655	c.1499C>T	c.(1498-1500)tCc>tTc	p.S500F	TCTN1_ENST00000377654.3_Silent_p.F246F|TCTN1_ENST00000397655.3_Missense_Mutation_p.S486F|TCTN1_ENST00000397659.4_Missense_Mutation_p.S505F|HVCN1_ENST00000548312.1_Intron			Q2MV58	TECT1_HUMAN	tectonic family member 1	500					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TTGCAGGATTCCTGCCAGCTC	0.388000													6	42					0	0	0.004482	0	0
AKAP13	11214	broad.mit.edu	37	15	86259039	86259039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:86259039C>T	ENST00000394518.2	+	20	5715	c.5620C>T	c.(5620-5622)Cct>Tct	p.P1874S	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.P119S|AKAP13_ENST00000361243.2_Missense_Mutation_p.P1878S	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1874					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CAAGGAGCGTCCTCGGTCCGC	0.532000													9	40					0	0	0.006214	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964615	32964615	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:32964615C>T	ENST00000321639.5	+	10	2647	c.2319C>T	c.(2317-2319)gtC>gtT	p.V773V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	773						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCAGCCCCGTCGTGCCACCCA	0.751000													4	15					0	0	0.000248	0	0
TDRD5	163589	broad.mit.edu	37	1	179609006	179609006	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:179609006G>A	ENST00000444136.1	+	10	1803	c.1553G>A	c.(1552-1554)cGa>cAa	p.R518Q	TDRD5_ENST00000367614.1_Missense_Mutation_p.R518Q|TDRD5_ENST00000294848.8_Missense_Mutation_p.R518Q	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	518					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GTTTCTGATCGATATGTCATG	0.383000													6	100					0	0	0.001168	0	0
CSF1R	1436	broad.mit.edu	37	5	149457738	149457738	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:149457738G>A	ENST00000286301.3	-	5	957	c.666C>T	c.(664-666)atC>atT	p.I222I	CSF1R_ENST00000543093.1_Silent_p.I222I	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	222	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CTGAGCACACGATCTGGGCAG	0.582000													8	52					0	0	0.004482	0	0
C1orf51	148523	broad.mit.edu	37	1	150256268	150256268	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:150256268G>A	ENST00000290363.5	+	2	869	c.420G>A	c.(418-420)ctG>ctA	p.L140L	C1orf51_ENST00000369095.1_Silent_p.L140L|C1orf51_ENST00000369094.1_Silent_p.L52L|C1orf51_ENST00000469255.1_Intron	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	140										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCAATGGGCTGAAGATGGGTC	0.403000													8	50					0	0	0.006214	0	0
FOXD4	2298	broad.mit.edu	37	9	117475	117475	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:117475G>A	ENST00000382500.2	-	1	942	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	215	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CAGGTAGAGGGAAGGGGTGGG	0.706000													15	127					0	0	0.006122	0	0
CSMD1	64478	broad.mit.edu	37	8	2830730	2830730	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:2830730G>A	ENST00000602557.1	-	58	9390	c.8835C>T	c.(8833-8835)ttC>ttT	p.F2945F	CSMD1_ENST00000602723.1_Silent_p.F2887F|CSMD1_ENST00000542608.1_Silent_p.F2886F|CSMD1_ENST00000520002.1_Silent_p.F2945F|CSMD1_ENST00000537824.1_Silent_p.F2944F|CSMD1_ENST00000400186.3_Silent_p.F2887F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2945	Sushi 22.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTTCACAGGAGAAGCGGAGAA	0.542000													14	71					0	0	0.002450	0	0
FLG2	388698	broad.mit.edu	37	1	152323257	152323257	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:152323257C>T	ENST00000388718.5	-	3	7077	c.7005G>A	c.(7003-7005)agG>agA	p.R2335R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2335							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGCCTTTGCCTTTCACTAC	0.473000													19	186					0	0	0.008871	0	0
ARMC8	25852	broad.mit.edu	37	3	137963936	137963936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:137963936C>T	ENST00000469044.1	+	12	1316	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	ARMC8_ENST00000485396.1_Missense_Mutation_p.H276Y|ARMC8_ENST00000481646.1_Missense_Mutation_p.H335Y|ARMC8_ENST00000358441.2_Missense_Mutation_p.H335Y|ARMC8_ENST00000393058.3_Missense_Mutation_p.H339Y|ARMC8_ENST00000538260.1_Missense_Mutation_p.H318Y|ARMC8_ENST00000491704.1_Missense_Mutation_p.H307Y|ARMC8_ENST00000471453.1_Missense_Mutation_p.H335Y|ARMC8_ENST00000461822.1_Missense_Mutation_p.H282Y|ARMC8_ENST00000470821.1_Missense_Mutation_p.H349Y|ARMC8_ENST00000489213.1_Missense_Mutation_p.H307Y	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	349							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						ATAGCTTGATCATGATTTAAA	0.388000													25	119					0	0	0.004656	0	0
THBS2	7058	broad.mit.edu	37	6	169623560	169623560	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:169623560C>T	ENST00000366787.3	-	19	3033	c.2784G>A	c.(2782-2784)cgG>cgA	p.R928R	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	928					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AAATATCACCCCGTCCATCAC	0.408000													4	47					0	0	0.000602	0	0
WBP11	51729	broad.mit.edu	37	12	14947951	14947951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:14947951G>A	ENST00000261167.2	-	6	708	c.475C>T	c.(475-477)Cct>Tct	p.P159S	WBP11_ENST00000537574.1_Missense_Mutation_p.P159S	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	159	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TGGGCACCAGGAAGTGGAATG	0.463000													12	100					0	0	0.004007	0	0
C12orf39	80763	broad.mit.edu	37	12	21679878	21679878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:21679878G>A	ENST00000256969.2	+	2	231	c.65G>A	c.(64-66)gGa>gAa	p.G22E		NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN	chromosome 12 open reading frame 39	22						extracellular region|nucleus|transport vesicle				endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						GTTTTCCTGGGAAACTCCAGC	0.438000													13	100					0	0	0.002450	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6374377	6374377	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:6374377C>T	ENST00000335585.5	-	5	521	c.498G>A	c.(496-498)agG>agA	p.R166R	PPP2R2C_ENST00000515571.1_Silent_p.R149R|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000506140.1_Silent_p.R159R|PPP2R2C_ENST00000382599.4_Silent_p.R166R|PPP2R2C_ENST00000507294.1_Silent_p.R159R	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	166					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TGGCAAAGATCCTCCGAGGGC	0.587000													9	83					0	0	0.006214	0	0
XRCC6BP1	91419	broad.mit.edu	37	12	58340857	58340857	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:58340857C>T	ENST00000300145.3	+	3	438	c.313C>T	c.(313-315)Cag>Tag	p.Q105*		NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	105					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						TTCAACATCTCAGGTAGGCAT	0.383000													9	48					0	0	0.006214	0	0
EPHA5	2044	broad.mit.edu	37	4	66509130	66509130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:66509130G>A	ENST00000273854.3	-	2	797	c.197C>T	c.(196-198)tCa>tTa	p.S66L	EPHA5_ENST00000354839.4_Missense_Mutation_p.S66L|EPHA5_ENST00000432638.2_Missense_Mutation_p.S66L|EPHA5_ENST00000511294.1_Missense_Mutation_p.S66L	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	66					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GACAGTGCGTGAATCCAATAA	0.313000										TSP Lung(17;0.13)			16	28					0	0	0.007413	0	0
PYGB	5834	broad.mit.edu	37	20	25257899	25257899	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:25257899C>T	ENST00000216962.4	+	7	902	c.792C>T	c.(790-792)atC>atT	p.I264I		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	264					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GAGACTACATCGAGGCGGTCC	0.562000													8	48					0	0	0.006214	0	0
ABCC9	10060	broad.mit.edu	37	12	21970121	21970121	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:21970121C>T	ENST00000261200.4	-	31	3891	c.3892_splice	c.e31+1	p.D1298_splice	ABCC9_ENST00000261201.4_Splice_Site_p.D1298_splice|ABCC9_ENST00000345162.2_Splice_Site_p.D1262_splice	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1298					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.D1298Y(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGAGCAATACCCATTGTGCCT	0.398000													12	131					0	0	0.002450	0	0
ASPN	54829	broad.mit.edu	37	9	95228677	95228677	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:95228677C>T	ENST00000375544.3	-	4	807	c.564G>A	c.(562-564)aaG>aaA	p.K188K	ASPN_ENST00000375543.1_Silent_p.K188K|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000395538.3_Silent_p.K188K	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN	asporin	188	Interaction with TGFB1 (By similarity).				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						TGAATGTGTCCTTTTGTATTT	0.318000													5	36					0	0	0.001168	0	0
ATP10D	57205	broad.mit.edu	37	4	47593145	47593145	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:47593145G>A	ENST00000273859.3	+	23	4297	c.4028G>A	c.(4027-4029)aGg>aAg	p.R1343K		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1343					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CCAGAGGAGAGGACTAAAGCT	0.458000													9	69					0	0	0.004482	0	0
DECR1	1666	broad.mit.edu	37	8	91031361	91031361	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:91031361C>G	ENST00000522161.1	+	6	1034	c.351C>G	c.(349-351)aaC>aaG	p.N117K	DECR1_ENST00000220764.2_Missense_Mutation_p.N126K|DECR1_ENST00000519007.1_3'UTR			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	126					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TGGTTCAAAACACTGTGTCAG	0.393000													6	38					0	0	0.001984	0	0
OR10C1	442194	broad.mit.edu	37	6	29408542	29408542	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:29408542C>T	ENST00000444197.2	+	1	1460	c.750C>T	c.(748-750)ttC>ttT	p.F250F	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCTCCCTCTTCTATGGCACCG	0.587000													21	221					0	0	0.003330	0	0
ZNF607	84775	broad.mit.edu	37	19	38190382	38190382	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:38190382C>T	ENST00000355202.4	-	5	1245	c.650G>A	c.(649-651)aGa>aAa	p.R217K	ZNF607_ENST00000395835.3_Missense_Mutation_p.R216K|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATAATGAAATCTATGATGTAC	0.423000													8	48					0	0	0.003080	0	0
CUL7	9820	broad.mit.edu	37	6	43018889	43018889	+	Silent	SNP	G	G	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:43018889G>T	ENST00000535468.1	-	4	1388	c.1302C>A	c.(1300-1302)tcC>tcA	p.S434S	CUL7_ENST00000265348.3_Silent_p.S350S	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	350	Interaction with TP53.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ACCTCCTGAAGGAGGGCTGAG	0.612000													10	85					2.27111e-07	2.57407e-07	0.001368	1	0
C15orf26	161502	broad.mit.edu	37	15	81428989	81428989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:81428989G>A	ENST00000286732.4	+	3	375	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	98								p.E98K(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GACTCCAGATGAAATTCAGTC	0.468000													7	63					0	0	0.001984	0	0
ABCC9	10060	broad.mit.edu	37	12	22048214	22048214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:22048214G>A	ENST00000261200.4	-	11	1653	c.1654C>T	c.(1654-1656)Ctt>Ttt	p.L552F	ABCC9_ENST00000261201.4_Missense_Mutation_p.L552F|ABCC9_ENST00000345162.2_Missense_Mutation_p.L552F	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	552	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTTACAGCAAGAACAGCTGCT	0.318000													4	39					0	0	0.000248	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403794	47403794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:47403794C>T	ENST00000310638.4	-	2	242	c.211G>A	c.(211-213)Gag>Aag	p.E71K	CYP4A11_ENST00000371904.4_Missense_Mutation_p.E71K|CYP4A11_ENST00000371905.1_Missense_Mutation_p.E71K|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	71					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CGTTGTAGCTCCTGGTCCTGT	0.502000													6	77					0	0	0.001984	0	0
PEX6	5190	broad.mit.edu	37	6	42942623	42942623	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:42942623G>A	ENST00000304611.8	-	2	1105	c.1036C>T	c.(1036-1038)Cag>Tag	p.Q346*	PEX6_ENST00000244546.4_Nonsense_Mutation_p.Q346*	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	346					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CTGGGTATCTGAAAGTGCCGG	0.478000													23	86					0	0	0.002780	0	0
MUC3A	4584	broad.mit.edu	37	7	100607867	100607867	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:100607867G>A	ENST00000319509.7	+	5	2014	c.2014G>A	c.(2014-2016)Gat>Aat	p.D672N	RP11-395B7.2_ENST00000420080.1_RNA					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CGCCAGCCAGGATGCGAACAG	0.672000													4	20					0	0	0.000602	0	0
ACKR2	1238	broad.mit.edu	37	3	42906138	42906138	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:42906138C>T	ENST00000422265.1	+	3	319	c.144C>T	c.(142-144)ttC>ttT	p.F48F	ACKR2_ENST00000442925.1_Silent_p.F48F|ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000273145.2_Silent_p.F48F|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		GCAAAGTCTTCCTCCCAGTCT	0.512000													14	102					0	0	0.003163	0	0
EPN1	29924	broad.mit.edu	37	19	56206615	56206615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:56206615C>T	ENST00000411543.2	+	11	2429	c.1882C>T	c.(1882-1884)Cct>Tct	p.P628S	EPN1_ENST00000270460.6_Missense_Mutation_p.P542S|EPN1_ENST00000085079.7_Missense_Mutation_p.P516S	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	542					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GCCTCCCGTCCCTGGAGCGCC	0.711000													3	9					0	0	0.000248	0	0
DMBT1	1755	broad.mit.edu	37	10	124402787	124402787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:124402787C>T	ENST00000338354.3	+	53	7221	c.7115C>T	c.(7114-7116)tCc>tTc	p.S2372F	DMBT1_ENST00000368956.2_Missense_Mutation_p.S1744F|DMBT1_ENST00000344338.3_Missense_Mutation_p.S2362F|DMBT1_ENST00000359586.6_Missense_Mutation_p.S1092F|DMBT1_ENST00000368955.3_Missense_Mutation_p.S2362F|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1744F|DMBT1_ENST00000368909.3_Missense_Mutation_p.S2372F			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2372	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GACCCCTCTTCCCGCTGCTAC	0.602000													8	59					0	0	0.006214	0	0
ELAC2	60528	broad.mit.edu	37	17	12901800	12901800	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:12901800G>A	ENST00000338034.4	-	16	1688	c.1449C>T	c.(1447-1449)atC>atT	p.I483I	ELAC2_ENST00000395962.2_Silent_p.I464I|ELAC2_ENST00000426905.3_Silent_p.I443I	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	483					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CAAGGAAGATGATTTCTGGGT	0.458000													7	30					0	0	0.004482	0	0
ROS1	6098	broad.mit.edu	37	6	117708132	117708132	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:117708132T>C	ENST00000368508.3	-	14	2243	c.2045A>G	c.(2044-2046)aAa>aGa	p.K682R	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.K677R	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	682					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCCATCTTCTTTCACAGCCAT	0.368000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								8	63					0	0	0.006214	0	0
PSG2	5670	broad.mit.edu	37	19	43579707	43579707	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:43579707C>T	ENST00000406487.1	-	3	606	c.508G>A	c.(508-510)Gat>Aat	p.D170N		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	170	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GTCTCAGGATCACAGGTTAAG	0.517000													15	126					0	0	0.004990	0	0
OR4C15	81309	broad.mit.edu	37	11	55322305	55322305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:55322305C>T	ENST00000314644.2	+	1	523	c.523C>T	c.(523-525)Cgt>Tgt	p.R175C		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GGCCTATGATCGTTATGTGGC	0.507000										HNSCC(20;0.049)			10	71					0	0	0.001368	0	0
PRB3	5544	broad.mit.edu	37	12	11420937	11420937	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:11420937G>A	ENST00000381842.3	-	0	283				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTCCTTGTGGGGGTGGTCCTT	0.627000													41	206					0	0	0.003610	0	0
DAXX	1616	broad.mit.edu	37	6	33289562	33289562	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:33289562G>A	ENST00000374542.5	-	2	345	c.141C>T	c.(139-141)gcC>gcT	p.A47A	DAXX_ENST00000414083.2_Intron|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Silent_p.A47A	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	47	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGCTTCCTCTGGCCCCATGAG	0.587000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								37	196					0	0	0.007835	0	0
IFITM3	10410	broad.mit.edu	37	11	319853	319853	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:319853G>A	ENST00000399808.4	-	2	623	c.387C>T	c.(385-387)ttC>ttT	p.F129F	RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000526811.1_Silent_p.F108F|IFITM3_ENST00000602735.1_Silent_p.F108F|RP11-326C3.11_ENST00000602756.1_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	129					response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CATAGGCCTGGAAGATCAGCA	0.587000													6	42					0	0	0.004482	0	0
ABL2	27	broad.mit.edu	37	1	179078468	179078468	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:179078468G>A	ENST00000502732.1	-	12	2137	c.1934C>T	c.(1933-1935)aCc>aTc	p.T645I	ABL2_ENST00000511413.1_Missense_Mutation_p.T645I|ABL2_ENST00000344730.3_Missense_Mutation_p.T630I|ABL2_ENST00000408940.3_Missense_Mutation_p.T609I|ABL2_ENST00000504405.1_Missense_Mutation_p.T609I|ABL2_ENST00000512653.1_Missense_Mutation_p.T630I|ABL2_ENST00000507173.1_Missense_Mutation_p.T624I|ABL2_ENST00000367623.4_Missense_Mutation_p.T624I	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	645					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCTATCCCTGGTGAAGCATGT	0.537000			T	ETV6	AML								17	129					0	0	0.004007	0	0
NUAK1	9891	broad.mit.edu	37	12	106460825	106460825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:106460825C>T	ENST00000261402.2	-	7	3120	c.1741G>A	c.(1741-1743)Gac>Aac	p.D581N		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	581							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TCAAAAGAGTCGCTGGACAGC	0.597000													5	26					0	0	0.000602	0	0
RBM18	92400	broad.mit.edu	37	9	125014198	125014198	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:125014198G>A	ENST00000417201.3	-	3	308	c.168C>T	c.(166-168)ttC>ttT	p.F56F	RBM18_ENST00000483428.1_5'UTR	NM_033117.3	NP_149108.1	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	56	RRM.						nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						TGTGGAAGAGGAAGTCAAACT	0.443000													8	58					0	0	0.003080	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418955	105418955	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:105418955G>A	ENST00000333244.5	-	7	2952	c.2833C>T	c.(2833-2835)Ctg>Ttg	p.L945L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	945						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCTTTCAGGTCCAGCTTG	0.607000													37	159					0	0	0.008740	0	0
IFNLR1	163702	broad.mit.edu	37	1	24484345	24484345	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:24484345G>A	ENST00000327535.1	-	7	850	c.838C>T	c.(838-840)Cag>Tag	p.Q280*	IFNLR1_ENST00000327575.2_Missense_Mutation_p.S236L|IFNLR1_ENST00000374421.3_Intron	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		CTGCTGGGCTGAAAGGTTGCC	0.522000													12	96					0	0	0.001855	0	0
RBP3	5949	broad.mit.edu	37	10	48388840	48388840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:48388840C>T	ENST00000224600.4	-	1	2151	c.2038G>A	c.(2038-2040)Gag>Aag	p.E680K		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	680	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCCAGAGACTCCAAGTCCACA	0.662000													4	35					0	0	0.000248	0	0
KCNJ8	3764	broad.mit.edu	37	12	21919242	21919242	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:21919242G>A	ENST00000240662.2	-	3	1035	c.690C>T	c.(688-690)gtC>gtT	p.V230V	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	230						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	TTGTTTTCTTGACCACCTGGA	0.493000													14	72					0	0	0.003163	0	0
ATP2B1	490	broad.mit.edu	37	12	89985051	89985051	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:89985051G>A	ENST00000428670.3	-	21	3829	c.3373C>T	c.(3373-3375)Cgt>Tgt	p.R1125C	RP11-981P6.1_ENST00000552778.1_RNA|ATP2B1_ENST00000393164.2_Missense_Mutation_p.R868C|ATP2B1_ENST00000359142.3_Missense_Mutation_p.S1176L|ATP2B1_ENST00000261173.2_Missense_Mutation_p.R1125C|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R1089C			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1163	Calmodulin-binding subdomain B.				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AAAGAACTACGAAATGCATTC	0.333000													4	18					0	0	0.000248	0	0
GCOM1	145781	broad.mit.edu	37	15	57913875	57913875	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:57913875C>T	ENST00000574161.1	+	4	507	c.388C>T	c.(388-390)Cga>Tga	p.R130*	GCOM1_ENST00000396180.1_Intron|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.R130*|GCOM1_ENST00000380568.3_Nonsense_Mutation_p.R130*|MYZAP_ENST00000380565.4_Nonsense_Mutation_p.R130*|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.R130*|GCOM1_ENST00000572390.1_Nonsense_Mutation_p.R130*|MYZAP_ENST00000267853.5_Nonsense_Mutation_p.R130*	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		130					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						ACAGAAGATTCGACAGCTCAC	0.473000													7	114					0	0	0.003080	0	0
NDST4	64579	broad.mit.edu	37	4	115767065	115767065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:115767065G>A	ENST00000264363.2	-	10	2707	c.2029C>T	c.(2029-2031)Cca>Tca	p.P677S		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	677	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GCTCGTCTTGGAGCTTCTTCC	0.458000													19	53					0	0	0.008871	0	0
IL5RA	3568	broad.mit.edu	37	3	3139668	3139668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:3139668G>A	ENST00000446632.2	-	7	1169	c.595C>T	c.(595-597)Ccc>Tcc	p.P199S	IL5RA_ENST00000456302.1_Missense_Mutation_p.P199S|IL5RA_ENST00000430514.2_Missense_Mutation_p.P199S|IL5RA_ENST00000418488.2_Missense_Mutation_p.P199S|IL5RA_ENST00000256452.3_Missense_Mutation_p.P199S|IL5RA_ENST00000311981.8_Missense_Mutation_p.P199S|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000438560.1_Missense_Mutation_p.P199S|IL5RA_ENST00000383846.1_Missense_Mutation_p.P199S	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	199					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AAAGTCCTGGGAAACCAGCAT	0.478000													4	43					0	0	0.000248	0	0
OR5L1	219437	broad.mit.edu	37	11	55579077	55579077	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:55579077G>A	ENST00000333973.2	+	1	224	c.135G>A	c.(133-135)atG>atA	p.M45I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M45I(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ACCTGGGCATGATTGCACTGA	0.488000													12	169					0	0	0.000978	0	0
GOLPH3L	55204	broad.mit.edu	37	1	150621176	150621176	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:150621176C>T	ENST00000271732.3	-	5	523	c.479G>A	c.(478-480)cGa>cAa	p.R160Q	GOLPH3L_ENST00000540514.1_Missense_Mutation_p.R116Q	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	160						Golgi cisterna membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GATGCGCTCTCGTACATTTCT	0.398000													5	62					0	0	0.001168	0	0
FCRL6	343413	broad.mit.edu	37	1	159778082	159778082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:159778082G>A	ENST00000321935.6	+	4	274	c.188G>A	c.(187-189)gGa>gAa	p.G63E	FCRL6_ENST00000392235.3_Missense_Mutation_p.G56E|FCRL6_ENST00000339348.5_Missense_Mutation_p.G56E|FCRL6_ENST00000368106.3_Missense_Mutation_p.G56E			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	56	Ig-like C2-type 1.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					TACAGAGATGGAAAATTCCTT	0.507000													4	27					0	0	0.000248	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677345	37677345	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:37677345T>C	ENST00000532828.2	-	5	1345	c.1094A>G	c.(1093-1095)tAc>tGc	p.Y365C	ZNF585B_ENST00000531805.1_Missense_Mutation_p.Y310C|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTGACCTGTAGGTAAAGGC	0.428000													4	49					0	0	0.004482	0	0
TAGAP	117289	broad.mit.edu	37	6	159463277	159463277	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:159463277C>T	ENST00000367066.3	-	5	480		c.e5-1		RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Intron|TAGAP_ENST00000338313.5_Splice_Site|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTCTTAACTTCTACAGCCAAG	0.448000													19	90					0	0	0.001882	0	0
SEC31B	25956	broad.mit.edu	37	10	102257867	102257867	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:102257867G>A	ENST00000370345.3	-	15	1879	c.1782C>T	c.(1780-1782)atC>atT	p.I594I	SEC31B_ENST00000494350.1_5'UTR	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	594					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CCTGGGCCAGGATAATGGCAT	0.552000													7	52					0	0	0.003080	0	0
SDF4	51150	broad.mit.edu	37	1	1164002	1164002	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:1164002G>A	ENST00000263741.7	-	2	464	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	SDF4_ENST00000360001.6_Missense_Mutation_p.P58S|SDF4_ENST00000459994.2_5'UTR|SDF4_ENST00000545427.1_Missense_Mutation_p.P58S	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	58					cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		TGGTCTGGGGGCAGGATCTCA	0.617000													8	39					0	0	0.004482	0	0
BAI1	575	broad.mit.edu	37	8	143569733	143569733	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:143569733A>G	ENST00000517894.1	+	14	3211	c.2317A>G	c.(2317-2319)Atc>Gtc	p.I773V	BAI1_ENST00000323289.5_Missense_Mutation_p.I773V			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	773					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGTTCTCAGCATCCATAAGCT	0.637000													26	66					0	0	0.008361	0	0
RASSF9	9182	broad.mit.edu	37	12	86198920	86198920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:86198920C>T	ENST00000361228.3	-	2	1236	c.868G>A	c.(868-870)Gag>Aag	p.E290K		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	290					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTTTTACCTCTTTTTCTATT	0.393000													16	107					0	0	0.003163	0	0
MDH1B	130752	broad.mit.edu	37	2	207613758	207613758	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:207613758C>T	ENST00000374412.3	-	7	1477	c.1202G>A	c.(1201-1203)gGa>gAa	p.G401E	MDH1B_ENST00000392214.2_Missense_Mutation_p.G188E|MDH1B_ENST00000454776.2_Missense_Mutation_p.G401E|MDH1B_ENST00000449792.1_Missense_Mutation_p.G303E	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	401					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		ACTCAATATTCCTAAAGATAC	0.413000													8	34					0	0	0.006214	0	0
MPDU1	9526	broad.mit.edu	37	17	7487252	7487252	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:7487252C>T	ENST00000250124.6	+	1	288	c.72C>T	c.(70-72)gaC>gaT	p.D24D	MPDU1_ENST00000423172.2_Silent_p.D24D|AC113189.5_ENST00000417897.1_RNA|AC113189.5_ENST00000415124.1_RNA|MPDU1_ENST00000396501.4_Silent_p.D24D|MPDU1_ENST00000582151.1_Silent_p.D24D	NM_004870.3	NP_004861.2	O75352	MPU1_HUMAN	mannose-P-dolichol utilization defect 1	24					dolichol-linked oligosaccharide biosynthetic process|protein folding	endoplasmic reticulum membrane|integral to membrane|mitochondrion	protein binding			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1)	7						AATGCTACGACCAACTTTTCG	0.532000													19	112					0	0	0.007413	0	0
AZU1	566	broad.mit.edu	37	19	828240	828240	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:828240C>T	ENST00000233997.2	+	2	90	c.69C>T	c.(67-69)ccC>ccT	p.P23P		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	23					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCAGCCCCCTTTTGGACA	0.647000													6	86					0	0	0.001168	0	0
NOC2L	26155	broad.mit.edu	37	1	881016	881016	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:881016G>A	ENST00000327044.6	-	17	1984	c.1935C>T	c.(1933-1935)ttC>ttT	p.F645F		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	645	Asp/Glu-rich (acidic).					nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TGATCTCAGGGAAGTTCAGGT	0.572000													5	74					0	0	0.001168	0	0
COL3A1	1281	broad.mit.edu	37	2	189859818	189859818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:189859818G>A	ENST00000304636.3	+	21	1672	c.1502G>A	c.(1501-1503)gGa>gAa	p.G501E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G501E	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	501	Triple-helical region.		G -> R (in EDS4).		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGCATCCCAGGAGAAAAGGTA	0.388000													5	50					0	0	0.000602	0	0
KCNK5	8645	broad.mit.edu	37	6	39162519	39162519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:39162519G>A	ENST00000359534.3	-	3	654	c.316C>T	c.(316-318)Ccc>Tcc	p.P106S		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	106					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GGGGTCTTGGGAGCCACATTG	0.597000													5	61					0	0	0.001984	0	0
ANLN	54443	broad.mit.edu	37	7	36446171	36446171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:36446171C>T	ENST00000265748.2	+	4	1090	c.869C>T	c.(868-870)tCt>tTt	p.S290F	ANLN_ENST00000396068.2_Missense_Mutation_p.S290F|ANLN_ENST00000495714.1_3'UTR	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	290	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						ATTTCCAGCTCTGTGGTAAGT	0.428000													10	165					0	0	0.000978	0	0
SULT6B1	391365	broad.mit.edu	37	2	37414600	37414600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:37414600C>T	ENST00000535679.1	-	2	209	c.210G>A	c.(208-210)tgG>tgA	p.W70*	SULT6B1_ENST00000407963.1_Nonsense_Mutation_p.W32*|SULT6B1_ENST00000379149.2_Nonsense_Mutation_p.W70*|SULT6B1_ENST00000260637.3_Nonsense_Mutation_p.W32*			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	70						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TGTGGAGAATCCAGTTTGAAC	0.294000													4	17					0	0	0.000248	0	0
OR10H1	26539	broad.mit.edu	37	19	15918161	15918161	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:15918161G>A	ENST00000334920.2	-	1	775	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I229M(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CAGCAGAAGGGATCTTCAAGA	0.567000													4	37					0	0	0.003080	0	0
MYH1	4619	broad.mit.edu	37	17	10400471	10400471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10400471C>T	ENST00000226207.5	-	33	4665	c.4571G>A	c.(4570-4572)gGa>gAa	p.G1524E	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1524						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GATGCGCTTTCCTCCTTCTGC	0.368000													4	30					0	0	0.000602	0	0
ZGLP1	100125288	broad.mit.edu	37	19	10418878	10418878	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:10418878C>T	ENST00000403903.3	-	1	1678	c.480G>A	c.(478-480)caG>caA	p.Q160Q	ZGLP1_ENST00000403352.1_Silent_p.Q76Q|FDX1L_ENST00000541276.1_3'UTR|CTD-2369P2.10_ENST00000452032.2_3'UTR	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	160					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						TGGGGATGATCTGCAGGCTGG	0.632000													12	68					0	0	0.002450	0	0
COL1A1	1277	broad.mit.edu	37	17	48271742	48271742	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:48271742G>A	ENST00000225964.5	-	23	1700	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	528	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TCACCGGGACGACCAGCTTCA	0.637000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						11	53					0	0	0.008291	0	0
SLC26A8	116369	broad.mit.edu	37	6	35927554	35927554	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:35927554G>A	ENST00000490799.1	-	15	2021	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F	SLC26A8_ENST00000355574.2_Silent_p.F556F|SLC26A8_ENST00000394602.2_Silent_p.F451F	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	556	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGCAGCACTGGAAGATTTTCA	0.393000													18	79					0	0	0.006122	0	0
SERPINB8	5271	broad.mit.edu	37	18	61649006	61649006	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:61649006T>A	ENST00000397985.2	+	4	614	c.358T>A	c.(358-360)Tcc>Acc	p.S120T	SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000353706.2_Missense_Mutation_p.S120T|HMSD_ENST00000481726.1_3'UTR|SERPINB8_ENST00000397988.3_Missense_Mutation_p.S120T	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	120					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				GGAGGAGTTGTCCTTTGCTGA	0.418000													9	79					0	0	0.004482	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049344	42049344	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:42049344G>A	ENST00000372584.1	-	3	2139	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	HIVEP3_ENST00000429157.2_Silent_p.I375I|HIVEP3_ENST00000372583.1_Silent_p.I375I|HIVEP3_ENST00000247584.5_Silent_p.I375I	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	375	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCTGCTCATCGATCACCTTCT	0.562000													11	60					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179610943	179610943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179610943G>A	ENST00000360870.5	-	46	16406	c.16184C>T	c.(16183-16185)tCa>tTa	p.S5395L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8903	Ig-like 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACAGCATCTGAATTTTCTGG	0.338000													12	30					0	0	0.000978	0	0
COL4A1	1282	broad.mit.edu	37	13	110864929	110864929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:110864929C>T	ENST00000375820.4	-	5	437	c.316G>A	c.(316-318)Gga>Aga	p.G106R	COL4A1_ENST00000543140.1_Missense_Mutation_p.G106R	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	106					angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ACGGGAAGTCCTGGGTTTCCA	0.493000													7	60					0	0	0.003080	0	0
KIF25	3834	broad.mit.edu	37	6	168445543	168445543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:168445543C>T	ENST00000443060.2	+	10	1413	c.1022C>T	c.(1021-1023)tCt>tTt	p.S341F	KIF25_ENST00000351261.3_Missense_Mutation_p.S289F|KIF25_ENST00000354419.2_Missense_Mutation_p.S341F			Q9UIL4	KIF25_HUMAN	kinesin family member 25	341					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTCTGCATTTCTCCCAGCCAG	0.552000													14	78					0	0	0.002450	0	0
SMARCA2	6595	broad.mit.edu	37	9	2076262	2076262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:2076262G>A	ENST00000382203.1	+	13	2178	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K	SMARCA2_ENST00000382194.1_Missense_Mutation_p.E657K|SMARCA2_ENST00000349721.2_Missense_Mutation_p.E657K|SMARCA2_ENST00000357248.2_Missense_Mutation_p.E657K			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	657					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GCAGGAAACCGAAGAGAAAAT	0.378000													5	55					0	0	0.003080	0	0
DQX1	165545	broad.mit.edu	37	2	74751156	74751156	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:74751156C>T	ENST00000404568.3	-	4	929	c.710G>A	c.(709-711)tGg>tAg	p.W237*	DQX1_ENST00000393951.2_Nonsense_Mutation_p.W237*|DQX1_ENST00000495597.1_5'UTR	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	237						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GATGGTGTCCCAGTAGATGGG	0.557000													9	37					0	0	0.000978	0	0
SEPT5	5413	broad.mit.edu	37	22	19707342	19707342	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:19707342G>A	ENST00000438754.2	+	3	472	c.192G>A	c.(190-192)ctG>ctA	p.L64L	SEPT5_ENST00000406395.1_Silent_p.L55L|SEPT5_ENST00000455784.2_Silent_p.L55L|SEPT5_ENST00000383045.3_Silent_p.L64L	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	55					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					AGTCAGGCCTGGGGAAGTCCA	0.627000													13	94					0	0	0.006122	0	0
SRGAP3	9901	broad.mit.edu	37	3	9027564	9027564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:9027564C>T	ENST00000383836.3	-	22	3366	c.2939G>A	c.(2938-2940)aGg>aAg	p.R980K	SRGAP3_ENST00000360413.3_Missense_Mutation_p.R956K	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	980					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CGTGTTCTGCCTCTCGAGTTC	0.647000			T	RAF1	pilocytic astrocytoma								4	31					0	0	0.000602	0	0
ANO2	57101	broad.mit.edu	37	12	5915235	5915235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:5915235C>T	ENST00000356134.5	-	10	1035	c.964G>A	c.(964-966)Gat>Aat	p.D322N	ANO2_ENST00000327087.8_Missense_Mutation_p.D321N|ANO2_ENST00000546188.1_Missense_Mutation_p.D322N	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	326						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCATTCATATCGTCCTCTGGA	0.478000													6	40					0	0	0.001984	0	0
PIEZO2	63895	broad.mit.edu	37	18	10696185	10696185	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:10696185C>T	ENST00000302079.6	-	43	6737	c.6738G>A	c.(6736-6738)gtG>gtA	p.V2246V	PIEZO2_ENST00000538948.1_Silent_p.V203V|PIEZO2_ENST00000503781.3_Silent_p.V2246V|PIEZO2_ENST00000580640.1_Silent_p.V2271V|PIEZO2_ENST00000285141.4_Silent_p.V101V			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2246						integral to membrane	ion channel activity										GGGCTCGGTCCACCACCATGG	0.512000													9	28					0	0	0.004482	0	0
PREX1	57580	broad.mit.edu	37	20	47274764	47274764	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:47274764G>A	ENST00000396220.1	-	17	1906	c.1884C>T	c.(1882-1884)atC>atT	p.I628I	PREX1_ENST00000371941.3_Silent_p.I628I			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	628	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCTGGGGCAGGATCTGGGGGC	0.662000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	121					0	0	0.000978	0	0
RUSC2	9853	broad.mit.edu	37	9	35560433	35560433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:35560433G>A	ENST00000455600.1	+	10	4365	c.3796G>A	c.(3796-3798)Ggg>Agg	p.G1266R		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1266						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCCGAGGTGGGCAGGCCGG	0.632000													5	50					0	0	0.001168	0	0
TG	7038	broad.mit.edu	37	8	133981775	133981775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:133981775G>A	ENST00000220616.4	+	32	5976	c.5936G>A	c.(5935-5937)aGa>aAa	p.R1979K	TG_ENST00000542445.1_Missense_Mutation_p.R349K|TG_ENST00000377869.1_Missense_Mutation_p.R1922K|TG_ENST00000519543.1_Missense_Mutation_p.R133K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1979			R -> W (polymorphism associated with AITD3).		hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATATCCATTAGAAATAAAGTG	0.348000													7	124					0	0	0.001984	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37536824	37536824	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:37536824G>A	ENST00000299824.1	+	10	1371	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E	PPP1R16B_ENST00000373331.2_Silent_p.E352E	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	394					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAGACCAAGAGAATAAGGACC	0.602000													4	22					0	0	0.000248	0	0
MUC16	94025	broad.mit.edu	37	19	9072101	9072101	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:9072101C>T	ENST00000397910.4	-	3	15548	c.15345G>A	c.(15343-15345)aaG>aaA	p.K5115K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5117	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAAAATTTCCTTTGTGTCTT	0.443000													13	56					0	0	0.001368	0	0
ONECUT2	9480	broad.mit.edu	37	18	55103799	55103799	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:55103799C>T	ENST00000491143.2	+	1	883	c.851C>T	c.(850-852)cCa>cTa	p.P284L		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	284					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CTGGGCACCCCACCTGCGGCC	0.701000													5	58					0	0	0.003080	0	0
HCK	3055	broad.mit.edu	37	20	30681801	30681801	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:30681801G>A	ENST00000534862.1	+	12	1531	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	HCK_ENST00000520553.1_Missense_Mutation_p.E389K|HCK_ENST00000538448.1_Missense_Mutation_p.E389K|HCK_ENST00000518730.1_Missense_Mutation_p.E388K|HCK_ENST00000375862.2_Missense_Mutation_p.E409K|HCK_ENST00000375852.2_Missense_Mutation_p.E410K	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	410	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.E389K(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGAGGACAACGAGTACACGGC	0.552000													5	81					0	0	0.001168	0	0
KRT76	51350	broad.mit.edu	37	12	53170973	53170973	+	Missense_Mutation	SNP	G	G	A	rs145777357	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:53170973G>A	ENST00000332411.2	-	1	156	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	35	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCCCAGAGCGGGCCACACAG	0.612000													5	46					0	0	0.001168	0	0
OR10J3	441911	broad.mit.edu	37	1	159283796	159283796	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:159283796G>A	ENST00000332217.5	-	1	653	c.654C>T	c.(652-654)tcC>tcT	p.S218S		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TGAGGACATAGGAGATAAAGA	0.502000													8	64					0	0	0.004482	0	0
ERO1L	30001	broad.mit.edu	37	14	53149100	53149100	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:53149100G>A	ENST00000395686.3	-	3	484	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	87					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					TGTCATTCCAGAAAGGACACG	0.328000													13	50					0	0	0.004007	0	0
TEX14	56155	broad.mit.edu	37	17	56693624	56693624	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:56693624G>A	ENST00000389934.3	-	7	796	c.679C>T	c.(679-681)Ctt>Ttt	p.L227F	TEX14_ENST00000349033.5_Missense_Mutation_p.L227F|TEX14_ENST00000240361.8_Missense_Mutation_p.L233F	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	233	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGACCGGAAGAGATCCTAGA	0.488000													17	50					0	0	0.007413	0	0
FAM161B	145483	broad.mit.edu	37	14	74411155	74411155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:74411155C>T	ENST00000286544.3	-	3	1195	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	FAM161B_ENST00000534936.1_Missense_Mutation_p.E270K	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CGAGCAGCTTCCTTTAGCTGC	0.567000													7	43					0	0	0.001984	0	0
MISP	126353	broad.mit.edu	37	19	758707	758707	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:758707G>A	ENST00000215582.6	+	2	1864	c.1761G>A	c.(1759-1761)agG>agA	p.R587R		NM_173481.2	NP_775752.1			mitotic spindle positioning																		AGAACTCCAGGAGCTCCTCCC	0.622000													4	24					0	0	0.001168	0	0
PPFIA1	8500	broad.mit.edu	37	11	70189920	70189920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:70189920C>T	ENST00000253925.7	+	15	2068	c.1853C>T	c.(1852-1854)tCg>tTg	p.S618L	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.S618L	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	618					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GACCTGCTATCGCCCAGCGGG	0.547000													4	19					0	0	0.000248	0	0
VEZF1	7716	broad.mit.edu	37	17	56051965	56051965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:56051965G>A	ENST00000584396.1	-	6	1496	c.1408C>T	c.(1408-1410)Cct>Tct	p.P470S	VEZF1_ENST00000581208.1_Missense_Mutation_p.P479S			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	479	4 X 7 AA repeats of P-[LV]-T-[IL]-T-[ST]- P.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ATGGTGACAGGGTGTGCTATA	0.493000													6	53					0	0	0.001168	0	0
OR9K2	441639	broad.mit.edu	37	12	55523632	55523632	+	Missense_Mutation	SNP	G	G	A	rs139798501		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:55523632G>A	ENST00000305377.5	+	1	168	c.80G>A	c.(79-81)gGa>gAa	p.G27E		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						GGTGACAGGGGAACAAGCAAT	0.423000													16	63					0	0	0.004990	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54917219	54917219	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:54917219G>A	ENST00000293373.6	+	19	1999	c.1920G>A	c.(1918-1920)aaG>aaA	p.K640K	NCKAP1L_ENST00000545638.2_Silent_p.K590K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	640					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GCAAAGCCAAGAACAAGAAAA	0.498000													20	118					0	0	0.002780	0	0
EPS15L1	58513	broad.mit.edu	37	19	16545263	16545263	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:16545263G>A	ENST00000597937.1	-	7	415	c.411C>T	c.(409-411)agC>agT	p.S137S	EPS15L1_ENST00000248070.6_Silent_p.S137S|EPS15L1_ENST00000535753.2_Silent_p.S137S|EPS15L1_ENST00000602009.1_5'UTR|EPS15L1_ENST00000455140.2_Silent_p.S137S|EPS15L1_ENST00000594975.1_Silent_p.S137S	NM_001258376.1	NP_001245305.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	137	EH 2.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TGGGCAAGAGGCTTTCAAAAA	0.488000													12	105					0	0	0.001855	0	0
PUS7	54517	broad.mit.edu	37	7	105142951	105142951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:105142951G>A	ENST00000356362.2	-	5	860	c.646C>T	c.(646-648)Cca>Tca	p.P216S	PUS7_ENST00000469408.1_Missense_Mutation_p.P216S	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	216					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TCTAATCCTGGAAACAGAGAT	0.418000													9	75					0	0	0.004482	0	0
EOMES	8320	broad.mit.edu	37	3	27761750	27761750	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:27761750G>A	ENST00000295743.4	-	2	1151	c.948C>T	c.(946-948)ttC>ttT	p.F316F	EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000449599.1_Silent_p.F316F|EOMES_ENST00000537516.1_Silent_p.F21F			O95936	EOMES_HUMAN	eomesodermin	316					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.F316F(2)|p.F316L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						CCACCTCTACGAACACATTGT	0.512000													16	84					0	0	0.004007	0	0
TMC3	342125	broad.mit.edu	37	15	81625006	81625006	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:81625006G>A	ENST00000558726.1	-	22	3195	c.3060C>T	c.(3058-3060)ttC>ttT	p.F1020F	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Silent_p.F1019F|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	1019						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GTGGGTATTGGAAATTCCGGG	0.582000													7	31					0	0	0.006214	0	0
GPR179	440435	broad.mit.edu	37	17	36485191	36485191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:36485191C>T	ENST00000342292.4	-	11	4281	c.4261G>A	c.(4261-4263)Gga>Aga	p.G1421R		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1421						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AAGTCTCCTCCCGGTTTCTGT	0.537000													11	54					0	0	0.001368	0	0
S100A7L2	645922	broad.mit.edu	37	1	153409698	153409698	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:153409698C>T	ENST00000368725.2	-	3	174	c.174_splice	c.e3-1	p.E59_splice		NM_001045479.1	NP_001038944.2			S100 calcium binding protein A7-like 2											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCGCTTTTTTCCTGCATGGAG	0.388000													13	36					0	0	0.002450	0	0
IL1R2	7850	broad.mit.edu	37	2	102638677	102638677	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:102638677C>T	ENST00000332549.3	+	6	946	c.717C>T	c.(715-717)atC>atT	p.I239I	IL1R2_ENST00000441002.1_Silent_p.I239I|IL1R2_ENST00000393414.2_Silent_p.I239I	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	239	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TTCCTGTGATCATTTCCCCCC	0.483000													20	178					0	0	0.002299	0	0
PPP2R3B	28227	broad.mit.edu	37	X	295189	295189	+	Missense_Mutation	SNP	C	C	G	rs143890778	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:295189C>G	ENST00000390665.3	-	13	1659	c.1641G>C	c.(1639-1641)caG>caC	p.Q547H		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	547					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGAAGGGCCTCTGGGCCAGCG	0.706000													3	24					0	0	0.004672	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907793	12907793	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:12907793C>T	ENST00000317869.6	-	2	575	c.350G>A	c.(349-351)cGg>cAg	p.R117Q		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ATAATAATCCCGTTGAAAGCC	0.512000													12	59					0	0	0.000978	0	0
DSC3	1825	broad.mit.edu	37	18	28598661	28598661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:28598661C>T	ENST00000434452.1	-	8	1202	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N	DSC3_ENST00000360428.4_Missense_Mutation_p.D350N	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	350	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GGTGCATTATCATTTGAATCT	0.308000													8	38					0	0	0.003080	0	0
IGHG4	3503	broad.mit.edu	37	14	106091303	106091303	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:106091303C>T	ENST00000390543.2	-	0	590																											ACTTGTACTCCTTGCCGTTCA	0.587000													17	320					0	0	0.001523	0	0
TNR	7143	broad.mit.edu	37	1	175331865	175331865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:175331865C>T	ENST00000367674.1	-	14	3496	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	TNR_ENST00000263525.2_Missense_Mutation_p.E930K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	930	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E930K(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGCTGATTTCGTATTCGGTA	0.532000													6	89					0	0	0.001168	0	0
PNMA5	114824	broad.mit.edu	37	X	152159167	152159167	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:152159167G>A	ENST00000439251.1	-	2	1414	c.976C>T	c.(976-978)Cga>Tga	p.R326*	PNMA5_ENST00000361887.5_Nonsense_Mutation_p.R326*|PNMA5_ENST00000452693.1_Nonsense_Mutation_p.R326*|PNMA5_ENST00000535214.1_Nonsense_Mutation_p.R326*	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	326					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTCATCTCGAATGAGCTTC	0.567000													15	21					0	0	0.002450	0	0
LRP5	4041	broad.mit.edu	37	11	68201134	68201134	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:68201134G>A	ENST00000294304.7	+	18	3934	c.3828G>A	c.(3826-3828)ggG>ggA	p.G1276G		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1276	LDL-receptor class A 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTATCCCCGGGGCCTGGCGCT	0.687000													29	88					0	0	0.007291	0	0
ESRRB	2103	broad.mit.edu	37	14	76967055	76967055	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:76967055C>T	ENST00000380887.2	+	9	1590	c.1518C>T	c.(1516-1518)ctC>ctT	p.L506L	ESRRB_ENST00000261532.7_3'UTR|ESRRB_ENST00000509242.1_Silent_p.L506L|RP11-187O7.3_ENST00000554926.1_lincRNA			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		ATCTCTGGCTCACCATGTAAC	0.567000													11	72					0	0	0.001368	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500135	48500135	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:48500135C>T	ENST00000396577.3	+	2	434	c.219C>T	c.(217-219)ttC>ttT	p.F73F	SLC12A1_ENST00000330289.6_Silent_p.F73F|SLC12A1_ENST00000561031.1_Silent_p.F73F|SLC12A1_ENST00000380993.3_Silent_p.F73F|SLC12A1_ENST00000558405.1_Silent_p.F73F	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	73					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATGACAATTTCCTCCAAAGTG	0.428000													10	47					0	0	0.000978	0	0
TRIML1	339976	broad.mit.edu	37	4	189061722	189061722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:189061722G>A	ENST00000332517.3	+	2	589	c.449G>A	c.(448-450)aGa>aAa	p.R150K		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	150					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CGTGTAAGGAGAAAGGAAGCT	0.473000													4	65					0	0	0.001168	0	0
GYS2	2998	broad.mit.edu	37	12	21727182	21727182	+	Nonsense_Mutation	SNP	G	G	A	rs150382575		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:21727182G>A	ENST00000261195.2	-	4	828	c.574C>T	c.(574-576)Cga>Tga	p.R192*		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	192					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTCCTGGCTCGAGAAAGGATC	0.418000													5	35					0	0	0.000602	0	0
RYR1	6261	broad.mit.edu	37	19	38980039	38980039	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:38980039G>A	ENST00000355481.4	+	35	5901	c.5770G>A	c.(5770-5772)Gaa>Aaa	p.E1924K	RYR1_ENST00000360985.3_Missense_Mutation_p.E1924K|RYR1_ENST00000359596.3_Missense_Mutation_p.E1924K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1924	6 X approximate repeats.|Glu-rich (acidic).				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGCTTGGAGGAAGGGCTGCT	0.542000													5	53					0	0	0.001984	0	0
SCN5A	6331	broad.mit.edu	37	3	38622611	38622611	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:38622611G>A	ENST00000413689.1	-	17	3232	c.3039C>T	c.(3037-3039)ccC>ccT	p.P1013P	SCN5A_ENST00000450102.2_Silent_p.P1013P|SCN5A_ENST00000449557.2_Silent_p.P1013P|SCN5A_ENST00000443581.1_Silent_p.P1013P|SCN5A_ENST00000414099.2_Silent_p.P1013P|SCN5A_ENST00000423572.2_Silent_p.P1013P|SCN5A_ENST00000333535.4_Silent_p.P1013P|SCN5A_ENST00000425664.1_Silent_p.P1013P|SCN5A_ENST00000451551.2_Silent_p.P1013P|SCN5A_ENST00000455624.2_Silent_p.P1013P	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1013					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCGTCTCTGGGGGTGGCGGGG	0.692000													5	17					0	0	0.000602	0	0
SCNN1G	6340	broad.mit.edu	37	16	23208648	23208648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:23208648G>A	ENST00000300061.2	+	6	1120	c.977G>A	c.(976-978)gGa>gAa	p.G326E	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	326					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCCTCCACTGGAGCTAAGGTG	0.488000													4	53					0	0	0.000602	0	0
AGRN	375790	broad.mit.edu	37	1	981167	981167	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:981167G>T	ENST00000379370.2	+	15	2641	c.2591G>T	c.(2590-2592)gGg>gTg	p.G864V		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	864	Laminin EGF-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CAGATGACGGGGCTGTGCTCG	0.667000													12	70					3.27435e-08	3.71345e-08	0.002450	1	0
OR1B1	347169	broad.mit.edu	37	9	125391313	125391313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:125391313G>A	ENST00000304833.3	-	1	539	c.502C>T	c.(502-504)Ctt>Ttt	p.L168F	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GTCCAGCAAAGAGGCAGGACG	0.527000													3	22					0	0	0.004672	0	0
IYD	389434	broad.mit.edu	37	6	150690282	150690282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:150690282G>A	ENST00000344419.3	+	1	255	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	IYD_ENST00000392255.3_Missense_Mutation_p.E39K|IYD_ENST00000229447.5_Missense_Mutation_p.E39K|IYD_ENST00000500320.3_Missense_Mutation_p.E39K|IYD_ENST00000392256.2_Missense_Mutation_p.E39K	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	39					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		p.E39K(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		AACCAGGGCCGAAGCTCGCCC	0.502000													12	81					0	0	0.001368	0	0
DUSP10	11221	broad.mit.edu	37	1	221913028	221913028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:221913028G>A	ENST00000366899.3	-	2	297	c.59C>T	c.(58-60)cCt>cTt	p.P20L	DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	20					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GAGATCCTGAGGTCGGACGGG	0.532000													14	80					0	0	0.002450	0	0
MROH9	80133	broad.mit.edu	37	1	170961428	170961428	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:170961428G>A	ENST00000367759.4	+	12	1306	c.1152G>A	c.(1150-1152)ggG>ggA	p.G384G	MROH9_ENST00000367758.3_Silent_p.G384G	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		TAACGGAAGGGAAACGTTTCT	0.458000													6	82					0	0	0.001168	0	0
KLK5	25818	broad.mit.edu	37	19	51446985	51446985	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:51446985C>T	ENST00000336334.3	-	6	1136	c.784G>A	c.(784-786)Gga>Aga	p.G262R	KLK5_ENST00000391809.2_Missense_Mutation_p.G262R|KLK5_ENST00000593428.1_Missense_Mutation_p.G262R	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	262	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GGGTAATCTCCCCAGGACACG	0.597000													6	26					0	0	0.001984	0	0
ZNF24	7572	broad.mit.edu	37	18	32920427	32920427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:32920427G>A	ENST00000589881.1	-	1	191	c.188C>T	c.(187-189)tCa>tTa	p.S63L	ZNF24_ENST00000261332.6_Missense_Mutation_p.S63L|ZNF24_ENST00000399061.3_Missense_Mutation_p.S63L			P17028	ZNF24_HUMAN	zinc finger protein 24	63	SCAN box.				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						GGGCCCAGGTGAATCCTGGTA	0.552000													12	59					0	0	0.001368	0	0
PIGX	54965	broad.mit.edu	37	3	196454969	196454969	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:196454969T>G	ENST00000314118.4	+	4	653	c.371T>G	c.(370-372)gTg>gGg	p.V124G	PIGX_ENST00000541663.1_Missense_Mutation_p.V57G|PIGX_ENST00000421265.1_Missense_Mutation_p.V124G	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	165					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		GCCTCGATTGTGGTCAATAAC	0.473000													4	30					0	0	0.001168	0	0
SLC26A11	284129	broad.mit.edu	37	17	78220411	78220411	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:78220411C>T	ENST00000361193.3	+	13	1537	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	SLC26A11_ENST00000546047.2_Silent_p.F419F|SLC26A11_ENST00000572725.1_Silent_p.F419F|SLC26A11_ENST00000411502.3_Silent_p.F419F	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	419						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCCCGCTGTTCGACACCAAGA	0.577000													6	15					0	0	0.001168	0	0
IGFBP7	3490	broad.mit.edu	37	4	57898610	57898610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:57898610C>T	ENST00000295666.4	-	4	844	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	IGFBP7_ENST00000512512.1_5'UTR|IGFBP7_ENST00000537922.1_Missense_Mutation_p.E271K	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	271					cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACTGGTATTTCATGTAAGGCA	0.363000													6	47					0	0	0.001168	0	0
LRRC66	339977	broad.mit.edu	37	4	52861909	52861909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:52861909C>T	ENST00000343457.3	-	4	1285	c.1279G>A	c.(1279-1281)Gat>Aat	p.D427N		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	427						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCCATGTCATCGTAGAAGCCC	0.537000													7	99					0	0	0.003080	0	0
CASP14	23581	broad.mit.edu	37	19	15164443	15164443	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:15164443G>A	ENST00000427043.3	+	3	485		c.e3+1		CASP14_ENST00000221740.1_Splice_Site	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase						apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CACTGCCGAGGTATTGGGGTG	0.547000													13	42					0	0	0.003163	0	0
KRT33A	3883	broad.mit.edu	37	17	39503171	39503171	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:39503171G>A	ENST00000007735.3	-	5	845	c.801C>T	c.(799-801)tcC>tcT	p.S267S		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	267	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CCGCCTGGTAGGACTGCAGCT	0.602000													11	40					0	0	0.002450	0	0
C20orf194	25943	broad.mit.edu	37	20	3278795	3278795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:3278795G>A	ENST00000252032.9	-	22	1877	c.1810C>T	c.(1810-1812)Ctc>Ttc	p.L604F	C20orf194_ENST00000498079.1_5'UTR|C20orf194_ENST00000453730.2_Missense_Mutation_p.L342F	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	604										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AAGTCTATGAGAAGAGCAGCA	0.438000													4	35					0	0	0.000248	0	0
SORCS3	22986	broad.mit.edu	37	10	106959853	106959853	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:106959853G>A	ENST00000369701.3	+	15	2333	c.2106G>A	c.(2104-2106)caG>caA	p.Q702Q	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	702						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGGACTATCAGACCTGGCACC	0.527000													5	49					0	0	0.000602	0	0
PCSK6	5046	broad.mit.edu	37	15	101905176	101905176	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:101905176G>A	ENST00000331826.7	-	12	1433	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	PCSK6_ENST00000348070.1_Intron|PCSK6_ENST00000398181.2_Intron|PCSK6_ENST00000358417.3_Intron|PCSK6_ENST00000561177.1_Intron|PCSK6_ENST00000344273.2_Intron			P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	0					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			cagaccaatggaacagaatcg	0.393000													5	18					0	0	0.000602	0	0
SRL	6345	broad.mit.edu	37	16	4242550	4242550	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:4242550G>A	ENST00000399609.3	-	6	1038	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	SRL_ENST00000537996.1_Silent_p.I300I	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	801	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GGAGGGCGTGGATGCGGACCC	0.517000													15	133					0	0	0.004990	0	0
EMR3	84658	broad.mit.edu	37	19	14769331	14769331	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:14769331C>T	ENST00000253673.5	-	5	487	c.387G>A	c.(385-387)agG>agA	p.R129R	EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000443157.2_Intron|EMR3_ENST00000344373.4_Silent_p.R77R	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	129					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TCACCTCTTTCCTGCCCTCGG	0.493000													5	56					0	0	0.001168	0	0
DNPEP	23549	broad.mit.edu	37	2	220246064	220246064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:220246064G>A	ENST00000273075.4	-	13	1452	c.1232C>T	c.(1231-1233)cCc>cTc	p.P411L	DNPEP_ENST00000373972.1_Missense_Mutation_p.P336L|DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000523282.1_Missense_Mutation_p.P419L	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	401					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CACCTGCAGGGGGACCTTGAC	0.612000													22	167					0	0	0.002096	0	0
P4HA3	283208	broad.mit.edu	37	11	74009362	74009362	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:74009362C>T	ENST00000331597.4	-	4	657	c.612G>A	c.(610-612)ctG>ctA	p.L204L	P4HA3_ENST00000427714.2_Silent_p.L204L	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	204						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CAGCCTCCTCCAGCCATGGAA	0.478000													29	100					0	0	0.008361	0	0
GLB1L2	89944	broad.mit.edu	37	11	134244587	134244587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:134244587C>T	ENST00000535456.2	+	18	1987	c.1799C>T	c.(1798-1800)cCc>cTc	p.P600L	GLB1L2_ENST00000389881.3_Missense_Mutation_p.P600L|GLB1L2_ENST00000339772.7_Missense_Mutation_p.P600L|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	600					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CTCCCAGGTCCCTGGTTGAGC	0.592000													17	64					0	0	0.007413	0	0
ALK	238	broad.mit.edu	37	2	29543651	29543651	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:29543651C>T	ENST00000389048.3	-	7	2418	c.1512G>A	c.(1510-1512)agG>agA	p.R504R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	504	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCTTTAGGGTCCTGACCTGCC	0.542000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				16	69					0	0	0.008871	0	0
INTS7	25896	broad.mit.edu	37	1	212115266	212115266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:212115266G>A	ENST00000366994.3	-	20	2893	c.2789C>T	c.(2788-2790)tCc>tTc	p.S930F	INTS7_ENST00000366993.3_Missense_Mutation_p.S916F|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.S910F|INTS7_ENST00000440600.2_Missense_Mutation_p.S881F	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	930					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GTCTTCCAGGGATTTTACAAA	0.453000													24	85					0	0	0.002299	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996364	19996364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:19996364G>A	ENST00000391403.2	-	1	1514	c.1411C>T	c.(1411-1413)Cct>Tct	p.P471S		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	471						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGTCCATAAGGATCTTTTTCT	0.373000													5	61					0	0	0.000602	0	0
KALRN	8997	broad.mit.edu	37	3	124390733	124390733	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:124390733C>T	ENST00000360013.3	+	48	7054	c.6927C>T	c.(6925-6927)ttC>ttT	p.F2309F	KALRN_ENST00000291478.4_Silent_p.F612F|KALRN_ENST00000428018.2_Silent_p.F580F|KALRN_ENST00000459915.1_Silent_p.F401F|KALRN_ENST00000393496.1_Silent_p.F650F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2308					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.F612F(1)|p.F2309F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGGACAAGTTCGAAGCCAGCA	0.527000													8	89					0	0	0.006214	0	0
SETD3	84193	broad.mit.edu	37	14	99866594	99866594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:99866594C>T	ENST00000331768.5	-	12	1339	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	394					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TCTTTCAGTTCTTCTACAAGA	0.413000													5	48					0	0	0.000602	0	0
INTS3	65123	broad.mit.edu	37	1	153744397	153744397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:153744397C>T	ENST00000456435.1	+	26	3246	c.2060C>T	c.(2059-2061)tCc>tTc	p.S687F	INTS3_ENST00000435409.2_Missense_Mutation_p.S893F|INTS3_ENST00000512605.1_Missense_Mutation_p.S687F|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000318967.2_Missense_Mutation_p.S893F			Q68E01	INT3_HUMAN	integrator complex subunit 3	894					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACATCAAGTCCCTGCTCATC	0.607000											OREG0013827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	26					0	0	0.000602	0	0
UBR3	130507	broad.mit.edu	37	2	170806490	170806490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:170806490G>A	ENST00000272793.5	+	23	3510	c.3460G>A	c.(3460-3462)Gaa>Aaa	p.E1154K	UBR3_ENST00000418381.1_Missense_Mutation_p.E1154K			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1154					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ACGCATCATTGAAGAGATATG	0.363000													7	65					0	0	0.003080	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350300	51350300	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:51350300C>T	ENST00000327536.5	-	3	756	c.657G>A	c.(655-657)agG>agA	p.R219R	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	219										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		AGAGCACGTTCCTATCGAAGG	0.557000													9	30					0	0	0.004482	0	0
STAT4	6775	broad.mit.edu	37	2	192012813	192012813	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:192012813T>A	ENST00000392320.2	-	2	431	c.117A>T	c.(115-117)gaA>gaT	p.E39D	STAT4_ENST00000409995.1_Missense_Mutation_p.E39D|STAT4_ENST00000358470.4_Missense_Mutation_p.E39D	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	39					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AGTCTTGATTTTCAATCCATT	0.373000													8	39					0	0	0.004482	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16847974	16847974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:16847974G>A	ENST00000355661.3	-	10	1046	c.1036C>T	c.(1036-1038)Cgt>Tgt	p.R346C	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R346C|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R346C|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	346					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CTCTGGGAACGGTACTGCTCT	0.597000													10	38					0	0	0.001368	0	0
MAP2	4133	broad.mit.edu	37	2	210557907	210557907	+	Missense_Mutation	SNP	C	C	T	rs144486691		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:210557907C>T	ENST00000360351.4	+	7	1519	c.1013C>T	c.(1012-1014)tCg>tTg	p.S338L	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.S334L	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	338					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ACAGAAACATCGCCCTTTGCC	0.438000													5	36					0	0	0.001168	0	0
LILRB1	10859	broad.mit.edu	37	19	55142543	55142543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55142543G>A	ENST00000396331.1	+	3	376	c.19G>A	c.(19-21)Gtc>Atc	p.V7I	LILRB1_ENST00000396327.3_Missense_Mutation_p.V7I|LILRB1_ENST00000396332.4_Missense_Mutation_p.V7I|LILRB1_ENST00000396317.1_Missense_Mutation_p.V7I|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000324602.7_Missense_Mutation_p.V7I|LILRB1_ENST00000396315.1_Missense_Mutation_p.V7I|LILRB1_ENST00000434867.2_Missense_Mutation_p.V7I|LILRB1_ENST00000427581.2_Missense_Mutation_p.V43I	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	7					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CATCCTCACGGTCCTGATCTG	0.587000										HNSCC(37;0.09)			17	40					0	0	0.001882	0	0
PMP2	5375	broad.mit.edu	37	8	82357172	82357172	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:82357172G>A	ENST00000256103.2	-	2	262	c.126C>T	c.(124-126)atC>atT	p.I42I	RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000519260.1_Intron	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	42						cytoplasm	cholesterol binding|fatty acid binding|transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			TCTTGCTGATGATCACAGTGG	0.388000													5	40					0	0	0.000602	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755443	140755443	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140755443C>T	ENST00000517434.1	+	1	1793	c.1793C>T	c.(1792-1794)tCg>tTg	p.S598L	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGAGACTCGGGCCAGAAC	0.711000													14	43					0	0	0.001855	0	0
CLEC4E	26253	broad.mit.edu	37	12	8693356	8693356	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:8693356C>T	ENST00000299663.3	-	1	203		c.e1+1		CLEC4E_ENST00000446457.2_Splice_Site|CLEC4E_ENST00000545274.1_Splice_Site	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E							integral to membrane	sugar binding	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					GCAGATTTTACCTGTGCATTG	0.348000													14	79					0	0	0.004990	0	0
IL19	29949	broad.mit.edu	37	1	206972280	206972280	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:206972280C>T	ENST00000340758.2	+	1	66	c.41C>T	c.(40-42)tCc>tTc	p.S14F		NM_153758.2	NP_715639.1	Q9UHD0	IL19_HUMAN	interleukin 19	0					apoptosis|immune response|signal transduction	extracellular space	cytokine activity	p.S14C(1)		central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TCTGCGTGTTCCTTACCACTC	0.507000													28	47					0	0	0.001786	0	0
VIP	7432	broad.mit.edu	37	6	153075349	153075349	+	Silent	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:153075349T>A	ENST00000367244.3	+	3	328	c.156T>A	c.(154-156)gtT>gtA	p.V52V	VIP_ENST00000367243.3_Silent_p.V52V	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	52					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CTGATCAAGTTTCATTAAAAG	0.358000													9	35					0	0	0.004482	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825923	146825923	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:146825923A>T	ENST00000361727.3	+	7	1594	c.1078A>T	c.(1078-1080)Aat>Tat	p.N360Y		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	360	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGAGCCCTCAAATGTGGTAAG	0.348000										HNSCC(39;0.1)			6	104					0	0	0.001168	0	0
PTPRT	11122	broad.mit.edu	37	20	40770594	40770594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:40770594C>T	ENST00000373198.3	-	19	3032	c.2797G>A	c.(2797-2799)Gaa>Aaa	p.E933K	PTPRT_ENST00000356100.2_Missense_Mutation_p.E920K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E901K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E911K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E914K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E901K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E910K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	911	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTGCGGTTTTCATCCTCCTTG	0.507000													10	138					0	0	0.001368	0	0
SEZ6L	23544	broad.mit.edu	37	22	26706643	26706643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:26706643G>A	ENST00000529632.2	+	7	1718	c.1522G>A	c.(1522-1524)Gtt>Att	p.V508I	SEZ6L_ENST00000402979.1_Missense_Mutation_p.V281I|SEZ6L_ENST00000248933.6_Missense_Mutation_p.V508I|SEZ6L_ENST00000403121.1_Missense_Mutation_p.V281I|SEZ6L_ENST00000404234.3_Missense_Mutation_p.V508I|SEZ6L_ENST00000343706.4_Missense_Mutation_p.V508I|SEZ6L_ENST00000360929.3_Missense_Mutation_p.V508I	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	508	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CAGGATGACGGTTCACAGCGG	0.577000													6	54					0	0	0.004482	0	0
PIPSL	266971	broad.mit.edu	37	10	95719960	95719960	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:95719960C>T	ENST00000480546.1	-	0	1337					NR_002319.2																						AGGGAATCTTCTTAAATACCG	0.502000													9	36					0	0	0.008291	0	0
EGFR	1956	broad.mit.edu	37	7	55249165	55249165	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:55249165C>T	ENST00000275493.2	+	20	2640	c.2463C>T	c.(2461-2463)atC>atT	p.I821I	EGFR_ENST00000454757.2_Silent_p.I768I|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_Silent_p.I776I|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	821	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGTGCAGATCGCAAAGGTAA	0.557000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			14	52					0	0	0.002450	0	0
PDE3A	5139	broad.mit.edu	37	12	20803529	20803529	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:20803529G>A	ENST00000359062.3	+	14	2960	c.2920G>A	c.(2920-2922)Gaa>Aaa	p.E974K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	974	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGAATTTTATGAACAGGTAAC	0.363000													5	39					0	0	0.001168	0	0
CFH	3075	broad.mit.edu	37	1	196695721	196695721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:196695721G>A	ENST00000367429.4	+	13	2235	c.1995G>A	c.(1993-1995)atG>atA	p.M665I		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	665	Sushi 11.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GATTTCTAATGAAGGGACCTA	0.333000													8	40					0	0	0.006214	0	0
CNTFR	1271	broad.mit.edu	37	9	34556355	34556355	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:34556355C>T	ENST00000378980.3	-	7	959	c.666G>A	c.(664-666)ctG>ctA	p.L222L	CNTFR_ENST00000351266.4_Silent_p.L222L	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	222	Fibronectin type-III 2.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		ACGTCACCTCCAGCCGGCGAG	0.572000													5	30					0	0	0.000602	0	0
PLEC	5339	broad.mit.edu	37	8	144990957	144990957	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:144990957G>A	ENST00000322810.4	-	32	13612	c.13443C>T	c.(13441-13443)atC>atT	p.I4481I	PLEC_ENST00000357649.2_Silent_p.I4348I|PLEC_ENST00000436759.2_Silent_p.I4371I|PLEC_ENST00000354958.2_Silent_p.I4322I|PLEC_ENST00000356346.3_Silent_p.I4330I|PLEC_ENST00000398774.2_Silent_p.I4312I|PLEC_ENST00000527096.1_Silent_p.I4367I|PLEC_ENST00000354589.3_Silent_p.I4344I|PLEC_ENST00000345136.3_Silent_p.I4344I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4481	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGTCCACCATGATCTTGTCCA	0.657000													19	53					0	0	0.007413	0	0
SCAND3	114821	broad.mit.edu	37	6	28541181	28541181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:28541181G>A	ENST00000452236.2	-	4	3102	c.2485C>T	c.(2485-2487)Ccg>Tcg	p.P829S		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	829					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ttggcaaccggaagtgctact	0.398000													22	106					0	0	0.002299	0	0
ZNF425	155054	broad.mit.edu	37	7	148801358	148801358	+	Silent	SNP	G	G	A	rs149172104	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:148801358G>A	ENST00000378061.2	-	4	1737	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	535					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGCGTCGGCGGAAACTGCGGC	0.617000													4	26					0	0	0.000248	0	0
ADH1C	126	broad.mit.edu	37	4	100268961	100268961	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:100268961G>A	ENST00000510055.1	-	0	235				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	ATGGAAAAGGGTTTCTTTAAC	0.388000													5	46					0	0	0.001984	0	0
ANKS6	203286	broad.mit.edu	37	9	101536359	101536359	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:101536359G>A	ENST00000353234.4	-	9	1668	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*	ANKS6_ENST00000540940.1_Nonsense_Mutation_p.R346*|ANKS6_ENST00000375019.2_Nonsense_Mutation_p.R240*|ANKS6_ENST00000375018.1_Nonsense_Mutation_p.R541*			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	541										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GCTCCGTTTCGAAGCTGAAAA	0.557000													4	24					0	0	0.000248	0	0
C10orf120	399814	broad.mit.edu	37	10	124459229	124459229	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:124459229C>T	ENST00000329446.4	-	1	109	c.78G>A	c.(76-78)aaG>aaA	p.K26K		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	26										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GCTTTTCATTCTTCCTTTCTT	0.448000													7	56					0	0	0.001984	0	0
MYO7A	4647	broad.mit.edu	37	11	76868005	76868005	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:76868005G>A	ENST00000409709.3	+	7	962	c.690G>A	c.(688-690)gcG>gcA	p.A230A	MYO7A_ENST00000409893.1_Silent_p.A230A|MYO7A_ENST00000409619.2_Silent_p.A219A|MYO7A_ENST00000458637.2_Silent_p.A230A	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	230	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCGAGGGCGCGAAGATTGAGC	0.582000													8	42					0	0	0.004482	0	0
WEE2	494551	broad.mit.edu	37	7	141429368	141429368	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:141429368G>A	ENST00000397541.2	+	11	1979	c.1573G>A	c.(1573-1575)Gga>Aga	p.G525R	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	525					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GTCACCCCAGGGATATACCCA	0.517000													6	71					0	0	0.001168	0	0
CCDC47	57003	broad.mit.edu	37	17	61829717	61829717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:61829717G>A	ENST00000225726.5	-	11	1548	c.1166C>T	c.(1165-1167)tCt>tTt	p.S389F	CCDC47_ENST00000403162.3_Missense_Mutation_p.S389F|CCDC47_ENST00000582252.1_Missense_Mutation_p.S389F	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	389						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						TTTATCAATAGAATAAATCAC	0.418000													14	90					0	0	0.004990	0	0
PSIP1	11168	broad.mit.edu	37	9	15486016	15486016	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:15486016C>T	ENST00000380733.4	-	6	787	c.444G>A	c.(442-444)ggG>ggA	p.G148G	PSIP1_ENST00000380716.4_Silent_p.G148G|PSIP1_ENST00000380738.4_Silent_p.G148G|PSIP1_ENST00000380715.1_Silent_p.G148G|PSIP1_ENST00000397519.2_Silent_p.G148G			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	148					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTCTCTTTCTCCCCCTTCTGG	0.348000													12	118					0	0	0.002450	0	0
LIPF	8513	broad.mit.edu	37	10	90429633	90429633	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:90429633C>T	ENST00000394375.3	+	6	605	c.492C>T	c.(490-492)atC>atT	p.I164I	LIPF_ENST00000355843.2_Silent_p.I121I|LIPF_ENST00000238983.4_Silent_p.I154I	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	154					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		CAGCCACAATCGACTTCATTG	0.398000													12	119					0	0	0.002450	0	0
ARRDC4	91947	broad.mit.edu	37	15	98514404	98514404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:98514404C>T	ENST00000268042.6	+	8	1408	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F	ARRDC4_ENST00000538249.1_Missense_Mutation_p.S328F	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	415					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			CAGCCTGTTTCCTTCATTCTC	0.398000													7	104					0	0	0.008291	0	0
OR13A1	79290	broad.mit.edu	37	10	45798916	45798916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:45798916G>A	ENST00000553795.1	-	4	1263	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	OR13A1_ENST00000536058.1_Missense_Mutation_p.L319F|OR13A1_ENST00000374401.2_Missense_Mutation_p.L319F	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AGCTTCCTGAGGGCTGCTTTG	0.473000													9	71					0	0	0.008291	0	0
NAALADL1	10004	broad.mit.edu	37	11	64825817	64825817	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:64825817C>T	ENST00000358658.3	-	1	204	c.177G>A	c.(175-177)gaG>gaA	p.E59E	NAALADL1_ENST00000339885.2_Silent_p.E59E|NAALADL1_ENST00000355721.3_Silent_p.E59E|NAALADL1_ENST00000340252.4_Silent_p.E59E|NAALADL1_ENST00000355369.2_Silent_p.E59E|NAALADL1_ENST00000356632.3_Silent_p.E59E	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	59					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						ACCTGAGGTTCTCCCGGATCC	0.637000													5	27					0	0	0.001168	0	0
MTAP	4507	broad.mit.edu	37	9	21837992	21837992	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:21837992T>G	ENST00000380172.4	+	5	639	c.433T>G	c.(433-435)Tgc>Ggc	p.C145G	MTAP_ENST00000460874.2_Missense_Mutation_p.C162G|RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000580900.1_Missense_Mutation_p.C145G	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN	methylthioadenosine phosphorylase	145					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	TGAGCCGTTTTGCCCCAAAAC	0.473000													35	250					0	0	0.003271	0	0
ROBO4	54538	broad.mit.edu	37	11	124767092	124767092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:124767092G>A	ENST00000306534.3	-	2	621	c.136C>T	c.(136-138)Cct>Tct	p.P46S	ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Intron	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	46	Ig-like C2-type 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCAGGGCCAGGGCCCTGGAAC	0.667000													3	13					0	0	0.004672	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202400826	202400826	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:202400826A>G	ENST00000439140.1	-	13	1468	c.1424T>C	c.(1423-1425)aTg>aCg	p.M475T	ALS2CR11_ENST00000286195.3_Missense_Mutation_p.M475T|ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.M475T	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	475										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TACATTTTTCATTTTTCTGTC	0.343000													10	70					0	0	0.006214	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72468481	72468481	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:72468481C>T	ENST00000373208.1	+	4	817	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R273C	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	273	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTCGGTGGTTCGCTTCCATGG	0.617000													12	64					0	0	0.001855	0	0
EPS8L3	79574	broad.mit.edu	37	1	110301246	110301246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:110301246C>T	ENST00000369805.3	-	7	733	c.504G>A	c.(502-504)tgG>tgA	p.W168*	EPS8L3_ENST00000494151.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Nonsense_Mutation_p.W167*|EPS8L3_ENST00000361852.4_Nonsense_Mutation_p.W167*	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	167						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CAGGCCCCCTCCATCTGTCCT	0.617000													9	38					0	0	0.006214	0	0
OR9I1	219954	broad.mit.edu	37	11	57886848	57886848	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:57886848C>T	ENST00000302610.1	-	1	68	c.69G>A	c.(67-69)ttG>ttA	p.L23L	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GGGGAATCTCCAATTTGGGGT	0.438000													5	36					0	0	0.000602	0	0
IGHV3-38	28429	broad.mit.edu	37	14	106866491	106866491	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:106866491G>A	ENST00000390618.2	-	0	340																											ATTGTCTCTGGAGATGGTGAA	0.527000													7	95					0	0	0.003080	0	0
LTN1	26046	broad.mit.edu	37	21	30339281	30339281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:30339281G>A	ENST00000361371.4	-	10	1682	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	LTN1_ENST00000389195.2_Missense_Mutation_p.S557F|LTN1_ENST00000389194.2_Missense_Mutation_p.S557F	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	511							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ACCCAAAACGGACTCAACATC	0.408000													5	85					0	0	0.000602	0	0
ZDHHC4	55146	broad.mit.edu	37	7	6622969	6622969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:6622969C>T	ENST00000396706.2	+	6	846	c.403C>T	c.(403-405)Ctt>Ttt	p.L135F	AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.L135F|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.L135F|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.L135F|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.L135F|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.L135F			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	135						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		ATTATTATTTCTTCATGTTTA	0.388000													12	41					0	0	0.001368	0	0
SLC13A4	26266	broad.mit.edu	37	7	135366410	135366410	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:135366410C>T	ENST00000354042.4	-	16	2471	c.1782G>A	c.(1780-1782)gtG>gtA	p.V594V	C7orf73_ENST00000422968.1_Intron|SLC13A4_ENST00000491630.1_5'UTR	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	594						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CCATTACTATCACCAGTCCAA	0.542000													9	26					0	0	0.004482	0	0
PTPRD	5789	broad.mit.edu	37	9	8499749	8499749	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:8499749C>T	ENST00000381196.4	-	22	2763	c.2220G>A	c.(2218-2220)caG>caA	p.Q740Q	PTPRD_ENST00000540109.1_Silent_p.Q740Q|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Silent_p.Q727Q|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Silent_p.Q740Q|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000360074.4_Silent_p.Q727Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	740	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCTGGCCATGCTGTTTATTGG	0.507000										TSP Lung(15;0.13)			8	70					0	0	0.008291	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175944	140175944	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140175944G>A	ENST00000526136.1	+	1	1395	c.1395G>A	c.(1393-1395)aaG>aaA	p.K465K	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.K465K|PCDHA2_ENST00000520672.2_Silent_p.K465K	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTCGTGAAGGAGAACAACC	0.652000													4	48					0	0	0.000602	0	0
ITSN1	6453	broad.mit.edu	37	21	35138184	35138184	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:35138184T>C	ENST00000381318.3	+	10	1082	c.794T>C	c.(793-795)cTt>cCt	p.L265P	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Missense_Mutation_p.L265P|ITSN1_ENST00000399349.1_Missense_Mutation_p.L265P|ITSN1_ENST00000399352.1_Missense_Mutation_p.L265P|ITSN1_ENST00000399338.4_Missense_Mutation_p.L265P|ITSN1_ENST00000488166.1_3'UTR|ITSN1_ENST00000399326.3_Missense_Mutation_p.L265P|ITSN1_ENST00000381285.4_Missense_Mutation_p.L265P|ITSN1_ENST00000437442.2_Missense_Mutation_p.L265P|ITSN1_ENST00000379960.5_Missense_Mutation_p.L265P|ITSN1_ENST00000399353.1_Missense_Mutation_p.L228P|ITSN1_ENST00000399367.3_Missense_Mutation_p.L265P|ITSN1_ENST00000399355.2_Missense_Mutation_p.L265P	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	265	EF-hand 2.|EH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AATAGGAATCTTTCTGACATT	0.358000													4	39					0	0	0.000248	0	0
BIRC5	332	broad.mit.edu	37	17	76212782	76212782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:76212782C>T	ENST00000301633.4	+	4	459	c.328C>T	c.(328-330)Ctt>Ttt	p.L110F	BIRC5_ENST00000589892.1_3'UTR|AC087645.1_ENST00000600484.1_Missense_Mutation_p.R272K|BIRC5_ENST00000592734.1_Intron|BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000350051.3_Missense_Mutation_p.L87F	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	87					anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			TTGCGCTTTCCTTTCTGTCAA	0.413000													4	85					0	0	0.000248	0	0
OTOF	9381	broad.mit.edu	37	2	26691294	26691294	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:26691294C>T	ENST00000272371.2	-	33	4198	c.4072G>A	c.(4072-4074)Gaa>Aaa	p.E1358K	OTOF_ENST00000402415.3_Missense_Mutation_p.E668K|OTOF_ENST00000339598.3_Missense_Mutation_p.E591K|OTOF_ENST00000403946.3_Missense_Mutation_p.E1358K|OTOF_ENST00000338581.6_Missense_Mutation_p.E591K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1358					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTCCACTTCCTCCTTCTCC	0.567000													6	46					0	0	0.004482	0	0
ESRP1	54845	broad.mit.edu	37	8	95674533	95674533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:95674533G>A	ENST00000433389.2	+	5	714	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	ESRP1_ENST00000454170.2_Missense_Mutation_p.R175Q|ESRP1_ENST00000358397.5_Missense_Mutation_p.R175Q|ESRP1_ENST00000423620.2_Missense_Mutation_p.R175Q	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	175					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TCAGTCTCTCGATATGGAGCC	0.318000													41	353					0	0	0.003214	0	0
PAPPA2	60676	broad.mit.edu	37	1	176679217	176679217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:176679217G>A	ENST00000367662.3	+	11	4720	c.3556G>A	c.(3556-3558)Gga>Aga	p.G1186R		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1186					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACTCCCAAAGGATACTTGGA	0.463000													11	103					0	0	0.001368	0	0
ACE	1636	broad.mit.edu	37	17	61557816	61557816	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:61557816C>T	ENST00000290866.4	+	5	798	c.774C>T	c.(772-774)gtC>gtT	p.V258V	ACE_ENST00000538928.1_Silent_p.V258V|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Silent_p.V258V	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	258	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ATGCCTTCGTCCGCCGCGCAC	0.602000													8	58					0	0	0.004482	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138574	126138574	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:126138574C>T	ENST00000299308.3	+	9	2563	c.2555C>T	c.(2554-2556)tCt>tTt	p.S852F	TMEM132B_ENST00000535886.1_Missense_Mutation_p.S364F	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	852						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACCCCCCAGTCTCCCATGGAA	0.522000													5	22					0	0	0.000602	0	0
HLX	3142	broad.mit.edu	37	1	221057551	221057551	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:221057551C>T	ENST00000366903.6	+	4	2473	c.972C>T	c.(970-972)ttC>ttT	p.F324F	HLX_ENST00000549319.1_Silent_p.F110F	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	324					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		AGGTGTGGTTCCAGAACCGGC	0.632000													8	56					0	0	0.000978	0	0
OR14C36	127066	broad.mit.edu	37	1	248512664	248512664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248512664G>A	ENST00000317861.1	+	1	588	c.588G>A	c.(586-588)atG>atA	p.M196I		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ATGAGGTCATGATTGTTGTCT	0.493000													6	65					0	0	0.001168	0	0
LAMA3	3909	broad.mit.edu	37	18	21495273	21495273	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:21495273C>T	ENST00000313654.9	+	59	7906	c.7665C>T	c.(7663-7665)ttC>ttT	p.F2555F	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Silent_p.F2499F|LAMA3_ENST00000269217.6_Silent_p.F946F|LAMA3_ENST00000587184.1_Silent_p.F890F	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2555	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACTAAGTTTCCCTCCATACA	0.328000													4	34					0	0	0.001168	0	0
LGI2	55203	broad.mit.edu	37	4	25005516	25005516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:25005516G>A	ENST00000382114.4	-	8	1380	c.1195C>T	c.(1195-1197)Ctc>Ttc	p.L399F		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	399						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TTCCACTGGAGGATGATGGGG	0.517000													38	111					0	0	0.005524	0	0
UNC13C	440279	broad.mit.edu	37	15	54307588	54307588	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:54307588A>T	ENST00000545554.1	+	1	2488	c.2488A>T	c.(2488-2490)Atg>Ttg	p.M830L	UNC13C_ENST00000537900.1_Missense_Mutation_p.M830L|UNC13C_ENST00000260323.11_Missense_Mutation_p.M830L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	830					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCTTCATTAATGGGGAGATT	0.438000													11	29					0	0	0.001368	0	0
UNC5B	219699	broad.mit.edu	37	10	73050839	73050839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:73050839C>T	ENST00000335350.6	+	9	1683	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S	UNC5B_ENST00000373192.4_Missense_Mutation_p.P412S	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	423					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TGGTTTCCACCCCGTCAACTT	0.592000													22	145					0	0	0.002780	0	0
OR5T2	219464	broad.mit.edu	37	11	55999927	55999927	+	Silent	SNP	G	G	A	rs138680983	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:55999927G>A	ENST00000313264.4	-	1	810	c.735C>T	c.(733-735)atC>atT	p.I245I		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGACCAGCTCGATAGAGCCCA	0.428000													6	66					0	0	0.001168	0	0
ST18	9705	broad.mit.edu	37	8	53071633	53071633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:53071633C>T	ENST00000276480.7	-	15	2314	c.1631G>A	c.(1630-1632)cGa>cAa	p.R544Q		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	544						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ACTAGGCAGTCGATTAGGAAA	0.463000													10	77					0	0	0.000978	0	0
PRPF31	26121	broad.mit.edu	37	19	54627880	54627880	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:54627880G>T	ENST00000321030.4	+	8	1049	c.700G>T	c.(700-702)Gtg>Ttg	p.V234L	PRPF31_ENST00000419967.1_Missense_Mutation_p.V234L|PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000391755.1_Missense_Mutation_p.V234L|AC012314.8_ENST00000452097.1_RNA	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	234	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CACCGCAGGTGTGGCCGGCGG	0.657000													8	41					3.86212e-05	4.36509e-05	0.008291	1	0
PRUNE2	158471	broad.mit.edu	37	9	79324378	79324378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:79324378C>T	ENST00000428286.1	-	8	2935	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E938K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	938					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAGGAATCTTCCCAAGGAACT	0.423000													20	155					0	0	0.008871	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42396791	42396791	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:42396791T>C	ENST00000599846.1	+	7	610	c.485T>C	c.(484-486)cTc>cCc	p.L162P	ARHGEF1_ENST00000337665.4_Missense_Mutation_p.L177P|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.L129P|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.L144P|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.L162P			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	162	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TCCAAGCGGCTCATGGGCATG	0.692000													7	24					0	0	0.003080	0	0
RFX5	5993	broad.mit.edu	37	1	151314893	151314893	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:151314893G>A	ENST00000290524.4	-	11	1798	c.1620C>T	c.(1618-1620)tcC>tcT	p.S540S	RFX5_ENST00000368870.2_Silent_p.S540S|RFX5_ENST00000452513.2_Silent_p.S500S|RFX5_ENST00000452671.2_Silent_p.S540S	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	540						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTCCTCCTTTGGAAACAGTAC	0.567000													32	102					0	0	0.004878	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122280585	122280585	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:122280585C>T	ENST00000398250.1	+	5	775	c.423C>T	c.(421-423)agC>agT	p.S141S	PPAPDC1A_ENST00000369073.3_Silent_p.S131S|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000541332.1_Silent_p.S141S|PPAPDC1A_ENST00000439221.1_Intron	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	141					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GCCGCAAAAGCTTCCCCAGCA	0.522000													5	27					0	0	0.000602	0	0
RIMS1	22999	broad.mit.edu	37	6	72596847	72596847	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:72596847G>A	ENST00000264839.7	+	1	121	c.121G>A	c.(121-123)Gac>Aac	p.D41N	RIMS1_ENST00000517960.1_Missense_Mutation_p.D41N|RIMS1_ENST00000522291.1_Missense_Mutation_p.D41N|RIMS1_ENST00000491071.2_Missense_Mutation_p.D41N|RIMS1_ENST00000518273.1_Missense_Mutation_p.D41N|RIMS1_ENST00000520567.1_Missense_Mutation_p.D41N|RIMS1_ENST00000348717.5_Missense_Mutation_p.D41N|RIMS1_ENST00000521978.1_Missense_Mutation_p.D41N			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	41	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGCAGTGATGGACCGGCAGAA	0.617000													4	7					0	0	0.000248	0	0
SLC45A2	51151	broad.mit.edu	37	5	33947288	33947288	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:33947288G>A	ENST00000382102.3	-	6	1405	c.1348C>T	c.(1348-1350)Cac>Tac	p.H450Y	SLC45A2_ENST00000296589.4_Missense_Mutation_p.H450Y|SLC45A2_ENST00000342059.3_Missense_Mutation_p.H391Y	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	450					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TCCTCGCGGTGGTACTCAGTA	0.517000													33	117					0	0	0.004289	0	0
ZNF652	22834	broad.mit.edu	37	17	47389359	47389359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:47389359G>A	ENST00000362063.2	-	4	1412	c.1094C>T	c.(1093-1095)tCa>tTa	p.S365L	ZNF652_ENST00000430262.2_Missense_Mutation_p.S365L	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GCGTTTGAATGATTTTCCACA	0.448000													9	66					0	0	0.000978	0	0
REST	5978	broad.mit.edu	37	4	57777225	57777225	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:57777225C>T	ENST00000309042.7	+	2	735	c.421C>T	c.(421-423)Ccc>Tcc	p.P141S		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	141					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TAAAGATCTTCCCCCTGAAAC	0.458000													12	52					0	0	0.001368	0	0
INHA	3623	broad.mit.edu	37	2	220439824	220439824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:220439824G>A	ENST00000243786.2	+	2	857	c.677G>A	c.(676-678)gGa>gAa	p.G226E		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	226					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCACCCAGTGGAGGGGAGAGA	0.682000													11	24					0	0	0.008291	0	0
ALB	213	broad.mit.edu	37	4	74283949	74283949	+	Missense_Mutation	SNP	G	G	A	rs75523493		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:74283949G>A	ENST00000295897.4	+	12	1662	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	ALB_ENST00000415165.2_Missense_Mutation_p.E333K|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.E410K|ALB_ENST00000503124.1_Missense_Mutation_p.E375K|ALB_ENST00000509063.1_Missense_Mutation_p.E525K	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	525	Albumin 3.		E -> K (in Manaus-1/Adana/Lambadi/ Vancouver).	E -> Q (in Ref. 18; AA sequence).	bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CGTTCCCAAAGAGTTTAATGC	0.428000													4	54					0	0	0.000248	0	0
AKNAD1	254268	broad.mit.edu	37	1	109380268	109380268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:109380268C>T	ENST00000370001.3	-	7	1708	c.1440G>A	c.(1438-1440)atG>atA	p.M480I	AKNAD1_ENST00000369994.1_Missense_Mutation_p.M480I|AKNAD1_ENST00000369995.3_Missense_Mutation_p.M480I|AKNAD1_ENST00000357393.4_Missense_Mutation_p.M187I	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	480										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TGCTTTCATCCATTTTCTCTT	0.413000													12	63					0	0	0.000978	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900453	151900453	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:151900453C>T	ENST00000393900.3	-	3	701	c.348G>A	c.(346-348)ttG>ttA	p.L116L	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.L116L|MAGEA12_ENST00000357916.4_Silent_p.L116L	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	116	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GAAAATGAACCAACTCAGCCA	0.512000													16	32					0	0	0.004007	0	0
OR8B2	26595	broad.mit.edu	37	11	124252337	124252337	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:124252337C>T	ENST00000375013.2	-	1	921	c.903G>A	c.(901-903)agG>agA	p.R301R		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TCAGAGCTTTCCTCAGTGCAA	0.348000													9	43					0	0	0.006214	0	0
SIN3B	23309	broad.mit.edu	37	19	16980351	16980351	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:16980351C>T	ENST00000379803.1	+	14	1997	c.1983C>T	c.(1981-1983)atC>atT	p.I661I	SIN3B_ENST00000595541.1_Silent_p.I219I|SIN3B_ENST00000248054.5_Silent_p.I629I	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	661					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACCGGCAGATCCTGGAGGACG	0.662000													6	21					0	0	0.001984	0	0
POLN	353497	broad.mit.edu	37	4	2083370	2083370	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:2083370G>A	ENST00000511885.2	-	22	2651	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	POLN_ENST00000382865.1_Silent_p.F766F			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	766					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CTTGCACCACGAAGTTCACTG	0.567000								DNA polymerases (catalytic subunits)					5	26					0	0	0.000602	0	0
DNAH10	196385	broad.mit.edu	37	12	124298348	124298348	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:124298348C>T	ENST00000409039.3	+	20	3340	c.3315C>T	c.(3313-3315)ctC>ctT	p.L1105L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1105	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTGAAGATCTCAAGTTTGTCC	0.408000													4	19					0	0	0.000248	0	0
MYOM2	9172	broad.mit.edu	37	8	2021482	2021482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:2021482C>T	ENST00000262113.4	+	10	1163	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	341	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCCTCCCTGTCCTTCAGCCAC	0.567000													7	56					0	0	0.004482	0	0
UBR2	23304	broad.mit.edu	37	6	42637833	42637833	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:42637833C>T	ENST00000372901.1	+	35	4143	c.3885C>T	c.(3883-3885)atC>atT	p.I1295I	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Silent_p.I1295I			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1295					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ACTTCAGGATCCCTTATTCTG	0.378000													5	34					0	0	0.000602	0	0
OR51G2	81282	broad.mit.edu	37	11	4936029	4936029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:4936029G>A	ENST00000322013.3	-	1	893	c.865C>T	c.(865-867)Cct>Tct	p.P289S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCACAGGAGGAAAGAGAAGA	0.493000													5	26					0	0	0.000602	0	0
DNMT1	1786	broad.mit.edu	37	19	10270588	10270588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:10270588G>A	ENST00000340748.4	-	15	1287	c.1052C>T	c.(1051-1053)cCc>cTc	p.P351L	DNMT1_ENST00000359526.4_Missense_Mutation_p.P367L|DNMT1_ENST00000540357.1_Missense_Mutation_p.P351L			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	351	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	AATGCACTTGGGAGGGTGGGT	0.617000													6	74					0	0	0.001984	0	0
C22orf42	150297	broad.mit.edu	37	22	32547006	32547006	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:32547006C>T	ENST00000382097.3	-	6	538	c.465_splice	c.e6-1	p.E156_splice		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	156										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TCAGATATTTCCTGCAGTAAG	0.388000													4	57					0	0	0.000248	0	0
LTBP2	4053	broad.mit.edu	37	14	75016635	75016635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:75016635C>T	ENST00000261978.4	-	8	2106	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	LTBP2_ENST00000556690.1_Missense_Mutation_p.E574K|LTBP2_ENST00000557425.1_5'UTR	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	574	TB 1.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGCAGTCCTCCTGGGTAGTC	0.617000													11	47					0	0	0.000978	0	0
ERV3-1	2086	broad.mit.edu	37	7	64452203	64452203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:64452203G>A	ENST00000394323.2	-	2	1702	c.1202C>T	c.(1201-1203)tCt>tTt	p.S401F		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		401						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						ttggtaccaagaatggtttaa	0.473000													7	20					0	0	0.001984	0	0
DSG3	1830	broad.mit.edu	37	18	29056125	29056125	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:29056125C>T	ENST00000257189.4	+	16	2985	c.2902C>T	c.(2902-2904)Ccc>Tcc	p.P968S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	968					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGTGATCTGTCCCATTTCCAG	0.512000													5	76					0	0	0.000602	0	0
KCTD7	154881	broad.mit.edu	37	7	66103274	66103274	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:66103274C>T	ENST00000275532.3	+	3	533	c.349C>T	c.(349-351)Cca>Tca	p.P117S	KCTD7_ENST00000443322.1_Missense_Mutation_p.P117S	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	117	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AGGGGACCTCCCACCCAGGGA	0.587000													18	71					0	0	0.004990	0	0
CTNNA3	29119	broad.mit.edu	37	10	69366628	69366628	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:69366628T>G	ENST00000433211.1	-	3	453	c.279A>C	c.(277-279)gaA>gaC	p.E93D	CTNNA3_ENST00000373744.4_Missense_Mutation_p.E93D|CTNNA3_ENST00000545309.1_Missense_Mutation_p.E93D	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	93					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTTTGCGAACTTCCTCAAGTG	0.418000													9	83					0	0	0.004482	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47365943	47365943	+	RNA	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:47365943T>C	ENST00000505841.1	-	0	166					NR_002788.2																						CTTGTGGCCATAGAACCAGTG	0.473000													6	55					0	0	0.001168	0	0
CR1	1378	broad.mit.edu	37	1	207789980	207789980	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:207789980G>A	ENST00000367049.4	+	41	6722	c.6722G>A	c.(6721-6723)gGa>gAa	p.G2241E	CR1_ENST00000367051.1_Missense_Mutation_p.G1791E|CR1_ENST00000367052.1_Missense_Mutation_p.G1791E|CR1_ENST00000367053.1_Missense_Mutation_p.G1791E|CR1_ENST00000400960.2_Missense_Mutation_p.G1791E	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1791					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACTCCCTTTGGAGATATTCCC	0.438000													8	102					0	0	0.008291	0	0
RAG2	5897	broad.mit.edu	37	11	36615100	36615100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:36615100G>A	ENST00000311485.3	-	2	780	c.619C>T	c.(619-621)Cat>Tat	p.H207Y		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	207					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				ATAGAGACATGAAAAGATAGC	0.423000									Familial Hemophagocytic Lymphohistiocytosis				15	49					0	0	0.003163	0	0
OTOA	146183	broad.mit.edu	37	16	21689852	21689852	+	Missense_Mutation	SNP	C	C	T	rs144912852		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:21689852C>T	ENST00000388958.3	+	1	18	c.17C>T	c.(16-18)aCg>aTg	p.T6M	OTOA_ENST00000286149.4_Missense_Mutation_p.T6M	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	6					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CAGGAACCTACGACATACTCC	0.373000													6	57					0	0	0.004482	0	0
TMEM8B	51754	broad.mit.edu	37	9	35853186	35853186	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:35853186G>A	ENST00000377988.2	+	12	2303	c.1015G>A	c.(1015-1017)Gac>Aac	p.D339N	TMEM8B_ENST00000377991.4_Missense_Mutation_p.D339N	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	339					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding	p.D339H(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						TCTGCAGCTTGACCGACATGG	0.602000													16	92					0	0	0.004990	0	0
MAP6	4135	broad.mit.edu	37	11	75319271	75319271	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:75319271G>A	ENST00000434603.2	-	2	1066	c.1002C>T	c.(1000-1002)acC>acT	p.T334T	MAP6_ENST00000526740.1_Silent_p.T5T|MAP6_ENST00000304771.3_Silent_p.T334T	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	334						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					CACTGTAGCTGGTCTCATGAA	0.498000													7	45					0	0	0.003080	0	0
OR2L8	391190	broad.mit.edu	37	1	248112255	248112255	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248112255C>T	ENST00000357191.3	+	1	96	c.96C>T	c.(94-96)ttC>ttT	p.F32F	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCATTGTTTTCATTTTCCTGA	0.398000													9	146					0	0	0.004482	0	0
SPTA1	6708	broad.mit.edu	37	1	158590059	158590059	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158590059G>A	ENST00000368148.3	-	44	6498	c.6318C>T	c.(6316-6318)gaC>gaT	p.D2106D	SPTA1_ENST00000368147.3_Silent_p.D2103D	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2106					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TAATCTGCTGGTCTAGCTCCA	0.507000													5	62					0	0	0.001168	0	0
FRYL	285527	broad.mit.edu	37	4	48555248	48555248	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:48555248G>A	ENST00000537810.1	-	36	5023	c.4419C>T	c.(4417-4419)atC>atT	p.I1473I	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Silent_p.I1473I|FRYL_ENST00000358350.4_Silent_p.I1473I|FRYL_ENST00000507711.1_Silent_p.I1473I			O94915	FRYL_HUMAN	FRY-like	1473					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGACAGAAGGGATTTTATAGC	0.448000													5	50					0	0	0.001168	0	0
MUC17	140453	broad.mit.edu	37	7	100676513	100676513	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:100676513G>A	ENST00000306151.4	+	3	1880	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	606	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCTAGTGAAGCTAGTTC	0.473000													25	204					0	0	0.004656	0	0
ANK1	286	broad.mit.edu	37	8	41545688	41545688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:41545688C>T	ENST00000396942.1	-	35	4327	c.4244G>A	c.(4243-4245)gGt>gAt	p.G1415D	ANK1_ENST00000379758.2_Missense_Mutation_p.G1415D|ANK1_ENST00000347528.4_Missense_Mutation_p.G1415D|ANK1_ENST00000352337.4_Missense_Mutation_p.G1415D|ANK1_ENST00000265709.8_Missense_Mutation_p.G1456D|ANK1_ENST00000289734.7_Missense_Mutation_p.G1415D|ANK1_ENST00000396945.1_Missense_Mutation_p.G1415D			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1415	55 kDa regulatory domain.|Death.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCAGCTGAGACCGAGGTGCTC	0.512000													12	111					0	0	0.001855	0	0
SIMC1	375484	broad.mit.edu	37	5	175763726	175763726	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:175763726A>T	ENST00000443967.1	+	10	2525	c.2118A>T	c.(2116-2118)gaA>gaT	p.E706D	SIMC1_ENST00000332772.4_Missense_Mutation_p.E167D|SIMC1_ENST00000341199.6_Missense_Mutation_p.E291D|SIMC1_ENST00000430704.2_Missense_Mutation_p.E291D					SUMO-interacting motifs containing 1																		CACACAGAGAAATGTTCTTTA	0.448000													7	98					0	0	0.004482	0	0
OR2M3	127062	broad.mit.edu	37	1	248366744	248366744	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248366744C>T	ENST00000456743.1	+	1	413	c.375C>T	c.(373-375)gcC>gcT	p.A125A		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTACACTGCCATTTGCCACC	0.443000													18	174					0	0	0.007413	0	0
EGFR	1956	broad.mit.edu	37	7	55238901	55238901	+	Silent	SNP	G	G	A	rs146783627	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:55238901G>A	ENST00000275493.2	+	16	2091	c.1914G>A	c.(1912-1914)acG>acA	p.T638T	EGFR_ENST00000454757.2_Silent_p.T585T|EGFR_ENST00000455089.1_Silent_p.T593T|EGFR_ENST00000442591.1_Silent_p.T638T	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	638					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCTGTCCAACGAATGGGTAAG	0.443000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			11	54					0	0	0.001368	0	0
PLAA	9373	broad.mit.edu	37	9	26919513	26919513	+	Silent	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:26919513A>T	ENST00000397292.3	-	9	1629	c.1212T>A	c.(1210-1212)gtT>gtA	p.V404V	PLAA_ENST00000520884.1_Silent_p.V404V	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	404	PFU.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		CAATTGAGAAAACATAATCAA	0.313000													8	126					0	0	0.003080	0	0
PTPRO	5800	broad.mit.edu	37	12	15742453	15742453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:15742453C>T	ENST00000281171.4	+	25	3805	c.3475C>T	c.(3475-3477)Cat>Tat	p.H1159Y	PTPRO_ENST00000348962.2_Missense_Mutation_p.H1131Y|PTPRO_ENST00000544244.1_Missense_Mutation_p.H320Y|PTPRO_ENST00000445537.2_Missense_Mutation_p.H348Y|PTPRO_ENST00000442921.2_Missense_Mutation_p.H348Y|PTPRO_ENST00000542557.1_Missense_Mutation_p.H320Y	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1159	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CATTCGGGATCATGAGTTTGT	0.443000													15	77					0	0	0.003163	0	0
MIR498	574460	broad.mit.edu	37	19	54177496	54177496	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:54177496G>A	ENST00000385134.1	+	0	46					NR_030182.1																						TCAAGCCAGGGGGCGTTTTTC	0.453000													16	44					0	0	0.004007	0	0
TTC29	83894	broad.mit.edu	37	4	147741282	147741282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:147741282C>T	ENST00000513335.1	-	11	1373	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	TTC29_ENST00000325106.4_Missense_Mutation_p.E366K|TTC29_ENST00000398886.4_Missense_Mutation_p.E392K			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	366							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CTCACTTTTTCATTGTAGATG	0.328000													12	103					0	0	0.003163	0	0
CHIT1	1118	broad.mit.edu	37	1	203194880	203194880	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:203194880G>A	ENST00000367229.1	-	3	208	c.174C>T	c.(172-174)ttC>ttT	p.F58F	CHIT1_ENST00000535569.1_Silent_p.F68F|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Silent_p.F58F	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	58					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TCATGCCAGCGAAGGCGTAGA	0.572000													12	68					0	0	0.002450	0	0
ITGA4	3676	broad.mit.edu	37	2	182339977	182339977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:182339977G>A	ENST00000397033.2	+	4	948	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Missense_Mutation_p.R173Q	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	173					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CCTGATTTACGAACAGAACTG	0.348000													8	63					0	0	0.008291	0	0
ELN	2006	broad.mit.edu	37	7	73455557	73455557	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:73455557C>T	ENST00000252034.7	+	5	607	c.208C>T	c.(208-210)Ctt>Ttt	p.L70F	ELN_ENST00000357036.5_Missense_Mutation_p.L70F|ELN_ENST00000380575.4_Missense_Mutation_p.L60F|ELN_ENST00000380576.5_Missense_Mutation_p.L70F|ELN_ENST00000380584.4_Missense_Mutation_p.L70F|ELN_ENST00000320399.6_Missense_Mutation_p.L70F|ELN_ENST00000445912.1_Missense_Mutation_p.L70F|ELN_ENST00000320492.7_Intron|ELN_ENST00000458204.1_Missense_Mutation_p.L60F|ELN_ENST00000414324.1_Missense_Mutation_p.L60F|ELN_ENST00000380562.4_Missense_Mutation_p.L70F|ELN_ENST00000429192.1_Missense_Mutation_p.L70F|ELN_ENST00000380553.4_Missense_Mutation_p.L70F|ELN_ENST00000358929.4_Missense_Mutation_p.L70F	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	70					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TCCCGGAGGGCTTGCGGGTGC	0.582000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						55	191					0	0	0.003610	0	0
GALP	85569	broad.mit.edu	37	19	56694533	56694533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:56694533C>T	ENST00000357330.2	+	5	329	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	GALP_ENST00000440823.1_3'UTR	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	83					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		CCCTCCACAGCCCTCCAAGAG	0.502000													9	30					0	0	0.000978	0	0
C11orf40	143501	broad.mit.edu	37	11	4594648	4594648	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:4594648C>T	ENST00000307616.1	-	2	195	c.196G>A	c.(196-198)Gat>Aat	p.D66N		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	66										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATGAACACATCCTTATCTAAG	0.433000													4	31					0	0	0.000248	0	0
DAO	1610	broad.mit.edu	37	12	109292540	109292540	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:109292540G>A	ENST00000228476.3	+	9	985	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	DAO_ENST00000551281.1_Missense_Mutation_p.E195K	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	261					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						CACCATTTGGGAAGGCTGCTG	0.502000													6	35					0	0	0.001168	0	0
FURIN	5045	broad.mit.edu	37	15	91419063	91419063	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:91419063C>T	ENST00000268171.3	+	2	372	c.93C>T	c.(91-93)acC>acT	p.T31T		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	31					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AGGTCTTCACCAACACGTGGG	0.627000													20	139					0	0	0.001882	0	0
CFHR1	3078	broad.mit.edu	37	1	196799639	196799639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:196799639G>A	ENST00000320493.5	+	5	705	c.617G>A	c.(616-618)gGa>gAa	p.G206E	CFHR1_ENST00000367424.3_Missense_Mutation_p.G147E|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	206	Sushi 4.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GATTCTACGGGAAAATGTGGG	0.383000													14	84					0	0	0.002450	0	0
RPS27	6232	broad.mit.edu	37	1	153964547	153964547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:153964547C>T	ENST00000368567.4	+	4	271	c.233C>T	c.(232-234)tCc>tTc	p.S78F	RPS27_ENST00000493224.1_3'UTR	NM_001030.4	NP_001021.1	P42677	RS27_HUMAN	ribosomal protein S27	78					cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCAGGATGTTCCTTCAGGAGG	0.418000													8	95					0	0	0.004482	0	0
ZNF318	24149	broad.mit.edu	37	6	43308624	43308624	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:43308624G>A	ENST00000361428.2	-	9	3476	c.3399C>T	c.(3397-3399)atC>atT	p.I1133I	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1133					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AAAATCCACTGATGGGAACCA	0.448000													7	59					0	0	0.001984	0	0
MORC4	79710	broad.mit.edu	37	X	106184802	106184802	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:106184802G>A	ENST00000535534.1	-	16	2734	c.1927C>T	c.(1927-1929)Ccc>Tcc	p.P643S	MORC4_ENST00000355610.4_Silent_p.L907L|MORC4_ENST00000255495.7_Missense_Mutation_p.P895S			Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	0							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						CCAAGTGAGGGAGGACAGAAG	0.522000													9	18					0	0	0.006214	0	0
CEP192	55125	broad.mit.edu	37	18	13040926	13040926	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:13040926T>G	ENST00000506447.1	+	14	1987	c.1907T>G	c.(1906-1908)aTg>aGg	p.M636R	CEP192_ENST00000430049.2_Missense_Mutation_p.M161R|CEP192_ENST00000325971.8_Missense_Mutation_p.M40R	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	231										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAAAAAGAAATGGCTCATCTT	0.338000													11	64					0	0	0.001855	0	0
KPNA3	3839	broad.mit.edu	37	13	50307143	50307143	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:50307143G>A	ENST00000261667.3	-	3	568	c.154C>T	c.(154-156)Ccc>Tcc	p.P52S		NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN	karyopherin alpha 3 (importin alpha 4)	52	IBB.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		TCTTCTTGGGGAACATTTCTC	0.289000													4	63					0	0	0.000248	0	0
SEMA4F	10505	broad.mit.edu	37	2	74883761	74883761	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:74883761G>A	ENST00000357877.2	+	2	395	c.246G>A	c.(244-246)cgG>cgA	p.R82R	SEMA4F_ENST00000339773.5_Silent_p.R82R	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	82	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TTGGCGCCCGGGACACCATCT	0.557000													5	57					0	0	0.000602	0	0
FAM71A	149647	broad.mit.edu	37	1	212798400	212798400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:212798400G>A	ENST00000294829.3	+	1	612	c.181G>A	c.(181-183)Gat>Aat	p.D61N	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	61										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AGAAGTGATTGATGTGCACAA	0.527000													30	70					0	0	0.002445	0	0
OR2W3	343171	broad.mit.edu	37	1	248059536	248059536	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248059536C>T	ENST00000537741.1	+	3	905	c.648C>T	c.(646-648)ctC>ctT	p.L216L	OR2W3_ENST00000360358.3_Silent_p.L216L			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTATCCTGCTCTCTTACAGCT	0.582000													11	99					0	0	0.001855	0	0
ZNF638	27332	broad.mit.edu	37	2	71576268	71576268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:71576268C>T	ENST00000409544.1	+	2	814	c.184C>T	c.(184-186)Cag>Tag	p.Q62*	ZNF638_ENST00000355812.3_Nonsense_Mutation_p.Q62*|ZNF638_ENST00000264447.4_Nonsense_Mutation_p.Q62*|ZNF638_ENST00000377802.2_Nonsense_Mutation_p.Q62*|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	62					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGAATCTTATCAGAACATGGG	0.443000													8	41					0	0	0.004482	0	0
SYT10	341359	broad.mit.edu	37	12	33579224	33579224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:33579224C>T	ENST00000228567.3	-	2	654	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	120						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GCTGGCTTTTCATTTTCCTTA	0.398000													19	87					0	0	0.001523	0	0
SIM1	6492	broad.mit.edu	37	6	100841738	100841738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:100841738C>T	ENST00000369208.3	-	11	1977	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	SIM1_ENST00000262901.4_Missense_Mutation_p.E399K			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	399	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGATCAGATTCCGATCTTTCT	0.507000													4	38					0	0	0.001168	0	0
RHO	6010	broad.mit.edu	37	3	129247885	129247885	+	Silent	SNP	C	C	T	rs149615742	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:129247885C>T	ENST00000296271.3	+	1	403	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	103					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	ATGGATACTTCGTCTTCGGGC	0.602000													10	78					0	0	0.000978	0	0
CTSL3P	392360	broad.mit.edu	37	9	90387866	90387866	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:90387866G>A	ENST00000354530.2	+	0	37					NR_027917.1																						GGAATACAGGGAAGGGAAACA	0.473000													5	40					0	0	0.001984	0	0
KIAA0368	23392	broad.mit.edu	37	9	114135473	114135473	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:114135473T>C	ENST00000259335.4	-	42	4846	c.4847A>G	c.(4846-4848)aAt>aGt	p.N1616S	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Missense_Mutation_p.N1438S	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ATACCACCCATTGAGCTTCTG	0.333000													11	139					0	0	0.003163	0	0
ZFP14	57677	broad.mit.edu	37	19	36831496	36831496	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:36831496A>G	ENST00000270001.7	-	5	1347	c.1232T>C	c.(1231-1233)cTt>cCt	p.L411P		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					GTGTGAAATAAGCTGTGAGTA	0.403000													8	49					0	0	0.003080	0	0
SERPINA7	6906	broad.mit.edu	37	X	105277500	105277500	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:105277500C>T	ENST00000327674.4	-	4	1574	c.1239G>A	c.(1237-1239)acG>acA	p.T413T	SERPINA7_ENST00000372563.1_Silent_p.T413T			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	413					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.T413T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	ACTACGCTTCCGTTGGGTTCA	0.393000													11	79					0	0	0.008291	0	0
CCDC63	160762	broad.mit.edu	37	12	111336895	111336895	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:111336895G>A	ENST00000308208.5	+	10	1550	c.1308G>A	c.(1306-1308)ggG>ggA	p.G436G	CCDC63_ENST00000545036.1_Silent_p.G396G|CCDC63_ENST00000552694.1_Silent_p.G357G	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	436										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GGGAGACGGGGAAAGTCACTG	0.473000													4	21					0	0	0.000602	0	0
CRB1	23418	broad.mit.edu	37	1	197396979	197396979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:197396979G>A	ENST00000367397.1	+	3	1525	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	CRB1_ENST00000367399.2_Missense_Mutation_p.E730K|CRB1_ENST00000544212.1_Missense_Mutation_p.E323K|CRB1_ENST00000535699.1_Missense_Mutation_p.E773K|CRB1_ENST00000367400.3_Missense_Mutation_p.E842K|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	842					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GCAAGAGACTGAACTTAATGG	0.388000													7	32					0	0	0.006214	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558439	129558439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:129558439C>T	ENST00000422113.2	-	9	3607	c.3281G>A	c.(3280-3282)aGg>aAg	p.R1094K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.R632K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1094						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTCATGTAACCTCTCCATGTA	0.502000													7	75					0	0	0.004482	0	0
INTS7	25896	broad.mit.edu	37	1	212148585	212148585	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:212148585C>T	ENST00000366994.3	-	13	1842	c.1738G>A	c.(1738-1740)Gag>Aag	p.E580K	INTS7_ENST00000366993.3_Missense_Mutation_p.E580K|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.E580K|INTS7_ENST00000440600.2_Missense_Mutation_p.E531K	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	580					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TAATTTTCCTCTTGCAACCCA	0.383000													14	74					0	0	0.002450	0	0
CENPE	1062	broad.mit.edu	37	4	104066729	104066729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:104066729G>A	ENST00000265148.3	-	31	4612	c.4523C>T	c.(4522-4524)tCa>tTa	p.S1508L	CENPE_ENST00000380026.3_Missense_Mutation_p.S1483L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1508					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGAATGGTTGATATTTCAGT	0.368000													12	62					0	0	0.001855	0	0
RGS9	8787	broad.mit.edu	37	17	63198127	63198127	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:63198127C>G	ENST00000449996.3	+	14	1056	c.984C>G	c.(982-984)ttC>ttG	p.F328L	RGS9_ENST00000443584.3_Missense_Mutation_p.F328L|RGS9_ENST00000262406.9_Missense_Mutation_p.F331L	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	331	RGS.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						ATCTGGGATTCTGGGAAGCCT	0.483000													6	54					0	0	0.006214	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884669	228884669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:228884669G>A	ENST00000392056.3	-	7	947	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P301S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	301						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTGGCTGAGGGATCTAGACTC	0.403000													38	110					0	0	0.004878	0	0
CCDC11	220136	broad.mit.edu	37	18	47788366	47788366	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:47788366C>T	ENST00000398545.4	-	2	410	c.293G>A	c.(292-294)cGa>cAa	p.R98Q		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	98										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TTACTTATTTCGTCTTTCTTC	0.393000													6	60					0	0	0.001168	0	0
CHD5	26038	broad.mit.edu	37	1	6169886	6169886	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:6169886C>T	ENST00000262450.3	-	38	5646	c.5547G>A	c.(5545-5547)ggG>ggA	p.G1849G	CHD5_ENST00000378021.1_Silent_p.G706G	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1849					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CAGGCTTGTTCCCAGCAAGGG	0.682000													11	118					0	0	0.000978	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900270	151900270	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:151900270G>A	ENST00000393900.3	-	3	884	c.531C>T	c.(529-531)atC>atT	p.I177I	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.I177I|MAGEA12_ENST00000357916.4_Silent_p.I177I	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	177	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTGACAAGGATGTACAAGT	0.557000													11	61					0	0	0.000978	0	0
FER1L6	654463	broad.mit.edu	37	8	125103772	125103772	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:125103772G>A	ENST00000522917.1	+	34	4706	c.4500G>A	c.(4498-4500)caG>caA	p.Q1500Q	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.Q1500Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1500						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGAAAATACAGATAGGAAACC	0.443000													11	43					0	0	0.008291	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151054870	151054870	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:151054870C>T	ENST00000367328.1	+	3	365	c.53C>T	c.(52-54)tCg>tTg	p.S18L	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.S18L	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	18					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACATCATCCTCGGCCTCTTCC	0.547000													8	73					0	0	0.003080	0	0
UACA	55075	broad.mit.edu	37	15	70969480	70969480	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:70969480C>T	ENST00000322954.6	-	12	1185		c.e12-1		UACA_ENST00000379983.2_Splice_Site|UACA_ENST00000539319.1_Splice_Site|UACA_ENST00000560441.1_Splice_Site	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats							cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CCATAACTTCCTAAATTTAAA	0.274000													12	51					0	0	0.002450	0	0
ZNF408	79797	broad.mit.edu	37	11	46723068	46723068	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:46723068C>T	ENST00000311764.2	+	2	402	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAAGAGCCTTCCCCGGGGCTT	0.667000													8	44					0	0	0.006214	0	0
CD163L1	283316	broad.mit.edu	37	12	7531617	7531617	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:7531617C>T	ENST00000313599.3	-	9	2385	c.2328G>A	c.(2326-2328)caG>caA	p.Q776Q	CD163L1_ENST00000416109.2_Silent_p.Q786Q|CD163L1_ENST00000396630.1_Silent_p.Q776Q|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	776	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GACACGCAGTCTGTTTCCACT	0.368000													5	77					0	0	0.001168	0	0
MCTP2	55784	broad.mit.edu	37	15	94899422	94899422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:94899422G>A	ENST00000357742.4	+	8	1062	c.1062G>A	c.(1060-1062)tgG>tgA	p.W354*	MCTP2_ENST00000543482.1_Nonsense_Mutation_p.W354*|MCTP2_ENST00000451018.3_Nonsense_Mutation_p.W354*|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000557742.1_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	354	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ACCAACTCTGGAACGGGATTA	0.393000													11	90					0	0	0.001368	0	0
CYYR1	116159	broad.mit.edu	37	21	27945287	27945287	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:27945287G>A	ENST00000435845.2	-	1	316	c.297C>T	c.(295-297)ttC>ttT	p.F99F	CYYR1_ENST00000400043.3_5'UTR|CYYR1_ENST00000299340.4_5'UTR			Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	140						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GGCTTGGAGCGAAGGGAGAGC	0.642000													6	19					0	0	0.003080	0	0
SIMC1	375484	broad.mit.edu	37	5	175740750	175740750	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:175740750A>T	ENST00000443967.1	+	7	2141	c.1734A>T	c.(1732-1734)gaA>gaT	p.E578D	SIMC1_ENST00000332772.4_Missense_Mutation_p.E39D|SIMC1_ENST00000341199.6_Missense_Mutation_p.E163D|SIMC1_ENST00000430704.2_Missense_Mutation_p.E163D					SUMO-interacting motifs containing 1																		AGACCCTAGAAGATGACTTTC	0.507000													22	139					0	0	0.002299	0	0
DIO2	1734	broad.mit.edu	37	14	80669237	80669237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:80669237G>A	ENST00000557010.1	-	4	1002	c.617C>T	c.(616-618)cCc>cTc	p.P206L	DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.P206L|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000555750.1_Missense_Mutation_p.P242L	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	206					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TCGGCACTGGGGCGGCAAGGA	0.542000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	56					0	0	0.001368	0	0
PASD1	139135	broad.mit.edu	37	X	150840204	150840204	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:150840204C>T	ENST00000370357.4	+	13	1635	c.1390C>T	c.(1390-1392)Ctc>Ttc	p.L464F		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	464						nucleus	signal transducer activity	p.L464V(4)|p.L464F(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCAACTCTCTCAAAAACAC	0.463000													6	41					0	0	0.001984	0	0
HTR5A	3361	broad.mit.edu	37	7	154862641	154862641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:154862641C>T	ENST00000287907.2	+	1	608	c.32C>T	c.(31-33)tCc>tTc	p.S11F	AC093726.4_ENST00000493904.1_Intron|AC093726.4_ENST00000395731.2_Intron|AC093726.4_ENST00000543018.1_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	11						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		ACCTCCTTTTCCCTCTCCACC	0.597000													14	91					0	0	0.003163	0	0
OR2C3	81472	broad.mit.edu	37	1	247695169	247695169	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:247695169G>A	ENST00000366487.3	-	2	1006	c.645C>T	c.(643-645)atC>atT	p.I215I	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AAGAGACCAGGATGAGCCCCA	0.552000													14	26					0	0	0.003163	0	0
OTOP3	347741	broad.mit.edu	37	17	72943324	72943324	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:72943324C>T	ENST00000328801.4	+	6	1374	c.1374C>T	c.(1372-1374)atC>atT	p.I458I		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	458						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TGCTGCTCATCCTGCAGCACA	0.627000													4	16					0	0	0.000248	0	0
FRMPD2	143162	broad.mit.edu	37	10	49386156	49386156	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:49386156G>A	ENST00000374201.3	-	22	3131	c.2829C>T	c.(2827-2829)atC>atT	p.I943I	FRMPD2_ENST00000305531.3_Silent_p.I918I|FRMPD2_ENST00000407470.4_Silent_p.I911I|FRMPD2_ENST00000463706.1_5'UTR	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	943					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CACCAGCACTGATTTCTGGAG	0.408000													5	19					0	0	0.001168	0	0
FMNL1	752	broad.mit.edu	37	17	43323321	43323321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:43323321G>A	ENST00000331495.3	+	24	3407	c.3071G>A	c.(3070-3072)gGg>gAg	p.G1024E	FMNL1_ENST00000328118.3_Missense_Mutation_p.G1024E|CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.G602E	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	1024					actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CCGGGCAAAGGGGAGCCCCCA	0.627000													3	18					0	0	0.004672	0	0
SSPO	23145	broad.mit.edu	37	7	149488614	149488614	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:149488614C>T	ENST00000378016.2	+	0	5065							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCCCCTCCCCAGAAGAGCA	0.721000													4	7					0	0	0.001984	0	0
IGSF10	285313	broad.mit.edu	37	3	151161445	151161445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:151161445C>T	ENST00000282466.3	-	5	5289	c.5290G>A	c.(5290-5292)Gaa>Aaa	p.E1764K		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1764	Ig-like C2-type 4.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CACTTCAGTTCCACAGTGCTT	0.507000													5	48					0	0	0.001168	0	0
GRID1	2894	broad.mit.edu	37	10	87362151	87362151	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:87362151G>A	ENST00000327946.7	-	16	2994	c.2909C>T	c.(2908-2910)tCa>tTa	p.S970L	GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.S541L	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	970						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCCGTTGGGTGACCTGTGTTT	0.667000										Multiple Myeloma(13;0.14)			7	54					0	0	0.004482	0	0
CCL26	10344	broad.mit.edu	37	7	75399065	75399065	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:75399065C>T	ENST00000394905.2	-	4	488	c.231G>A	c.(229-231)agG>agA	p.R77R	CCL26_ENST00000005180.4_Silent_p.R77R	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26	77					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			lung(3)	3						CCCATTTTTTCCTTGGATGGG	0.438000													5	37					0	0	0.001168	0	0
NRG3	10718	broad.mit.edu	37	10	84733607	84733607	+	Missense_Mutation	SNP	G	G	A	rs144817913		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:84733607G>A	ENST00000372142.2	+	8	959	c.685G>A	c.(685-687)Ggc>Agc	p.G229S	NRG3_ENST00000404576.2_Missense_Mutation_p.G254S|NRG3_ENST00000372141.2_Missense_Mutation_p.G450S|NRG3_ENST00000404547.1_Missense_Mutation_p.G450S|NRG3_ENST00000545131.1_Missense_Mutation_p.G100S|NRG3_ENST00000556918.1_Missense_Mutation_p.G280S|NRG3_ENST00000537893.1_Missense_Mutation_p.G100S	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	450	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AAGTTTTGTCGGCCCCCAGTC	0.502000													7	48					0	0	0.001984	0	0
TJP3	27134	broad.mit.edu	37	19	3730061	3730061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:3730061C>T	ENST00000541714.2	+	4	656	c.194C>T	c.(193-195)tCc>tTc	p.S65F	TJP3_ENST00000539908.2_Missense_Mutation_p.S29F|TJP3_ENST00000589378.1_Missense_Mutation_p.S74F|TJP3_ENST00000587686.1_Missense_Mutation_p.S84F|TJP3_ENST00000382008.3_Missense_Mutation_p.S65F|TJP3_ENST00000262968.9_Missense_Mutation_p.S84F	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	65	PDZ 1.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AACGGGGTTTCCATGGAGAAT	0.587000													14	69					0	0	0.003163	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394920	233394920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:233394920C>T	ENST00000258229.8	-	5	922	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	230						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCTCCTCTTTCCTTTCCTTTA	0.507000													7	104					0	0	0.003080	0	0
ERC2	26059	broad.mit.edu	37	3	56330403	56330403	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:56330403G>A	ENST00000288221.6	-	3	973	c.718C>T	c.(718-720)Cac>Tac	p.H240Y		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	240						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGGAGGAGGTGGTTGAGGTCT	0.562000													9	52					0	0	0.006214	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713419	30713419	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:30713419C>T	ENST00000295754.5	+	4	1126	c.744C>T	c.(742-744)acC>acT	p.T248T	TGFBR2_ENST00000359013.4_Silent_p.T273T	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	248	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AGCTGGACACCCTGGTGGGGA	0.522000													5	34					0	0	0.000602	0	0
TARBP1	6894	broad.mit.edu	37	1	234565932	234565932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:234565932G>A	ENST00000040877.1	-	15	2509	c.2510C>T	c.(2509-2511)cCc>cTc	p.P837L		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	837					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GCTTTCCAGGGGCCCAGCATG	0.572000													7	132					0	0	0.001984	0	0
OR2T10	127069	broad.mit.edu	37	1	248756259	248756259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248756259C>T	ENST00000330500.2	-	1	841	c.811G>A	c.(811-813)Gat>Aat	p.D271N		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D271Y(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GACATCATATCTTTCTCAGGA	0.423000													11	34					0	0	0.000978	0	0
PAGE4	9506	broad.mit.edu	37	X	49597195	49597195	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:49597195C>T	ENST00000218068.6	+	4	313	c.234C>T	c.(232-234)ggC>ggT	p.G78G	PAGE4_ENST00000376141.1_Silent_p.G78G	NM_007003.2	NP_008934.1	O60829	GAGC1_HUMAN	P antigen family, member 4 (prostate associated)	78												Ovarian(276;0.236)					GTGGAGATGGCTCTGATGTAA	0.383000													4	20					0	0	0.000248	0	0
FGF12	2257	broad.mit.edu	37	3	191888276	191888276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:191888276G>A	ENST00000454309.2	-	4	1409	c.584C>T	c.(583-585)tCa>tTa	p.S195L	FGF12_ENST00000264730.3_Missense_Mutation_p.S133L|FGF12_ENST00000450716.1_Missense_Mutation_p.S133L|FGF12_ENST00000445105.1_Missense_Mutation_p.S133L|FGF12_ENST00000430714.1_Missense_Mutation_p.S96L	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	195					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		AAAATGTGATGAGGGCTTGGT	0.438000													14	72					0	0	0.001855	0	0
PMFBP1	83449	broad.mit.edu	37	16	72163055	72163055	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:72163055C>T	ENST00000537465.1	-	13	2033	c.1875G>A	c.(1873-1875)cgG>cgA	p.R625R	PMFBP1_ENST00000355636.6_Silent_p.R475R|PMFBP1_ENST00000237353.10_Silent_p.R620R			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	625										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TCAACTGCTCCCGTTTGTCCT	0.463000													28	241					0	0	0.005443	0	0
AAMP	14	broad.mit.edu	37	2	219134173	219134173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:219134173G>A	ENST00000248450.4	-	2	376	c.206C>T	c.(205-207)cCc>cTc	p.P69L	AAMP_ENST00000444053.1_Missense_Mutation_p.P70L|AAMP_ENST00000420660.1_Missense_Mutation_p.P50L			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	69					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTTCCTGGGGTTCTAGAAC	0.572000													6	47					0	0	0.001168	0	0
ABCA4	24	broad.mit.edu	37	1	94476400	94476400	+	Silent	SNP	G	G	A	rs61750635		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:94476400G>A	ENST00000370225.3	-	40	5756	c.5670C>T	c.(5668-5670)ttC>ttT	p.F1890F	ABCA4_ENST00000535881.1_Silent_p.F9F|ABCA4_ENST00000536513.1_Silent_p.F160F|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1890			Missing (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGTCAGGAGGAAGTACACCA	0.592000													4	32					0	0	0.000602	0	0
ASAH2	56624	broad.mit.edu	37	10	52005073	52005073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:52005073G>A	ENST00000395526.3	-	2	268	c.269C>T	c.(268-270)aCc>aTc	p.T90I	ASAH2_ENST00000447815.1_Missense_Mutation_p.T90I|ASAH2_ENST00000329428.6_Missense_Mutation_p.T71I	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	90					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						AGACTCTGGGGTTAAAGGCAC	0.537000													27	114					0	0	0.003954	0	0
PAPPA	5069	broad.mit.edu	37	9	118950190	118950190	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:118950190C>T	ENST00000328252.3	+	2	1542	c.1173C>T	c.(1171-1173)atC>atT	p.I391I		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	391	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AATACAACATCTCCTGGGAGC	0.562000													8	32					0	0	0.004482	0	0
PRDM9	56979	broad.mit.edu	37	5	23526486	23526486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:23526486C>T	ENST00000296682.3	+	11	1471	c.1289C>T	c.(1288-1290)cCc>cTc	p.P430L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	430					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.P430H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCAGAGAATCCCTGCCCAGGG	0.453000										HNSCC(3;0.000094)			10	45					0	0	0.001855	0	0
OIT3	170392	broad.mit.edu	37	10	74684185	74684185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:74684185C>T	ENST00000334011.5	+	7	1368	c.1150C>T	c.(1150-1152)Cat>Tat	p.H384Y		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	384	ZP.					nuclear envelope	calcium ion binding	p.H384Y(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GAGCCGAAATCATGGGATCTT	0.517000													13	54					0	0	0.001368	0	0
FAM129A	116496	broad.mit.edu	37	1	184787840	184787840	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:184787840A>G	ENST00000367511.3	-	9	1298	c.1105T>C	c.(1105-1107)Ttt>Ctt	p.F369L	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	369					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCTTTCTCAAAGAGTACACGT	0.512000													35	101					0	0	0.003271	0	0
DOPEY2	9980	broad.mit.edu	37	21	37605195	37605195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:37605195C>T	ENST00000399151.3	+	15	2529	c.2444C>T	c.(2443-2445)tCc>tTc	p.S815F		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	815					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTGGCCATTTCCACTCTGCTG	0.488000													10	77					0	0	0.001368	0	0
FAM47C	442444	broad.mit.edu	37	X	37028490	37028490	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:37028490G>A	ENST00000358047.3	+	1	2059	c.2007G>A	c.(2005-2007)gaG>gaA	p.E669E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	669										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCCCCCGGAGCCCCCCGAGA	0.642000													8	16					0	0	0.008291	0	0
FKBP6	8468	broad.mit.edu	37	7	72745747	72745747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:72745747C>T	ENST00000252037.4	+	5	625	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C	FKBP6_ENST00000413573.2_Missense_Mutation_p.R156C|FKBP6_ENST00000431982.2_Missense_Mutation_p.R181C	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	186					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.R186C(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCGCCAGAATCGTTTCTATGA	0.423000													19	75					0	0	0.001882	0	0
MFHAS1	9258	broad.mit.edu	37	8	8748266	8748266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:8748266G>A	ENST00000276282.6	-	1	2889	c.2303C>T	c.(2302-2304)cCg>cTg	p.P768L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	768										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CGCCATGGGCGGGGAGCTTTC	0.612000													4	31					0	0	0.000602	0	0
SLC17A2	10246	broad.mit.edu	37	6	25917050	25917050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:25917050G>A	ENST00000377850.3	-	8	1317	c.793C>T	c.(793-795)Ccc>Tcc	p.P265S	SLC17A2_ENST00000265425.3_Missense_Mutation_p.P265S|SLC17A2_ENST00000360488.3_Missense_Mutation_p.P265S			O00624	NPT3_HUMAN	solute carrier family 17, member 2	265					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GCCTTTATGGGGACAGCTCGT	0.493000													4	35					0	0	0.000248	0	0
ABCG2	9429	broad.mit.edu	37	4	89018718	89018718	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:89018718T>G	ENST00000237612.3	-	13	2079	c.1534A>C	c.(1534-1536)Acc>Ccc	p.T512P	ABCG2_ENST00000515655.1_Missense_Mutation_p.T512P	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	512	ABC transmembrane type-2.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	ATCATAAGGGTAAACATCATA	0.458000													8	28					0	0	0.004482	0	0
PLXNA4	91584	broad.mit.edu	37	7	131982903	131982903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:131982903C>T	ENST00000359827.3	-	4	2412	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D484N			Q9HCM2	PLXA4_HUMAN	plexin A4	484	Sema.					integral to membrane|intracellular|plasma membrane		p.D484Y(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAGGCCATATCCCGGAGGACT	0.577000													14	61					0	0	0.003163	0	0
ATP5I	521	broad.mit.edu	37	4	667114	667114	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:667114C>T	ENST00000304312.4	-	3	258	c.168G>A	c.(166-168)cgG>cgA	p.R56R	ATP5I_ENST00000506525.1_5'UTR	NM_007100.3	NP_009031.1	P56385	ATP5I_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E	56					ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity			lung(1)|skin(1)	2						CTCTGGCAATCCGTTTCAGTT	0.473000													8	44					0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	9084607	9084607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:9084607G>A	ENST00000397910.4	-	1	7411	c.7208C>T	c.(7207-7209)tCc>tTc	p.S2403F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2403	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGATGGGGAGGAACTTGCTGT	0.458000													8	20					0	0	0.003080	0	0
GP2	2813	broad.mit.edu	37	16	20328642	20328642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:20328642C>T	ENST00000302555.5	-	8	1458	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	GP2_ENST00000381360.5_Missense_Mutation_p.E293K|GP2_ENST00000381362.4_Missense_Mutation_p.E440K|GP2_ENST00000341642.5_Missense_Mutation_p.E290K			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	440	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AACCGGCTTTCCGAGGACTGC	0.468000													4	51					0	0	0.000602	0	0
WDR38	401551	broad.mit.edu	37	9	127618151	127618151	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:127618151A>C	ENST00000373574.1	+	4	375	c.319A>C	c.(319-321)Agt>Cgt	p.S107R		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	107										breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TCACCAACGGAGTGTGGAGAC	0.627000											OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	77					0	0	0.001168	0	0
HAS2	3037	broad.mit.edu	37	8	122626661	122626661	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:122626661G>A	ENST00000303924.4	-	4	1884	c.1347C>T	c.(1345-1347)ccC>ccT	p.P449P		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	449						integral to plasma membrane	hyaluronan synthase activity	p.P449P(2)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			ACATCTTGGCGGGAAGTAAAC	0.408000													45	74					0	0	0.003214	0	0
VWA5A	4013	broad.mit.edu	37	11	124012337	124012337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:124012337C>T	ENST00000456829.2	+	16	2163	c.1912C>T	c.(1912-1914)Cct>Tct	p.P638S	VWA5A_ENST00000360334.4_Silent_p.L399L|VWA5A_ENST00000392748.1_Missense_Mutation_p.P638S	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	638										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TGACCGTCCTCCTTCTGCATC	0.478000													11	52					0	0	0.001368	0	0
FAIM3	9214	broad.mit.edu	37	1	207086368	207086368	+	Silent	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:207086368T>C	ENST00000367091.3	-	3	536	c.393A>G	c.(391-393)gaA>gaG	p.E131E	FAIM3_ENST00000442471.2_Silent_p.E19E|FAIM3_ENST00000420007.2_Silent_p.E131E|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	131					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TTGGCTGCTCTTCCCATGATG	0.468000											OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	246					0	0	0.004990	0	0
SLC20A2	6575	broad.mit.edu	37	8	42294758	42294758	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:42294758G>A	ENST00000342228.3	-	8	1641	c.1272C>T	c.(1270-1272)tcC>tcT	p.S424S	SLC20A2_ENST00000520262.1_Silent_p.S424S|SLC20A2_ENST00000520179.1_Silent_p.S424S	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	424					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCCTCTTCTTGGAGTAGGACA	0.632000													8	39					0	0	0.003080	0	0
FLG2	388698	broad.mit.edu	37	1	152329352	152329352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:152329352C>T	ENST00000388718.5	-	3	982	c.910G>A	c.(910-912)Gga>Aga	p.G304R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	304	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTGCCCTCCAAATCTATGT	0.483000													10	131					0	0	0.000978	0	0
FLT4	2324	broad.mit.edu	37	5	180055958	180055958	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:180055958G>A	ENST00000261937.6	-	8	1105	c.1027C>T	c.(1027-1029)Ctg>Ttg	p.L343L	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.L343L|FLT4_ENST00000393347.3_Silent_p.L343L	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	343	Ig-like C2-type 4.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GTGGCCTCCAGGATGGGTCCT	0.622000													6	27					0	0	0.001984	0	0
IDO2	169355	broad.mit.edu	37	8	39873104	39873104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:39873104C>T	ENST00000502986.2	+	11	1488	c.1246C>T	c.(1246-1248)Ctt>Ttt	p.L416F	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Missense_Mutation_p.L403F	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	403					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GGAGTCAATCCTTCACCCACG	0.577000													12	56					0	0	0.001368	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920223	155920223	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:155920223G>A	ENST00000368316.1	-	25	3140	c.2670C>T	c.(2668-2670)gtC>gtT	p.V890V	ARHGEF2_ENST00000368315.3_Silent_p.V919V|ARHGEF2_ENST00000313667.4_Silent_p.V917V|ARHGEF2_ENST00000313695.7_Silent_p.V890V|ARHGEF2_ENST00000361247.4_Silent_p.V918V			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	918					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGTTTCGATGGACAGAGCGAG	0.597000													11	63					0	0	0.001855	0	0
CD2	914	broad.mit.edu	37	1	117311214	117311214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:117311214C>T	ENST00000369478.3	+	5	973	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	289	Pro-rich.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	ACCTGGTCATCGTTCCCAGGC	0.587000													6	33					0	0	0.001984	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140616324	140616324	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140616324C>T	ENST00000526308.1	+	0	2387					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						TGTCCCTTTCCAGGGCATCTG	0.627000													23	52					0	0	0.002299	0	0
OBSL1	23363	broad.mit.edu	37	2	220430018	220430018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:220430018C>T	ENST00000404537.1	-	6	2409	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K	OBSL1_ENST00000373876.1_Missense_Mutation_p.E785K|OBSL1_ENST00000373873.4_Missense_Mutation_p.E785K|OBSL1_ENST00000265318.4_Missense_Mutation_p.E785K|OBSL1_ENST00000603926.1_Missense_Mutation_p.E785K|OBSL1_ENST00000289656.3_Missense_Mutation_p.E372K	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	785	Ig-like 5.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CACTCAAACTCGCCACTGTCC	0.597000											OREG0003987	type=REGULATORY REGION|Gene=BC061909|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	17					0	0	0.000602	0	0
LEO1	123169	broad.mit.edu	37	15	52245340	52245340	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:52245340C>T	ENST00000299601.5	-	8	1521	c.1461G>A	c.(1459-1461)acG>acA	p.T487T	LEO1_ENST00000315141.5_Silent_p.T427T	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	487					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		AGGTGAGTTTCGTTTTAAAGA	0.378000													4	23					0	0	0.000602	0	0
OR52E6	390078	broad.mit.edu	37	11	5862319	5862319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:5862319G>A	ENST00000329322.5	-	1	808	c.809C>T	c.(808-810)cCc>cTc	p.P270L	OR52E6_ENST00000379946.2_Missense_Mutation_p.P274L|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATATATTGGGGAATATCATG	0.413000													5	57					0	0	0.000602	0	0
FGF14	2259	broad.mit.edu	37	13	102527575	102527575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:102527575C>T	ENST00000376131.4	-	2	375	c.280G>A	c.(280-282)Gga>Aga	p.G94R	FGF14_ENST00000376143.4_Missense_Mutation_p.G89R|FGF14_ENST00000468052.1_5'UTR	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	89					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCGAGAGCTCCATCGGGGTGC	0.448000													11	48					0	0	0.001368	0	0
ZNF470	388566	broad.mit.edu	37	19	57086037	57086037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:57086037C>T	ENST00000330619.8	+	5	904	c.218C>T	c.(217-219)tCc>tTc	p.S73F	ZNF470_ENST00000601902.1_Missense_Mutation_p.S73F|ZNF470_ENST00000391709.3_Missense_Mutation_p.S73F	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S73F(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GATGTGATCTCCTTACTGGAG	0.413000													15	22					0	0	0.004990	0	0
A1CF	29974	broad.mit.edu	37	10	52569699	52569699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:52569699C>T	ENST00000395489.2	-	14	1963	c.1567G>A	c.(1567-1569)Gat>Aat	p.D523N	A1CF_ENST00000282641.2_Missense_Mutation_p.D530N|A1CF_ENST00000373997.3_Missense_Mutation_p.D522N|A1CF_ENST00000374001.1_Missense_Mutation_p.D522N|A1CF_ENST00000395495.1_Missense_Mutation_p.D475N|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373995.3_Missense_Mutation_p.D530N|A1CF_ENST00000373993.1_Missense_Mutation_p.D530N	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	530					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						ATGGTGCCATCGCCTCCATCA	0.547000													7	47					0	0	0.003080	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474698	140474698	+	Silent	SNP	C	C	T	rs11956826		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140474698C>T	ENST00000194155.4	+	1	472	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		108	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTACCTTTCCAGGTGTTAC	0.473000													7	40					0	0	0.001984	0	0
LY6G5B	58496	broad.mit.edu	37	6	31639771	31639771	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:31639771C>T	ENST00000375864.4	+	3	1102	c.318C>T	c.(316-318)tcC>tcT	p.S106S	CSNK2B-LY6G5B-1181_ENST00000375880.2_3'UTR|LY6G5B_ENST00000409525.1_Silent_p.S51S	NM_021221.2	NP_067044.2	Q8NDX9	LY65B_HUMAN	lymphocyte antigen 6 complex, locus G5B	106	UPAR/Ly6.					extracellular region				lung(4)	4						ATTGCAACTCCTGGTCAAGCC	0.562000													36	324					0	0	0.006230	0	0
NYAP2	57624	broad.mit.edu	37	2	226446813	226446813	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:226446813C>T	ENST00000272907.6	+	4	1093	c.680C>T	c.(679-681)tCc>tTc	p.S227F	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	227																	CGGGACTCCTCCTTGTCCCAG	0.582000													14	118					0	0	0.004007	0	0
CD33	945	broad.mit.edu	37	19	51729197	51729197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:51729197C>T	ENST00000436584.2	+	2	231	c.176C>T	c.(175-177)tCc>tTc	p.S59F	CD33_ENST00000262262.4_Missense_Mutation_p.S186F|CD33_ENST00000421133.2_Missense_Mutation_p.S59F|CD33_ENST00000391796.3_Missense_Mutation_p.S186F			P20138	CD33_HUMAN	CD33 molecule	186	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GCCCCCACCTCCCTGGGCCCC	0.622000													8	38					0	0	0.006214	0	0
PLCB4	5332	broad.mit.edu	37	20	9417787	9417787	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:9417787G>A	ENST00000378501.2	+	26	2731	c.2716G>A	c.(2716-2718)Gaa>Aaa	p.E906K	PLCB4_ENST00000378473.3_Missense_Mutation_p.E918K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E918K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E906K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E906K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.E906K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	906					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CTCTGGTGTGGAAGCCAAGAA	0.478000													10	31					0	0	0.001855	0	0
GPR111	222611	broad.mit.edu	37	6	47649491	47649491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:47649491C>T	ENST00000398742.2	+	5	1041	c.992C>T	c.(991-993)tCt>tTt	p.S331F	GPR111_ENST00000296862.1_Missense_Mutation_p.S399F|GPR111_ENST00000507065.1_Missense_Mutation_p.S331F			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	399					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GGCTGGCACTCTGTGGAGAAC	0.453000													8	61					0	0	0.004482	0	0
PRKD3	23683	broad.mit.edu	37	2	37507065	37507065	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:37507065G>A	ENST00000379066.1	-	8	1758	c.996C>T	c.(994-996)tcC>tcT	p.S332S	PRKD3_ENST00000234179.2_Silent_p.S332S			O94806	KPCD3_HUMAN	protein kinase D3	332					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TTCCCAGACTGGAAGGTTCTG	0.338000													5	20					0	0	0.000602	0	0
FMO1	2326	broad.mit.edu	37	1	171254612	171254612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:171254612C>T	ENST00000354841.4	+	8	1659	c.1528C>T	c.(1528-1530)Ccc>Tcc	p.P510S	FMO1_ENST00000402921.2_Missense_Mutation_p.P447S|FMO1_ENST00000367750.3_Missense_Mutation_p.P510S|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	510					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTCTCCATCTCCCTTTGAAAG	0.423000													4	52					0	0	0.000248	0	0
ZNF676	163223	broad.mit.edu	37	19	22363765	22363765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:22363765G>A	ENST00000397121.2	-	3	1071	c.754C>T	c.(754-756)Ccc>Tcc	p.P252S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CATTTGTAGGGTTTCTCTCCA	0.378000													6	46					0	0	0.001168	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764617	92764617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:92764617C>T	ENST00000318238.4	-	5	1884	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	SAMD9L_ENST00000437805.1_Missense_Mutation_p.R223Q|SAMD9L_ENST00000411955.1_Missense_Mutation_p.R223Q	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	223										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGATGCAAATCGGAAGACTTC	0.418000													22	69					0	0	0.002299	0	0
THSD7B	80731	broad.mit.edu	37	2	137814413	137814413	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:137814413G>A	ENST00000409968.1	+	3	741	c.563G>A	c.(562-564)tGg>tAg	p.W188*	THSD7B_ENST00000413152.2_Nonsense_Mutation_p.W157*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.W188*|THSD7B_ENST00000543459.1_Nonsense_Mutation_p.W47*					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTCTTACCATGGTCCAACTGT	0.488000													19	133					0	0	0.008871	0	0
GSTT2	2953	broad.mit.edu	37	22	24323179	24323179	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:24323179G>A	ENST00000215780.5	+	2	203	c.153G>A	c.(151-153)ctG>ctA	p.L51L	GSTT2_ENST00000402588.3_Silent_p.L51L	NM_000854.3	NP_000845.1	P0CG30	GSTT2_HUMAN	glutathione S-transferase theta 2	51	GST N-terminal.					cytoplasm	glutathione transferase activity			lung(1)	1						TCAACAGCCTGGGGAAACTGC	0.542000													36	90					0	0	0.003610	0	0
MDH2	4191	broad.mit.edu	37	7	75686735	75686735	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:75686735C>T	ENST00000315758.5	+	3	337	c.243C>T	c.(241-243)ctC>ctT	p.L81L	MDH2_ENST00000443006.1_5'UTR|MDH2_ENST00000490105.1_3'UTR|MDH2_ENST00000432020.2_Silent_p.L81L	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	81					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	TAGGCTACCTCGGACCTGAAC	0.512000													11	33					0	0	0.000978	0	0
TFEB	7942	broad.mit.edu	37	6	41655724	41655724	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:41655724G>A	ENST00000394283.1	-	5	1818	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S	TFEB_ENST00000230323.4_Missense_Mutation_p.P198S|TFEB_ENST00000373033.1_Missense_Mutation_p.P198S|TFEB_ENST00000420312.1_Missense_Mutation_p.P113S|TFEB_ENST00000403298.4_Missense_Mutation_p.P198S|TFEB_ENST00000358871.2_Missense_Mutation_p.P212S			P19484	TFEB_HUMAN	transcription factor EB	198					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GTGACCTGGGGGTCGCTGCTG	0.662000			T	ALPHA	renal (childhood epithelioid)								12	63					0	0	0.001368	0	0
GPR20	2843	broad.mit.edu	37	8	142367810	142367810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:142367810C>T	ENST00000377741.3	-	2	304	c.214G>A	c.(214-216)Ggg>Agg	p.G72R		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	72						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			AGCGCCAGCCCGTTGAGCACC	0.647000													10	24					0	0	0.006214	0	0
CTNND2	1501	broad.mit.edu	37	5	11732304	11732304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:11732304C>T	ENST00000304623.8	-	2	307	c.118G>A	c.(118-120)Ggg>Agg	p.G40R	CTNND2_ENST00000359640.2_Missense_Mutation_p.G40R|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	40					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GAGCCATCCCCGTTGGAGGTG	0.512000													16	53					0	0	0.003163	0	0
ECM1	1893	broad.mit.edu	37	1	150483434	150483434	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:150483434C>T	ENST00000369047.4	+	6	593	c.468C>T	c.(466-468)tcC>tcT	p.S156S	ECM1_ENST00000369049.4_Silent_p.S183S|ECM1_ENST00000346569.6_Silent_p.S156S|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	156	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AGGACCGGTCCCAAGGGGGCT	0.602000													16	140					0	0	0.003163	0	0
DPH6	89978	broad.mit.edu	37	15	35703089	35703089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:35703089G>A	ENST00000256538.4	-	6	540	c.514C>T	c.(514-516)Cct>Tct	p.P172S		NM_080650.3	NP_542381.1			diphthamine biosynthesis 6																		TGCTTATCAGGATCTAAACCT	0.383000													14	160					0	0	0.007413	0	0
ANXA10	11199	broad.mit.edu	37	4	169105801	169105801	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:169105801G>A	ENST00000359299.3	+	11	1061	c.875G>A	c.(874-876)cGa>cAa	p.R292Q		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	292							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		TACAAAGAGCGATATGGAAAA	0.353000													22	66					0	0	0.002780	0	0
PRG4	10216	broad.mit.edu	37	1	186278155	186278155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:186278155G>A	ENST00000445192.2	+	7	3349	c.3304G>A	c.(3304-3306)Gga>Aga	p.G1102R	PRG4_ENST00000367485.4_Missense_Mutation_p.G1009R|PRG4_ENST00000367483.4_Missense_Mutation_p.G1061R|PRG4_ENST00000367486.3_Missense_Mutation_p.G1059R|PRG4_ENST00000367484.3_Missense_Mutation_p.G631R	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1102					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGGTGCTGAAGGAGAAACACC	0.463000													5	32					0	0	0.000602	0	0
JPH1	56704	broad.mit.edu	37	8	75227223	75227223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:75227223G>A	ENST00000342232.4	-	2	1052	c.1012C>T	c.(1012-1014)Cgt>Tgt	p.R338C		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	338					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CTTATCCCACGGACCAGAATA	0.473000													9	91					0	0	0.004482	0	0
SLC38A1	81539	broad.mit.edu	37	12	46601349	46601349	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:46601349G>A	ENST00000398637.5	-	7	1138	c.444C>T	c.(442-444)ttC>ttT	p.F148F	SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Silent_p.F148F|SLC38A1_ENST00000549049.1_Silent_p.F148F|SLC38A1_ENST00000546893.1_Silent_p.F148F|SLC38A1_ENST00000552197.1_Silent_p.F148F	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	148					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CAAAGATTACGAACTTCCCTG	0.413000													13	75					0	0	0.004990	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709723	38709723	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:38709723G>A	ENST00000417039.1	-	0	696																											ATCATCAACGGGTACAAACGA	0.522000													4	42					0	0	0.000248	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38610071	38610071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:38610071C>T	ENST00000222345.6	+	9	2926	c.2417C>T	c.(2416-2418)gCc>gTc	p.A806V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	806	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCTGAGAACGCCGCGCACAAG	0.587000													5	50					0	0	0.001168	0	0
PENK	5179	broad.mit.edu	37	8	57354009	57354009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:57354009C>T	ENST00000314922.3	-	2	702	c.626G>A	c.(625-627)cGa>cAa	p.R209Q	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.R209Q	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	209					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GCCCCCATATCGCTTCTGCAG	0.522000													32	68					0	0	0.002836	0	0
PLK2	10769	broad.mit.edu	37	5	57755646	57755646	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:57755646G>A	ENST00000274289.3	-	1	441	c.141C>T	c.(139-141)tcC>tcT	p.S47S		NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	47					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CTTGCGCCTGGGACTGAGGTG	0.677000													4	33					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179594516	179594516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179594516G>A	ENST00000589042.1	-	63	18688	c.18464C>T	c.(18463-18465)tCc>tTc	p.S6155F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S4911F|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S5838F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5838	Ig-like 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S4911F(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAATGAAGGAAATGCCATG	0.443000													9	58					0	0	0.006214	0	0
SSH2	85464	broad.mit.edu	37	17	27958625	27958625	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:27958625G>A	ENST00000269033.3	-	15	3657	c.3506C>T	c.(3505-3507)tCc>tTc	p.S1169F	SSH2_ENST00000540801.1_Missense_Mutation_p.S1196F|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1169					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACTGCCACTGGAGAGAGGGCT	0.507000													9	47					0	0	0.006214	0	0
BAAT	570	broad.mit.edu	37	9	104133271	104133271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:104133271C>T	ENST00000259407.2	-	2	524	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	BAAT_ENST00000395051.3_Missense_Mutation_p.R139Q	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	139					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	AACCTTAATTCGTGTGACACC	0.433000													8	62					0	0	0.006214	0	0
HRASLS5	117245	broad.mit.edu	37	11	63235895	63235895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:63235895G>A	ENST00000540857.1	-	4	520	c.388C>T	c.(388-390)Cga>Tga	p.R130*	HRASLS5_ENST00000301790.4_Nonsense_Mutation_p.R140*|HRASLS5_ENST00000539221.1_Nonsense_Mutation_p.R140*	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	140										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TAGCCAATTCGAAAAATCTCA	0.418000													10	87					0	0	0.000978	0	0
MFSD6L	162387	broad.mit.edu	37	17	8701992	8701992	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:8701992T>A	ENST00000329805.4	-	1	675	c.447A>T	c.(445-447)gaA>gaT	p.E149D		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	149						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						AGCCAGGCATTTCCACCTCTG	0.582000													8	72					0	0	0.004482	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650827	121650827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:121650827G>A	ENST00000393386.2	+	12	2138	c.1727G>A	c.(1726-1728)aGt>aAt	p.S576N	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S576N	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	576					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTATTGACCAGTTTCAAGCTT	0.403000													6	43					0	0	0.001168	0	0
DUOX1	53905	broad.mit.edu	37	15	45431636	45431636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:45431636G>A	ENST00000321429.4	+	13	1635	c.1228G>A	c.(1228-1230)Ggg>Agg	p.G410R	DUOX1_ENST00000561166.1_Missense_Mutation_p.G56R|DUOX1_ENST00000389037.3_Missense_Mutation_p.G410R	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	410	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TTTCTGGCCTGGGCCACTGAA	0.642000													17	92					0	0	0.004990	0	0
GPLD1	2822	broad.mit.edu	37	6	24456865	24456865	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:24456865C>T	ENST00000230036.1	-	13	1119	c.1008_splice	c.e13-1	p.D337_splice		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	337						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GACATGGAATCCTGAAATAAA	0.398000													7	96					0	0	0.001984	0	0
POTEH	23784	broad.mit.edu	37	22	16287402	16287402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:16287402C>T	ENST00000343518.6	-	1	535	c.484G>A	c.(484-486)Gac>Aac	p.D162N		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	162										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						AAAGCGCTGTCGTCGTAGTCT	0.587000													9	126					0	0	0.008291	0	0
SIN3B	23309	broad.mit.edu	37	19	16974544	16974544	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:16974544C>T	ENST00000379803.1	+	11	1430	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	SIN3B_ENST00000595541.1_Silent_p.F30F|SIN3B_ENST00000248054.5_Silent_p.F440F	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	472	Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACTCCACGTTCGTCAGCTCCA	0.612000													7	39					0	0	0.001984	0	0
PLGRKT	55848	broad.mit.edu	37	9	5361160	5361160	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:5361160G>A	ENST00000223864.2	-	5	461	c.240C>T	c.(238-240)ttC>ttT	p.F80F		NM_018465.3	NP_060935.2	Q9HBL7	CI046_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	80						integral to membrane											TCGGGACCAGGAAGGCTGGCT	0.343000													4	44					0	0	0.000248	0	0
TMEM52B	120939	broad.mit.edu	37	12	10339110	10339110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:10339110G>A	ENST00000298530.3	+	3	747	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	TMEM52B_ENST00000536952.1_Missense_Mutation_p.E77K|TMEM52B_ENST00000381923.2_Missense_Mutation_p.E77K	NM_153022.2	NP_694567.1			transmembrane protein 52B																		GCAAAATGGGGAAGATGGGGG	0.547000													8	72					0	0	0.004482	0	0
DSG4	147409	broad.mit.edu	37	18	28972242	28972242	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:28972242G>A	ENST00000359747.4	+	8	973	c.944G>A	c.(943-945)gGg>gAg	p.G315E	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.G315E	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	315	Cadherin 3.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGAAATGATGGGAATTGGTTC	0.348000													8	23					0	0	0.004482	0	0
GPR115	221393	broad.mit.edu	37	6	47682166	47682166	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:47682166G>A	ENST00000283303.2	+	6	1443	c.1185G>A	c.(1183-1185)tcG>tcA	p.S395S	GPR115_ENST00000371220.1_Silent_p.S452S|GPR115_ENST00000327753.3_Silent_p.S395S	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	395	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S395S(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CCTCCAAATCGATGACCGACA	0.473000													4	23					0	0	0.000248	0	0
SI	6476	broad.mit.edu	37	3	164755722	164755722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:164755722G>A	ENST00000264382.3	-	21	2454	c.2392C>T	c.(2392-2394)Ccc>Tcc	p.P798S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	798	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCTTGAATGGGGATGATATAA	0.323000										HNSCC(35;0.089)			4	23					0	0	0.000248	0	0
MORC3	23515	broad.mit.edu	37	21	37717257	37717257	+	Silent	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:37717257T>C	ENST00000400485.1	+	8	1009	c.933T>C	c.(931-933)gaT>gaC	p.D311D	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	311					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GAAATAAAGATCATTATGGGA	0.294000													5	37					0	0	0.001168	0	0
PEX19	5824	broad.mit.edu	37	1	160249921	160249921	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:160249921G>T	ENST00000368072.5	-	6	731	c.710C>A	c.(709-711)cCc>cAc	p.P237H	PEX19_ENST00000440949.3_Missense_Mutation_p.P147H|DCAF8_ENST00000556710.1_Missense_Mutation_p.P90H|PEX19_ENST00000532508.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTGTCTGTGGGGGTCTCTGC	0.502000													6	161					0.00198382	0.00223732	0.001984	1	0
AHRR	57491	broad.mit.edu	37	5	427983	427983	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:427983G>A	ENST00000316418.5	+	9	880	c.836G>A	c.(835-837)gGa>gAa	p.G279E	AHRR_ENST00000512529.1_Missense_Mutation_p.G107E|AHRR_ENST00000505113.1_Missense_Mutation_p.G261E|AHRR_ENST00000506456.1_Missense_Mutation_p.G117E	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCGCCGTCAGGAGCCATGCTC	0.557000													4	24					0	0	0.000248	0	0
HSPG2	3339	broad.mit.edu	37	1	22188579	22188579	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:22188579G>A	ENST00000374695.3	-	38	4849	c.4770C>T	c.(4768-4770)ttC>ttT	p.F1590F		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1590	Laminin EGF-like 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AAAGCTCGCAGAACTCCCCTG	0.602000													13	48					0	0	0.001855	0	0
GCOM1	145781	broad.mit.edu	37	15	57925876	57925876	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:57925876C>T	ENST00000574161.1	+	8	989	c.870C>T	c.(868-870)atC>atT	p.I290I	GCOM1_ENST00000396180.1_Silent_p.I259I|GCOM1_ENST00000587652.1_Silent_p.I290I|GCOM1_ENST00000380568.3_Silent_p.I290I|MYZAP_ENST00000380565.4_Silent_p.I290I|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380561.2_Silent_p.I259I|GCOM1_ENST00000380560.2_Silent_p.I221I|GCOM1_ENST00000380569.2_Silent_p.I290I|GCOM1_ENST00000572390.1_Silent_p.I290I|MYZAP_ENST00000267853.5_Silent_p.I290I	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		290					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CAGCAGAGATCAGCCTAGAGG	0.478000													9	64					0	0	0.006214	0	0
RFC4	5984	broad.mit.edu	37	3	186509532	186509532	+	Silent	SNP	C	C	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:186509532C>G	ENST00000392481.2	-	8	1064	c.783G>C	c.(781-783)gtG>gtC	p.V261V	RFC4_ENST00000433496.1_Silent_p.V261V|RFC4_ENST00000296273.2_Silent_p.V261V	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	261					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TGTCTGTAATCACTTTCTCTG	0.373000													14	47					0	0	0.001855	0	0
PLXDC2	84898	broad.mit.edu	37	10	20466004	20466004	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:20466004G>A	ENST00000377252.3	+	8	1801	c.960G>A	c.(958-960)gtG>gtA	p.V320V	PLXDC2_ENST00000377242.3_Silent_p.V271V|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	320						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TTTCGGCTGTGGAGATGACCC	0.328000													12	98					0	0	0.001855	0	0
TMED2	10959	broad.mit.edu	37	12	124081262	124081262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:124081262C>T	ENST00000262225.3	+	4	698	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	TMED2_ENST00000509052.2_Missense_Mutation_p.R113W	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2	198					protein transport|vesicle-mediated transport	COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane	protein binding			kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		TTTTGAAGTCCGGAGAGTTGT	0.398000													9	47					0	0	0.006214	0	0
ABCB1	5243	broad.mit.edu	37	7	87179525	87179525	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:87179525G>A	ENST00000265724.3	-	13	1729	c.1312C>T	c.(1312-1314)Cag>Tag	p.Q438*	ABCB1_ENST00000543898.1_Nonsense_Mutation_p.Q374*	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	438	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TGCATCAGCTGGACTGTTGTG	0.562000													8	53					0	0	0.003080	0	0
GART	2618	broad.mit.edu	37	21	34889714	34889714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:34889714G>A	ENST00000381831.3	-	15	2167	c.1904C>T	c.(1903-1905)tCc>tTc	p.S635F	GART_ENST00000381815.4_Missense_Mutation_p.S635F|GART_ENST00000543717.1_Missense_Mutation_p.S187F|GART_ENST00000381839.3_Missense_Mutation_p.S635F	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	635	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	GTACTGGAGGGAAGATTTTGC	0.458000													9	71					0	0	0.006214	0	0
NBEAL1	65065	broad.mit.edu	37	2	203980710	203980710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:203980710C>T	ENST00000449802.1	+	17	2755	c.2422C>T	c.(2422-2424)Cca>Tca	p.P808S		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	808							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATTTTCAGGTCCAAATTGTTT	0.373000													21	270					0	0	0.002780	0	0
C10orf137	26098	broad.mit.edu	37	10	127426937	127426937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:127426937C>T	ENST00000337623.3	+	14	1907	c.1802C>T	c.(1801-1803)cCg>cTg	p.P601L	C10orf137_ENST00000356792.4_Missense_Mutation_p.P635L	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACTCCAATCCCGTTAAAATAT	0.433000													8	56					0	0	0.004482	0	0
OR4C3	256144	broad.mit.edu	37	11	48347284	48347284	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:48347284C>T	ENST00000319856.4	+	1	813	c.792C>T	c.(790-792)acC>acT	p.T264T		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CCCTCTCCACCTGTGGAGCCC	0.458000													7	67					0	0	0.001984	0	0
PNPLA5	150379	broad.mit.edu	37	22	44276713	44276713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:44276713G>A	ENST00000216177.4	-	9	1384	c.1252C>T	c.(1252-1254)Cct>Tct	p.P418S	PNPLA5_ENST00000381198.2_Missense_Mutation_p.P304S|PNPLA5_ENST00000597664.1_Missense_Mutation_p.P418S|PNPLA5_ENST00000593866.1_Missense_Mutation_p.P304S	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	418					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TCTCTATGAGGAGCTATCTGG	0.657000													6	22					0	0	0.001168	0	0
CCAR1	55749	broad.mit.edu	37	10	70531017	70531017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:70531017C>T	ENST00000265872.6	+	18	2472	c.2353C>T	c.(2353-2355)Cgt>Tgt	p.R785C	CCAR1_ENST00000535016.1_Missense_Mutation_p.R770C|CCAR1_ENST00000543719.1_Missense_Mutation_p.R770C	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	785	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTTGGTGTCCGTATATACAA	0.308000													4	45					0	0	0.000248	0	0
CORIN	10699	broad.mit.edu	37	4	47605486	47605486	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:47605486G>A	ENST00000273857.4	-	20	2739	c.2740C>T	c.(2740-2742)Ccc>Tcc	p.P914S	CORIN_ENST00000505909.1_Missense_Mutation_p.P877S|CORIN_ENST00000508498.1_Missense_Mutation_p.P775S|CORIN_ENST00000502252.1_Missense_Mutation_p.P847S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	914	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCCGGGTTGGGCAAGCAGACA	0.537000													4	46					0	0	0.000248	0	0
HIP1	3092	broad.mit.edu	37	7	75192332	75192332	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:75192332G>A	ENST00000336926.6	-	11	953	c.927C>T	c.(925-927)agC>agT	p.S309S	HIP1_ENST00000434438.2_Silent_p.S309S	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	309					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCACCACAGGGCTGATATGTT	0.592000			T	PDGFRB	CMML								4	45					0	0	0.000602	0	0
OR2G2	81470	broad.mit.edu	37	1	247752051	247752051	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:247752051C>T	ENST00000320065.1	+	1	390	c.390C>T	c.(388-390)tgC>tgT	p.C130C	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGCTGTCTGCCGTCCTCTCC	0.542000													19	124					0	0	0.002299	0	0
DNAH7	56171	broad.mit.edu	37	2	196620936	196620936	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:196620936C>T	ENST00000312428.6	-	62	11607	c.11507G>A	c.(11506-11508)tGg>tAg	p.W3836*	DNAH7_ENST00000409063.1_Nonsense_Mutation_p.W319*	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3836					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTACCCATCCACATTTCTGG	0.398000													5	37					0	0	0.000602	0	0
ZNF658	26149	broad.mit.edu	37	9	40774080	40774080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:40774080G>A	ENST00000602553.1	-	5	1489	c.1195C>T	c.(1195-1197)Ctc>Ttc	p.L399F	ZNF658_ENST00000441795.1_Missense_Mutation_p.L397F|ZNF658_ENST00000377626.3_Missense_Mutation_p.L399F			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGCTGAATGAGGTGTGCTTTC	0.403000													17	174					0	0	0.006122	0	0
WDR3	10885	broad.mit.edu	37	1	118499763	118499763	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:118499763C>T	ENST00000349139.4	+	25	2573	c.2526C>T	c.(2524-2526)ttC>ttT	p.F842F	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	842						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTAACGAATTCATTCAGCTGG	0.378000													22	88					0	0	0.002299	0	0
SCGB1D1	10648	broad.mit.edu	37	11	61959585	61959585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:61959585G>A	ENST00000306238.3	+	2	182	c.113G>A	c.(112-114)gGa>gAa	p.G38E		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	38						extracellular space	binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						TTATTAGCTGGAAAACCTGTG	0.418000													10	34					0	0	0.008291	0	0
DNER	92737	broad.mit.edu	37	2	230411772	230411772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:230411772G>A	ENST00000341772.4	-	5	1018	c.884C>T	c.(883-885)gCt>gTt	p.A295V		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	295					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TAAGCGCAAAGCCACAATAGA	0.443000													18	54					0	0	0.004990	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17363164	17363164	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:17363164G>A	ENST00000377602.4	-	8	984	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	304					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AGATCTTTCAGGTACTTGGGA	0.443000													17	104					0	0	0.007413	0	0
SLC6A5	9152	broad.mit.edu	37	11	20652291	20652291	+	Silent	SNP	C	C	T	rs143680068	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:20652291C>T	ENST00000525748.1	+	10	1827	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	518					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TTGCCGGCTTCGTCATCTTCT	0.493000													17	74					0	0	0.001523	0	0
RBBP6	5930	broad.mit.edu	37	16	24582793	24582793	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:24582793C>T	ENST00000319715.4	+	18	4838	c.4406C>T	c.(4405-4407)cCc>cTc	p.P1469L	RBBP6_ENST00000348022.2_Missense_Mutation_p.P1435L|RBBP6_ENST00000381039.3_Missense_Mutation_p.P629L	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1469	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GACTTCACTCCCAATAGAGAC	0.368000													5	33					0	0	0.001984	0	0
TIAM2	26230	broad.mit.edu	37	6	155450721	155450721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:155450721G>A	ENST00000461783.3	+	6	1637	c.364G>A	c.(364-366)Gag>Aag	p.E122K	TIAM2_ENST00000360366.4_Missense_Mutation_p.E122K|TIAM2_ENST00000456144.1_Missense_Mutation_p.E122K|TIAM2_ENST00000318981.5_Missense_Mutation_p.E122K|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.E122K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	122					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGTTGGCCACGAGCTGGCAGA	0.557000													7	20					0	0	0.003080	0	0
OR4E2	26686	broad.mit.edu	37	14	22133973	22133973	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:22133973G>A	ENST00000408935.1	+	1	677	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTTTCTCTTCGAAAACACTCA	0.502000													15	40					0	0	0.004007	0	0
KNOP1	400506	broad.mit.edu	37	16	19725860	19725860	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:19725860G>A	ENST00000219837.7	-	2	576	c.498C>T	c.(496-498)gtC>gtT	p.V166V	AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2			lysine-rich nucleolar protein 1																		AAGGGTCCTGGACCGAGAAGG	0.567000													5	46					0	0	0.001984	0	0
LAMB4	22798	broad.mit.edu	37	7	107746957	107746957	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:107746957G>A	ENST00000388781.3	-	7	735	c.652C>T	c.(652-654)Caa>Taa	p.Q218*	LAMB4_ENST00000414450.2_Nonsense_Mutation_p.Q218*|LAMB4_ENST00000388780.3_Nonsense_Mutation_p.Q218*|LAMB4_ENST00000205386.4_Nonsense_Mutation_p.Q218*	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	218	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTCATACCTTGGATGTAGGGG	0.279000													8	17					0	0	0.008291	0	0
DENND6B	414918	broad.mit.edu	37	22	50754507	50754507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:50754507G>A	ENST00000413817.2	-	8	720	c.649C>T	c.(649-651)Cca>Tca	p.P217S		NM_001001794.3	NP_001001794.3			DENN/MADD domain containing 6B																		ACCCTGGATGGGATGCGCACC	0.632000													15	82					0	0	0.004007	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812806	31812806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:31812806C>T	ENST00000334067.3	+	1	210	c.161C>T	c.(160-162)aCc>aTc	p.T54I		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	54						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TGTCAGGAGACCTACTGTGAG	0.498000													8	81					0	0	0.003080	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806032	97806032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:97806032G>A	ENST00000358642.2	+	1	16	c.16G>A	c.(16-18)Gga>Aga	p.G6R		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TATATCAGAGGGAAATAAGAC	0.368000													8	63					0	0	0.004482	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508709	37508709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:37508709C>T	ENST00000374660.1	+	40	4357	c.4258C>T	c.(4258-4260)Ctt>Ttt	p.L1420F	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.L1301F|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.L1301F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1357						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TATTCATTTTCTTGAGAGGAA	0.284000													4	11					0	0	0.000248	0	0
GRK1	6011	broad.mit.edu	37	13	114324052	114324052	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:114324052C>T	ENST00000335678.6	+	2	982	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	250	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GCAGGTTCATCGTGTCTCTGG	0.512000													11	145					0	0	0.008291	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393604	145393604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:145393604C>T	ENST00000511217.1	+	4	1091	c.1039C>T	c.(1039-1041)Cct>Tct	p.P347S	SH3RF2_ENST00000359120.4_Missense_Mutation_p.P347S			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	347							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCAGACGTTCCTTCCAGCTG	0.527000													8	56					0	0	0.004482	0	0
SYN3	8224	broad.mit.edu	37	22	32929853	32929853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:32929853C>T	ENST00000358763.2	-	10	1263	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	SYN3_ENST00000332840.5_Missense_Mutation_p.E341K	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	341	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCAAACATTTCCGAGCAGCTG	0.577000													4	36					0	0	0.000602	0	0
HM13	81502	broad.mit.edu	37	20	30126064	30126064	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:30126064G>A	ENST00000335574.5	+	3	489	c.365_splice	c.e3+1	p.S122_splice	HM13_ENST00000340852.5_Splice_Site_p.S122_splice|HM13_ENST00000398174.3_Splice_Site_p.S122_splice|HM13_ENST00000376127.3_Splice_Site_p.S122_splice|HM13_ENST00000492709.1_3'UTR	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	122					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CACACCATCAGGTCAGAAGGC	0.488000													10	49					0	0	0.008291	0	0
KRIT1	889	broad.mit.edu	37	7	91864731	91864731	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:91864731G>A	ENST00000394507.1	-	9	1498	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	KRIT1_ENST00000340022.2_Nonsense_Mutation_p.Q239*|KRIT1_ENST00000412043.2_Nonsense_Mutation_p.Q239*|KRIT1_ENST00000394505.2_Nonsense_Mutation_p.Q239*|KRIT1_ENST00000394503.2_Nonsense_Mutation_p.Q239*	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	239					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTGTATACTGAAGATCTGAT	0.318000													12	56					0	0	0.000978	0	0
OR2L8	391190	broad.mit.edu	37	1	248112291	248112291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248112291G>A	ENST00000357191.3	+	1	132	c.132G>A	c.(130-132)atG>atA	p.M44I	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACCTGTCCATGATTCTTCTCA	0.413000													50	188					0	0	0.003610	0	0
TAGAP	117289	broad.mit.edu	37	6	159463166	159463166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:159463166C>T	ENST00000367066.3	-	5	590	c.259G>A	c.(259-261)Gat>Aat	p.D87N	RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000326965.6_Intron|TAGAP_ENST00000338313.5_Missense_Mutation_p.D87N|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	87					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AAGGGCTGATCAAATAGCGAT	0.493000													12	168					0	0	0.000978	0	0
TECPR2	9895	broad.mit.edu	37	14	102916011	102916011	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:102916011C>T	ENST00000359520.7	+	14	3347	c.3121C>T	c.(3121-3123)Cag>Tag	p.Q1041*	TECPR2_ENST00000558678.1_Nonsense_Mutation_p.Q1041*	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1041							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CAGCTTATTTCAGACGATAAT	0.537000													22	110					0	0	0.004656	0	0
TGM6	343641	broad.mit.edu	37	20	2397950	2397950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:2397950G>A	ENST00000202625.2	+	10	1470	c.1409G>A	c.(1408-1410)aGa>aAa	p.R470K	TGM6_ENST00000381423.1_Missense_Mutation_p.R470K	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	470					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TCTGGAAGGAGAATCTGGATC	0.627000													5	18					0	0	0.001168	0	0
CYP4F2	8529	broad.mit.edu	37	19	15990645	15990645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:15990645G>A	ENST00000221700.5	-	10	1273	c.1178C>T	c.(1177-1179)cCc>cTc	p.P393L	CYP4F2_ENST00000592328.1_Missense_Mutation_p.P393L	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	393					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGGGACTGGGGGATGCAGCCG	0.617000													4	77					0	0	0.000248	0	0
TRPM6	140803	broad.mit.edu	37	9	77376718	77376718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:77376718G>A	ENST00000451710.3	-	27	4916	c.4679C>T	c.(4678-4680)tCa>tTa	p.S1560L	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.S1560L|TRPM6_ENST00000361255.3_Missense_Mutation_p.S1555L|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.S1560L|TRPM6_ENST00000449912.2_Missense_Mutation_p.S1555L			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1560					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGAAGAGCCTGAAAGATCTGC	0.418000													4	52					0	0	0.000248	0	0
C1orf94	84970	broad.mit.edu	37	1	34677907	34677907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:34677907C>T	ENST00000488417.1	+	6	1741	c.1621C>T	c.(1621-1623)Ccc>Tcc	p.P541S	C1orf94_ENST00000373374.3_Missense_Mutation_p.P351S	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	351							protein binding	p.P351S(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GCCCAATTATCCCTACCCTCA	0.557000													9	34					0	0	0.008291	0	0
OR4K1	79544	broad.mit.edu	37	14	20404557	20404557	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:20404557C>T	ENST00000285600.4	+	1	791	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTGCCCACATCACAGTGGTCA	0.418000													7	77					0	0	0.001984	0	0
MYO7A	4647	broad.mit.edu	37	11	76924975	76924975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:76924975C>T	ENST00000409709.3	+	48	6781	c.6509C>T	c.(6508-6510)aCc>aTc	p.T2170I	MYO7A_ENST00000409619.2_Missense_Mutation_p.T2121I|MYO7A_ENST00000458637.2_Missense_Mutation_p.T2130I|MYO7A_ENST00000605744.1_3'UTR	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2170	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTCCACATCACCATTGGGAAC	0.597000													23	63					0	0	0.006320	0	0
GCSAML	148823	broad.mit.edu	37	1	247737610	247737610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:247737610C>T	ENST00000366491.2	+	7	771	c.274C>T	c.(274-276)Ctt>Ttt	p.L92F	GCSAML_ENST00000463359.1_Missense_Mutation_p.L80F|GCSAML_ENST00000527084.1_Missense_Mutation_p.L80F|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000536561.1_Missense_Mutation_p.L92F|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000527541.1_Missense_Mutation_p.L80F|GCSAML_ENST00000366489.1_Missense_Mutation_p.L92F|GCSAML_ENST00000366488.4_Missense_Mutation_p.L112F					germinal center-associated, signaling and motility-like																		AGAATATGCCCTTCTTAGGAC	0.443000													10	26					0	0	0.008291	0	0
ZNF600	162966	broad.mit.edu	37	19	53268876	53268876	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:53268876G>A	ENST00000338230.3	-	3	2400	c.2133C>T	c.(2131-2133)caC>caT	p.H711H		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	711					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		CTGCCTGATGGTGAATAAGTG	0.398000													7	61					0	0	0.003080	0	0
SAMHD1	25939	broad.mit.edu	37	20	35547860	35547860	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:35547860G>A	ENST00000262878.4	-	7	958	c.759C>T	c.(757-759)gtC>gtT	p.V253V	SAMHD1_ENST00000373694.5_Silent_p.V38V	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	253	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ATTGTTCCATGACAGGCTTAA	0.353000													6	37					0	0	0.001168	0	0
TJP3	27134	broad.mit.edu	37	19	3736275	3736275	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:3736275C>G	ENST00000541714.2	+	11	1702	c.1240C>G	c.(1240-1242)Ccg>Gcg	p.P414A	TJP3_ENST00000539908.2_Missense_Mutation_p.P378A|TJP3_ENST00000589378.1_Missense_Mutation_p.P423A|TJP3_ENST00000587686.1_Missense_Mutation_p.P433A|TJP3_ENST00000382008.3_Missense_Mutation_p.P428A|TJP3_ENST00000262968.9_Missense_Mutation_p.P447A	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	428	PDZ 3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGGGCAGCCCGGCCGACGG	0.687000													4	26					0	0	0.000248	0	0
EPHA2	1969	broad.mit.edu	37	1	16459981	16459981	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:16459981C>T	ENST00000358432.5	-	10	2013	c.1859G>A	c.(1858-1860)gGa>gAa	p.G620E		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	620	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTCACCTGCTCCGATCACCTT	0.622000													4	32					0	0	0.000248	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548602	20548602	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:20548602G>A	ENST00000329697.6	-	14	1880	c.1712C>T	c.(1711-1713)tCc>tTc	p.S571F	ACSM2B_ENST00000565232.1_Missense_Mutation_p.S571F|ACSM2B_ENST00000565322.1_Missense_Mutation_p.S492F|ACSM2B_ENST00000567001.1_Missense_Mutation_p.S571F	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	571					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GGCTTTTCCGGACATCTTCCA	0.458000													18	178					0	0	0.007413	0	0
DMXL2	23312	broad.mit.edu	37	15	51830440	51830440	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:51830440C>A	ENST00000251076.5	-	10	1602	c.1315G>T	c.(1315-1317)Gaa>Taa	p.E439*	DMXL2_ENST00000449909.3_Nonsense_Mutation_p.E439*|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.E439*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	439						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAACCCCGTTCTCTATCCTCC	0.353000													6	65					8.12818e-05	9.18104e-05	0.001984	1	0
UBASH3B	84959	broad.mit.edu	37	11	122647802	122647802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:122647802C>T	ENST00000284273.5	+	3	661	c.286C>T	c.(286-288)Ccc>Tcc	p.P96S		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	96						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CTACCTCCGTCCCACCGGCCC	0.557000													7	27					0	0	0.003080	0	0
FER1L6	654463	broad.mit.edu	37	8	124992757	124992757	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:124992757G>A	ENST00000522917.1	+	11	1322	c.1116G>A	c.(1114-1116)agG>agA	p.R372R	FER1L6_ENST00000399018.1_Silent_p.R372R	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	372						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCTCGCCCAGGAACCACAGTC	0.473000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	74					0	0	0.005524	0	0
USP53	54532	broad.mit.edu	37	4	120192649	120192649	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:120192649A>T	ENST00000450251.1	+	12	2178	c.1634A>T	c.(1633-1635)aAa>aTa	p.K545I	USP53_ENST00000274030.6_Missense_Mutation_p.K545I			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	545					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.K544T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						CCAGGAGAGAAAATAACTGGC	0.418000													6	56					0	0	0.001984	0	0
TCP10L	140290	broad.mit.edu	37	21	33954539	33954539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:33954539G>A	ENST00000300258.3	-	3	444	c.331C>T	c.(331-333)Cca>Tca	p.P111S	TCP10L_ENST00000491828.1_5'UTR	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						CCCGCGTGTGGGGACGCTGCA	0.498000													9	104					0	0	0.000978	0	0
CDH6	1004	broad.mit.edu	37	5	31299680	31299680	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:31299680C>T	ENST00000265071.2	+	5	1018	c.753C>T	c.(751-753)acC>acT	p.T251T	CDH6_ENST00000514738.1_Silent_p.T196T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	251	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.T251T(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TATCTGGGACCACCACCGTGA	0.478000													6	71					0	0	0.001984	0	0
KCNB2	9312	broad.mit.edu	37	8	73848625	73848625	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:73848625G>A	ENST00000523207.1	+	3	1623	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	345					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGGCCATGGGGATAATGATAT	0.473000													20	92					0	0	0.002299	0	0
EPRS	2058	broad.mit.edu	37	1	220170331	220170331	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:220170331G>A	ENST00000366923.3	-	18	2804	c.2535C>T	c.(2533-2535)tcC>tcT	p.S845S		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	845	3 X 57 AA approximate repeats.|WHEP-TRS 2.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TGACCTTAGGGGATTTTTCAG	0.388000													16	136					0	0	0.004990	0	0
RP1	6101	broad.mit.edu	37	8	55539308	55539308	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:55539308G>A	ENST00000220676.1	+	4	3014	c.2866G>A	c.(2866-2868)Gat>Aat	p.D956N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	956					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTCAGGGAATGATCCCCATAC	0.313000													6	42					0	0	0.001168	0	0
RPE65	6121	broad.mit.edu	37	1	68910347	68910347	+	Missense_Mutation	SNP	G	G	A	rs121918844		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:68910347G>A	ENST00000262340.5	-	5	415	c.362C>T	c.(361-363)tCt>tTt	p.S121F		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	121					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TCGAAAGTAAGAAAAAAACCT	0.368000													5	31					0	0	0.001168	0	0
PEG3	5178	broad.mit.edu	37	19	57326512	57326512	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:57326512C>T	ENST00000326441.9	-	10	3661	c.3298G>A	c.(3298-3300)Gat>Aat	p.D1100N	ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D974N|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D976N|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D1100N|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1100					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D1100Y(2)|p.K1099_D1100>NY(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCAGGGTCATCCTTCTGAGGG	0.512000													17	64					0	0	0.006122	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963455	73963455	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:73963455G>A	ENST00000373468.1	-	3	1588	c.937C>T	c.(937-939)Cga>Tga	p.R313*	KIAA2022_ENST00000055682.5_Nonsense_Mutation_p.R313*			Q5QGS0	K2022_HUMAN	KIAA2022	313					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GATTCATATCGAATTTTCAGG	0.418000													14	20					0	0	0.006122	0	0
SALL1	6299	broad.mit.edu	37	16	51171260	51171260	+	Silent	SNP	C	C	T	rs145953478		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:51171260C>T	ENST00000440970.1	-	3	3878	c.3447G>A	c.(3445-3447)gcG>gcA	p.A1149A	SALL1_ENST00000251020.4_Silent_p.A1246A|SALL1_ENST00000541611.1_Silent_p.A69A|SALL1_ENST00000566102.1_3'UTR	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1246					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGCCTTCATCGCCAGCCCGT	0.562000													6	32					0	0	0.001168	0	0
FNBP4	23360	broad.mit.edu	37	11	47746311	47746311	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:47746311G>A	ENST00000263773.5	-	13	2040	c.2028C>T	c.(2026-2028)tcC>tcT	p.S676S		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	676										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GACCAGAAAAGGATTCTTTAC	0.408000													7	34					0	0	0.004482	0	0
KRT17	3872	broad.mit.edu	37	17	39780691	39780691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:39780691G>A	ENST00000311208.8	-	1	138	c.71C>T	c.(70-72)tCg>tTg	p.S24L	JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	24	Head.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGTGCGGGACGAGCCGCCCCC	0.721000													7	9					0	0	0.003080	0	0
ALS2CL	259173	broad.mit.edu	37	3	46713399	46713399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:46713399G>A	ENST00000318962.4	-	24	2742	c.2659C>T	c.(2659-2661)Ctc>Ttc	p.L887F	ALS2CL_ENST00000415953.1_Missense_Mutation_p.L887F|ALS2CL_ENST00000383742.3_Missense_Mutation_p.L234F	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	887	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		ACGTAGATGAGAAGTGGCAGC	0.632000													4	26					0	0	0.000248	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432421	104432421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:104432421G>A	ENST00000361820.3	-	3	2873	c.2273C>T	c.(2272-2274)tCc>tTc	p.S758F		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	758					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CGTGTATGTGGAAAGGCAAAA	0.428000													6	51					0	0	0.001168	0	0
ATP5G3	518	broad.mit.edu	37	2	176043862	176043862	+	Silent	SNP	A	A	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:176043862A>C	ENST00000284727.4	-	4	3261	c.237T>G	c.(235-237)ggT>ggG	p.G79G	ATP5G3_ENST00000409194.1_Silent_p.G79G|ATP5G3_ENST00000392541.3_Silent_p.G79G	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	79					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			CTGTTGCAGCACCTGCACCAA	0.463000													5	43					0	0	0.000602	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147239	26147239	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:26147239C>T	ENST00000331351.5	+	2	1433	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	347					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCCAGTATTTCCCCCTCTCCC	0.537000													11	92					0	0	0.008291	0	0
CP	1356	broad.mit.edu	37	3	148925149	148925149	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:148925149C>T	ENST00000264613.6	-	5	1299		c.e5+1			NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)						cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AGATGTCCTACCTTTCAGATG	0.403000													6	62					0	0	0.001984	0	0
VAV1	7409	broad.mit.edu	37	19	6828176	6828176	+	Silent	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:6828176T>C	ENST00000304076.2	+	10	1111	c.1017T>C	c.(1015-1017)ctT>ctC	p.L339L	VAV1_ENST00000602142.1_Silent_p.L339L|VAV1_ENST00000599806.1_Silent_p.L284L|VAV1_ENST00000596764.1_Silent_p.L307L|VAV1_ENST00000539284.1_Silent_p.L242L	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	339	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	p.L339L(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						ATCACCTCCTTCTCCAGGTGC	0.567000													4	31					0	0	0.000248	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123308024	123308024	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:123308024G>A	ENST00000349780.4	-	5	530	c.351C>T	c.(349-351)ctC>ctT	p.L117L	CDK5RAP2_ENST00000359309.3_Silent_p.L117L|CDK5RAP2_ENST00000360190.4_Silent_p.L117L|CDK5RAP2_ENST00000360822.3_Silent_p.L117L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	117					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTCTCTCCTGGAGTTCCCGCT	0.443000													18	86					0	0	0.004990	0	0
DROSHA	29102	broad.mit.edu	37	5	31401632	31401632	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:31401632G>A	ENST00000511367.2	-	35	4276	c.4032C>T	c.(4030-4032)atC>atT	p.I1344I	DROSHA_ENST00000513349.1_Silent_p.I1307I|DROSHA_ENST00000442743.1_Silent_p.I1307I|DROSHA_ENST00000344624.3_Silent_p.I1344I	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1344	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						ACTTCCGTTCGATGAACCGCT	0.358000													9	56					0	0	0.004482	0	0
SCFD1	23256	broad.mit.edu	37	14	31191711	31191711	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:31191711T>G	ENST00000458591.2	+	23	2009	c.1782T>G	c.(1780-1782)ttT>ttG	p.F594L	SCFD1_ENST00000541123.1_Missense_Mutation_p.F409L|SCFD1_ENST00000421551.3_Missense_Mutation_p.F535L|SCFD1_ENST00000396629.2_Missense_Mutation_p.F502L|SCFD1_ENST00000544052.2_Missense_Mutation_p.F527L	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	594					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CCATTGTTTTTGTGGTGGGAG	0.303000													4	66					0	0	0.000248	0	0
CAMK2D	817	broad.mit.edu	37	4	114381320	114381320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:114381320C>T	ENST00000454265.2	-	18	2120	c.1262G>A	c.(1261-1263)cGa>cAa	p.R421Q	CAMK2D_ENST00000342666.5_Missense_Mutation_p.R396Q|CAMK2D_ENST00000296402.5_Missense_Mutation_p.R396Q|CAMK2D_ENST00000394526.2_Missense_Mutation_p.R407Q|CAMK2D_ENST00000394524.3_Missense_Mutation_p.R396Q|CAMK2D_ENST00000515496.1_Missense_Mutation_p.R407Q|CAMK2D_ENST00000394522.3_Missense_Mutation_p.R410Q|CAMK2D_ENST00000418639.2_Missense_Mutation_p.R410Q|CAMK2D_ENST00000505990.1_Missense_Mutation_p.R430Q|CAMK2D_ENST00000514328.1_Missense_Mutation_p.R395Q|CAMK2D_ENST00000429180.1_Missense_Mutation_p.R416Q|CAMK2D_ENST00000511664.1_Missense_Mutation_p.R430Q|CAMK2D_ENST00000508738.1_Missense_Mutation_p.R407Q|CAMK2D_ENST00000379773.2_Missense_Mutation_p.R396Q			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	396					interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		AAAGTAGAATCGGTGAAAATC	0.328000													27	73					0	0	0.002096	0	0
TAF3	83860	broad.mit.edu	37	10	8007232	8007232	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:8007232C>T	ENST00000344293.5	+	3	1965	c.1759C>T	c.(1759-1761)Ccc>Tcc	p.P587S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	587	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGAGGCAGATCCCTACAAGTT	0.368000													8	77					0	0	0.003080	0	0
TREML4	285852	broad.mit.edu	37	6	41204226	41204226	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:41204226A>C	ENST00000341495.2	+	5	613	c.509A>C	c.(508-510)aAa>aCa	p.K170T	TREML4_ENST00000448827.2_Missense_Mutation_p.K170T	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	170						extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCCTGCAGGAAATCAAGAGCC	0.602000													4	34					0	0	0.000602	0	0
CLCA4	22802	broad.mit.edu	37	1	87045120	87045120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:87045120G>A	ENST00000370563.3	+	13	2248	c.2206G>A	c.(2206-2208)Gga>Aga	p.G736R	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	736						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AACAGCATCCGGAGGTGCATT	0.478000													14	56					0	0	0.003163	0	0
LRRTM3	347731	broad.mit.edu	37	10	68688165	68688165	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:68688165G>A	ENST00000361320.4	+	2	2069	c.1491G>A	c.(1489-1491)ggG>ggA	p.G497G	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	497						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGCTGAATGGGACGGGACCCT	0.463000													6	43					0	0	0.004482	0	0
PRPF4	9128	broad.mit.edu	37	9	116038899	116038899	+	Silent	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:116038899T>C	ENST00000374199.4	+	2	500	c.99T>C	c.(97-99)agT>agC	p.S33S	PRPF4_ENST00000374198.4_Silent_p.S34S			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	34						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						ATTATGGAAGTTTGGAAGAGA	0.438000													5	71					0	0	0.000602	0	0
RADIL	55698	broad.mit.edu	37	7	4839071	4839071	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:4839071G>A	ENST00000399583.3	-	15	3353	c.3166C>T	c.(3166-3168)Ctg>Ttg	p.L1056L	RADIL_ENST00000538469.1_Silent_p.L816L|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	1056	PDZ.				cell adhesion|multicellular organismal development|signal transduction		protein binding	p.L1056M(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TTCGCGACCAGGAACCGCATC	0.652000													4	53					0	0	0.000248	0	0
CDH7	1005	broad.mit.edu	37	18	63477217	63477217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:63477217C>T	ENST00000536984.2	+	3	1182	c.488C>T	c.(487-489)cCc>cTc	p.P163L	CDH7_ENST00000323011.3_Missense_Mutation_p.P163L|CDH7_ENST00000397968.2_Missense_Mutation_p.P163L			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	163	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GCAGGAGTTCCCGAAATGTCT	0.428000													9	109					0	0	0.008291	0	0
DOPEY1	23033	broad.mit.edu	37	6	83847269	83847269	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:83847269T>A	ENST00000349129.2	+	21	3768	c.3508T>A	c.(3508-3510)Tca>Aca	p.S1170T	DOPEY1_ENST00000369739.3_Missense_Mutation_p.S1161T|DOPEY1_ENST00000237163.5_Missense_Mutation_p.S1151T	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1170					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGAATCTGCATCAGTTACATC	0.398000													9	28					0	0	0.001368	0	0
MECOM	2122	broad.mit.edu	37	3	168833626	168833626	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:168833626C>T	ENST00000464456.1	-	7	2670	c.1470G>A	c.(1468-1470)ctG>ctA	p.L490L	MECOM_ENST00000494292.1_Silent_p.L678L|MECOM_ENST00000264674.3_Silent_p.L555L|MECOM_ENST00000472280.1_Silent_p.L491L|MECOM_ENST00000468789.1_Silent_p.L490L|MECOM_ENST00000460814.1_Silent_p.L490L|MECOM_ENST00000392736.3_Silent_p.L490L|MECOM_ENST00000433243.2_Silent_p.L491L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GCAGCCCCACCAGTCCTGTTG	0.438000													9	81					0	0	0.004482	0	0
DISC1	27185	broad.mit.edu	37	1	231906698	231906698	+	Missense_Mutation	SNP	C	C	T	rs150294573	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:231906698C>T	ENST00000439617.2	+	6	1569	c.1516C>T	c.(1516-1518)Cca>Tca	p.P506S	DISC1_ENST00000366636.4_Missense_Mutation_p.P506S|DISC1_ENST00000602281.1_Missense_Mutation_p.P506S|DISC1_ENST00000539444.1_Missense_Mutation_p.P506S|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000366633.3_Missense_Mutation_p.P506S|DISC1_ENST00000535983.1_Missense_Mutation_p.P506S|DISC1_ENST00000537876.1_Missense_Mutation_p.P506S|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602873.1_Missense_Mutation_p.P156S	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	506	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CGACCTGACCCCACTGGTGGG	0.597000													8	25					0	0	0.003080	0	0
ITGA4	3676	broad.mit.edu	37	2	182399546	182399546	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:182399546C>T	ENST00000397033.2	+	27	3317	c.2887C>T	c.(2887-2889)Cta>Tta	p.L963L		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	963					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CACGTAGGTTCTACTGGAAGG	0.338000													6	29					0	0	0.001984	0	0
SLC6A18	348932	broad.mit.edu	37	5	1235756	1235756	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:1235756G>A	ENST00000324642.3	+	4	723	c.600G>A	c.(598-600)agG>agA	p.R200R	SLC6A18_ENST00000296821.4_Silent_p.R200R	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	200					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTGTCATCAGGGGCATTGAGA	0.577000													9	93					0	0	0.006214	0	0
RELT	84957	broad.mit.edu	37	11	73101835	73101835	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:73101835C>T	ENST00000064780.2	+	4	417	c.156C>T	c.(154-156)ccC>ccT	p.P52P	RELT_ENST00000393580.2_Silent_p.P52P	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	52						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GGCCCTGCCCCCCAGGCACCT	0.667000													7	53					0	0	0.001984	0	0
TGM1	7051	broad.mit.edu	37	14	24723876	24723876	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:24723876G>A	ENST00000206765.6	-	13	2205	c.2082C>T	c.(2080-2082)tcC>tcT	p.S694S	TGM1_ENST00000544573.1_Silent_p.S252S	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	694					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TCACCGTGAGGGAGAGGTCTG	0.627000													14	54					0	0	0.004007	0	0
CFH	3075	broad.mit.edu	37	1	196694341	196694341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:196694341C>T	ENST00000367429.4	+	12	2027	c.1787C>T	c.(1786-1788)tCc>tTc	p.S596F		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	596	Sushi 10.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTGAAATTCTCCTGCAAACCA	0.393000													19	39					0	0	0.001523	0	0
MYH1	4619	broad.mit.edu	37	17	10395847	10395847	+	Silent	SNP	C	C	T	rs138386754		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10395847C>T	ENST00000226207.5	-	40	5800	c.5706G>A	c.(5704-5706)agG>agA	p.R1902R	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1902						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R1902R(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CGTGCTGGATCCTGCGGAATT	0.488000													9	55					0	0	0.006214	0	0
BLM	641	broad.mit.edu	37	15	91308554	91308554	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:91308554C>T	ENST00000355112.3	+	9	2221	c.2103C>T	c.(2101-2103)ctC>ctT	p.L701L	BLM_ENST00000560509.1_Silent_p.L701L|BLM_ENST00000560136.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	701	Helicase ATP-binding.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GTTACCAGCTCCCTGCCTGTG	0.403000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				30	395					0	0	0.002096	0	0
SCARF1	8578	broad.mit.edu	37	17	1538059	1538059	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:1538059T>C	ENST00000263071.4	-	11	2535	c.2486A>G	c.(2485-2487)gAa>gGa	p.E829G	SCARF1_ENST00000348987.3_Missense_Mutation_p.E743G|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	829					cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCATCAGGGTTCTGGTGGCCT	0.557000													32	92					0	0	0.003755	0	0
OR2L2	26246	broad.mit.edu	37	1	248201829	248201829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248201829G>A	ENST00000366479.2	+	1	356	c.260G>A	c.(259-261)gGa>gAa	p.G87E	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			tttctgtatggaaacaagtct	0.418000													11	122					0	0	0.000978	0	0
ACE	1636	broad.mit.edu	37	17	61558931	61558931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:61558931G>A	ENST00000290866.4	+	7	974	c.950G>A	c.(949-951)tGg>tAg	p.W317*	ACE_ENST00000538928.1_Nonsense_Mutation_p.W317*|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Nonsense_Mutation_p.W317*	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	317	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTCCAGGGCTGGAACGCCACG	0.657000													5	21					0	0	0.000602	0	0
EPO	2056	broad.mit.edu	37	7	100320646	100320646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:100320646C>T	ENST00000252723.2	+	5	653	c.472C>T	c.(472-474)Cga>Tga	p.R158*		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	158					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	p.R158R(1)		central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	TGCTCCACTCCGAACAATCAC	0.562000													11	119					0	0	0.008291	0	0
MYO5B	4645	broad.mit.edu	37	18	47563245	47563245	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:47563245C>T	ENST00000285039.7	-	4	729	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	144	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TAGGCTTCTTCTGCCACAGCA	0.493000													5	44					0	0	0.001984	0	0
TAAR2	9287	broad.mit.edu	37	6	132939276	132939276	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:132939276G>A	ENST00000367931.1	-	2	68	c.69C>T	c.(67-69)ttC>ttT	p.F23F	TAAR2_ENST00000275191.2_5'UTR|TAAR2_ENST00000537809.1_5'UTR			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	23						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CAGAGCAATTGAATTTTTCCT	0.323000													8	35					0	0	0.008291	0	0
KIAA1045	23349	broad.mit.edu	37	9	34972408	34972408	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:34972408G>A	ENST00000242315.3	+	3	526	c.444G>A	c.(442-444)agG>agA	p.R148R	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Silent_p.R148R	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	148							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			TCCCGTGCAGGGTCTGCACCA	0.562000													10	105					0	0	0.006214	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39913601	39913601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:39913601C>T	ENST00000425673.1	+	16	2145	c.1820C>T	c.(1819-1821)cCt>cTt	p.P607L	PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P636L|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P577L|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409797.2_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	636					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCAAAATTCCTGACGTGCCC	0.532000													4	51					0	0	0.000602	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672852	141672852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:141672852G>A	ENST00000547270.1	-	1	721	c.638C>T	c.(637-639)tCt>tTt	p.S213F		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	213					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CAGCATCCCAGAAGAAACCAG	0.468000													4	49					0	0	0.000248	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576847	158576847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158576847C>T	ENST00000361284.1	+	1	619	c.619C>T	c.(619-621)Ctc>Ttc	p.L207F		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCTTTTGGTCCTCTTGGTCTC	0.522000													8	101					0	0	0.004482	0	0
ILDR1	286676	broad.mit.edu	37	3	121712387	121712387	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:121712387G>A	ENST00000273691.3	-	6	1182	c.1077C>T	c.(1075-1077)caC>caT	p.H359H	ILDR1_ENST00000393631.1_Silent_p.H314H|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Silent_p.H371H|ILDR1_ENST00000344209.5_Silent_p.H403H	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	403						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TAGAGCTACGGTGCCTTCCAC	0.597000													5	28					0	0	0.000602	0	0
AMER3	205147	broad.mit.edu	37	2	131520094	131520094	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:131520094G>A	ENST00000423981.1	+	2	559	c.449G>A	c.(448-450)aGg>aAg	p.R150K	AMER3_ENST00000321420.4_Missense_Mutation_p.R150K	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		CCGAGGAAGAGGATTTCCCTG	0.602000													6	41					0	0	0.001984	0	0
IRF6	3664	broad.mit.edu	37	1	209961957	209961957	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:209961957C>T	ENST00000367021.3	-	9	1384	c.1212G>A	c.(1210-1212)gaG>gaA	p.E404E	IRF6_ENST00000542854.1_Silent_p.E309E	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	404					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CAGAAAACATCTCGTAGATCA	0.468000										HNSCC(57;0.16)			10	30					0	0	0.000978	0	0
METRNL	284207	broad.mit.edu	37	17	81043044	81043044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:81043044G>A	ENST00000571814.1	+	1	1096	c.155G>A	c.(154-156)gGg>gAg	p.G52E	METRNL_ENST00000320095.7_Missense_Mutation_p.G134E|METRNL_ENST00000570778.1_Missense_Mutation_p.G52E			Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	134						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GTACCAGACGGGGACGGCAGG	0.637000													4	54					0	0	0.000248	0	0
GOLGA6L17P	642402	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413000													3	9					0	0	0.001168	0	0
UBAP2L	9898	broad.mit.edu	37	1	154218775	154218775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:154218775C>T	ENST00000428931.1	+	11	1105	c.938C>T	c.(937-939)cCt>cTt	p.P313L	UBAP2L_ENST00000361546.2_Missense_Mutation_p.P313L|UBAP2L_ENST00000271877.7_Missense_Mutation_p.P324L|UBAP2L_ENST00000343815.6_Missense_Mutation_p.P313L	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	313					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGGCCCAGCCTCTGGTGTTC	0.468000													10	108					0	0	0.006214	0	0
GLIPR1L1	256710	broad.mit.edu	37	12	75741450	75741450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:75741450C>T	ENST00000312442.2	+	3	515	c.469C>T	c.(469-471)Cct>Tct	p.P157S	GLIPR1L1_ENST00000378695.4_Missense_Mutation_p.P157S|CAPS2_ENST00000442339.2_Intron	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	157						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						TGCAATGTGTCCTAACCTTGG	0.333000													6	84					0	0	0.001984	0	0
POLR3B	55703	broad.mit.edu	37	12	106824229	106824229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:106824229C>T	ENST00000228347.4	+	14	1664	c.1442C>T	c.(1441-1443)cCt>cTt	p.P481L	POLR3B_ENST00000539066.1_Missense_Mutation_p.P423L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	481					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						ATGCTGTGTCCTTCGGACACT	0.527000													7	41					0	0	0.003080	0	0
NLRP2	55655	broad.mit.edu	37	19	55501907	55501907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55501907G>A	ENST00000543010.1	+	10	2718	c.2575G>A	c.(2575-2577)Gac>Aac	p.D859N	NLRP2_ENST00000391721.4_Missense_Mutation_p.D835N|NLRP2_ENST00000537859.1_Missense_Mutation_p.D837N|NLRP2_ENST00000448584.2_Missense_Mutation_p.D859N|NLRP2_ENST00000538819.1_Missense_Mutation_p.D835N|NLRP2_ENST00000263437.6_Missense_Mutation_p.D856N|NLRP2_ENST00000339757.7_Missense_Mutation_p.D837N|NLRP2_ENST00000427260.2_Missense_Mutation_p.D836N	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	859					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CAATTGCAAGGACCTTGCTGC	0.507000													4	45					0	0	0.000248	0	0
CCR5	1234	broad.mit.edu	37	3	46414630	46414630	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:46414630C>T	ENST00000343801.4	+	3	594	c.237C>T	c.(235-237)ttC>ttT	p.F79F	CCR5_ENST00000445772.1_Silent_p.F79F|CCR5_ENST00000292303.4_Silent_p.F79F|RP11-24F11.2_ENST00000451485.1_RNA	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	79					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	ACCTGTTTTTCCTTCTTACTG	0.483000													8	109					0	0	0.006214	0	0
PSMB11	122706	broad.mit.edu	37	14	23511855	23511855	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:23511855G>A	ENST00000408907.2	+	1	480	c.421G>A	c.(421-423)Gga>Aga	p.G141R		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	141					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		TCAATACCGGGGACTGGATCT	0.627000													7	59					0	0	0.006214	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280501	32280501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:32280501C>T	ENST00000360482.2	-	2	563	c.434G>A	c.(433-435)aGa>aAa	p.R145K	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.R145K|SPOCD1_ENST00000533231.1_Missense_Mutation_p.R145K	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	145					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GGCCAGAGCTCTCTCTGGGAG	0.587000													9	76					0	0	0.008291	0	0
ABCA4	24	broad.mit.edu	37	1	94471041	94471041	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:94471041G>A	ENST00000370225.3	-	44	6189	c.6103C>T	c.(6103-6105)Ctt>Ttt	p.L2035F	ABCA4_ENST00000535881.1_Missense_Mutation_p.L154F|ABCA4_ENST00000536513.1_Missense_Mutation_p.L305F|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2035	ABC transporter 2.		L -> P (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CGGGCATAAAGGTAAAGATGT	0.413000													6	77					0	0	0.001984	0	0
CSMD3	114788	broad.mit.edu	37	8	114031305	114031305	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:114031305G>A	ENST00000297405.5	-	6	1265	c.1021C>T	c.(1021-1023)Ccc>Tcc	p.P341S	CSMD3_ENST00000343508.3_Missense_Mutation_p.P301S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P341S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P341S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	341	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTTGATAGGGAGCACTAAAT	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	31					0	0	0.003330	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367481	234367481	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:234367481G>A	ENST00000366618.3	+	3	747	c.602G>A	c.(601-603)cGa>cAa	p.R201Q	SLC35F3_ENST00000366617.3_Missense_Mutation_p.R132Q	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	132					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTGAAGCAGCGATACAGGTAG	0.597000													6	68					0	0	0.001168	0	0
PIAS3	10401	broad.mit.edu	37	1	145585607	145585607	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:145585607C>T	ENST00000393045.2	+	14	1962	c.1872C>T	c.(1870-1872)atC>atT	p.I624I	PIAS3_ENST00000369298.1_Silent_p.I589I	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	624					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGTCAGACATCATTTCCCTGG	0.597000													29	100					0	0	0.002836	0	0
SYCP1	6847	broad.mit.edu	37	1	115454199	115454199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:115454199G>A	ENST00000369522.3	+	18	1765	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	SYCP1_ENST00000369518.1_Missense_Mutation_p.E509K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	509				IQLTAITTSEQYYSKEVKDLKTELENEK -> YSYCHYHKW TVLPKRGQRPKLSSKRE (in Ref. 2; BAA22586).	cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTTGAAAACGAGAAGTATGT	0.249000													4	11					0	0	0.000248	0	0
RAB28	9364	broad.mit.edu	37	4	13476015	13476015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:13476015G>A	ENST00000288723.4	-	3	402	c.188C>T	c.(187-189)aCc>aTc	p.T63I	RAB28_ENST00000338176.4_Missense_Mutation_p.T63I|RAB28_ENST00000330852.5_Missense_Mutation_p.T63I	NM_004249.3	NP_004240.2	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	63					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						AATTTGAAGGGTAACATTCAA	0.303000													17	91					0	0	0.004990	0	0
CST5	1473	broad.mit.edu	37	20	23856866	23856866	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:23856866C>T	ENST00000304710.4	-	3	461	c.388G>A	c.(388-390)Gat>Aat	p.D130N		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	130						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						GAAATTTTATCCTCCCAGGGA	0.478000													7	77					0	0	0.006214	0	0
TMEM159	57146	broad.mit.edu	37	16	21181780	21181780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:21181780C>T	ENST00000233047.4	+	3	587	c.119C>T	c.(118-120)cCa>cTa	p.P40L	TMEM159_ENST00000572599.1_Missense_Mutation_p.P40L|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000261388.3_Missense_Mutation_p.P40L|TMEM159_ENST00000572258.1_Missense_Mutation_p.P40L|TMEM159_ENST00000451578.2_Missense_Mutation_p.P64L			Q96B96	TM159_HUMAN	transmembrane protein 159	40						integral to membrane				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		ATGAAGTCTCCAGTGGGTCAG	0.522000													17	142					0	0	0.002299	0	0
SV2B	9899	broad.mit.edu	37	15	91795653	91795653	+	Silent	SNP	G	G	A	rs140898181		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:91795653G>A	ENST00000394232.1	+	4	1157	c.687G>A	c.(685-687)cgG>cgA	p.R229R	SV2B_ENST00000330276.4_Silent_p.R229R|SV2B_ENST00000545111.2_Silent_p.R78R	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	229					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.R229R(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TCTTGTCTCGGGAGAAGCGAG	0.488000													40	394					0	0	0.003610	0	0
MYH8	4626	broad.mit.edu	37	17	10300303	10300303	+	Splice_Site	SNP	C	C	T	rs143515663		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10300303C>T	ENST00000403437.2	-	31	4273	c.4178_splice	c.e31-1	p.K1393_splice	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1393					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCAACTTTTTCCTGAAAAGTT	0.478000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				4	30					0	0	0.000248	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775788	77775788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:77775788G>A	ENST00000521891.2	+	11	10286	c.9838G>A	c.(9838-9840)Gga>Aga	p.G3280R	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G3235R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G3254R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G3231R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3231						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCAGCTCCCTGGAACAGTGCA	0.527000										HNSCC(33;0.089)			29	58					0	0	0.001786	0	0
CSE1L	1434	broad.mit.edu	37	20	47688928	47688928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:47688928C>T	ENST00000262982.2	+	9	997	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	CSE1L_ENST00000396192.3_Intron|CSE1L_ENST00000542325.1_Missense_Mutation_p.R75C	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	292					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			ATACCTGCCTCGTTTTGTTAC	0.398000													7	51					0	0	0.003080	0	0
SAMD7	344658	broad.mit.edu	37	3	169644351	169644351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:169644351G>A	ENST00000428432.2	+	6	690	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	SAMD7_ENST00000335556.3_Missense_Mutation_p.E101K	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	101								p.E101K(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GACAGAAATGGAAATGTATGC	0.388000													5	26					0	0	0.000602	0	0
DNAH7	56171	broad.mit.edu	37	2	196605556	196605556	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:196605556G>A	ENST00000312428.6	-	64	11902	c.11802C>T	c.(11800-11802)tcC>tcT	p.S3934S	DNAH7_ENST00000484183.1_5'UTR|DNAH7_ENST00000409063.1_Silent_p.S417S	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3934					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCTATTCCAGGAAGCTCCAT	0.308000													5	98					0	0	0.001984	0	0
UTRN	7402	broad.mit.edu	37	6	145160346	145160346	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:145160346G>A	ENST00000367545.3	+	71	10103	c.10103G>A	c.(10102-10104)tGg>tAg	p.W3368*	UTRN_ENST00000367526.4_Nonsense_Mutation_p.W923*	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3368					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GTTTCCCCATGGGCTTCTCCT	0.498000													6	57					0	0	0.003080	0	0
LAMC2	3918	broad.mit.edu	37	1	183177070	183177070	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:183177070G>A	ENST00000264144.4	+	2	199	c.134G>A	c.(133-135)aGa>aAa	p.R45K	LAMC2_ENST00000493293.1_Missense_Mutation_p.R45K	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	45	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GAACTTCACAGACAAACTGGT	0.448000													10	193					0	0	0.006214	0	0
C1RL	51279	broad.mit.edu	37	12	7249576	7249576	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:7249576G>A	ENST00000266542.4	-	6	967	c.875C>T	c.(874-876)tCt>tTt	p.S292F	C1RL_ENST00000504702.2_Intron|C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_Missense_Mutation_p.L308F	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	292	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTTCCTGAGAGAAACACTGTC	0.582000													9	34					0	0	0.004482	0	0
MMP26	56547	broad.mit.edu	37	11	5010967	5010967	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:5010967G>A	ENST00000380390.1	+	3	405	c.189G>A	c.(187-189)cgG>cgA	p.R63R	MMP26_ENST00000300762.1_Silent_p.R63R|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	63					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		AATTCCATCGGAATGGGACAG	0.522000													6	31					0	0	0.001984	0	0
REPIN1	29803	broad.mit.edu	37	7	150069734	150069734	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:150069734C>T	ENST00000397281.2	+	4	1893	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	REPIN1_ENST00000444957.1_Silent_p.F468F|REPIN1_ENST00000540729.1_Silent_p.F468F|REPIN1_ENST00000425389.2_Silent_p.F468F|REPIN1_ENST00000489432.2_Silent_p.F525F|REPIN1_ENST00000479668.1_3'UTR	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	468					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCAAGGCCTTCCGCCACAAAC	0.701000													4	24					0	0	0.000602	0	0
MYO7B	4648	broad.mit.edu	37	2	128335722	128335722	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:128335722C>T	ENST00000389524.4	+	9	917	c.864C>T	c.(862-864)tcC>tcT	p.S288S	MYO7B_ENST00000409816.2_Silent_p.S288S|MYO7B_ENST00000428314.1_Silent_p.S288S			Q6PIF6	MYO7B_HUMAN	myosin VIIB	288	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACTGCACTTCCTGTGAGGGGC	0.627000													3	18					0	0	0.004672	0	0
CA2	760	broad.mit.edu	37	8	86389390	86389390	+	Silent	SNP	C	C	T	rs151021025	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:86389390C>T	ENST00000285379.5	+	6	779	c.549C>T	c.(547-549)ctC>ctT	p.L183L		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	183					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CTCGTGGCCTCCTTCCTGAAT	0.507000													55	143					0	0	0.003610	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558863	140558863	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140558863C>T	ENST00000239444.2	+	1	1493	c.1248C>T	c.(1246-1248)gcC>gcT	p.A416A		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		416	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAGCAGAGCCGAGTACAACG	0.507000													8	79					0	0	0.003080	0	0
KLHL7	55975	broad.mit.edu	37	7	23183560	23183560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:23183560C>T	ENST00000322231.7	+	7	1133	c.643C>T	c.(643-645)Ctt>Ttt	p.L215F	KLHL7_ENST00000339077.4_Missense_Mutation_p.L237F|KLHL7_ENST00000409689.1_Missense_Mutation_p.L189F|KLHL7_ENST00000542558.1_Missense_Mutation_p.L12F|KLHL7_ENST00000545443.1_Missense_Mutation_p.L215F|KLHL7_ENST00000539124.1_Missense_Mutation_p.L161F			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	237						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAGGTTTCCTCTTATATCAAA	0.383000													7	87					0	0	0.001984	0	0
MTTP	4547	broad.mit.edu	37	4	100512405	100512405	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:100512405G>A	ENST00000457717.1	+	6	771	c.515G>A	c.(514-516)gGa>gAa	p.G172E	MTTP_ENST00000511045.1_Missense_Mutation_p.G199E|MTTP_ENST00000265517.5_Missense_Mutation_p.G172E	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	172	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GATATCTCTGGAAATTGTAAA	0.413000													16	42					0	0	0.004990	0	0
IGHV1-8	28472	broad.mit.edu	37	14	106539233	106539233	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:106539233C>T	ENST00000390599.2	-	0	258																											CCATCCCATCCACTCAAGCCC	0.537000													21	94					0	0	0.001882	0	0
TRPM2	7226	broad.mit.edu	37	21	45833940	45833940	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:45833940C>T	ENST00000397928.1	+	20	3574	c.3129C>T	c.(3127-3129)ctC>ctT	p.L1043L	TRPM2_ENST00000397932.2_Silent_p.L1043L|TRPM2_ENST00000300481.9_Silent_p.L1023L|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.L1043L	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1043						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGCTCAACCTCCTCATCGCCA	0.657000													14	165					0	0	0.004007	0	0
AMER2	219287	broad.mit.edu	37	13	25743772	25743772	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:25743772C>T	ENST00000357816.2	-	3	2104	c.1629G>A	c.(1627-1629)acG>acA	p.T543T	AMER2_ENST00000515384.1_Silent_p.T662T|AMER2_ENST00000381853.3_Silent_p.T543T					APC membrane recruitment protein 2																		CGTGGCAGGCCGTTGCTCTGA	0.552000													6	52					0	0	0.001168	0	0
KCNH7	90134	broad.mit.edu	37	2	163241236	163241236	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:163241236C>T	ENST00000332142.5	-	13	3023	c.2924G>A	c.(2923-2925)gGa>gAa	p.G975E		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	975					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GTGCATTCTTCCTGAGGTGGG	0.428000													9	60					0	0	0.004482	0	0
PTK2B	2185	broad.mit.edu	37	8	27288476	27288476	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:27288476C>T	ENST00000397501.1	+	13	1561	c.753C>T	c.(751-753)ttC>ttT	p.F251F	PTK2B_ENST00000420218.2_Silent_p.F251F|PTK2B_ENST00000544172.1_Silent_p.F251F|PTK2B_ENST00000338238.4_Silent_p.F251F|PTK2B_ENST00000346049.5_Silent_p.F251F|PTK2B_ENST00000517339.1_Silent_p.F251F|PTK2B_ENST00000397497.4_5'UTR	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	251	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TGAAGTTCTTCAACACTCTCG	0.577000													10	65					0	0	0.006214	0	0
NEB	4703	broad.mit.edu	37	2	152484210	152484210	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:152484210T>A	ENST00000427231.2	-	69	10172	c.9970A>T	c.(9970-9972)Aag>Tag	p.K3324*	NEB_ENST00000603639.1_Nonsense_Mutation_p.K3324*|NEB_ENST00000172853.10_Nonsense_Mutation_p.K3081*|NEB_ENST00000604864.1_Nonsense_Mutation_p.K3324*|NEB_ENST00000397345.3_Nonsense_Mutation_p.K3324*|NEB_ENST00000409198.1_Nonsense_Mutation_p.K3081*	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	3324					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCTTCCACTTCTCAAAGTCC	0.507000													37	238					0	0	0.008740	0	0
CD101	9398	broad.mit.edu	37	1	117552638	117552638	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:117552638C>T	ENST00000256652.4	+	2	268	c.210C>T	c.(208-210)gtC>gtT	p.V70V	CD101_ENST00000369470.1_Silent_p.V70V	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	70	Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCCAGGAAGTCCAGATCATTA	0.557000													4	53					0	0	0.000248	0	0
KCNH1	3756	broad.mit.edu	37	1	211280656	211280656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:211280656C>T	ENST00000367007.4	-	2	312	c.143G>A	c.(142-144)gGa>gAa	p.G48E	KCNH1_ENST00000271751.4_Missense_Mutation_p.G48E	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	48	PAS.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTTGCAAAATCCATCATTGCT	0.393000													5	119					0	0	0.001168	0	0
OR2J2	26707	broad.mit.edu	37	6	29142318	29142318	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:29142318G>A	ENST00000377167.2	+	1	1008	c.906G>A	c.(904-906)gcG>gcA	p.A302A		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AAGGGGCAGCGAAGAGACTAT	0.453000													8	84					0	0	0.003080	0	0
SPATA31A7	26165	broad.mit.edu	37	9	65506468	65506468	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:65506468C>T	ENST00000355045.2	-	4	1120	c.1092G>A	c.(1090-1092)cgG>cgA	p.R364R		NM_015667.2	NP_056482.2			SPATA31 subfamily A, member 7																		TAGCCAAATTCCGCAAATAAT	0.433000													58	197					0	0	0.003610	0	0
JARID2	3720	broad.mit.edu	37	6	15517407	15517407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:15517407G>A	ENST00000341776.2	+	17	3710	c.3466G>A	c.(3466-3468)Gaa>Aaa	p.E1156K	JARID2_ENST00000397311.3_Missense_Mutation_p.E984K	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1156					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ACAAGAGAACGAAAACGTCGT	0.602000													12	34					0	0	0.000978	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725214	140725214	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140725214G>A	ENST00000253812.6	+	1	1614	c.1614G>A	c.(1612-1614)ggG>ggA	p.G538G	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGACAGCGGGAACCCTCCAC	0.567000													18	81					0	0	0.008871	0	0
TRANK1	9881	broad.mit.edu	37	3	36898710	36898710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:36898710C>T	ENST00000429976.2	-	12	2618	c.2371G>A	c.(2371-2373)Gag>Aag	p.E791K	TRANK1_ENST00000428977.2_Missense_Mutation_p.E241K|TRANK1_ENST00000301807.6_Missense_Mutation_p.E241K			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	791					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CACTCGATCTCCCAGGTCATG	0.493000													26	160					0	0	0.001786	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175741	143175741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:143175741C>T	ENST00000408916.1	+	1	776	c.776C>T	c.(775-777)tCc>tTc	p.S259F	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	259					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					AAATTTATCTCCATGCAGAAC	0.478000													13	93					0	0	0.003163	0	0
EPC2	26122	broad.mit.edu	37	2	149542258	149542258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:149542258C>T	ENST00000258484.6	+	13	2073	c.2039C>T	c.(2038-2040)tCc>tTc	p.S680F		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	680					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ACATTATACTCCACCAATATG	0.373000													8	48					0	0	0.006214	0	0
OR1L3	26735	broad.mit.edu	37	9	125437994	125437994	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:125437994G>A	ENST00000304820.2	+	1	680	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						CTTTGTCAATGAAATTGTGGC	0.433000													17	109					0	0	0.004990	0	0
COL5A3	50509	broad.mit.edu	37	19	10112453	10112453	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:10112453C>T	ENST00000264828.3	-	7	1039	c.954G>A	c.(952-954)acG>acA	p.T318T		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	318	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTCTAGGATCGTGGCATTGA	0.552000											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	80					0	0	0.000978	0	0
RYR2	6262	broad.mit.edu	37	1	237880638	237880638	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:237880638C>T	ENST00000366574.2	+	72	10781	c.10464C>T	c.(10462-10464)ctC>ctT	p.L3488L	RYR2_ENST00000360064.6_Silent_p.L3486L|RYR2_ENST00000542537.1_Silent_p.L3472L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3488					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCAGGAGCTCATTGCTCTGG	0.493000													4	21					0	0	0.000248	0	0
RPRD2	23248	broad.mit.edu	37	1	150445226	150445226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:150445226C>T	ENST00000401000.4	+	10	3789	c.3724C>T	c.(3724-3726)Cct>Tct	p.P1242S	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.P1268S			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1268	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AATTCCTTTCCCTACCCCACC	0.612000													7	68					0	0	0.003080	0	0
TRIM31	11074	broad.mit.edu	37	6	30078327	30078327	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:30078327C>T	ENST00000376734.3	-	4	767	c.642G>A	c.(640-642)ggG>ggA	p.G214G	TRIM31_ENST00000485864.1_5'UTR|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Silent_p.G214G	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	214						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						CATAGTGTTTCCCCGCTTCCG	0.512000													22	78					0	0	0.002299	0	0
CXCL12	6387	broad.mit.edu	37	10	44871446	44871446	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:44871446T>A	ENST00000374426.2	-	4	338	c.301A>T	c.(301-303)Aag>Tag	p.K101*	CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000395795.4_Intron	NM_001033886.2	NP_001029058.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	TTTCCTATCTTTTCTTTTTTC	0.398000													20	262					0	0	0.002299	0	0
DMBT1	1755	broad.mit.edu	37	10	124358543	124358543	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:124358543G>A	ENST00000338354.3	+	26	3316	c.3210G>A	c.(3208-3210)tgG>tgA	p.W1070*	DMBT1_ENST00000368956.2_Nonsense_Mutation_p.W571*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.W1060*|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.W1060*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.W571*|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.W1070*			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1070	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTTACCTGTGGAGCTGCCCCC	0.587000													7	80					0	0	0.001984	0	0
FPR3	2359	broad.mit.edu	37	19	52327053	52327053	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:52327053G>A	ENST00000339223.4	+	2	231	c.52G>A	c.(52-54)Gag>Aag	p.E18K	FPR3_ENST00000595991.1_Missense_Mutation_p.E18K	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	18					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GGTGCTCCCTGAGCCTGCTGG	0.527000													11	36					0	0	0.001368	0	0
IKBKE	9641	broad.mit.edu	37	1	206651605	206651605	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:206651605C>T	ENST00000367120.3	+	9	1288	c.915C>T	c.(913-915)atC>atT	p.I305I	IKBKE_ENST00000537984.1_Silent_p.I220I|IKBKE_ENST00000462698.1_3'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	305	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCAGTGACATCCTGCAGCGAG	0.602000													17	124					0	0	0.004990	0	0
LRP2	4036	broad.mit.edu	37	2	170136033	170136033	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:170136033G>A	ENST00000263816.3	-	12	1699	c.1414C>T	c.(1414-1416)Ctg>Ttg	p.L472L	LRP2_ENST00000443831.1_Silent_p.L472L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	472					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCCACAGCCAGGTTCTCTGGG	0.353000													11	60					0	0	0.001855	0	0
CACNG3	10368	broad.mit.edu	37	16	24372779	24372779	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:24372779C>T	ENST00000005284.3	+	4	1745	c.543C>T	c.(541-543)ttC>ttT	p.F181F		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	181					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CCTTTTATTTCGGAGCCTTCT	0.458000													11	124					0	0	0.008291	0	0
ACSL1	2180	broad.mit.edu	37	4	185694825	185694825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:185694825C>T	ENST00000515030.1	-	9	1158	c.833G>A	c.(832-834)gGa>gAa	p.G278E	ACSL1_ENST00000281455.2_Missense_Mutation_p.G278E|ACSL1_ENST00000507295.1_Missense_Mutation_p.G244E|ACSL1_ENST00000513317.1_Missense_Mutation_p.G278E|ACSL1_ENST00000504342.1_Missense_Mutation_p.G278E|ACSL1_ENST00000437665.3_Missense_Mutation_p.G107E|ACSL1_ENST00000504900.1_Missense_Mutation_p.G278E|ACSL1_ENST00000454703.2_Missense_Mutation_p.G107E			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	278					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACCTGTAGTTCCACTTGTGAA	0.378000													6	16					0	0	0.004482	0	0
FOXJ1	2302	broad.mit.edu	37	17	74133827	74133827	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:74133827G>A	ENST00000322957.6	-	3	1227	c.873C>T	c.(871-873)acC>acT	p.T291T		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	291					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			TGGGCAGCAGGGTGCTGGGGG	0.716000													5	32					0	0	0.001984	0	0
SMIM8	57150	broad.mit.edu	37	6	88046852	88046852	+	Missense_Mutation	SNP	C	C	T	rs138742161		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:88046852C>T	ENST00000392863.1	+	3	192	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	SMIM8_ENST00000229570.5_Missense_Mutation_p.R35C	NM_001042493.1	NP_001035958.1			small integral membrane protein 8																		AACCTTATTTCGTGCTGTGAA	0.433000													11	48					0	0	0.008291	0	0
EFCAB5	374786	broad.mit.edu	37	17	28384850	28384850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:28384850C>T	ENST00000394835.3	+	13	2714	c.2522C>T	c.(2521-2523)tCc>tTc	p.S841F	EFCAB5_ENST00000320856.5_Intron|EFCAB5_ENST00000536908.2_Missense_Mutation_p.S785F|EFCAB5_ENST00000541045.1_Missense_Mutation_p.S498F|EFCAB5_ENST00000378738.3_Missense_Mutation_p.S841F|EFCAB5_ENST00000394832.2_Missense_Mutation_p.S841F	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	841							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACTCTCACCTCCTTTTTTAAG	0.413000													18	69					0	0	0.001523	0	0
DUSP7	1849	broad.mit.edu	37	3	52088040	52088040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:52088040C>T	ENST00000495880.1	-	2	1051	c.868G>A	c.(868-870)Gag>Aag	p.E290K	DUSP7_ENST00000296483.6_Missense_Mutation_p.E239K			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	290					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TAGGTGAACTCGCCGCCGTGC	0.562000													7	65					0	0	0.003080	0	0
FAT4	79633	broad.mit.edu	37	4	126411537	126411537	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:126411537C>T	ENST00000394329.3	+	17	13573	c.13560C>T	c.(13558-13560)gtC>gtT	p.V4520V	FAT4_ENST00000335110.5_Silent_p.V2761V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4520					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCCTCCTGGTCCTTAGCCTGA	0.542000													8	30					0	0	0.006214	0	0
IGF2R	3482	broad.mit.edu	37	6	160430071	160430071	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:160430071T>A	ENST00000356956.1	+	3	467	c.319T>A	c.(319-321)Tct>Act	p.S107T		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	107					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TGCAACCAGATCTCTCCTGGA	0.448000													9	46					0	0	0.004482	0	0
COL20A1	57642	broad.mit.edu	37	20	61957467	61957467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:61957467G>A	ENST00000422202.1	+	29	3511	c.3443G>A	c.(3442-3444)gGa>gAa	p.G1148E	COL20A1_ENST00000435874.1_Missense_Mutation_p.G1148E|COL20A1_ENST00000326996.6_Missense_Mutation_p.G1173E|COL20A1_ENST00000358894.6_Missense_Mutation_p.G1141E			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1141	Collagen-like 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGCCTGGAGGGAACTGCTGGC	0.662000													6	52					0	0	0.003080	0	0
PDE9A	5152	broad.mit.edu	37	21	44171236	44171236	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:44171236C>T	ENST00000291539.6	+	9	724	c.664C>T	c.(664-666)Ccc>Tcc	p.P222S	PDE9A_ENST00000349112.3_Missense_Mutation_p.P94S|PDE9A_ENST00000335440.6_Missense_Mutation_p.P120S|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398236.3_Missense_Mutation_p.P136S|PDE9A_ENST00000335512.4_Missense_Mutation_p.P162S|PDE9A_ENST00000398225.3_Missense_Mutation_p.P181S|PDE9A_ENST00000328862.6_Missense_Mutation_p.P196S|PDE9A_ENST00000398229.3_Missense_Mutation_p.P88S|PDE9A_ENST00000539837.1_Missense_Mutation_p.P94S|PDE9A_ENST00000398232.3_Missense_Mutation_p.P155S|PDE9A_ENST00000380328.2_Missense_Mutation_p.P169S|PDE9A_ENST00000398224.3_Missense_Mutation_p.P95S|PDE9A_ENST00000398234.3_Missense_Mutation_p.P121S|PDE9A_ENST00000398227.3_Missense_Mutation_p.P62S	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	222					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GACCAACTGCCCCTGTAAGTA	0.512000													10	206					0	0	0.000978	0	0
TRPM8	79054	broad.mit.edu	37	2	234839327	234839327	+	Silent	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:234839327T>C	ENST00000324695.4	+	3	172	c.132T>C	c.(130-132)ttT>ttC	p.F44F	TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000409625.1_5'UTR|TRPM8_ENST00000355722.4_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	44						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGGTGAATTTTATTCAAGCAA	0.348000													4	44					0	0	0.001168	0	0
C6	729	broad.mit.edu	37	5	41203264	41203264	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:41203264G>A	ENST00000263413.3	-	2	333	c.69C>T	c.(67-69)ttC>ttT	p.F23F	C6_ENST00000337836.5_Silent_p.F23F	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	23	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGTGATCACAGAAGCAGGCTT	0.507000													9	87					0	0	0.004482	0	0
NCOR2	9612	broad.mit.edu	37	12	124848314	124848314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:124848314G>A	ENST00000356219.3	-	22	2994	c.2839C>T	c.(2839-2841)Ccg>Tcg	p.P947S	NCOR2_ENST00000404121.2_Missense_Mutation_p.P500S|NCOR2_ENST00000429285.2_Missense_Mutation_p.P929S|NCOR2_ENST00000397355.1_Missense_Mutation_p.P930S|NCOR2_ENST00000405201.1_Missense_Mutation_p.P947S|NCOR2_ENST00000404621.1_Missense_Mutation_p.P929S	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	947					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCGCCAGTCGGGGTGAGGAGG	0.711000													6	68					0	0	0.003080	0	0
ABCA4	24	broad.mit.edu	37	1	94487458	94487458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:94487458C>T	ENST00000370225.3	-	33	4803	c.4717G>A	c.(4717-4719)Ggg>Agg	p.G1573R		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1573					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGTGCTTCCCCCGTGATGGGG	0.498000													5	52					0	0	0.001984	0	0
TFPI	7035	broad.mit.edu	37	2	188332622	188332622	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:188332622G>C	ENST00000233156.3	-	7	960	c.666C>G	c.(664-666)gaC>gaG	p.D222E	AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.D222E|AC007319.1_ENST00000412276.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	222	BPTI/Kunitz inhibitor 3.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	ACAATCCTCTGTCTGCTGGAG	0.423000													5	32					0	0	0.001168	0	0
RFPL1	5988	broad.mit.edu	37	22	29837868	29837868	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:29837868C>T	ENST00000354373.2	+	2	920	c.711C>T	c.(709-711)ttC>ttT	p.F237F	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	237	B30.2/SPRY.						zinc ion binding	p.F237F(1)		endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CTTTCCTCTTCGTAGACCGCA	0.512000													22	71					0	0	0.002780	0	0
ITGA3	3675	broad.mit.edu	37	17	48155608	48155608	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:48155608A>T	ENST00000320031.8	+	18	2587	c.2257A>T	c.(2257-2259)Act>Tct	p.T753S	ITGA3_ENST00000007722.7_Missense_Mutation_p.T753S	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	753					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CATGATCCTCACTCTGCTGGT	0.582000													9	69					0	0	0.001855	0	0
PCSK5	5125	broad.mit.edu	37	9	78710846	78710846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:78710846G>A	ENST00000545128.1	+	8	1473	c.935G>A	c.(934-936)gGa>gAa	p.G312E	PCSK5_ENST00000376752.4_Missense_Mutation_p.G312E|PCSK5_ENST00000376767.3_Missense_Mutation_p.G312E	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	312	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGGGCATCTGGAAATGGTGGA	0.493000													7	96					0	0	0.003080	0	0
SEC16A	9919	broad.mit.edu	37	9	139372053	139372053	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:139372053G>A	ENST00000313050.7	-	1	88	c.15C>T	c.(13-15)ccC>ccT	p.P5P		NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1979					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGACCGTCTGGGGCGGTGGCT	0.547000													3	10					0	0	0.004672	0	0
ZNF684	127396	broad.mit.edu	37	1	41013040	41013040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:41013040C>T	ENST00000372699.3	+	5	1296	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			TCAGATAACTCATACAGGAGA	0.373000													16	56					0	0	0.004007	0	0
SPTA1	6708	broad.mit.edu	37	1	158637748	158637748	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158637748C>T	ENST00000368148.3	-	15	2118	c.1938G>A	c.(1936-1938)gaG>gaA	p.E646E	SPTA1_ENST00000368147.3_Silent_p.E646E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	646					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTCAATCATCTCTTGGCCAG	0.468000													12	100					0	0	0.001368	0	0
ATP10B	23120	broad.mit.edu	37	5	160047949	160047949	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:160047949G>A	ENST00000327245.5	-	15	2667	c.1821C>T	c.(1819-1821)atC>atT	p.I607I	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	607					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGAGGGTTTGATGGTGACCT	0.448000													36	135					0	0	0.006230	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122280605	122280605	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:122280605C>T	ENST00000398250.1	+	5	795	c.443C>T	c.(442-444)tCc>tTc	p.S148F	PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.S138F|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.S148F|PPAPDC1A_ENST00000439221.1_Intron	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	148					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		ATCCATTCCTCCTGTAAGTTC	0.512000													5	28					0	0	0.000602	0	0
FRMD7	90167	broad.mit.edu	37	X	131212787	131212787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:131212787C>T	ENST00000298542.4	-	12	1433	c.1258G>A	c.(1258-1260)Gac>Aac	p.D420N	FRMD7_ENST00000464296.1_Missense_Mutation_p.D405N|FRMD7_ENST00000370879.1_Missense_Mutation_p.D300N	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	420					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AAGACAGGGTCCATATAAATA	0.453000													34	61					0	0	0.003755	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858375	9858375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:9858375C>T	ENST00000396573.2	-	14	3335	c.3026G>A	c.(3025-3027)aGa>aAa	p.R1009K	GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1009K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1009K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1009K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1009K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R852K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1009					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTGCCGGGGTCTAGAGTTCGC	0.507000													23	50					0	0	0.002299	0	0
ZAN	7455	broad.mit.edu	37	7	100386863	100386863	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:100386863C>T	ENST00000542585.1	+	0	7396				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGATGGCCGTCCCCTACAGGC	0.567000													5	25					0	0	0.001168	0	0
IL1RL1	9173	broad.mit.edu	37	2	102959823	102959823	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:102959823G>A	ENST00000311734.2	+	8	1257	c.918G>A	c.(916-918)ctG>ctA	p.L306L	IL1RL1_ENST00000233954.1_Silent_p.L306L|IL1RL1_ENST00000409584.1_Silent_p.L292L|IL1RL1_ENST00000404917.2_Silent_p.L189L			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	306	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GTCTGGCCCTGAATTTGCATG	0.433000													10	74					0	0	0.008291	0	0
OR52R1	119695	broad.mit.edu	37	11	4825011	4825011	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:4825011C>T	ENST00000380382.1	-	1	836	c.837G>A	c.(835-837)ggG>ggA	p.G279G	MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Silent_p.G200G|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAGCCCATTCCCACGACTTA	0.493000													4	37					0	0	0.000602	0	0
NDOR1	27158	broad.mit.edu	37	9	140110460	140110460	+	Silent	SNP	C	C	T	rs151243461		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:140110460C>T	ENST00000371521.4	+	12	1628	c.1545C>T	c.(1543-1545)tcC>tcT	p.S515S	NDOR1_ENST00000458322.2_Silent_p.S508S|NDOR1_ENST00000427047.2_Silent_p.S481S|NDOR1_ENST00000344894.5_Silent_p.S515S	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	515					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTGCCTTCTCCCGGGAACAGG	0.607000													12	90					0	0	0.001368	0	0
POM121L12	285877	broad.mit.edu	37	7	53103816	53103816	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:53103816G>A	ENST00000408890.4	+	1	468	c.452G>A	c.(451-453)tGg>tAg	p.W151*		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	151								p.W151L(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GAGAGCCCCTGGAGATCCCCT	0.721000													4	17					0	0	0.000248	0	0
POLR1A	25885	broad.mit.edu	37	2	86292422	86292422	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:86292422G>A	ENST00000263857.6	-	14	2411	c.2033C>T	c.(2032-2034)cCc>cTc	p.P678L	POLR1A_ENST00000409681.1_Missense_Mutation_p.P678L|POLR1A_ENST00000483538.1_5'UTR			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	678					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CAGCGGAAAGGGCTTCAGGAT	0.488000													6	62					0	0	0.001168	0	0
RFX6	222546	broad.mit.edu	37	6	117248493	117248493	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:117248493G>A	ENST00000332958.2	+	17	2205	c.2189G>A	c.(2188-2190)tGg>tAg	p.W730*		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	730					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGCATGGCTTGGACTGAACAG	0.547000													5	47					0	0	0.000602	0	0
CC2D2A	57545	broad.mit.edu	37	4	15591241	15591241	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:15591241A>T	ENST00000424120.1	+	33	4507	c.4253A>T	c.(4252-4254)tAt>tTt	p.Y1418F	CC2D2A_ENST00000413206.1_Missense_Mutation_p.Y1418F|CC2D2A_ENST00000503292.1_Missense_Mutation_p.Y1418F|CC2D2A_ENST00000389652.5_Missense_Mutation_p.Y1310F			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1418					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GGACATTTTTATGGACAATTT	0.378000													14	54					0	0	0.002450	0	0
MYH10	4628	broad.mit.edu	37	17	8473084	8473084	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:8473084G>A	ENST00000360416.3	-	7	848	c.710C>T	c.(709-711)tCa>tTa	p.S237L	MYH10_ENST00000269243.4_Missense_Mutation_p.S227L|MYH10_ENST00000396239.1_Missense_Mutation_p.S227L|MYH10_ENST00000379980.4_Missense_Mutation_p.S243L	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	227	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATTTCCAAATGATTCCAGAAT	0.348000													5	24					0	0	0.000602	0	0
KRT2	3849	broad.mit.edu	37	12	53045717	53045717	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:53045717C>T	ENST00000309680.3	-	1	231	c.210G>A	c.(208-210)aaG>aaA	p.K70K		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	70	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGGAGATGCTCTTGGTCCCTC	0.622000													5	32					0	0	0.001168	0	0
CPA6	57094	broad.mit.edu	37	8	68346387	68346387	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:68346387G>A	ENST00000297770.4	-	9	1142	c.927C>T	c.(925-927)ttC>ttT	p.F309F	CPA6_ENST00000297769.4_Intron	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	309					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GTTTTCGAAGGAAGTTAGCTA	0.433000													15	30					0	0	0.004990	0	0
UNC5C	8633	broad.mit.edu	37	4	96256647	96256647	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:96256647G>A	ENST00000453304.1	-	2	608	c.260C>T	c.(259-261)cCt>cTt	p.P87L	UNC5C_ENST00000504962.1_Missense_Mutation_p.P87L|UNC5C_ENST00000506749.1_Missense_Mutation_p.P87L	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	87	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTGGGTGGCAGGGCTTGCTTT	0.433000													6	45					0	0	0.003080	0	0
ALKBH8	91801	broad.mit.edu	37	11	107403073	107403073	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:107403073C>T	ENST00000428149.2	-	8	982	c.831G>A	c.(829-831)cgG>cgA	p.R277R	ALKBH8_ENST00000389568.3_Silent_p.R277R|ALKBH8_ENST00000417449.2_Silent_p.R280R|ALKBH8_ENST00000429370.1_Intron	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	277	Fe2OG dioxygenase.				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		CCAGCAAACTCCGACGAGGCA	0.383000													7	22					0	0	0.001984	0	0
CFHR3	10878	broad.mit.edu	37	1	196762609	196762609	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:196762609G>A	ENST00000367425.4	+	6	1051	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	CFHR3_ENST00000391985.3_Missense_Mutation_p.R259Q	NM_021023.5	NP_066303.2			complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GCAGTGTGTCGGGAAGGGATA	0.378000													6	55					0	0	0.003080	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660267	77660267	+	Missense_Mutation	SNP	G	G	A	rs140762344	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:77660267G>A	ENST00000296043.6	+	5	1894	c.941G>A	c.(940-942)cGg>cAg	p.R314Q		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	314					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	p.R313L(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TATGACACCCGGAGGGGAGTC	0.547000													4	62					0	0	0.000248	0	0
PARK2	5071	broad.mit.edu	37	6	162622220	162622220	+	Silent	SNP	C	C	T	rs146547001		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:162622220C>T	ENST00000366898.1	-	4	579	c.477G>A	c.(475-477)ccG>ccA	p.P159P	PARK2_ENST00000366897.1_Silent_p.P159P|PARK2_ENST00000366892.1_Silent_p.P159P|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366896.1_Intron	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	159					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TGAGTTTTCCCGGCTGCACTC	0.483000													7	55					0	0	0.001984	0	0
MYCBP2	23077	broad.mit.edu	37	13	77672695	77672695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:77672695G>A	ENST00000407578.2	-	56	8860	c.8594C>T	c.(8593-8595)cCt>cTt	p.P2865L	MYCBP2_ENST00000544440.2_Missense_Mutation_p.P2827L|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.P2827L|MYCBP2_ENST00000360084.5_Missense_Mutation_p.P350L	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2827					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACGTTCCCGAGGAGGATCAAG	0.473000													6	62					0	0	0.001984	0	0
ERG	2078	broad.mit.edu	37	21	39755711	39755711	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:39755711C>T	ENST00000442448.1	-	11	1274	c.1003G>A	c.(1003-1005)Gga>Aga	p.G335R	ERG_ENST00000453032.2_Missense_Mutation_p.G260R|ERG_ENST00000398905.1_Missense_Mutation_p.G328R|ERG_ENST00000398897.1_Missense_Mutation_p.G236R|ERG_ENST00000398907.1_Missense_Mutation_p.G329R|ERG_ENST00000398919.2_Missense_Mutation_p.G359R|ERG_ENST00000288319.7_Missense_Mutation_p.G352R|ERG_ENST00000398910.1_Missense_Mutation_p.G336R|ERG_ENST00000398911.1_Missense_Mutation_p.G335R|ERG_ENST00000417133.2_Missense_Mutation_p.G359R	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	359					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				TTCCGCTCTCCCCAGCGCCGG	0.587000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								8	49					0	0	0.004482	0	0
TTI1	9675	broad.mit.edu	37	20	36631066	36631066	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:36631066G>A	ENST00000373448.2	-	5	2854	c.2616C>T	c.(2614-2616)caC>caT	p.H872H	TTI1_ENST00000373447.3_Silent_p.H872H|TTI1_ENST00000449821.1_Silent_p.H872H	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	872							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CTGACAACAAGTGGATGCAGC	0.527000													15	65					0	0	0.003163	0	0
KCTD7	154881	broad.mit.edu	37	7	66240307	66240307	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:66240307C>T	ENST00000380828.2	+	5	547	c.393C>T	c.(391-393)acC>acT	p.T131T	RABGEF1_ENST00000284957.5_Silent_p.T91T|KCTD7_ENST00000451741.2_Silent_p.T91T|RABGEF1_ENST00000437078.2_Silent_p.T105T|RABGEF1_ENST00000450873.2_Silent_p.T91T|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000439720.2_Silent_p.T104T|KCTD7_ENST00000510829.2_Silent_p.T91T			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AAAAGAAAACCAACGAGAAGA	0.473000													11	33					0	0	0.008291	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961115	73961115	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:73961115C>T	ENST00000373468.1	-	3	3928	c.3277G>A	c.(3277-3279)Gga>Aga	p.G1093R	KIAA2022_ENST00000055682.5_Missense_Mutation_p.G1093R			Q5QGS0	K2022_HUMAN	KIAA2022	1093					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTAGTGTTCCTAGTGTCTTC	0.507000													7	27					0	0	0.003080	0	0
DNAH7	56171	broad.mit.edu	37	2	196753607	196753607	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:196753607C>T	ENST00000312428.6	-	32	5245	c.5145G>A	c.(5143-5145)ctG>ctA	p.L1715L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1715	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCCCACTCATCAGACATAGCT	0.403000													12	59					0	0	0.000978	0	0
ASPM	259266	broad.mit.edu	37	1	197071057	197071057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:197071057G>A	ENST00000367409.4	-	18	7580	c.7324C>T	c.(7324-7326)Cga>Tga	p.R2442*	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2442					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATGGTGGCTCGATATTTCCTC	0.373000													5	80					0	0	0.000602	0	0
AP2B1	163	broad.mit.edu	37	17	33951501	33951501	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:33951501T>A	ENST00000262325.7	+	6	1164	c.611T>A	c.(610-612)aTt>aAt	p.I204N	AP2B1_ENST00000537622.2_Missense_Mutation_p.I204N|AP2B1_ENST00000538556.1_Missense_Mutation_p.I147N|AP2B1_ENST00000589344.1_Missense_Mutation_p.I204N|AP2B1_ENST00000312678.8_Missense_Mutation_p.I204N|AP2B1_ENST00000592545.1_Missense_Mutation_p.I166N|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	204					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CCACAGAACATTAATAAGCTG	0.473000													19	71					0	0	0.001523	0	0
PTGFR	5737	broad.mit.edu	37	1	79002142	79002142	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:79002142G>A	ENST00000370757.3	+	3	1087	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	PTGFR_ENST00000370758.1_Missense_Mutation_p.E284K|PTGFR_ENST00000370756.3_3'UTR	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	284					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GGAAACCTGTGAAACAACACT	0.373000													11	53					0	0	0.000978	0	0
ENPEP	2028	broad.mit.edu	37	4	111470973	111470973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:111470973C>T	ENST00000265162.5	+	17	2774	c.2432C>T	c.(2431-2433)tCa>tTa	p.S811L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	811					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CAGAAAACTTCATTAGCTCAA	0.383000													8	32					0	0	0.004482	0	0
ATP10D	57205	broad.mit.edu	37	4	47548757	47548757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:47548757C>T	ENST00000273859.3	+	10	1782	c.1513C>T	c.(1513-1515)Cat>Tat	p.H505Y	ATP10D_ENST00000504445.1_Missense_Mutation_p.H490Y	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	505					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CAGGACAGTTCATAATGGGCC	0.478000													24	65					0	0	0.004656	0	0
BRIP1	83990	broad.mit.edu	37	17	59763235	59763235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:59763235G>A	ENST00000259008.2	-	19	3134	c.2867C>T	c.(2866-2868)tCa>tTa	p.S956L	BRIP1_ENST00000577598.1_Missense_Mutation_p.S956L	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	956	Interaction with BRCA1.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TGGTAGAGGTGAATTTTTGGT	0.348000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					11	102					0	0	0.004007	0	0
EFHC2	80258	broad.mit.edu	37	X	44120372	44120372	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:44120372C>T	ENST00000420999.1	-	4	638	c.555G>A	c.(553-555)gtG>gtA	p.V185V		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	185							calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						CTGGGGGATTCACTTTGACCC	0.403000													7	40					0	0	0.004482	0	0
HGF	3082	broad.mit.edu	37	7	81339534	81339534	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:81339534C>T	ENST00000222390.5	-	13	1696	c.1470G>A	c.(1468-1470)acG>acA	p.T490T	HGF_ENST00000457544.2_Silent_p.T485T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	490					epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.T490T(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GCAATTGTTTCGTTTTGGCAC	0.328000													13	34					0	0	0.001855	0	0
MYH6	4624	broad.mit.edu	37	14	23866823	23866823	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:23866823C>T	ENST00000405093.3	-	16	1962		c.e16-1		MYH6_ENST00000356287.3_Splice_Site	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha						adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCACTGTCCCCTAAACAGCGA	0.547000													8	52					0	0	0.006214	0	0
CELSR3	1951	broad.mit.edu	37	3	48685349	48685349	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:48685349G>A	ENST00000544264.1	-	21	7349	c.7069C>T	c.(7069-7071)Cga>Tga	p.R2357*	CELSR3_ENST00000164024.4_Nonsense_Mutation_p.R2352*			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2352					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCTGGCCTCGAAAGAGGTTG	0.632000													14	113					0	0	0.004007	0	0
TOM1L1	10040	broad.mit.edu	37	17	53014582	53014582	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:53014582G>A	ENST00000575882.1	+	10	1381	c.1028G>A	c.(1027-1029)gGc>gAc	p.G343D	TOM1L1_ENST00000570371.1_Missense_Mutation_p.G343D|TOM1L1_ENST00000540336.1_Missense_Mutation_p.G231D|TOM1L1_ENST00000575333.1_Missense_Mutation_p.G343D|TOM1L1_ENST00000348161.4_Missense_Mutation_p.G266D|TOM1L1_ENST00000572158.1_Missense_Mutation_p.G336D|TOM1L1_ENST00000445275.2_Missense_Mutation_p.G343D|TOM1L1_ENST00000536554.1_Missense_Mutation_p.G266D	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	343					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						CAACTTTCAGGCTTAAGTAAA	0.448000													5	69					0	0	0.001168	0	0
MIR518F	574472	broad.mit.edu	37	19	54203293	54203293	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:54203293G>A	ENST00000384973.1	+	0	25					NR_030194.1																						CCTCTAGAGGGAAGCACTTTC	0.383000													5	51					0	0	0.001168	0	0
NUTM1	256646	broad.mit.edu	37	15	34648432	34648432	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:34648432G>A	ENST00000537011.1	+	8	2605	c.2223G>A	c.(2221-2223)agG>agA	p.R741R	NUTM1_ENST00000333756.4_Silent_p.R713R|NUTM1_ENST00000438749.3_Silent_p.R731R					NUT midline carcinoma, family member 1																		CTGGGGAGAGGGACGATGTCT	0.552000													7	48					0	0	0.004482	0	0
MAP3K3	4215	broad.mit.edu	37	17	61770952	61770952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:61770952C>T	ENST00000361357.3	+	17	2107	c.1789C>T	c.(1789-1791)Ccg>Tcg	p.P597S	MAP3K3_ENST00000584573.1_Missense_Mutation_p.P593S|MAP3K3_ENST00000579585.1_Missense_Mutation_p.P597S|MAP3K3_ENST00000577395.1_Missense_Mutation_p.P562S|MAP3K3_ENST00000361733.3_Missense_Mutation_p.P566S	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	566	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						AGAGAAACCACCGTGGGCAGA	0.597000													28	63					0	0	0.001786	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138447753	138447753	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:138447753C>T	ENST00000310018.2	-	6	591	c.309G>A	c.(307-309)ctG>ctA	p.L103L	ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000393054.1_Silent_p.L103L|ATP6V0A4_ENST00000353492.4_Silent_p.L103L	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	103					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACTCTCCTTCCAGTTTTTCTA	0.418000													14	46					0	0	0.001855	0	0
KLF9	687	broad.mit.edu	37	9	73027957	73027957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:73027957G>A	ENST00000377126.2	-	1	1583	c.323C>T	c.(322-324)tCc>tTc	p.S108F		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	108	Asp/Glu-rich (acidic).				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						CGGGCTGTGGGAAGGACTCGA	0.632000													8	72					0	0	0.003080	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69420422	69420422	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:69420422G>A	ENST00000357336.3	+	13	1593	c.1312G>A	c.(1312-1314)Gat>Aat	p.D438N		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	438										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GGAAGAGCATGATAGGTAAGC	0.378000													8	138					0	0	0.000978	0	0
HNF4A	3172	broad.mit.edu	37	20	43043164	43043164	+	Silent	SNP	C	C	T	rs146307320		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:43043164C>T	ENST00000316099.3	+	5	599	c.510C>T	c.(508-510)tcC>tcT	p.S170S	HNF4A_ENST00000457232.1_Silent_p.S148S|HNF4A_ENST00000415691.1_Silent_p.S170S|HNF4A_ENST00000443598.2_Silent_p.S170S	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	170					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.S170S(2)|p.S148S(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCCCCGTCTCCGGGATCAACG	0.592000													33	207					0	0	0.002836	0	0
ILDR2	387597	broad.mit.edu	37	1	166927185	166927185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:166927185C>T	ENST00000271417.3	-	2	255	c.200G>A	c.(199-201)gGa>gAa	p.G67E	ILDR2_ENST00000529071.1_Missense_Mutation_p.G67E|ILDR2_ENST00000469934.2_Missense_Mutation_p.G67E|ILDR2_ENST00000526687.1_Missense_Mutation_p.G67E|ILDR2_ENST00000528703.1_Missense_Mutation_p.G67E|ILDR2_ENST00000529387.1_Missense_Mutation_p.G67E|ILDR2_ENST00000525740.1_Missense_Mutation_p.G67E	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	67	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CAAGGATTCTCCCATGCGATC	0.547000													13	105					0	0	0.003163	0	0
PTCHD2	57540	broad.mit.edu	37	1	11589905	11589905	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:11589905G>A	ENST00000294484.6	+	15	3129	c.2991G>A	c.(2989-2991)ggG>ggA	p.G997G	PTCHD2_ENST00000389575.3_Silent_p.G997G	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	997					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGGGCTGCGGGAAGCCGGCGG	0.627000													6	45					0	0	0.004482	0	0
RPL3L	6123	broad.mit.edu	37	16	1996721	1996721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:1996721G>A	ENST00000268661.7	-	7	950	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	286					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CTGCCGATGCGGAAGATCTGC	0.627000													6	15					0	0	0.001984	0	0
LYST	1130	broad.mit.edu	37	1	235950643	235950643	+	Silent	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:235950643T>C	ENST00000389794.3	-	14	4893	c.4719A>G	c.(4717-4719)aaA>aaG	p.K1573K	LYST_ENST00000389793.2_Silent_p.K1573K|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1573					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTAAAACAGCTTTCATGTCAT	0.383000													28	117					0	0	0.006320	0	0
THSD4	79875	broad.mit.edu	37	15	71535002	71535002	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:71535002G>A	ENST00000355327.3	+	5	613	c.479G>A	c.(478-480)gGt>gAt	p.G160D	THSD4_ENST00000261862.6_Missense_Mutation_p.G160D			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	160	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGGACCCGTGGTACCATTGGC	0.512000													18	194					0	0	0.008871	0	0
CXCL12	6387	broad.mit.edu	37	10	44871460	44871460	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:44871460A>C	ENST00000374426.2	-	4	324	c.287T>G	c.(286-288)gTg>gGg	p.V96G	CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000395795.4_Intron	NM_001033886.2	NP_001029058.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	TTTTTTCCCCACTTTTTCTTC	0.388000													17	231					0	0	0.008871	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140983	143140983	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:143140983C>T	ENST00000332690.1	+	1	438	c.438C>T	c.(436-438)ttC>ttT	p.F146F	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	146					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GGATGCTCTTCAGCTCTGTAG	0.453000													10	115					0	0	0.008291	0	0
EML3	256364	broad.mit.edu	37	11	62376026	62376026	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:62376026G>A	ENST00000394773.2	-	9	1405	c.1098C>T	c.(1096-1098)gcC>gcT	p.A366A	EML3_ENST00000494176.2_Silent_p.A338A|EML3_ENST00000278845.4_Silent_p.A367A|EML3_ENST00000531557.1_Silent_p.A149A|EML3_ENST00000529309.1_Silent_p.A366A	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	366						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAGCTGAAAAGGCCAGGGCCC	0.602000													20	116					0	0	0.001523	0	0
OCIAD2	132299	broad.mit.edu	37	4	48894821	48894821	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:48894821G>A	ENST00000508632.1	-	6	583	c.351C>T	c.(349-351)ctC>ctT	p.L117L	OCIAD2_ENST00000273860.4_Intron|OCIAD2_ENST00000508069.2_5'UTR	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	117	OCIA.					endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						CAGCCCCACGGAGCTGATCTT	0.383000													16	143					0	0	0.008871	0	0
STXBP5L	9515	broad.mit.edu	37	3	121001148	121001148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:121001148C>T	ENST00000273666.6	+	20	2417	c.2146C>T	c.(2146-2148)Cct>Tct	p.P716S	STXBP5L_ENST00000471454.1_Intron|STXBP5L_ENST00000472879.1_Intron|STXBP5L_ENST00000497029.1_Missense_Mutation_p.P716S|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P716S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	716					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TAACTTTTATCCTGATTTAAC	0.388000													6	42					0	0	0.003080	0	0
DSCAM	1826	broad.mit.edu	37	21	41459205	41459205	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:41459205C>T	ENST00000400454.1	-	22	4337	c.3860G>A	c.(3859-3861)cGa>cAa	p.R1287Q		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1287	Ig-like C2-type 10.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGTCAGGATTCGTGCAGGAGC	0.483000													6	79					0	0	0.001984	0	0
TNR	7143	broad.mit.edu	37	1	175332963	175332963	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:175332963C>T	ENST00000367674.1	-	13	3296	c.2587_splice	c.e13-1	p.G863_splice	TNR_ENST00000263525.2_Splice_Site_p.G863_splice	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	863	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGGATCAATTCCTACAAGGAC	0.443000													4	55					0	0	0.000602	0	0
SPATA17	128153	broad.mit.edu	37	1	217947835	217947835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:217947835C>T	ENST00000366933.4	+	7	734	c.679C>T	c.(679-681)Cct>Tct	p.P227S		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	227						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		CCGTTCTTTTCCTCGGTCTGA	0.398000													7	41					0	0	0.001984	0	0
ZNF318	24149	broad.mit.edu	37	6	43323411	43323411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:43323411G>A	ENST00000361428.2	-	4	1738	c.1661C>T	c.(1660-1662)cCc>cTc	p.P554L	ZNF318_ENST00000318149.3_Missense_Mutation_p.P554L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	554					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCTCCCAAGGGGCTTTGGTAC	0.478000													15	168					0	0	0.003163	0	0
SPEN	23013	broad.mit.edu	37	1	16202812	16202812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:16202812C>T	ENST00000375759.3	+	3	724	c.520C>T	c.(520-522)Cga>Tga	p.R174*	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	174	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TAGAGATCCTCGAGAGCGGAC	0.502000													5	23					0	0	0.000602	0	0
AOC1	26	broad.mit.edu	37	7	150554840	150554840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:150554840C>T	ENST00000493429.1	+	4	1866	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	AOC1_ENST00000360937.4_Missense_Mutation_p.R428W|AOC1_ENST00000467291.1_Missense_Mutation_p.R428W|AOC1_ENST00000416793.2_Missense_Mutation_p.R428W					amine oxidase, copper containing 1																		GGTGCCCCTTCGGCGGCACTT	0.542000													5	43					0	0	0.000602	0	0
TFEB	7942	broad.mit.edu	37	6	41654901	41654901	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:41654901C>T	ENST00000394283.1	-	7	1960	c.734G>A	c.(733-735)aGg>aAg	p.R245K	TFEB_ENST00000230323.4_Missense_Mutation_p.R245K|TFEB_ENST00000373033.1_Missense_Mutation_p.R245K|TFEB_ENST00000420312.1_Missense_Mutation_p.R160K|TFEB_ENST00000403298.4_Missense_Mutation_p.R245K|TFEB_ENST00000358871.2_Missense_Mutation_p.R259K			P19484	TFEB_HUMAN	transcription factor EB	245					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CCTTCGTCTCCTTTCAACTAA	0.552000			T	ALPHA	renal (childhood epithelioid)								9	39					0	0	0.006214	0	0
CECR6	27439	broad.mit.edu	37	22	17601081	17601081	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:17601081A>C	ENST00000331437.3	-	1	1062	c.937T>G	c.(937-939)Ttc>Gtc	p.F313V	CECR6_ENST00000399875.1_Intron	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	313	Ala-rich.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		AGGTAGGCGAAGGCGAACTCG	0.736000													6	51					0	0	0.001168	0	0
OR10K1	391109	broad.mit.edu	37	1	158436071	158436071	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158436071C>T	ENST00000289451.2	+	1	800	c.720C>T	c.(718-720)acC>acT	p.T240T		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CCTTCTCCACCTGTGCCTCCC	0.453000													7	72					0	0	0.003080	0	0
MVK	4598	broad.mit.edu	37	12	110032977	110032977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:110032977C>T	ENST00000228510.3	+	10	1106	c.1030C>T	c.(1030-1032)Ctc>Ttc	p.L344F	MVK_ENST00000392727.3_Missense_Mutation_p.L292F|MVK_ENST00000539575.1_Missense_Mutation_p.L292F|MVK_ENST00000539696.1_Missense_Mutation_p.L63F|MVK_ENST00000541384.1_Missense_Mutation_p.L150F	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	344					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						CATCACACTCCTCAAGCCAGG	0.642000													16	36					0	0	0.004990	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12823142	12823142	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:12823142G>A	ENST00000379672.5	+	6	758	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.R153Q|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.R153Q	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	153	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GATTCCTCACGAACCAGGTAG	0.393000													5	12					0	0	0.000602	0	0
DDX59	83479	broad.mit.edu	37	1	200618354	200618354	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:200618354C>T	ENST00000447706.2	-	6	1466	c.1314_splice	c.e6-1	p.D439_splice	DDX59_ENST00000367348.3_Splice_Site_p.D439_splice|DDX59_ENST00000331314.6_Splice_Site_p.D439_splice			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	439	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						AGTTTCTTATCCTGaaaaatt	0.308000													4	58					0	0	0.000248	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927739	43927739	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:43927739C>T	ENST00000282406.4	+	8	1752	c.1642C>T	c.(1642-1644)Cct>Tct	p.P548S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	548						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCACCGTTTTCCTTCTTGGGT	0.468000													24	224					0	0	0.003954	0	0
FCN1	2219	broad.mit.edu	37	9	137808284	137808284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:137808284C>T	ENST00000371806.3	-	2	218	c.127G>A	c.(127-129)Ggc>Agc	p.G43S		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	43					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TTGTCAGAGCCCTCCAGGCCC	0.642000													8	128					0	0	0.003080	0	0
FBXW9	84261	broad.mit.edu	37	19	12800361	12800361	+	Silent	SNP	G	G	A	rs139718306		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:12800361G>A	ENST00000380339.3	-	8	1356	c.1320C>T	c.(1318-1320)acC>acT	p.T440T	FBXW9_ENST00000544494.1_Silent_p.T148T|FBXW9_ENST00000587955.1_Silent_p.T430T|FBXW9_ENST00000393261.3_Silent_p.T410T			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	440							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						TCACCCGGATGGTCTTGTCAG	0.617000													10	44					0	0	0.001368	0	0
EXD2	55218	broad.mit.edu	37	14	69697274	69697274	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:69697274C>T	ENST00000409014.1	+	6	958	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	EXD2_ENST00000409949.1_Missense_Mutation_p.R101C|EXD2_ENST00000409675.1_Missense_Mutation_p.R101C|EXD2_ENST00000409242.1_Missense_Mutation_p.R101C|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.R101C|EXD2_ENST00000409018.3_Missense_Mutation_p.R226C|EXD2_ENST00000312994.5_Missense_Mutation_p.R226C	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	101	3'-5' exonuclease.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	p.R101G(1)|p.R226G(1)		breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CCTTCTACTTCGTTGCAGCAA	0.423000													9	71					0	0	0.006214	0	0
HFM1	164045	broad.mit.edu	37	1	91727940	91727940	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:91727940G>A	ENST00000370425.3	-	38	4194	c.4096C>T	c.(4096-4098)Caa>Taa	p.Q1366*	HFM1_ENST00000294696.5_3'UTR|HFM1_ENST00000370424.3_Nonsense_Mutation_p.Q1045*|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1366							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTCTTTCTTGAAAATGGACC	0.294000													14	101					0	0	0.007413	0	0
RTL1	388015	broad.mit.edu	37	14	101350867	101350867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:101350867C>T	ENST00000534062.1	-	1	317	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	87										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCCTCTATTTCCTTACGTGGG	0.557000													4	54					0	0	0.000602	0	0
VWA3B	200403	broad.mit.edu	37	2	98736213	98736213	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:98736213T>C	ENST00000477737.1	+	4	733	c.529T>C	c.(529-531)Ttc>Ctc	p.F177L	VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Missense_Mutation_p.F177L	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	177										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATAACCGAGTTCAATATCAT	0.448000													7	82					0	0	0.003080	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962779	69962779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:69962779G>A	ENST00000305231.7	+	1	587	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	UGT2B7_ENST00000508661.1_Missense_Mutation_p.E181K|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	181					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTACACTTTTGAAAAGCATAG	0.393000													9	75					0	0	0.004482	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16876498	16876498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:16876498C>T	ENST00000355661.3	-	6	470	c.460G>A	c.(460-462)Gac>Aac	p.D154N	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.D154N|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.D154N|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	154					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						ATGGCCTGGTCTCTCTTCCCA	0.498000													19	46					0	0	0.001882	0	0
CFH	3075	broad.mit.edu	37	1	196715005	196715005	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:196715005C>T	ENST00000367429.4	+	21	3609	c.3369C>T	c.(3367-3369)ttC>ttT	p.F1123F		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1123	Sushi 19.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTACTTCATTCCCGTTGTCAG	0.403000													7	76					0	0	0.008291	0	0
KRT6B	3854	broad.mit.edu	37	12	52841600	52841600	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:52841600G>A	ENST00000252252.3	-	7	1433	c.1386C>T	c.(1384-1386)atC>atT	p.I462I		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	462	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton	p.I462I(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GGTAGGTGGCGATCTCCACAT	0.612000													22	65					0	0	0.002780	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33683134	33683134	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:33683134C>T	ENST00000504830.1	-	5	1239	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E302K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	302	Peptidase M12B.|Poly-Glu.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTTCTTCTTCGAGTAGAATG	0.423000										HNSCC(64;0.19)			11	25					0	0	0.008291	0	0
AASDH	132949	broad.mit.edu	37	4	57216119	57216119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:57216119C>T	ENST00000205214.6	-	11	1978	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	AASDH_ENST00000451613.1_Missense_Mutation_p.E600K|AASDH_ENST00000434343.2_Missense_Mutation_p.E115K|AASDH_ENST00000513376.1_Missense_Mutation_p.E500K|AASDH_ENST00000502617.1_Missense_Mutation_p.E600K|AASDH_ENST00000602986.1_Missense_Mutation_p.E447K	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	600	Acyl carrier.				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				ACAAGTTTTTCAATCTCACTG	0.408000													4	28					0	0	0.000602	0	0
LY75	4065	broad.mit.edu	37	2	160721408	160721408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:160721408C>T	ENST00000263636.4	-	14	2168	c.2141G>A	c.(2140-2142)gGt>gAt	p.G714D	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.G714D|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.G714D|LY75_ENST00000554112.1_Missense_Mutation_p.G714D|LY75_ENST00000553424.1_Missense_Mutation_p.G714D	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTTATTCAAACCAATCCACAG	0.383000													4	47					0	0	0.000602	0	0
CHRNA5	1138	broad.mit.edu	37	15	78882342	78882342	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:78882342G>A	ENST00000299565.5	+	5	809	c.609G>A	c.(607-609)gaG>gaA	p.E203E	RP11-650L12.2_ENST00000567141.1_RNA|CHRNA5_ENST00000559554.1_Intron	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	203					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						TAATTCTAGAGGACCAAGATG	0.408000													6	68					0	0	0.001984	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318178	30318178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:30318178G>A	ENST00000375377.1	-	3	1000	c.899C>T	c.(898-900)tCg>tTg	p.S300L		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	300	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTGCTGGTGCGAGCTGTAAGA	0.592000													4	42					0	0	0.000248	0	0
LRRC15	131578	broad.mit.edu	37	3	194081252	194081252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:194081252C>T	ENST00000347624.3	-	2	606	c.521G>A	c.(520-522)gGa>gAa	p.G174E	LRRC15_ENST00000428839.1_Missense_Mutation_p.G180E|LRRC15_ENST00000439944.2_Missense_Mutation_p.G180E	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	174						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CTTCGTGAGTCCTACCAGGTG	0.592000													18	138					0	0	0.001882	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188446	37188446	+	RNA	SNP	G	G	A	rs35288784		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:37188446G>A	ENST00000425901.2	+	0	2288					NR_033753.2																						AAACCTGACTGAAGTCACAGG	0.478000													15	95					0	0	0.004007	0	0
ESR1	2099	broad.mit.edu	37	6	152332924	152332924	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:152332924G>A	ENST00000440973.1	+	7	1600	c.1230G>A	c.(1228-1230)ttG>ttA	p.L410L	ESR1_ENST00000338799.5_Silent_p.L410L|ESR1_ENST00000544394.1_Silent_p.L237L|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000443427.1_Silent_p.L410L|ESR1_ENST00000456483.2_Silent_p.L298L|ESR1_ENST00000206249.3_Silent_p.L410L	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	410	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	ACTTGCTCTTGGACAGGTAAG	0.463000													4	57					0	0	0.000248	0	0
TAAR8	83551	broad.mit.edu	37	6	132874774	132874774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:132874774C>T	ENST00000275200.1	+	1	943	c.943C>T	c.(943-945)Cct>Tct	p.P315S		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	315						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TCTATTTTATCCTTGGTTTAG	0.333000													5	83					0	0	0.001168	0	0
DNAH9	1770	broad.mit.edu	37	17	11666784	11666784	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:11666784G>A	ENST00000262442.3	+	36	7091	c.7023G>A	c.(7021-7023)gaG>gaA	p.E2341E	DNAH9_ENST00000454412.2_Silent_p.E2341E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2341					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCATCCCAGAGCAGAGCATGG	0.483000													12	100					0	0	0.004007	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600319	141600319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:141600319C>T	ENST00000442267.2	-	5	702	c.628G>A	c.(628-630)Gag>Aag	p.E210K		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	210	GRAM 1.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GCATTCTTCTCAAGCTGAGTG	0.478000													5	100					0	0	0.001168	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516679	140516679	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140516679G>A	ENST00000231134.5	+	1	1880	c.1663G>A	c.(1663-1665)Gac>Aac	p.D555N		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		555	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACGCCAACGACAACTCGCC	0.716000													10	36					0	0	0.000978	0	0
MYO1B	4430	broad.mit.edu	37	2	192252042	192252042	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:192252042C>T	ENST00000392318.3	+	17	1894	c.1647C>T	c.(1645-1647)ctC>ctT	p.L549L	MYO1B_ENST00000304164.4_Silent_p.L549L|MYO1B_ENST00000339514.4_Silent_p.L549L|MYO1B_ENST00000392316.1_Silent_p.L549L	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	549	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GCCATGCCCTCATCAAGTCTT	0.522000													6	65					0	0	0.001168	0	0
PCSK1	5122	broad.mit.edu	37	5	95746664	95746664	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:95746664G>A	ENST00000311106.3	-	8	1146	c.909C>T	c.(907-909)ttC>ttT	p.F303F	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.F256F|PCSK1_ENST00000513085.1_Intron	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	303	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGCCCAGACGAAGATGGACC	0.498000													9	69					0	0	0.004482	0	0
NFASC	23114	broad.mit.edu	37	1	204966327	204966327	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:204966327G>A	ENST00000367172.4	+	27	3461	c.3133G>A	c.(3133-3135)Ggt>Agt	p.G1045S	NFASC_ENST00000404076.1_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000338515.6_Missense_Mutation_p.G1045S|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.G1030S|NFASC_ENST00000339876.6_Missense_Mutation_p.G938S|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000401399.1_Missense_Mutation_p.G938S|NFASC_ENST00000367170.4_Intron|NFASC_ENST00000338586.6_Intron			O94856	NFASC_HUMAN	neurofascin	1045	Thr-rich.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GACTACCGTGGGTGCGACGGG	0.612000													9	38					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179585867	179585867	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179585867G>A	ENST00000589042.1	-	79	23103	c.22879C>T	c.(22879-22881)Caa>Taa	p.Q7627*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q6383*|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q7310*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7310	Ig-like 58.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTCCAGTTGAATGGATTCT	0.358000													13	29					0	0	0.001368	0	0
CSMD1	64478	broad.mit.edu	37	8	3889456	3889456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:3889456G>A	ENST00000602557.1	-	4	1136	c.581C>T	c.(580-582)tCg>tTg	p.S194L	CSMD1_ENST00000602723.1_Missense_Mutation_p.S194L|CSMD1_ENST00000542608.1_Missense_Mutation_p.S194L|CSMD1_ENST00000520002.1_Missense_Mutation_p.S194L|CSMD1_ENST00000539096.1_Missense_Mutation_p.S194L|CSMD1_ENST00000537824.1_Missense_Mutation_p.S194L|CSMD1_ENST00000400186.3_Missense_Mutation_p.S194L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	194	Sushi 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAAGTCCCACGATGCACCATT	0.542000													5	18					0	0	0.001168	0	0
DOLK	22845	broad.mit.edu	37	9	131708265	131708265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:131708265G>A	ENST00000372586.3	-	1	1633	c.1318C>T	c.(1318-1320)Ccc>Tcc	p.P440S	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	440					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CCGGCATAGGGGACGAGGGCC	0.602000													4	56					0	0	0.000248	0	0
UMODL1	89766	broad.mit.edu	37	21	43504230	43504230	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:43504230G>A	ENST00000400427.1	+	3	536	c.140G>A	c.(139-141)gGg>gAg	p.G47E	UMODL1_ENST00000408989.2_Missense_Mutation_p.G119E|UMODL1_ENST00000400424.1_Missense_Mutation_p.G47E|UMODL1_ENST00000408910.2_Missense_Mutation_p.G119E	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	119	EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TCAAGACCTGGGGCCTGCCCC	0.577000													13	109					0	0	0.002450	0	0
SDHA	6389	broad.mit.edu	37	5	225537	225537	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:225537G>A	ENST00000264932.6	+	4	431	c.316G>A	c.(316-318)Gga>Aga	p.G106R	SDHA_ENST00000504309.1_Missense_Mutation_p.G106R|SDHA_ENST00000510361.1_Intron	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	106					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TTTCCAGGGAGGAATCAATGC	0.567000									Familial Paragangliomas				7	38					0	0	0.003080	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474611	140474611	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140474611C>T	ENST00000194155.4	+	1	385	c.237C>T	c.(235-237)ttC>ttT	p.F79F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		79	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTGCAGTTCGATAGGCAGA	0.507000													18	62					0	0	0.001523	0	0
RGS6	9628	broad.mit.edu	37	14	72939610	72939610	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:72939610G>A	ENST00000553530.1	+	9	774	c.567G>A	c.(565-567)agG>agA	p.R189R	RGS6_ENST00000553525.1_Silent_p.R189R|RGS6_ENST00000402788.2_Silent_p.R189R|RGS6_ENST00000556437.1_Silent_p.R189R|RGS6_ENST00000406236.4_Silent_p.R189R|RGS6_ENST00000434263.2_Silent_p.R120R|RGS6_ENST00000343854.6_Silent_p.R189R|RGS6_ENST00000555571.1_Silent_p.R189R|RGS6_ENST00000407322.4_Silent_p.R189R|RGS6_ENST00000355512.6_Silent_p.R189R|RGS6_ENST00000554782.1_Silent_p.R50R|RGS6_ENST00000404301.2_Silent_p.R189R|RGS6_ENST00000553690.1_3'UTR	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	189					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AGACAGAAAGGAAAATTTTGG	0.398000													39	111					0	0	0.003610	0	0
TRPC4	7223	broad.mit.edu	37	13	38320170	38320170	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:38320170G>A	ENST00000379705.3	-	3	1658	c.801C>T	c.(799-801)atC>atT	p.I267I	TRPC4_ENST00000379681.3_Silent_p.I267I|TRPC4_ENST00000379673.2_Silent_p.I267I|TRPC4_ENST00000355779.2_Silent_p.I267I|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000358477.2_Silent_p.I267I|TRPC4_ENST00000426868.2_Silent_p.I267I|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000447043.1_Silent_p.I267I			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	267	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AATTAAGAATGATTTCCAGTT	0.393000													14	104					0	0	0.001855	0	0
SLC18A1	6570	broad.mit.edu	37	8	20022595	20022595	+	Silent	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:20022595A>G	ENST00000440926.1	-	10	1352	c.882T>C	c.(880-882)ttT>ttC	p.F294F	SLC18A1_ENST00000381608.4_Silent_p.F294F|SLC18A1_ENST00000276373.5_Silent_p.F294F|SLC18A1_ENST00000519026.1_Silent_p.F294F|SLC18A1_ENST00000437980.1_Silent_p.F294F|SLC18A1_ENST00000265808.7_Silent_p.F294F	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	294					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		TGAGAAGCATAAAGAGGGGAG	0.498000													9	51					0	0	0.006214	0	0
BTN3A1	11119	broad.mit.edu	37	6	26405780	26405780	+	Translation_Start_Site	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:26405780T>G	ENST00000289361.6	+	0	357				BTN3A1_ENST00000425234.2_De_novo_Start_OutOfFrame|BTN3A1_ENST00000414912.2_De_novo_Start_OutOfFrame|BTN3A1_ENST00000476549.2_De_novo_Start_OutOfFrame	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1						lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TATCTCCTGATATGCAGCATG	0.478000													4	46					0	0	0.001168	0	0
PRKACG	5568	broad.mit.edu	37	9	71628097	71628097	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:71628097G>A	ENST00000377276.2	-	1	942	c.912C>T	c.(910-912)atC>atT	p.I304I		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	304	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CATAGATGGCGATCCAGCTGG	0.572000													13	50					0	0	0.001368	0	0
MGAT4A	11320	broad.mit.edu	37	2	99256428	99256428	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:99256428G>A	ENST00000393487.1	-	12	1478	c.1165C>T	c.(1165-1167)Cat>Tat	p.H389Y	MGAT4A_ENST00000409391.1_Missense_Mutation_p.H389Y|MGAT4A_ENST00000414521.2_Missense_Mutation_p.H261Y|MGAT4A_ENST00000264968.2_Missense_Mutation_p.H389Y	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	389					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						GGGTTTACATGGATTTTAAGA	0.368000													6	31					0	0	0.001168	0	0
DPT	1805	broad.mit.edu	37	1	168698112	168698112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:168698112C>T	ENST00000367817.3	-	1	390	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	101	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CCTTACCATTCCATGCCAGCC	0.582000													15	50					0	0	0.003163	0	0
BACH1	571	broad.mit.edu	37	21	30698863	30698863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:30698863C>T	ENST00000399921.1	+	3	961	c.718C>T	c.(718-720)Cgt>Tgt	p.R240C	BACH1_ENST00000286800.3_Missense_Mutation_p.R240C	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	240						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TGACAGAGTCCGTACTGGGGA	0.443000													10	42					0	0	0.006214	0	0
ESRRB	2103	broad.mit.edu	37	14	76965182	76965182	+	Silent	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:76965182T>A	ENST00000261532.7	+	8	1482	c.1410T>A	c.(1408-1410)ccT>ccA	p.P470P	ESRRB_ENST00000380887.2_Intron|ESRRB_ENST00000509242.1_Intron|RP11-187O7.3_ENST00000554926.1_lincRNA			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCTTGCCCCCTCCCCCATCTG	0.602000													6	37					0	0	0.003080	0	0
LAMP3	27074	broad.mit.edu	37	3	182871915	182871915	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:182871915A>C	ENST00000265598.3	-	2	569	c.314T>G	c.(313-315)gTc>gGc	p.V105G	LAMP3_ENST00000466939.1_Missense_Mutation_p.V81G	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	105	Thr-rich.				cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CTGGGTTGTGACCAGGGTGTA	0.507000													4	52					0	0	0.000248	0	0
PTPRB	5787	broad.mit.edu	37	12	70975044	70975044	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:70975044C>T	ENST00000334414.6	-	10	2394	c.2350G>A	c.(2350-2352)Gga>Aga	p.G784R	PTPRB_ENST00000550857.1_Missense_Mutation_p.G476R|PTPRB_ENST00000551525.1_Missense_Mutation_p.G783R|PTPRB_ENST00000550358.1_Missense_Mutation_p.G784R|PTPRB_ENST00000538708.1_Missense_Mutation_p.G566R|PTPRB_ENST00000451516.2_Missense_Mutation_p.G476R|PTPRB_ENST00000261266.5_Missense_Mutation_p.G566R	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	566	Fibronectin type-III 9.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTGGTCATTCCTTGGTTGGCC	0.398000													5	38					0	0	0.000602	0	0
CHD2	1106	broad.mit.edu	37	15	93482839	93482839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:93482839C>T	ENST00000394196.4	+	7	1651	c.583C>T	c.(583-585)Ccg>Tcg	p.P195S	CHD2_ENST00000536619.1_Missense_Mutation_p.P208S|CHD2_ENST00000557381.1_Missense_Mutation_p.P195S|CHD2_ENST00000420239.2_Missense_Mutation_p.P195S	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	195					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TAAAAAGCAGCCGAAGACTCA	0.413000													14	78					0	0	0.004007	0	0
IGHV3-73	28409	broad.mit.edu	37	14	107210977	107210977	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:107210977C>T	ENST00000390636.2	-	0	391																											TCAGGCTGTTCATTTGCAGAT	0.532000													6	53					0	0	0.001984	0	0
RAMP3	10268	broad.mit.edu	37	7	45222924	45222924	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:45222924C>T	ENST00000242249.4	+	3	398	c.360C>T	c.(358-360)atC>atT	p.I120I	RAMP3_ENST00000481345.1_Silent_p.I120I|RAMP3_ENST00000496212.1_Silent_p.I120I	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	120					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	AGGTTCTCATCCCGCTGATCG	0.632000													6	125					0	0	0.001984	0	0
SYCP2L	221711	broad.mit.edu	37	6	10926589	10926589	+	Silent	SNP	G	G	A	rs147164289		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:10926589G>A	ENST00000283141.6	+	16	1532	c.1236G>A	c.(1234-1236)acG>acA	p.T412T	SYCP2L_ENST00000543878.1_Silent_p.T253T|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	412						nucleus		p.T412T(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CTGACCAGACGAAAATCTCCT	0.348000													35	132					0	0	0.002222	0	0
SP140	11262	broad.mit.edu	37	2	231177307	231177307	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:231177307G>A	ENST00000392045.3	+	27	2626	c.2512G>A	c.(2512-2514)Gat>Aat	p.D838N	SP140_ENST00000350136.5_Missense_Mutation_p.D707N|SP140_ENST00000343805.6_Missense_Mutation_p.D778N|SP140_ENST00000417495.3_Missense_Mutation_p.D724N|SP140_ENST00000420434.3_Missense_Mutation_p.D811N|SP140_ENST00000486687.2_Intron	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	838				D -> G (in Ref. 1; AAB18617).	defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCAGTACAAGGATTTTGGCCA	0.363000													10	47					0	0	0.008291	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42298262	42298262	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:42298262G>A	ENST00000399518.3	-	4	937	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L	PLA2G4E_ENST00000413860.2_Silent_p.L122L	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	133					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AGAACTGTCAGGAGATGGTCA	0.522000													6	54					0	0	0.001168	0	0
PLXNC1	10154	broad.mit.edu	37	12	94673247	94673247	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:94673247G>A	ENST00000258526.4	+	22	3846		c.e22-1		PLXNC1_ENST00000547057.1_Splice_Site|RP11-1105G2.3_ENST00000551941.1_Intron|PLXNC1_ENST00000545312.1_Splice_Site	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1						axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TACTCTTGCAGGCATTAAACG	0.408000													4	24					0	0	0.000248	0	0
MAST1	22983	broad.mit.edu	37	19	12976231	12976231	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:12976231C>T	ENST00000251472.4	+	15	1779	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	580	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCTACGAGTTCCTGGTGGGCT	0.592000													19	71					0	0	0.007413	0	0
PCK1	5105	broad.mit.edu	37	20	56137864	56137864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:56137864G>A	ENST00000319441.4	+	4	683	c.519G>A	c.(517-519)atG>atA	p.M173I	PCK1_ENST00000535860.1_Missense_Mutation_p.M41I|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	173					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TGCGGATCATGACGCGGATGG	0.587000													5	26					0	0	0.001984	0	0
ZNF536	9745	broad.mit.edu	37	19	31038970	31038970	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:31038970A>G	ENST00000355537.3	+	4	2591	c.2444A>G	c.(2443-2445)cAa>cGa	p.Q815R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	815					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTGTCTGGGCAACCCCCAAAT	0.572000													9	84					0	0	0.006214	0	0
CHST15	51363	broad.mit.edu	37	10	125805347	125805347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:125805347G>A	ENST00000346248.5	-	2	1024	c.382C>T	c.(382-384)Cca>Tca	p.P128S	CHST15_ENST00000421115.1_Missense_Mutation_p.P128S|CHST15_ENST00000435907.1_Missense_Mutation_p.P128S	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	128					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GTGTCACTTGGGTTTTCGCTG	0.438000													12	132					0	0	0.002450	0	0
DUSP27	92235	broad.mit.edu	37	1	167095239	167095239	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:167095239G>A	ENST00000361200.2	+	6	1037	c.871G>A	c.(871-873)Gga>Aga	p.G291R	DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Missense_Mutation_p.G291R|DUSP27_ENST00000271385.5_Missense_Mutation_p.G291R			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	291					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCGGGAGGGGGGATCAGCTGA	0.637000													4	26					0	0	0.000602	0	0
MDGA1	266727	broad.mit.edu	37	6	37622271	37622271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:37622271G>A	ENST00000434837.2	-	6	1939	c.761C>T	c.(760-762)cCt>cTt	p.P254L	MDGA1_ENST00000505425.1_Missense_Mutation_p.P254L|MDGA1_ENST00000297153.7_Missense_Mutation_p.P254L	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	254	Ig-like 3.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ATTCTCCCCAGGGTTCACCAC	0.627000													25	77					0	0	0.003954	0	0
OR10G2	26534	broad.mit.edu	37	14	22102706	22102706	+	Missense_Mutation	SNP	G	G	A	rs112202933	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:22102706G>A	ENST00000542433.1	-	1	390	c.293C>T	c.(292-294)cCg>cTg	p.P98L		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GCCACCAAACGGGATAGCCTT	0.493000													6	38					0	0	0.001984	0	0
SCN3B	55800	broad.mit.edu	37	11	123516315	123516315	+	Missense_Mutation	SNP	C	C	T	rs140381249		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:123516315C>T	ENST00000392770.2	-	2	1001	c.199G>A	c.(199-201)Gag>Aag	p.E67K	SCN3B_ENST00000530277.1_Missense_Mutation_p.E67K|SCN3B_ENST00000299333.3_Missense_Mutation_p.E67K	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	67	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		TTACCGCCCTCGGGCCTGTAG	0.597000													18	70					0	0	0.007413	0	0
OR10X1	128367	broad.mit.edu	37	1	158549373	158549373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158549373C>T	ENST00000368150.1	-	1	316	c.317G>A	c.(316-318)aGa>aAa	p.R106K		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TGAAATGCTTCTGTCCTTGGC	0.478000													7	67					0	0	0.001984	0	0
C14orf39	317761	broad.mit.edu	37	14	60903741	60903741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:60903741C>T	ENST00000321731.3	-	18	1745	c.1586G>A	c.(1585-1587)gGa>gAa	p.G529E		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	529										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		GCCATCTTCTCCTTCTGGCTT	0.313000													17	103					0	0	0.007413	0	0
CERCAM	51148	broad.mit.edu	37	9	131186488	131186488	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:131186488G>A	ENST00000372842.1	+	5	3408	c.264G>A	c.(262-264)gtG>gtA	p.V88V	CERCAM_ENST00000372838.4_Silent_p.V166V			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	166					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GGCTTCCAGTGGTGGCCCCAA	0.597000													11	103					0	0	0.001368	0	0
MIER2	54531	broad.mit.edu	37	19	313632	313632	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:313632C>T	ENST00000264819.4	-	8	677	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	223	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGGTCTTCGTTCTCGTAG	0.622000													10	42					0	0	0.000978	0	0
MKLN1	4289	broad.mit.edu	37	7	131060248	131060248	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:131060248C>T	ENST00000352689.6	+	2	204	c.164C>T	c.(163-165)cCc>cTc	p.P55L	MKLN1_ENST00000429546.1_5'UTR|MKLN1_ENST00000421797.2_5'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	55					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					AACTATCCTCCCCAGGTAAGA	0.323000													10	54					0	0	0.000978	0	0
IL27RA	9466	broad.mit.edu	37	19	14162442	14162442	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:14162442C>T	ENST00000263379.2	+	12	1677	c.1552C>T	c.(1552-1554)Ctg>Ttg	p.L518L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	518					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GTGGAAAGTTCTGCCGGGCAT	0.443000													4	44					0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9057542	9057542	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:9057542C>T	ENST00000397910.4	-	3	30107	c.29904G>A	c.(29902-29904)caG>caA	p.Q9968Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9970	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAAGAGTACTCTGTGCTGTAG	0.468000													27	200					0	0	0.002096	0	0
TRAV8-2	28684	broad.mit.edu	37	14	22315312	22315312	+	RNA	SNP	G	G	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:22315312G>T	ENST00000390434.3	+	0	475																											CGGTTTTGAGGCTGAATTTAA	0.502000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	65					5.26018e-13	5.97487e-13	0.001882	1	0
OTOP3	347741	broad.mit.edu	37	17	72945374	72945374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:72945374G>A	ENST00000328801.4	+	7	1654	c.1654G>A	c.(1654-1656)Gag>Aag	p.E552K		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	552						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CATACACCCGGAGTTTGAGAA	0.557000													11	76					0	0	0.000978	0	0
GML	2765	broad.mit.edu	37	8	143927822	143927822	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:143927822C>T	ENST00000220940.1	+	4	283	c.193C>T	c.(193-195)Cgt>Tgt	p.R65C		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	65	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		p.R65C(1)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CATAAATTCTCGTGAACTACT	0.343000													4	32					0	0	0.000248	0	0
RELB	5971	broad.mit.edu	37	19	45506214	45506214	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:45506214C>T	ENST00000221452.8	+	2	264	c.114C>T	c.(112-114)ccC>ccT	p.P38P	RELB_ENST00000540120.1_Silent_p.P38P|RELB_ENST00000505236.1_Silent_p.P38P	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	38						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CAGGGTCCCCCGACCTCTCCT	0.612000													25	74					0	0	0.005443	0	0
ITGA3	3675	broad.mit.edu	37	17	48148254	48148254	+	Silent	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:48148254T>C	ENST00000320031.8	+	5	1041	c.711T>C	c.(709-711)taT>taC	p.Y237Y	ITGA3_ENST00000007722.7_Silent_p.Y237Y|ITGA3_ENST00000544892.1_Silent_p.Y12Y	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	237					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TATCTGAGTATAGTTACAAGG	0.502000													23	228					0	0	0.003954	0	0
SCN10A	6336	broad.mit.edu	37	3	38768112	38768112	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:38768112C>T	ENST00000449082.2	-	16	3071	c.3072G>A	c.(3070-3072)gtG>gtA	p.V1024V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1024					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTTTGGGGATCACTTCCTGCT	0.542000													4	30					0	0	0.000602	0	0
OR8J1	219477	broad.mit.edu	37	11	56128604	56128604	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:56128604G>A	ENST00000303039.3	+	1	914	c.882G>A	c.(880-882)agG>agA	p.R294R		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ACAGCCTGAGGAATAAGGATG	0.393000													6	42					0	0	0.001168	0	0
FLNC	2318	broad.mit.edu	37	7	128484142	128484142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:128484142C>T	ENST00000325888.8	+	20	3275	c.3014C>T	c.(3013-3015)tCg>tTg	p.S1005L	FLNC_ENST00000346177.6_Missense_Mutation_p.S1005L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1005					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.S1005L(2)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGGATGACTTCGCCCTCTCGC	0.662000													4	37					0	0	0.000602	0	0
DOCK3	1795	broad.mit.edu	37	3	51274929	51274929	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:51274929C>T	ENST00000266037.9	+	21	2033	c.2010C>T	c.(2008-2010)atC>atT	p.I670I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	670						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGGTGTTCATCATCAACCTGC	0.473000													5	21					0	0	0.001168	0	0
TMEM196	256130	broad.mit.edu	37	7	19765251	19765251	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:19765251G>A	ENST00000405844.1	-	3	1040	c.345C>T	c.(343-345)atC>atT	p.I115I	TMEM196_ENST00000433641.1_Silent_p.I47I|TMEM196_ENST00000422233.1_Silent_p.I47I|TMEM196_ENST00000405764.3_Silent_p.I115I|TMEM196_ENST00000493519.1_Silent_p.I47I			Q5HYL7	TM196_HUMAN	transmembrane protein 196	121						integral to membrane		p.I115I(1)|p.I47I(1)		breast(1)|large_intestine(1)|lung(4)	6						TGCAGCCCCCGATCCCAATGC	0.532000													10	44					0	0	0.000978	0	0
CEP192	55125	broad.mit.edu	37	18	13055828	13055828	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:13055828C>T	ENST00000506447.1	+	19	3319	c.3239C>T	c.(3238-3240)gCc>gTc	p.A1080V	CEP192_ENST00000430049.2_Missense_Mutation_p.A605V|CEP192_ENST00000325971.8_Missense_Mutation_p.A484V	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	675										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCAGTCCAGCCGCATTGGAG	0.353000													7	35					0	0	0.004482	0	0
KRT12	3859	broad.mit.edu	37	17	39019844	39019844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:39019844C>T	ENST00000251643.4	-	5	1011	c.988G>A	c.(988-990)Gag>Aag	p.E330K		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	330	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				GTGCTAATCTCCTTACGGAGC	0.577000													4	28					0	0	0.000602	0	0
KRT71	112802	broad.mit.edu	37	12	52943997	52943997	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:52943997G>A	ENST00000267119.5	-	2	541	c.472C>T	c.(472-474)Ctg>Ttg	p.L158L		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	158	Coil 1A.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TTGGTCTCCAGTACCTGGTTC	0.562000													11	52					0	0	0.000978	0	0
PLK3	1263	broad.mit.edu	37	1	45267365	45267365	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:45267365C>T	ENST00000372201.4	+	4	746	c.507C>T	c.(505-507)atC>atT	p.I169I	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	169	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TGCGGCAGATCCTTTCTGGCC	0.632000													6	63					0	0	0.001168	0	0
ECM1	1893	broad.mit.edu	37	1	150483433	150483433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:150483433C>T	ENST00000369047.4	+	6	592	c.467C>T	c.(466-468)tCc>tTc	p.S156F	ECM1_ENST00000369049.4_Missense_Mutation_p.S183F|ECM1_ENST00000346569.6_Missense_Mutation_p.S156F|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	156	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CAGGACCGGTCCCAAGGGGGC	0.602000													17	138					0	0	0.004007	0	0
SNORA71B	26776	broad.mit.edu	37	20	37053978	37053978	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:37053978G>A	ENST00000364546.1	-	0	1																											TCGAATACAGGGACAAAATAG	0.512000													9	50					0	0	0.000978	0	0
RFX6	222546	broad.mit.edu	37	6	117250065	117250065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:117250065G>A	ENST00000332958.2	+	18	2558	c.2542G>A	c.(2542-2544)Ggt>Agt	p.G848S		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	848					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AGATGACAGTGGTAGAAAACA	0.433000													9	54					0	0	0.006214	0	0
HTR5A	3361	broad.mit.edu	37	7	154875961	154875961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:154875961G>A	ENST00000287907.2	+	2	1414	c.838G>A	c.(838-840)Gag>Aag	p.E280K	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	280						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GGAGCAGAAGGAGCAGCGGGC	0.627000													14	34					0	0	0.001855	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900452	151900452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:151900452C>T	ENST00000393900.3	-	3	702	c.349G>A	c.(349-351)Gtt>Att	p.V117I	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.V117I|MAGEA12_ENST00000357916.4_Missense_Mutation_p.V117I	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	117	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAAATGAACCAACTCAGCC	0.507000													16	32					0	0	0.004007	0	0
LRTM1	57408	broad.mit.edu	37	3	54959050	54959050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:54959050G>A	ENST00000273286.5	-	2	362	c.200C>T	c.(199-201)gCt>gTt	p.A67V	LRTM1_ENST00000493075.1_5'UTR|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	67						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AAATGCAAAAGCAGGAAGATG	0.488000													4	26					0	0	0.000248	0	0
ALMS1	7840	broad.mit.edu	37	2	73678216	73678216	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:73678216C>T	ENST00000264448.6	+	8	4670	c.4559C>T	c.(4558-4560)cCt>cTt	p.P1520L	ALMS1_ENST00000409009.1_Missense_Mutation_p.P1478L|ALMS1_ENST00000377715.1_Missense_Mutation_p.P1520L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1520	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATAACCTCTCCTTCCTACTCA	0.488000													9	94					0	0	0.001368	0	0
BTG3	10950	broad.mit.edu	37	21	18966470	18966470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:18966470G>A	ENST00000339775.6	-	6	985	c.832C>T	c.(832-834)Cct>Tct	p.P278S	BTG3_ENST00000348354.6_Missense_Mutation_p.P234S	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN	BTG family, member 3	234					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TGCATTCCAGGAGGAGGTACC	0.423000													8	38					0	0	0.003080	0	0
ABCB4	5244	broad.mit.edu	37	7	87101970	87101970	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:87101970C>T	ENST00000265723.4	-	3	213	c.102G>A	c.(100-102)acG>acA	p.T34T	ABCB4_ENST00000359206.3_Silent_p.T34T|ABCB4_ENST00000545634.1_Silent_p.T34T|ABCB4_ENST00000453593.1_Silent_p.T34T|ABCB4_ENST00000358400.3_Silent_p.T34T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	34					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TCACTGTCTTCGTTTTTTTCC	0.249000													8	50					0	0	0.003080	0	0
CLCNKB	1188	broad.mit.edu	37	1	16373114	16373114	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:16373114C>T	ENST00000375679.4	+	4	425	c.314C>T	c.(313-315)tCt>tTt	p.S105F		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb									p.S105F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCTCGTCTCTTTCTCTTCA	0.602000													8	32					0	0	0.004482	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141184	143141184	+	Missense_Mutation	SNP	G	G	A	rs141559059		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:143141184G>A	ENST00000332690.1	+	1	639	c.639G>A	c.(637-639)atG>atA	p.M213I	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	213					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.M213I(2)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCATTTGCATGATTTTGCTCA	0.463000													12	100					0	0	0.001855	0	0
PAPPA2	60676	broad.mit.edu	37	1	176734809	176734809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:176734809C>T	ENST00000367662.3	+	15	5323	c.4159C>T	c.(4159-4161)Cat>Tat	p.H1387Y		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1387					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGCTGTATCCATCGGCCCTG	0.507000													10	129					0	0	0.003163	0	0
MECOM	2122	broad.mit.edu	37	3	168834404	168834404	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:168834404G>A	ENST00000464456.1	-	7	1892	c.692C>T	c.(691-693)tCc>tTc	p.S231F	MECOM_ENST00000494292.1_Missense_Mutation_p.S419F|MECOM_ENST00000264674.3_Missense_Mutation_p.S296F|MECOM_ENST00000472280.1_Missense_Mutation_p.S232F|MECOM_ENST00000468789.1_Missense_Mutation_p.S231F|MECOM_ENST00000460814.1_Missense_Mutation_p.S231F|MECOM_ENST00000392736.3_Missense_Mutation_p.S231F|MECOM_ENST00000433243.2_Missense_Mutation_p.S232F	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTTATTTAAGGAAGACGTAGT	0.453000													9	65					0	0	0.000978	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64594785	64594785	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:64594785G>A	ENST00000342711.5	-	33	4235	c.4236C>T	c.(4234-4236)ttC>ttT	p.F1412F		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1412					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CCGACACGCGGAAAAAGAAGC	0.667000													5	48					0	0	0.000602	0	0
SYBU	55638	broad.mit.edu	37	8	110587270	110587270	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:110587270G>A	ENST00000399066.3	-	6	2575	c.1848C>T	c.(1846-1848)gtC>gtT	p.V616V	SYBU_ENST00000276646.9_Silent_p.V619V|SYBU_ENST00000532779.1_Silent_p.V551V|SYBU_ENST00000433638.1_Silent_p.V619V|SYBU_ENST00000446070.2_Silent_p.V618V|SYBU_ENST00000529175.1_Silent_p.V413V|SYBU_ENST00000528331.1_Silent_p.V500V|SYBU_ENST00000528647.1_Silent_p.V618V|SYBU_ENST00000419099.1_Silent_p.V618V|SYBU_ENST00000422135.1_Silent_p.V619V|SYBU_ENST00000408908.2_Silent_p.V619V|SYBU_ENST00000440310.1_Silent_p.V619V|SYBU_ENST00000424158.2_Silent_p.V624V|SYBU_ENST00000533171.1_Silent_p.V619V|SYBU_ENST00000408889.3_Silent_p.V500V|SYBU_ENST00000533895.1_Silent_p.V618V|SYBU_ENST00000533065.1_Silent_p.V500V|SYBU_ENST00000529690.1_Silent_p.V489V	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	619						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GAACCGTGGGGACCACGGGGG	0.622000													13	57					0	0	0.004007	0	0
F13B	2165	broad.mit.edu	37	1	197009662	197009662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:197009662G>A	ENST00000367412.1	-	11	1985	c.1942C>T	c.(1942-1944)Cca>Tca	p.P648S	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	648					blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTTTGTCTTGGAATACATCTT	0.299000													5	43					0	0	0.001984	0	0
CUX2	23316	broad.mit.edu	37	12	111786100	111786100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:111786100C>T	ENST00000261726.6	+	22	4586	c.4432C>T	c.(4432-4434)Cgg>Tgg	p.R1478W		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1478						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGCTGCCAATCGGGAGGAGGC	0.572000													8	60					0	0	0.006214	0	0
FLNC	2318	broad.mit.edu	37	7	128488727	128488727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:128488727G>A	ENST00000325888.8	+	27	4954	c.4693G>A	c.(4693-4695)Gac>Aac	p.D1565N	FLNC_ENST00000346177.6_Missense_Mutation_p.D1565N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1565					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTTCACCATCGACGCACGGGA	0.662000													14	101					0	0	0.004007	0	0
PTPRB	5787	broad.mit.edu	37	12	70954521	70954521	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:70954521C>T	ENST00000334414.6	-	17	4406	c.4362G>A	c.(4360-4362)agG>agA	p.R1454R	PTPRB_ENST00000550857.1_Silent_p.R1146R|PTPRB_ENST00000551525.1_Silent_p.R1453R|PTPRB_ENST00000550358.1_Silent_p.R1366R|PTPRB_ENST00000538708.1_Silent_p.R1146R|PTPRB_ENST00000451516.2_Silent_p.R1146R|PTPRB_ENST00000261266.5_Silent_p.R1236R	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1236	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GCACGTACTTCCTTCCAGGAA	0.502000													4	29					0	0	0.000248	0	0
ACOT2	10965	broad.mit.edu	37	14	74036061	74036061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:74036061G>A	ENST00000538782.1	+	2	590	c.13G>A	c.(13-15)Gag>Aag	p.E5K	ACOT2_ENST00000238651.5_Silent_p.K39K			P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	202					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GGAGCCTGAAGAGTTCGGCGC	0.582000													15	89					0	0	0.003163	0	0
TLR3	7098	broad.mit.edu	37	4	187004511	187004511	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:187004511C>T	ENST00000296795.2	+	4	1775	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F	TLR3_ENST00000504367.1_Silent_p.F280F	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	557					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CCATTTATTTCCTAAAGGGTC	0.443000													16	41					0	0	0.004007	0	0
YBX1	4904	broad.mit.edu	37	1	43162381	43162381	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:43162381C>T	ENST00000321358.7	+	5	562	c.423C>T	c.(421-423)gaC>gaT	p.D141D	YBX1_ENST00000467957.1_3'UTR	NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	141					CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGCAGCAGACCGTAACCATT	0.473000													7	76					0	0	0.006214	0	0
PSKH2	85481	broad.mit.edu	37	8	87076634	87076634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:87076634C>T	ENST00000276616.2	-	2	486	c.412G>A	c.(412-414)Gag>Aag	p.E138K	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	138	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GTAGCCAGCTCCATTACCATG	0.537000													6	47					0	0	0.001168	0	0
TTC17	55761	broad.mit.edu	37	11	43465731	43465731	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:43465731C>T	ENST00000039989.4	+	18	2651	c.2637C>T	c.(2635-2637)ggC>ggT	p.G879G	TTC17_ENST00000299240.6_Silent_p.G936G|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	879							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AGATCACTGGCCCCAAGGTGG	0.398000													5	28					0	0	0.001168	0	0
TRPC7	57113	broad.mit.edu	37	5	135692539	135692539	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:135692539G>A	ENST00000513104.1	-	2	819	c.537C>T	c.(535-537)atC>atT	p.I179I	TRPC7_ENST00000355180.3_Silent_p.I179I|TRPC7_ENST00000426057.2_Silent_p.I179I	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	179					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGATGTGCACGATCTCATACT	0.607000													6	100					0	0	0.004482	0	0
MYH9	4627	broad.mit.edu	37	22	36710238	36710238	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:36710238G>A	ENST00000216181.5	-	13	1736	c.1506C>T	c.(1504-1506)atC>atT	p.I502I		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	502	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGCCAAAGTCGATGAAGTTCC	0.547000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				8	44					0	0	0.003080	0	0
HIF1AN	55662	broad.mit.edu	37	10	102304788	102304788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:102304788C>T	ENST00000299163.5	+	4	758	c.658C>T	c.(658-660)Cct>Tct	p.P220S		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	220	Interaction with HIF1A.|Interaction with VHL.|JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		CATCTTATTCCCTCCGGATCA	0.458000													5	55					0	0	0.000602	0	0
ZNF483	158399	broad.mit.edu	37	9	114296571	114296571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:114296571C>T	ENST00000309235.5	+	5	817	c.659C>T	c.(658-660)tCc>tTc	p.S220F	ZNF483_ENST00000358151.4_Missense_Mutation_p.S220F|ZNF483_ENST00000355824.3_Missense_Mutation_p.S220F	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	220	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GAGTTGATTTCCCAGCTAAAG	0.383000													12	87					0	0	0.003163	0	0
KIR2DL3	3804	broad.mit.edu	37	19	55263938	55263938	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55263938C>T	ENST00000342376.3	+	8	1024	c.993C>T	c.(991-993)atC>atT	p.I331I	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3											breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CAGATATCATCGTGTACACGG	0.507000													67	166					0	0	0.003610	0	0
EGF	1950	broad.mit.edu	37	4	110909851	110909851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:110909851G>A	ENST00000265171.5	+	18	3165	c.2720G>A	c.(2719-2721)gGg>gAg	p.G907E	EGF_ENST00000503392.1_Missense_Mutation_p.G907E|EGF_ENST00000509793.1_Missense_Mutation_p.G865E	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	907	EGF-like 7; calcium-binding (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CAAGGAGATGGGATTCACTGT	0.567000													8	73					0	0	0.006214	0	0
NR6A1	2649	broad.mit.edu	37	9	127289121	127289121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:127289121G>A	ENST00000487099.2	-	8	1295	c.1138C>T	c.(1138-1140)Cat>Tat	p.H380Y	NR6A1_ENST00000373584.3_Missense_Mutation_p.H376Y|NR6A1_ENST00000416460.2_Missense_Mutation_p.H375Y|NR6A1_ENST00000344523.4_Missense_Mutation_p.H379Y	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	380					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						TTTAGCTGATGGAACTTGTGA	0.478000													22	61					0	0	0.003330	0	0
NID1	4811	broad.mit.edu	37	1	236143940	236143940	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:236143940T>A	ENST00000264187.6	-	17	3323	c.3241A>T	c.(3241-3243)Aca>Tca	p.T1081S	NID1_ENST00000366595.3_Missense_Mutation_p.T948S	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1081					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TTCCAGTCTGTCCAGTAAAGG	0.443000													6	36					0	0	0.001168	0	0
LRFN1	57622	broad.mit.edu	37	19	39804579	39804579	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:39804579G>A	ENST00000248668.4	-	1	1397	c.1398C>T	c.(1396-1398)ctC>ctT	p.L466L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	466	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			ACCTGTAGACGAGGGAGTCAT	0.632000													7	16					0	0	0.004482	0	0
ZFAND3	60685	broad.mit.edu	37	6	38029439	38029439	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:38029439C>T	ENST00000287218.4	+	3	630	c.183C>T	c.(181-183)tcC>tcT	p.S61S	ZFAND3_ENST00000373391.2_Silent_p.S61S	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	61							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						ATTTGTTTTCCGAAGAGACCA	0.433000													6	46					0	0	0.001168	0	0
ADCY8	114	broad.mit.edu	37	8	131922025	131922025	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:131922025C>T	ENST00000286355.5	-	6	3661	c.1569G>A	c.(1567-1569)agG>agA	p.R523R	ADCY8_ENST00000377928.3_Silent_p.R523R	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	523					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACTGCCACTTCCTTAGTCCCA	0.478000										HNSCC(32;0.087)			19	136					0	0	0.008871	0	0
MAP3K10	4294	broad.mit.edu	37	19	40719487	40719487	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:40719487C>T	ENST00000253055.3	+	9	2189	c.1901C>T	c.(1900-1902)tCc>tTc	p.S634F		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	634					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TCGACCCCGTCCTACCTCTCA	0.746000													4	16					0	0	0.000248	0	0
PROZ	8858	broad.mit.edu	37	13	113826022	113826022	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:113826022G>A	ENST00000342783.4	+	9	879	c.872G>A	c.(871-873)tGg>tAg	p.W291*	PROZ_ENST00000375547.2_Nonsense_Mutation_p.W269*	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	269	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	GAGCTGGAGTGGCCCATCCAG	0.637000													7	58					0	0	0.006214	0	0
MC3R	4159	broad.mit.edu	37	20	54824538	54824538	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:54824538T>G	ENST00000243911.2	+	1	751	c.639T>G	c.(637-639)ttT>ttG	p.F213L		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	250					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TGTTCCTCTTTGCGCGGCTGC	0.572000													4	42					0	0	0.000248	0	0
DNAH9	1770	broad.mit.edu	37	17	11593689	11593689	+	Missense_Mutation	SNP	G	G	A	rs139715944		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:11593689G>A	ENST00000262442.3	+	20	4618	c.4550G>A	c.(4549-4551)cGa>cAa	p.R1517Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1517Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1517	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAGTGCAGCGAACATGGACT	0.483000													10	50					0	0	0.008291	0	0
DPEP3	64180	broad.mit.edu	37	16	68009905	68009905	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:68009905C>T	ENST00000268793.4	-	10	1679		c.e10-1			NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3						meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CCTCTCTCACCTGGGGGAGGA	0.597000													6	38					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179480053	179480053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179480053C>T	ENST00000589042.1	-	259	48843	c.48619G>A	c.(48619-48621)Gaa>Aaa	p.E16207K	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E7142K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E13639K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E7334K|TTN_ENST00000359218.5_Missense_Mutation_p.E7267K|TTN_ENST00000591111.1_Missense_Mutation_p.E14566K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14566	Fibronectin type-III 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAACAGGTTCTCCACAGGCA	0.383000													5	71					0	0	0.000602	0	0
MYH1	4619	broad.mit.edu	37	17	10399641	10399641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10399641C>T	ENST00000226207.5	-	34	4976	c.4882G>A	c.(4882-4884)Gaa>Aaa	p.E1628K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1628						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATTTCCATTTCATTGAGGTCT	0.498000													11	88					0	0	0.008291	0	0
OBSL1	23363	broad.mit.edu	37	2	220428326	220428326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:220428326G>A	ENST00000404537.1	-	7	2487	c.2431C>T	c.(2431-2433)Ccc>Tcc	p.P811S	OBSL1_ENST00000373876.1_Missense_Mutation_p.P811S|OBSL1_ENST00000373873.4_Missense_Mutation_p.P811S|OBSL1_ENST00000265318.4_Missense_Mutation_p.P811S|OBSL1_ENST00000603926.1_Missense_Mutation_p.P811S|OBSL1_ENST00000289656.3_Missense_Mutation_p.P398S	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	811	Ig-like 6.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGTTCTCGGGGGTCCACGATG	0.587000													6	52					0	0	0.003080	0	0
NETO2	81831	broad.mit.edu	37	16	47143563	47143563	+	Silent	SNP	G	G	A	rs139454743		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:47143563G>A	ENST00000562435.1	-	7	1098	c.714C>T	c.(712-714)ttC>ttT	p.F238F	NETO2_ENST00000303155.5_Silent_p.F231F	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	238	CUB 2.					integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				AGACTGCAACGAAGTTTCTCT	0.353000										HNSCC(25;0.065)			6	53					0	0	0.006214	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290960	141290960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:141290960C>T	ENST00000247452.3	-	3	1161	c.814G>A	c.(814-816)Gag>Aag	p.E272K		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	272	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GTGAGGAGCTCCCTAGGCTCC	0.542000										HNSCC(46;0.14)			14	33					0	0	0.001855	0	0
ENC1	8507	broad.mit.edu	37	5	73931360	73931360	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:73931360G>A	ENST00000302351.4	-	2	2081	c.951C>T	c.(949-951)gcC>gcT	p.A317A	ENC1_ENST00000537006.1_Silent_p.A317A|ENC1_ENST00000510316.1_Silent_p.A244A	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	317					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGATTTCTTTGGCCTTCTGGT	0.527000													21	52					0	0	0.001882	0	0
PGS1	9489	broad.mit.edu	37	17	76395592	76395592	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:76395592C>T	ENST00000262764.6	+	5	701	c.675C>T	c.(673-675)ctC>ctT	p.L225L	PGS1_ENST00000329897.7_Silent_p.L90L|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	225	PLD phosphodiesterase 1.				phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			AGGTGTACCTCTTCGACAACA	0.592000													6	37					0	0	0.006214	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713546	222713546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:222713546C>T	ENST00000343410.6	-	4	1314	c.1256G>A	c.(1255-1257)aGg>aAg	p.R419K		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	419					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCACATGTTCCTGATCCCATA	0.612000													48	503					0	0	0.003610	0	0
NR5A1	2516	broad.mit.edu	37	9	127262788	127262788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:127262788C>T	ENST00000373588.4	-	4	647	c.451G>A	c.(451-453)Ggc>Agc	p.G151S		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	151					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GCGGCCAGGCCCTTGGGCTCA	0.741000													3	12					0	0	0.000602	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871503	51871503	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:51871503G>A	ENST00000371497.5	+	2	2393	c.1506G>A	c.(1504-1506)agG>agA	p.R502R	TSHZ2_ENST00000603338.2_Silent_p.R499R|TSHZ2_ENST00000329613.6_Silent_p.R499R	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	502					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AATACCTAAGGGAGGAAGACT	0.448000													6	43					0	0	0.003080	0	0
CNGB3	54714	broad.mit.edu	37	8	87641295	87641295	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:87641295C>T	ENST00000320005.5	-	12	1379	c.1332G>A	c.(1330-1332)gtG>gtA	p.V444V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	444					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTGCTCCAATCACATCTCTCA	0.418000													50	122					0	0	0.003610	0	0
RAB19	401409	broad.mit.edu	37	7	140110793	140110793	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:140110793C>T	ENST00000275874.5	+	3	420	c.222C>T	c.(220-222)atC>atT	p.I74I	RAB19_ENST00000537763.1_Intron|RAB19_ENST00000356407.3_Intron			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	67					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					CCAGTATTATCACCTTTGCCA	0.453000													53	161					0	0	0.003610	0	0
CACNA1S	779	broad.mit.edu	37	1	201012616	201012616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:201012616C>T	ENST00000362061.3	-	40	5067	c.4841G>A	c.(4840-4842)aGg>aAg	p.R1614K	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R1595K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1614					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGAGTTGGTCCTTTCCAGGAA	0.592000											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	50					0	0	0.001984	0	0
NDUFA13	51079	broad.mit.edu	37	19	19627014	19627014	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:19627014C>T	ENST00000252576.5	+	1	216	c.216C>T	c.(214-216)ttC>ttT	p.F72F	NDUFA13_ENST00000507754.3_5'UTR	NM_015965.6	NP_057049.5			NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13									p.F72F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						TAAGTCACTTCCGCCCGGGAC	0.607000													6	29					0	0	0.001168	0	0
TREML3P	340206	broad.mit.edu	37	6	41185544	41185544	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:41185544G>A	ENST00000564680.1	-	0	141																											ATTGTGTAATGAGACTTCTGA	0.493000													11	28					0	0	0.001368	0	0
RER1	11079	broad.mit.edu	37	1	2330920	2330920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:2330920C>T	ENST00000605895.1	+	4	386	c.253C>T	c.(253-255)Ccc>Tcc	p.P85S	RER1_ENST00000378513.3_Intron|RER1_ENST00000378518.1_Intron|RER1_ENST00000488353.1_Missense_Mutation_p.P85S|RER1_ENST00000378512.1_Missense_Mutation_p.P85S	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	85					retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		TTTTCTTTCTCCCAAAGTGGA	0.488000													5	57					0	0	0.001984	0	0
ADH4	127	broad.mit.edu	37	4	100052836	100052836	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:100052836C>T	ENST00000508393.1	-	7	884	c.719G>A	c.(718-720)gGa>gAa	p.G240E	ADH4_ENST00000265512.7_Missense_Mutation_p.G221E|ADH4_ENST00000423445.1_Missense_Mutation_p.G240E|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.G240E			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	221					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	TCTGGAAGCTCCTGCTGCTTT	0.468000													4	44					0	0	0.000248	0	0
FBXW10	10517	broad.mit.edu	37	17	18675803	18675803	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:18675803G>A	ENST00000308799.4	+	11	2391	c.2172G>A	c.(2170-2172)acG>acA	p.T724T	FBXW10_ENST00000301938.4_Silent_p.T642T|FBXW10_ENST00000395667.1_Silent_p.T695T|FBXW10_ENST00000573605.1_3'UTR|FBXW10_ENST00000395665.4_Silent_p.T695T			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	695										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						Tggaaaaaacgaaacaaaaga	0.408000													21	107					0	0	0.001882	0	0
P2RX1	5023	broad.mit.edu	37	17	3802950	3802950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:3802950G>A	ENST00000225538.3	-	8	1127	c.853C>T	c.(853-855)Ctc>Ttc	p.L285F		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	285					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CCTGGGGAGAGATTTTTCTCT	0.552000													4	28					0	0	0.000248	0	0
ARMC4	55130	broad.mit.edu	37	10	28224025	28224025	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:28224025C>T	ENST00000305242.5	-	16	2501	c.2409G>A	c.(2407-2409)gtG>gtA	p.V803V	ARMC4_ENST00000545014.1_Silent_p.V328V|ARMC4_ENST00000537576.1_Silent_p.V495V	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	803							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CAAGGAGGTTCACAAGTGGTT	0.458000													20	75					0	0	0.002299	0	0
CFTR	1080	broad.mit.edu	37	7	117175424	117175424	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:117175424C>T	ENST00000003084.6	+	6	834	c.702C>T	c.(700-702)gcC>gcT	p.A234A	CFTR_ENST00000454343.1_Silent_p.A234A	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	234	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TAGTCCTTGCCCTTTTTCAGG	0.443000									Cystic Fibrosis				6	74					0	0	0.001984	0	0
CFH	3075	broad.mit.edu	37	1	196648818	196648818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:196648818G>A	ENST00000367429.4	+	6	925	c.685G>A	c.(685-687)Gag>Aag	p.E229K	CFH_ENST00000359637.2_Missense_Mutation_p.E165K|CFH_ENST00000439155.2_Missense_Mutation_p.E229K	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	229	Sushi 4.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TATTTATAAGGAGAATGAACG	0.333000													8	31					0	0	0.006214	0	0
ZNF160	90338	broad.mit.edu	37	19	53573069	53573069	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:53573069G>A	ENST00000601421.1	-	3	1486	c.610C>T	c.(610-612)Cat>Tat	p.H204Y	ZNF160_ENST00000429604.1_Missense_Mutation_p.H240Y|ZNF160_ENST00000599056.1_Missense_Mutation_p.H240Y|ZNF160_ENST00000418871.1_Missense_Mutation_p.H240Y			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	240					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H240N(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AATGAAAAATGGTTAAGTTCA	0.378000													26	53					0	0	0.004656	0	0
ATP2B2	491	broad.mit.edu	37	3	10391825	10391825	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:10391825G>A	ENST00000397077.1	-	15	2815	c.2240C>T	c.(2239-2241)tCc>tTc	p.S747F	ATP2B2_ENST00000343816.4_Missense_Mutation_p.S778F|ATP2B2_ENST00000360273.2_Missense_Mutation_p.S792F|ATP2B2_ENST00000383800.4_Missense_Mutation_p.S747F|ATP2B2_ENST00000352432.4_Missense_Mutation_p.S792F			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	792					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GTCCGTTGGGGAGGAGCGAGC	0.637000													4	33					0	0	0.001168	0	0
LILRB1	10859	broad.mit.edu	37	19	55144767	55144767	+	Missense_Mutation	SNP	C	C	T	rs148543880		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55144767C>T	ENST00000396331.1	+	8	1616	c.1259C>T	c.(1258-1260)tCa>tTa	p.S420L	LILRB1_ENST00000396327.3_Missense_Mutation_p.S420L|LILRB1_ENST00000396332.4_Missense_Mutation_p.S420L|LILRB1_ENST00000396317.1_Missense_Mutation_p.S420L|LILRB1_ENST00000448689.1_Missense_Mutation_p.S420L|LILRB1_ENST00000396321.2_Missense_Mutation_p.S420L|LILRB1_ENST00000418536.2_Missense_Mutation_p.S420L|LILRB1_ENST00000324602.7_Missense_Mutation_p.S420L|LILRB1_ENST00000462628.1_Intron|LILRB1_ENST00000396315.1_Missense_Mutation_p.S420L|LILRB1_ENST00000434867.2_Missense_Mutation_p.S420L|LILRB1_ENST00000427581.2_Missense_Mutation_p.S456L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	420					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.S420L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTCGTGGTCTCAGGTGGGGGC	0.637000										HNSCC(37;0.09)			16	40					0	0	0.006122	0	0
B4GALT2	8704	broad.mit.edu	37	1	44451237	44451237	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:44451237C>T	ENST00000356836.6	+	6	1702	c.912C>T	c.(910-912)ggC>ggT	p.G304G	B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000434555.2_Silent_p.G238G|B4GALT2_ENST00000372324.1_Silent_p.G304G|B4GALT2_ENST00000309519.7_Silent_p.G333G	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	304					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	TCCGAATCGGCCGCTACCGCA	0.587000													8	54					0	0	0.006214	0	0
BCAN	63827	broad.mit.edu	37	1	156622517	156622517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:156622517C>T	ENST00000329117.4	+	8	2111	c.1775C>T	c.(1774-1776)cCt>cTt	p.P592L	BCAN_ENST00000361588.5_Missense_Mutation_p.P592L|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	592					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAGGGTGCCCCTTCCCTGCTT	0.632000													7	29					0	0	0.003080	0	0
MYH2	4620	broad.mit.edu	37	17	10444001	10444001	+	Silent	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10444001A>T	ENST00000245503.5	-	11	1302	c.918T>A	c.(916-918)atT>atA	p.I306I	MYH2_ENST00000397183.2_Silent_p.I306I|MYH2_ENST00000532183.1_Silent_p.I306I|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	306	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGTTCGTGGTAATCAGAAGCA	0.378000													5	46					0	0	0.000602	0	0
ALPK2	115701	broad.mit.edu	37	18	56203775	56203775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:56203775G>A	ENST00000361673.3	-	5	3857	c.3644C>T	c.(3643-3645)tCt>tTt	p.S1215F	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1215							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AAGGATATCAGAGAGAGATGG	0.512000													12	92					0	0	0.000978	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710787	140710787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140710787C>T	ENST00000517417.1	+	1	536	c.536C>T	c.(535-537)tCc>tTc	p.S179F	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.S179F	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCATTTCTCCCTGGATGTG	0.527000													8	56					0	0	0.004482	0	0
PTPRF	5792	broad.mit.edu	37	1	44069127	44069127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:44069127C>T	ENST00000359947.4	+	15	2721	c.2381C>T	c.(2380-2382)tCc>tTc	p.S794F	PTPRF_ENST00000372413.3_Missense_Mutation_p.S785F|PTPRF_ENST00000372414.3_Missense_Mutation_p.S794F|PTPRF_ENST00000422171.2_Missense_Mutation_p.S142F|PTPRF_ENST00000438120.1_Missense_Mutation_p.S785F|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	794	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCACCTACTCCGTTACTGTT	0.582000													10	50					0	0	0.008291	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858592	9858592	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:9858592C>T	ENST00000396573.2	-	14	3118	c.2809G>A	c.(2809-2811)Gat>Aat	p.D937N	GRIN2A_ENST00000562109.1_Missense_Mutation_p.D937N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D937N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D937N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D937N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D780N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	937					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTCCCCTTATCTGAAACCATG	0.453000													16	116					0	0	0.004990	0	0
ALDOB	229	broad.mit.edu	37	9	104193085	104193085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:104193085C>T	ENST00000374855.4	-	2	209	c.85G>A	c.(85-87)Ggg>Agg	p.G29R	ALDOB_ENST00000468981.2_5'UTR	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	29					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GCCAGGATCCCCTTTCCATTG	0.443000													6	35					0	0	0.008291	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507480	74507480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:74507480G>A	ENST00000354431.4	-	7	1326	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P379S	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	379										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GGATATGCAGGAAAAAAATGT	0.353000													11	55					0	0	0.001855	0	0
SIX4	51804	broad.mit.edu	37	14	61180413	61180413	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:61180413C>T	ENST00000216513.4	-	3	2117	c.2058G>A	c.(2056-2058)ggG>ggA	p.G686G		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	686						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GAACTATTTCCCCAAGGGCAG	0.473000													6	35					0	0	0.001984	0	0
ANO2	57101	broad.mit.edu	37	12	5756932	5756932	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:5756932G>A	ENST00000356134.5	-	17	1655	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F	ANO2_ENST00000327087.8_Silent_p.F527F|ANO2_ENST00000546188.1_Silent_p.F528F|ANO2_ENST00000538154.1_5'UTR	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	532						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGTAACCTGGGAAACGATCCT	0.438000													3	16					0	0	0.000248	0	0
MMRN2	79812	broad.mit.edu	37	10	88703674	88703674	+	Silent	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:88703674A>G	ENST00000372027.4	-	6	940	c.867T>C	c.(865-867)ctT>ctC	p.L289L		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	289						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						ATTTGGCACCAAGCTCCTGGA	0.612000													10	28					0	0	0.006214	0	0
BRINP3	339479	broad.mit.edu	37	1	190067291	190067291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:190067291G>A	ENST00000367462.3	-	8	2389	c.2158C>T	c.(2158-2160)Cgt>Tgt	p.R720C	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R618C	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		720						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGATCTAGACGACGCTGACCA	0.478000													14	59					0	0	0.004007	0	0
CD8B	926	broad.mit.edu	37	2	87085197	87085197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:87085197C>T	ENST00000390655.6	-	2	444	c.386G>A	c.(385-387)gGa>gAa	p.G129E	CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Missense_Mutation_p.G129E|CD8B_ENST00000393761.2_Missense_Mutation_p.G129E|CD8B_ENST00000393759.2_Missense_Mutation_p.G129E|CD8B_ENST00000349455.3_Missense_Mutation_p.G129E	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	129	Ig-like V-type.				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CAGCTGAGTTCCCTTCCCGAA	0.572000													8	73					0	0	0.006214	0	0
ZNF667	63934	broad.mit.edu	37	19	56973722	56973722	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:56973722C>T	ENST00000591790.1	-	2	1446	c.18G>A	c.(16-18)ggG>ggA	p.G6G	ZNF667_ENST00000342634.3_Silent_p.G99G|ZNF667_ENST00000504904.3_Silent_p.G6G|ZNF667_ENST00000292069.6_Silent_p.G6G			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		ATTTGGATTTCCCCCGTGCAG	0.532000													25	93					0	0	0.004656	0	0
TMED2	10959	broad.mit.edu	37	12	124081261	124081261	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:124081261C>T	ENST00000262225.3	+	4	697	c.591C>T	c.(589-591)gtC>gtT	p.V197V	TMED2_ENST00000509052.2_Silent_p.V112V	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2	197					protein transport|vesicle-mediated transport	COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane	protein binding			kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		TTTTTGAAGTCCGGAGAGTTG	0.398000													9	48					0	0	0.006214	0	0
MUC4	4585	broad.mit.edu	37	3	195486082	195486082	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:195486082C>T	ENST00000463781.3	-	17	15358	c.14899G>A	c.(14899-14901)Ggg>Agg	p.G4967R	MUC4_ENST00000346145.4_Missense_Mutation_p.G731R|MUC4_ENST00000349607.4_Missense_Mutation_p.G680R|MUC4_ENST00000475231.1_Missense_Mutation_p.G4915R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1724					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGGTCTGCCCCTTGTAGGCT	0.537000													12	186					0	0	0.001368	0	0
DMRTA1	63951	broad.mit.edu	37	9	22451124	22451124	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:22451124C>T	ENST00000325870.1	+	2	954	c.729C>T	c.(727-729)tcC>tcT	p.S243S		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	243					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		TCTCCAAATCCCATCAGCTTT	0.398000													4	30					0	0	0.000602	0	0
HEPH	9843	broad.mit.edu	37	X	65480099	65480099	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:65480099G>A	ENST00000519389.1	+	19	3535	c.3356G>A	c.(3355-3357)cGa>cAa	p.R1119Q	HEPH_ENST00000336279.5_Missense_Mutation_p.R798Q|HEPH_ENST00000441993.2_Missense_Mutation_p.R1068Q|HEPH_ENST00000419594.1_Missense_Mutation_p.R876Q|HEPH_ENST00000374727.3_Missense_Mutation_p.R1068Q|HEPH_ENST00000343002.2_Missense_Mutation_p.R1065Q			Q9BQS7	HEPH_HUMAN	hephaestin	1065					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GTTTTTTCTCGAACAGGTAAG	0.473000													5	13					0	0	0.000602	0	0
ZNF418	147686	broad.mit.edu	37	19	58441905	58441905	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:58441905T>A	ENST00000396147.1	-	3	315	c.24A>T	c.(22-24)gaA>gaT	p.E8D	ZNF418_ENST00000600989.1_Missense_Mutation_p.E8D|ZNF418_ENST00000595830.1_Missense_Mutation_p.E8D|ZNF418_ENST00000425570.3_Missense_Mutation_p.E29D|ZNF418_ENST00000599852.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	8	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CAGCCACATCTTCAAATGCCA	0.507000													7	60					0	0	0.004482	0	0
OR6C70	390327	broad.mit.edu	37	12	55863266	55863266	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:55863266G>A	ENST00000327335.4	-	1	656	c.657C>T	c.(655-657)atC>atT	p.I219I	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TTGTCTTGATGATGTAAGAGT	0.373000													20	79					0	0	0.002780	0	0
VWA8	23078	broad.mit.edu	37	13	42295550	42295550	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:42295550G>A	ENST00000379310.3	-	25	2988	c.2920C>T	c.(2920-2922)Cct>Tct	p.P974S	VWA8_ENST00000281496.6_Missense_Mutation_p.P974S	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		GTAGAATAAGGATAGTTAATA	0.433000													6	116					0	0	0.001984	0	0
VPS13B	157680	broad.mit.edu	37	8	100403879	100403879	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:100403879C>T	ENST00000395996.1	+	21	3140	c.3029C>T	c.(3028-3030)tCa>tTa	p.S1010L	VPS13B_ENST00000358544.2_Missense_Mutation_p.S1010L|VPS13B_ENST00000357162.2_Missense_Mutation_p.S1010L			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1010					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAGCAGCAATCATATCAGGCC	0.448000													8	39					0	0	0.003080	0	0
NLRX1	79671	broad.mit.edu	37	11	119053011	119053011	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:119053011C>T	ENST00000409109.1	+	9	3150	c.2563C>T	c.(2563-2565)Ctg>Ttg	p.L855L	NLRX1_ENST00000525863.1_Silent_p.L855L|NLRX1_ENST00000292199.2_Silent_p.L855L|NLRX1_ENST00000409265.4_Silent_p.L855L|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000409991.1_Silent_p.L855L			Q86UT6	NLRX1_HUMAN	NLR family member X1	855	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGCCCTGGCCCTGGCCAGAGC	0.657000													13	41					0	0	0.002450	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39913600	39913600	+	Missense_Mutation	SNP	C	C	T	rs147664004		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:39913600C>T	ENST00000425673.1	+	16	2144	c.1819C>T	c.(1819-1821)Cct>Tct	p.P607S	PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P636S|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P577S|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409797.2_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	636					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TACCAAAATTCCTGACGTGCC	0.532000													4	50					0	0	0.000602	0	0
FAT1	2195	broad.mit.edu	37	4	187521125	187521125	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:187521125G>A	ENST00000441802.2	-	22	12239	c.12030C>T	c.(12028-12030)ttC>ttT	p.F4010F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4010					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGCCGTCAGGAAGCAGCCTG	0.532000										HNSCC(5;0.00058)			6	58					0	0	0.001168	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254013	39254013	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:39254013G>C	ENST00000333822.4	-	1	380	c.324C>G	c.(322-324)agC>agG	p.S108R		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	108	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.S108R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						gcttgcagcagctggacacac	0.662000													3	21					0	0	0.000602	0	0
LGALS4	3960	broad.mit.edu	37	19	39297114	39297114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:39297114G>A	ENST00000307751.4	-	4	938	c.461C>T	c.(460-462)cCc>cTc	p.P154L	LGALS4_ENST00000597803.1_5'UTR	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	154					cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GGGCCGGAGGGGCTGGCCTCC	0.478000													12	105					0	0	0.001368	0	0
OR4K5	79317	broad.mit.edu	37	14	20389069	20389069	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:20389069T>A	ENST00000315915.4	+	1	329	c.304T>A	c.(304-306)Ttc>Atc	p.F102I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGCCCAAATTTTCTTTATTCA	0.418000													8	213					0	0	0.003080	0	0
ABHD8	79575	broad.mit.edu	37	19	17412093	17412093	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:17412093C>T	ENST00000247706.3	-	2	572	c.333G>A	c.(331-333)ggG>ggA	p.G111G	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	111							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CCGGCGGCTCCCCAGAGCCAT	0.721000													8	25					0	0	0.008291	0	0
ETV3	2117	broad.mit.edu	37	1	157105325	157105325	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:157105325G>A	ENST00000368192.4	-	3	286	c.222C>T	c.(220-222)cgC>cgT	p.R74R	ETV3_ENST00000326786.4_Silent_p.R74R|ETV3_ENST00000460850.1_5'UTR	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	74							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				GGCCCCAGAGGCGGGCCACCT	0.537000													7	37					0	0	0.001984	0	0
SRPX2	27286	broad.mit.edu	37	X	99919868	99919868	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:99919868T>G	ENST00000373004.3	+	5	881	c.453T>G	c.(451-453)agT>agG	p.S151R		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	151	Sushi 2.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GCTGTTCCAGTGGCTACCACC	0.522000													3	8					0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179544115	179544115	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179544115C>T	ENST00000589042.1	-	142	33917	c.33693G>A	c.(33691-33693)gaG>gaA	p.E11231E	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.E9987E|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.E10914E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10914	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGAACTTTCTCCTCTGGCT	0.383000													9	58					0	0	0.001368	0	0
OR51B4	79339	broad.mit.edu	37	11	5322391	5322391	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:5322391C>T	ENST00000380224.1	-	1	835	c.786G>A	c.(784-786)ggG>ggA	p.G262G	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G262G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGCATGTTTCCCAAACCTGT	0.423000													5	45					0	0	0.001984	0	0
GRID2	2895	broad.mit.edu	37	4	94137934	94137934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:94137934G>A	ENST00000282020.4	+	6	1093	c.835G>A	c.(835-837)Gga>Aga	p.G279R	GRID2_ENST00000510992.1_Missense_Mutation_p.G184R|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	279					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AAGGTCAATTGGAAGGTTAAC	0.398000													7	81					0	0	0.003080	0	0
BCAN	63827	broad.mit.edu	37	1	156622516	156622516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:156622516C>T	ENST00000329117.4	+	8	2110	c.1774C>T	c.(1774-1776)Cct>Tct	p.P592S	BCAN_ENST00000361588.5_Missense_Mutation_p.P592S|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	592					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGAGGGTGCCCCTTCCCTGCT	0.627000													7	28					0	0	0.003080	0	0
SLC17A4	10050	broad.mit.edu	37	6	25777040	25777040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:25777040G>A	ENST00000397076.2	+	5	817	c.515G>A	c.(514-516)gGg>gAg	p.G172E	SLC17A4_ENST00000439485.2_Splice_Site_p.G144_splice|SLC17A4_ENST00000377905.4_Splice_Site_p.G374_splice			Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	374					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTACCCCAGGGGTTCTCTTC	0.562000													9	93					0	0	0.000978	0	0
LRP5	4041	broad.mit.edu	37	11	68115394	68115394	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:68115394C>T	ENST00000294304.7	+	2	277	c.171C>T	c.(169-171)atC>atT	p.I57I		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	57	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGTCCACCATCGTGGTCAGCG	0.642000													12	39					0	0	0.001368	0	0
BRI3BP	140707	broad.mit.edu	37	12	125509682	125509682	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:125509682C>T	ENST00000341446.8	+	3	553	c.462C>T	c.(460-462)ttC>ttT	p.F154F		NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN	BRI3 binding protein	154						integral to membrane|mitochondrial outer membrane				large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		ACGTGGTGTTCGGCCGCTTCT	0.652000													14	47					0	0	0.002450	0	0
DSEL	92126	broad.mit.edu	37	18	65178609	65178609	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:65178609G>A	ENST00000310045.7	-	2	4740	c.3267C>T	c.(3265-3267)ttC>ttT	p.F1089F	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1079						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GTTCATACTCGAAAGCATAAC	0.368000													4	35					0	0	0.000248	0	0
DCLK1	9201	broad.mit.edu	37	13	36424870	36424870	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:36424870C>T	ENST00000379892.4	-	7	1290	c.1079G>A	c.(1078-1080)gGa>gAa	p.G360E	DCLK1_ENST00000460982.1_5'UTR|DCLK1_ENST00000379893.1_Intron|DCLK1_ENST00000360631.3_Intron|DCLK1_ENST00000255448.4_Intron			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	0					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CACTGAGTCTCCTACTGAATC	0.438000													5	37					0	0	0.000602	0	0
BMS1	9790	broad.mit.edu	37	10	43312814	43312814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:43312814G>A	ENST00000374518.4	+	15	2515	c.2452G>A	c.(2452-2454)Gaa>Aaa	p.E818K		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	818					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCCCGACGAAGAAGAAAGTGC	0.318000													6	12					0	0	0.001168	0	0
HMGCS2	3158	broad.mit.edu	37	1	120301832	120301832	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:120301832C>T	ENST00000369406.3	-	4	808	c.759G>A	c.(757-759)gtG>gtA	p.V253V	HMGCS2_ENST00000476640.1_Intron|HMGCS2_ENST00000544913.2_Silent_p.V211V	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	253					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GCTTCCCATCCACTATTGGGT	0.458000													47	379					0	0	0.003610	0	0
TRPM6	140803	broad.mit.edu	37	9	77427271	77427271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:77427271C>T	ENST00000451710.3	-	12	1624	c.1387G>A	c.(1387-1389)Gga>Aga	p.G463R	TRPM6_ENST00000376872.3_Missense_Mutation_p.G463R|TRPM6_ENST00000360774.1_Missense_Mutation_p.G463R|TRPM6_ENST00000361255.3_Missense_Mutation_p.G458R|TRPM6_ENST00000376871.3_Missense_Mutation_p.G463R|TRPM6_ENST00000376864.4_Missense_Mutation_p.G463R|TRPM6_ENST00000449912.2_Missense_Mutation_p.G458R			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	463					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGGTTCACTCCATATTCTATT	0.423000													6	51					0	0	0.001168	0	0
AMPH	273	broad.mit.edu	37	7	38534086	38534086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:38534086C>T	ENST00000356264.2	-	4	462	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	AMPH_ENST00000325590.5_Missense_Mutation_p.E83K|AMPH_ENST00000428293.2_Missense_Mutation_p.E83K	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	83	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TCATAGACTTCATGCAGCGAC	0.532000													15	128					0	0	0.002450	0	0
OR10J5	127385	broad.mit.edu	37	1	159504990	159504990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:159504990C>T	ENST00000334857.2	-	1	852	c.808G>A	c.(808-810)Gac>Aac	p.D270N		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AGAACAAGGTCTTTTTCTATT	0.483000													5	42					0	0	0.001168	0	0
CFAP54	144535	broad.mit.edu	37	12	97133775	97133775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:97133775C>T	ENST00000524981.3	+	18	2360	c.2360C>T	c.(2359-2361)tCa>tTa	p.S787L				Q6ZTY8	CL063_HUMAN		761										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CTCCAGGATTCAAAACTTTTT	0.313000													4	32					0	0	0.000602	0	0
COX20	116228	broad.mit.edu	37	1	245006428	245006428	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:245006428G>A	ENST00000411948.2	+	4	700	c.307G>A	c.(307-309)Ggt>Agt	p.G103S	COX20_ENST00000366528.3_Missense_Mutation_p.G115S|COX20_ENST00000498262.1_3'UTR	NM_198076.4	NP_932342.1	Q5RI15	FA36A_HUMAN	COX20 cytochrome C oxidase assembly factor	103						integral to membrane											ATTATATGAAGGTACCCACCT	0.353000													18	49					0	0	0.007413	0	0
ATP5G2	517	broad.mit.edu	37	12	54069843	54069843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:54069843C>T	ENST00000394349.3	-	1	266	c.134G>A	c.(133-135)gGg>gAg	p.G45E	ATP5G2_ENST00000602871.1_5'UTR|ATP5G2_ENST00000549164.1_Intron|ATP5G2_ENST00000338662.5_Intron	NM_005176.5	NP_005167.2	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	0					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TTACCTGCTCCCACTGCAGAG	0.652000											OREG0021876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	22					0	0	0.000602	0	0
TREM2	54209	broad.mit.edu	37	6	41129230	41129230	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:41129230C>T	ENST00000373113.3	-	2	255	c.162G>A	c.(160-162)ctG>ctA	p.L54L	TREM2_ENST00000338469.3_Silent_p.L54L|TREM2_ENST00000373122.4_Silent_p.L54L	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	54	Ig-like V-type.				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTTCTCTCCCAGCTGGCGGC	0.632000													5	38					0	0	0.000602	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140656	143140656	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:143140656C>T	ENST00000332690.1	+	1	111	c.111C>T	c.(109-111)ttC>ttT	p.F37F	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	37					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GCAATGGCTTCATCACTGCTG	0.498000													20	102					0	0	0.001523	0	0
TRERF1	55809	broad.mit.edu	37	6	42236220	42236220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:42236220G>A	ENST00000541110.1	-	5	1677	c.1109C>T	c.(1108-1110)cCc>cTc	p.P370L	TRERF1_ENST00000340840.2_Missense_Mutation_p.P370L|TRERF1_ENST00000372922.4_Missense_Mutation_p.P370L|TRERF1_ENST00000372917.4_Missense_Mutation_p.P370L|TRERF1_ENST00000354325.2_Missense_Mutation_p.P370L			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	370	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGAGCCCAGGGGAATCAGCTG	0.607000													5	113					0	0	0.001984	0	0
PTH2R	5746	broad.mit.edu	37	2	209308228	209308228	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:209308228C>T	ENST00000272847.2	+	6	878	c.665C>T	c.(664-666)tCc>tTc	p.S222F	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	222						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		CCACAAAATTCCATTGAGGCA	0.373000													7	31					0	0	0.006214	0	0
KCTD6	200845	broad.mit.edu	37	3	58486841	58486841	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:58486841C>T	ENST00000355076.6	+	2	1179	c.196C>T	c.(196-198)Cga>Tga	p.R66*	KCTD6_ENST00000404589.3_Nonsense_Mutation_p.R66*|KCTD6_ENST00000490264.1_Nonsense_Mutation_p.R66*	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	66	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		ACCTCTTTTCCGATATGTCCT	0.433000													7	42					0	0	0.003080	0	0
ACBD3	64746	broad.mit.edu	37	1	226334326	226334326	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:226334326G>A	ENST00000366812.5	-	8	1626	c.1572C>T	c.(1570-1572)gtC>gtT	p.V524V		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	524	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TAGTATAATAGACTCTGTAGT	0.388000													5	47					0	0	0.001168	0	0
PROL1	58503	broad.mit.edu	37	4	71275270	71275270	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:71275270C>T	ENST00000399575.2	+	3	399	c.225C>T	c.(223-225)ttC>ttT	p.F75F	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	75	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CATCTTCTTTCTCTCGATTTA	0.463000													21	132					0	0	0.002780	0	0
SLC25A31	83447	broad.mit.edu	37	4	128688264	128688264	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:128688264G>A	ENST00000281154.4	+	4	690	c.522G>A	c.(520-522)atG>atA	p.M174I		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	174					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						ACTGTATTATGAAAATAGCAA	0.358000													15	44					0	0	0.002450	0	0
OSMR	9180	broad.mit.edu	37	5	38925388	38925388	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:38925388C>T	ENST00000274276.3	+	15	2529	c.2127C>T	c.(2125-2127)ttC>ttT	p.F709F		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	709	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CAGAATCCTTCTATGAGTTTT	0.428000													8	74					0	0	0.008291	0	0
LOXL4	84171	broad.mit.edu	37	10	100017476	100017476	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:100017476C>T	ENST00000260702.3	-	8	1341	c.1191G>A	c.(1189-1191)caG>caA	p.Q397Q		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	397	SRCR 3.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GGCAACCATTCTGGGACCCTT	0.577000													7	70					0	0	0.001984	0	0
IGSF1	3547	broad.mit.edu	37	X	130412580	130412580	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:130412580G>A	ENST00000370904.1	-	18	2779	c.1869C>T	c.(1867-1869)atC>atT	p.I623I	IGSF1_ENST00000370903.3_Silent_p.I637I|IGSF1_ENST00000361420.3_Silent_p.I632I|IGSF1_ENST00000370910.1_Silent_p.I623I			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	632	Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGCGAGTGGCGATCCACCCGG	0.617000													7	29					0	0	0.001984	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503681	140503681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140503681C>T	ENST00000194152.1	+	1	2101	c.2101C>T	c.(2101-2103)Ctc>Ttc	p.L701F		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		701					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCGCTCTTCCTCTTCTCGGT	0.711000													14	125					0	0	0.003163	0	0
EIF3E	3646	broad.mit.edu	37	8	109240513	109240513	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:109240513G>A	ENST00000220849.5	-	7	767	c.705C>T	c.(703-705)ctC>ctT	p.L235L	EIF3E_ENST00000519517.1_5'UTR|EIF3E_ENST00000519030.1_Silent_p.L142L	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	235					negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			GATAAAGGAAGAGGTCAATAA	0.348000													5	68					0	0	0.001168	0	0
GABRQ	55879	broad.mit.edu	37	X	151821286	151821286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:151821286G>A	ENST00000370306.2	+	9	1461	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	481						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.E481K(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTCCTACCGAAATCCGCAA	0.547000													8	49					0	0	0.003080	0	0
LDB2	9079	broad.mit.edu	37	4	16510278	16510278	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:16510278C>T	ENST00000502640.1	-	7	919	c.771G>A	c.(769-771)cgG>cgA	p.R257R	LDB2_ENST00000515064.1_Silent_p.R257R|LDB2_ENST00000503178.2_Silent_p.R133R|LDB2_ENST00000441778.2_Silent_p.R257R|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000304523.5_Silent_p.R257R			O43679	LDB2_HUMAN	LIM domain binding 2	257							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TCCTTTTTCTCCGTTTGGTTG	0.478000													4	64					0	0	0.000602	0	0
CACNA1H	8912	broad.mit.edu	37	16	1260921	1260921	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:1260921C>T	ENST00000348261.5	+	21	4421	c.4173C>T	c.(4171-4173)atC>atT	p.I1391I	CACNA1H_ENST00000358590.4_Silent_p.I1391I|CACNA1H_ENST00000565831.1_Silent_p.I1391I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1391					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCGCCAAGATCCTGGGTGTTC	0.682000													8	150					0	0	0.000978	0	0
IGHV3-38	28429	broad.mit.edu	37	14	106866503	106866503	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:106866503C>T	ENST00000390618.2	-	0	328																											GATGGTGAATCTGCCCTTCCT	0.517000													7	89					0	0	0.001984	0	0
SCML2	10389	broad.mit.edu	37	X	18283813	18283813	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:18283813G>A	ENST00000251900.4	-	8	999	c.840C>T	c.(838-840)gtC>gtT	p.V280V	SCML2_ENST00000398048.3_Silent_p.V16V	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	280					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTGATCTCCTGACCTGCTGTG	0.418000													15	51					0	0	0.004007	0	0
SETDB1	9869	broad.mit.edu	37	1	150913808	150913808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:150913808C>T	ENST00000271640.5	+	5	641	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368962.2_Missense_Mutation_p.R151C|SETDB1_ENST00000368969.4_Missense_Mutation_p.R151C|SETDB1_ENST00000368963.1_Missense_Mutation_p.R151C	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTACAGCTCCGTGAAGCTAT	0.388000													4	18					0	0	0.000248	0	0
ZNF746	155061	broad.mit.edu	37	7	149174079	149174079	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:149174079G>A	ENST00000340622.3	-	6	1052	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	ZNF746_ENST00000458143.2_Missense_Mutation_p.P258S			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	258					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGATGGTGGGGAGGGAGATCC	0.622000													6	57					0	0	0.001168	0	0
NALCN	259232	broad.mit.edu	37	13	101742248	101742248	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:101742248G>A	ENST00000251127.6	-	29	3420	c.3339C>T	c.(3337-3339)tcC>tcT	p.S1113S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1113						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCCTTTCAAGGAGAGAACTT	0.458000													24	238					0	0	0.006320	0	0
PKNOX1	5316	broad.mit.edu	37	21	44441539	44441539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:44441539G>A	ENST00000291547.5	+	8	1058	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	PKNOX1_ENST00000432907.2_Missense_Mutation_p.G166R	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	283							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CCAGCACATCGGGGTAAGGAC	0.557000													9	48					0	0	0.001855	0	0
MDH1B	130752	broad.mit.edu	37	2	207615786	207615786	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:207615786C>T	ENST00000374412.3	-	6	1199	c.924G>A	c.(922-924)gtG>gtA	p.V308V	MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Silent_p.V308V|MDH1B_ENST00000449792.1_Silent_p.V210V	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	308					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CCCAAATGATCACGTCTTTAA	0.323000													13	49					0	0	0.001855	0	0
DCTN1	1639	broad.mit.edu	37	2	74594007	74594007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:74594007G>A	ENST00000361874.3	-	21	2686	c.2369C>T	c.(2368-2370)tCa>tTa	p.S790L	DCTN1_ENST00000409567.3_Missense_Mutation_p.S770L|DCTN1_ENST00000409868.1_Missense_Mutation_p.S773L|DCTN1_ENST00000407639.2_Missense_Mutation_p.S656L|DCTN1_ENST00000394003.3_Missense_Mutation_p.S783L|DCTN1_ENST00000409438.1_Missense_Mutation_p.S656L|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409240.1_Missense_Mutation_p.S753L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	790					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GTCACTGCATGAAGTTTCCAG	0.532000													6	46					0	0	0.001984	0	0
UBE2C	11065	broad.mit.edu	37	20	44444315	44444315	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:44444315C>T	ENST00000405520.1	+	3	1072	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	UBE2C_ENST00000496085.1_3'UTR|UBE2C_ENST00000335046.3_Intron|UBE2C_ENST00000372568.4_Silent_p.L79L|UBE2C_ENST00000356455.4_Silent_p.L118L|UBE2C_ENST00000243893.6_Intron|UBE2C_ENST00000352551.5_Silent_p.L89L	NM_181802.1	NP_861518.1	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C	118					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization	anaphase-promoting complex|cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CCTGGACATCCTGAAGGAAAA	0.552000													6	53					0	0	0.001168	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169684963	169684963	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:169684963A>G	ENST00000444448.2	+	7	770	c.294A>G	c.(292-294)atA>atG	p.I98M	NOSTRIN_ENST00000458381.2_Missense_Mutation_p.I98M|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.I70M|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.I98M|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.I70M|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.I20M|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.I20M			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	98					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TGGAAGCAATAAAACCGACTT	0.328000													9	67					0	0	0.008291	0	0
CCR6	1235	broad.mit.edu	37	6	167550192	167550192	+	Silent	SNP	C	C	T	rs111874598		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:167550192C>T	ENST00000341935.5	+	3	1026	c.474C>T	c.(472-474)tcC>tcT	p.S158S	CCR6_ENST00000400926.2_Silent_p.S158S|CCR6_ENST00000349984.4_Silent_p.S158S	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	158					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GGCTCCGATCCAGAACACTAC	0.498000													6	52					0	0	0.001984	0	0
UBAP2L	9898	broad.mit.edu	37	1	154218774	154218774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:154218774C>T	ENST00000428931.1	+	11	1104	c.937C>T	c.(937-939)Cct>Tct	p.P313S	UBAP2L_ENST00000361546.2_Missense_Mutation_p.P313S|UBAP2L_ENST00000271877.7_Missense_Mutation_p.P324S|UBAP2L_ENST00000343815.6_Missense_Mutation_p.P313S	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	313					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCTGGCCCAGCCTCTGGTGTT	0.468000													10	107					0	0	0.006214	0	0
SGK223	157285	broad.mit.edu	37	8	8175943	8175943	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:8175943G>A	ENST00000520004.1	-	6	4206	c.3942C>T	c.(3940-3942)atC>atT	p.I1314I	SGK223_ENST00000330777.4_Silent_p.I1314I			Q86YV5	SG223_HUMAN		1314	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										TGGCCTCGCCGATGCGGATAC	0.716000													5	20					0	0	0.000602	0	0
MIA3	375056	broad.mit.edu	37	1	222838884	222838884	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:222838884G>A	ENST00000344922.5	+	28	5672	c.5647G>A	c.(5647-5649)Ggc>Agc	p.G1883S	MIA3_ENST00000340535.7_Missense_Mutation_p.G761S|MIA3_ENST00000344441.6_Missense_Mutation_p.G1883S|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1883	Pro-rich.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ACTGCCGTCAGGCTCTAGAGA	0.517000													25	302					0	0	0.006320	0	0
AURKC	6795	broad.mit.edu	37	19	57743922	57743922	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:57743922C>T	ENST00000302804.7	+	4	495	c.309C>T	c.(307-309)atC>atT	p.I103I	AURKC_ENST00000415300.2_Silent_p.I84I|AURKC_ENST00000599062.1_Silent_p.I100I|AURKC_ENST00000598785.1_Silent_p.I69I|AURKC_ENST00000448930.1_Silent_p.I69I	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	103	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		ACCCCAATATCCTGCGCCTGT	0.493000													7	62					0	0	0.001984	0	0
RASGRP4	115727	broad.mit.edu	37	19	38911592	38911592	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:38911592C>T	ENST00000454404.2	-	4	546	c.333G>A	c.(331-333)ggG>ggA	p.G111G	RASGRP4_ENST00000586305.1_Silent_p.G111G|RASGRP4_ENST00000587738.1_Silent_p.G111G|RASGRP4_ENST00000587753.1_Silent_p.G111G|RASGRP4_ENST00000433821.2_Silent_p.G111G|RASGRP4_ENST00000293062.9_Silent_p.G111G|RASGRP4_ENST00000426920.2_Silent_p.G111G	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	111	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTGGGTGTCCCCTGTGGCCT	0.587000													5	37					0	0	0.001984	0	0
SLC9C2	284525	broad.mit.edu	37	1	173552678	173552678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:173552678G>A	ENST00000367714.3	-	6	1029	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	SLC9C2_ENST00000536496.1_Missense_Mutation_p.R101W|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	203					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CTGTTGCCCCGAAAATTTCCA	0.284000													4	44					0	0	0.000602	0	0
DRP2	1821	broad.mit.edu	37	X	100493979	100493979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:100493979G>A	ENST00000395209.3	+	6	975	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	DRP2_ENST00000541709.1_Missense_Mutation_p.E72K|DRP2_ENST00000538510.1_Missense_Mutation_p.E150K|DRP2_ENST00000402866.1_Missense_Mutation_p.E150K	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	150					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GGCCTTTATGGAAGAAGTCAA	0.448000													8	28					0	0	0.004482	0	0
OR5C1	392391	broad.mit.edu	37	9	125551761	125551761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:125551761G>A	ENST00000373680.2	+	1	612	c.550G>A	c.(550-552)Gat>Aat	p.D184N		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CTTCTTCTGCGATATCCCTCC	0.562000													4	25					0	0	0.000248	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27841341	27841341	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:27841341C>T	ENST00000318304.8	+	25	2782	c.2499C>T	c.(2497-2499)gtC>gtT	p.V833V	PPFIBP1_ENST00000542629.1_Silent_p.V802V|PPFIBP1_ENST00000228425.6_Silent_p.V827V|PPFIBP1_ENST00000537927.1_Silent_p.V680V	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	833	SAM 3.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GCAGTGGTGTCCATGGTGGGC	0.438000													37	182					0	0	0.002222	0	0
DIDO1	11083	broad.mit.edu	37	20	61528327	61528327	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:61528327G>A	ENST00000266070.4	-	7	1935	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F	DIDO1_ENST00000395340.1_Missense_Mutation_p.S537F|DIDO1_ENST00000395335.2_Missense_Mutation_p.S537F|DIDO1_ENST00000395343.1_Missense_Mutation_p.S537F	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	537					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTTCTCCTCGGACCTCCTGTC	0.567000													4	27					0	0	0.000602	0	0
COL2A1	1280	broad.mit.edu	37	12	48391405	48391405	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:48391405G>A	ENST00000380518.3	-	7	679	c.515C>T	c.(514-516)cCc>cTc	p.P172L	COL2A1_ENST00000337299.6_Missense_Mutation_p.P103L	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	172					axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AAgaccagggggaccaggggg	0.582000													5	26					0	0	0.000602	0	0
CCIN	881	broad.mit.edu	37	9	36169518	36169518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:36169518G>A	ENST00000335119.2	+	1	130	c.19G>A	c.(19-21)Gag>Aag	p.E7K		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	7					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GGAATTCACGGAGAAAAACTA	0.493000													8	25					0	0	0.006214	0	0
FOSB	2354	broad.mit.edu	37	19	45976161	45976161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:45976161C>T	ENST00000353609.3	+	4	1500	c.908C>T	c.(907-909)tCg>tTg	p.S303L	FOSB_ENST00000443841.2_Missense_Mutation_p.S160L|FOSB_ENST00000592436.1_3'UTR|FOSB_ENST00000586615.1_Missense_Mutation_p.S254L|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000592811.1_3'UTR|FOSB_ENST00000591858.1_Missense_Mutation_p.S264L|FOSB_ENST00000585836.1_Missense_Mutation_p.S228L|FOSB_ENST00000417353.2_Missense_Mutation_p.S267L	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	303					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		TACACTTCTTCGTTTGTCCTC	0.617000													20	49					0	0	0.001882	0	0
ENKUR	219670	broad.mit.edu	37	10	25288372	25288372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:25288372C>T	ENST00000331161.4	-	2	400	c.181G>A	c.(181-183)Gat>Aat	p.D61N	ENKUR_ENST00000376363.1_Missense_Mutation_p.D61N	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	61						cilium|flagellum	calmodulin binding|SH3 domain binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TTTAGGAAATCCTTTGGAGAA	0.323000													4	19					0	0	0.000248	0	0
FAM154B	283726	broad.mit.edu	37	15	82575038	82575038	+	Missense_Mutation	SNP	C	C	T	rs149603065		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:82575038C>T	ENST00000339465.5	+	3	901	c.832C>T	c.(832-834)Cct>Tct	p.P278S	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.P263S	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	278								p.P278S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TAACAATTTTCCTTTCCAAGG	0.418000													11	52					0	0	0.000978	0	0
TTC21A	199223	broad.mit.edu	37	3	39174603	39174603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:39174603C>T	ENST00000301819.6	+	20	2824	c.2647C>T	c.(2647-2649)Ccc>Tcc	p.P883S	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Missense_Mutation_p.P834S|TTC21A_ENST00000431162.2_Missense_Mutation_p.P882S	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	882							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AGAAATGATTCCCTCCCAGAA	0.502000													8	43					0	0	0.003080	0	0
ZNF106	64397	broad.mit.edu	37	15	42743035	42743035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:42743035G>A	ENST00000263805.4	-	2	1692	c.1366C>T	c.(1366-1368)Cca>Tca	p.P456S	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		GCTGGACATGGAAGGAGTGGG	0.423000													15	148					0	0	0.004007	0	0
HTR3E	285242	broad.mit.edu	37	3	183823957	183823957	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:183823957C>T	ENST00000415389.2	+	8	1433	c.967C>T	c.(967-969)Ctg>Ttg	p.L323L	HTR3E_ENST00000440596.2_Silent_p.L349L|HTR3E_ENST00000436361.2_Silent_p.L323L|HTR3E_ENST00000425359.2_Silent_p.L308L|HTR3E_ENST00000335304.2_Silent_p.L338L	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	323						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GGTGGGCAGCCTGCTGGAGAC	0.637000													6	47					0	0	0.001984	0	0
CNTNAP5	129684	broad.mit.edu	37	2	124783231	124783231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:124783231G>A	ENST00000431078.1	+	1	368	c.4G>A	c.(4-6)Gat>Aat	p.D2N	CNTNAP5_ENST00000423939.2_3'UTR	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	2					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGGGGAAATGGATTCTTTACC	0.552000													4	45					0	0	0.001168	0	0
MTRR	4552	broad.mit.edu	37	5	7878144	7878144	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:7878144A>G	ENST00000264668.2	+	5	600	c.570A>G	c.(568-570)atA>atG	p.I190M	MTRR_ENST00000440940.2_Missense_Mutation_p.I163M|MTRR_ENST00000341013.6_3'UTR|MTRR_ENST00000502509.1_3'UTR	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	190					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AAGAGGAGATAAGTGGCGCAC	0.507000													3	22					0	0	0.004672	0	0
DOPEY2	9980	broad.mit.edu	37	21	37605196	37605196	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:37605196C>T	ENST00000399151.3	+	15	2530	c.2445C>T	c.(2443-2445)tcC>tcT	p.S815S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	815					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGGCCATTTCCACTCTGCTGG	0.483000													10	77					0	0	0.001368	0	0
KCNH1	3756	broad.mit.edu	37	1	210948780	210948780	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:210948780C>T	ENST00000367007.4	-	10	2110	c.1941G>A	c.(1939-1941)cgG>cgA	p.R647R	KCNH1_ENST00000271751.4_Silent_p.R674R	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	674					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GCAGGGCATCCCGCTTGATCA	0.522000													6	47					0	0	0.001984	0	0
SOHLH2	54937	broad.mit.edu	37	13	36748878	36748878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:36748878G>A	ENST00000379881.3	-	7	858	c.770C>T	c.(769-771)tCt>tTt	p.S257F	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.S334F|SOHLH2_ENST00000554962.1_Missense_Mutation_p.S334F	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		AACGGCTGGAGAGATTTTCTC	0.373000													5	41					0	0	0.000602	0	0
ABCA4	24	broad.mit.edu	37	1	94512566	94512566	+	Missense_Mutation	SNP	G	G	A	rs61749446		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:94512566G>A	ENST00000370225.3	-	19	2913	c.2827C>T	c.(2827-2829)Cgg>Tgg	p.R943W	ABCA4_ENST00000535735.1_Missense_Mutation_p.R869W	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	943	ABC transporter 1.		R -> Q (in linkage disequilibrium with A- 863 in the European population; dbSNP:rs1801581).|R -> W (in STGD1 and FFM).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACAGCTGGCCGGCCACAGGGC	0.512000													12	171					0	0	0.000978	0	0
KCNK16	83795	broad.mit.edu	37	6	39285722	39285722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:39285722C>T	ENST00000425054.2	-	3	334	c.335G>A	c.(334-336)gGg>gAg	p.G112E	KCNK16_ENST00000507712.1_Missense_Mutation_p.G47E|KCNK16_ENST00000373227.4_Missense_Mutation_p.G112E|KCNK16_ENST00000437525.2_Missense_Mutation_p.G112E|KCNK16_ENST00000373229.5_Missense_Mutation_p.G112E	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	112						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TGCCAGGTTCCCATATCCTGC	0.562000													7	34					0	0	0.003080	0	0
FKTN	2218	broad.mit.edu	37	9	108370212	108370212	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:108370212G>T	ENST00000223528.2	+	6	884	c.760G>T	c.(760-762)Gaa>Taa	p.E254*	FKTN_ENST00000602661.1_Nonsense_Mutation_p.E254*|FKTN_ENST00000448551.2_Nonsense_Mutation_p.E254*|FKTN_ENST00000540160.1_Nonsense_Mutation_p.E254*|FKTN_ENST00000357998.5_Nonsense_Mutation_p.E254*	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	254					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity	p.E254K(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						TAGGTATAAAGAAGCTCGAGC	0.353000													7	34					2.7689e-08	3.14314e-08	0.001984	1	0
GPC2	221914	broad.mit.edu	37	7	99771474	99771474	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:99771474G>A	ENST00000292377.2	-	5	1043	c.876C>T	c.(874-876)gaC>gaT	p.D292D	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	292						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTTGCCCCAGTCAGGCTCCA	0.612000													49	184					0	0	0.003610	0	0
ATAD3C	219293	broad.mit.edu	37	1	1403879	1403879	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:1403879C>T	ENST00000378785.2	+	12	2200	c.1205C>T	c.(1204-1206)cCt>cTt	p.P402L		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	402							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGGAGAGGCCTGGGCCCGAG	0.672000													3	16					0	0	0.004672	0	0
FABP1	2168	broad.mit.edu	37	2	88425812	88425812	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:88425812G>A	ENST00000393750.3	-	2	154	c.123C>T	c.(121-123)atC>atT	p.I41I	FABP1_ENST00000295834.3_Silent_p.I41I|FABP1_ENST00000495375.1_5'UTR			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	41					organ morphogenesis			p.I41I(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						CATTCTGCACGATTTCCGACA	0.527000													9	175					0	0	0.004482	0	0
CDON	50937	broad.mit.edu	37	11	125888225	125888225	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:125888225G>A	ENST00000392693.3	-	5	767	c.640_splice	c.e5+1	p.R214_splice	CDON_ENST00000263577.7_Splice_Site_p.R214_splice	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	214					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	p.R214C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		AAATACTTACGACTCACAAGG	0.368000													12	34					0	0	0.001368	0	0
MEFV	4210	broad.mit.edu	37	16	3304166	3304166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:3304166G>A	ENST00000219596.1	-	2	941	c.902C>T	c.(901-903)tCg>tTg	p.S301L	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	301					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	accggtgacCGAATGTTCTGG	0.562000													5	53					0	0	0.000602	0	0
SERPINB11	89778	broad.mit.edu	37	18	61379812	61379812	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:61379812G>A	ENST00000544088.1	+	0	304				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				AGCCAAGCTGGAAGAATTCAT	0.418000													11	56					0	0	0.008291	0	0
CYP4A22	284541	broad.mit.edu	37	1	47603272	47603272	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:47603272C>T	ENST00000371891.3	+	1	146	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Silent_p.L39L|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Silent_p.L39L	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	39						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAGCTCTACCTGCATAGGCA	0.622000													11	43					0	0	0.001368	0	0
COPG1	22820	broad.mit.edu	37	3	128979213	128979213	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:128979213C>T	ENST00000314797.6	+	11	1013	c.909C>T	c.(907-909)ctC>ctT	p.L303L		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	303					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										AGGCTGCTCTCCGCTATGCTG	0.567000													5	77					0	0	0.003080	0	0
ABCA12	26154	broad.mit.edu	37	2	215843724	215843724	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:215843724G>A	ENST00000272895.7	-	32	5000	c.4781C>T	c.(4780-4782)gCc>gTc	p.A1594V	ABCA12_ENST00000389661.4_Missense_Mutation_p.A1276V	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1594					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGCTGTCACGGCCATGGTGTC	0.443000													10	20					0	0	0.001368	0	0
GABRE	2564	broad.mit.edu	37	X	151138708	151138708	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:151138708G>A	ENST00000370325.1	-	2	276	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Silent_p.L75L			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	75					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					ATAGTGTTCAGGATGCGAGAG	0.537000													19	48					0	0	0.002299	0	0
ARAP1	116985	broad.mit.edu	37	11	72404460	72404460	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:72404460G>A	ENST00000359373.5	-	29	4715	c.3864C>T	c.(3862-3864)agC>agT	p.S1288S	ARAP1_ENST00000334211.8_Silent_p.S1043S|ARAP1_ENST00000393605.3_Silent_p.S1048S|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393609.3_Silent_p.S1288S|ARAP1_ENST00000455638.2_Silent_p.S1288S|ARAP1_ENST00000426523.1_Silent_p.S1043S|ARAP1_ENST00000429686.1_Silent_p.S982S			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1288	PH 4.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GGCCCAGGAGGCTGCGGTCCT	0.637000													33	348					0	0	0.006999	0	0
IBSP	3381	broad.mit.edu	37	4	88733012	88733012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:88733012G>A	ENST00000226284.5	+	7	971	c.904G>A	c.(904-906)Gga>Aga	p.G302R		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	302					biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		CTACTTTAAAGGACAAGGCTA	0.463000													6	83					0	0	0.004482	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559323	1559323	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:1559323C>T	ENST00000381605.4	-	2	158	c.94G>A	c.(94-96)Gag>Aag	p.E32K	SIRPB1_ENST00000381603.3_Missense_Mutation_p.E32K|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.E32K|SIRPB1_ENST00000262929.5_Missense_Mutation_p.E31K	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	32	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						ACCTGTAGCTCGTCCTCACCT	0.507000													4	18					0	0	0.000248	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39103800	39103800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:39103800G>A	ENST00000297668.6	-	16	2550	c.2477C>T	c.(2476-2478)tCc>tTc	p.S826F	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.S825F|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.S738F	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	826	Laminin G-like 3.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CACCCCGGAGGAAACTGTGGT	0.478000													5	27					0	0	0.001984	0	0
A1CF	29974	broad.mit.edu	37	10	52610545	52610545	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:52610545C>T	ENST00000373995.3	-	3	261	c.3G>A	c.(1-3)atG>atA	p.M1I	A1CF_ENST00000282641.2_Intron|A1CF_ENST00000373997.3_Intron|A1CF_ENST00000395489.2_5'UTR|A1CF_ENST00000374001.1_Intron|A1CF_ENST00000395495.1_Intron|A1CF_ENST00000373993.1_Intron	NM_138933.2	NP_620311.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	0					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						ACACTGCTTCCATCTATAGGA	0.413000													8	75					0	0	0.003080	0	0
NCALD	83988	broad.mit.edu	37	8	102705104	102705104	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:102705104G>A	ENST00000395923.1	-	5	858	c.399C>T	c.(397-399)tcC>tcT	p.S133S	NCALD_ENST00000521599.1_Silent_p.S133S|NCALD_ENST00000311028.3_Silent_p.S133S|NCALD_ENST00000522951.1_Silent_p.S133S|NCALD_ENST00000519508.2_Silent_p.S133S|NCALD_ENST00000220931.6_Silent_p.S133S	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	neurocalcin delta	133					synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			TCATTACAGAGGAAACCATCT	0.463000													9	42					0	0	0.004482	0	0
LRP2	4036	broad.mit.edu	37	2	170058237	170058237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:170058237C>T	ENST00000263816.3	-	44	8638	c.8353G>A	c.(8353-8355)Gag>Aag	p.E2785K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2785	LDL-receptor class A 18.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACATAAACTCCGTGGTGGCA	0.463000													4	46					0	0	0.000248	0	0
ANKHD1	54882	broad.mit.edu	37	5	139889306	139889306	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:139889306A>C	ENST00000297183.6	+	21	3974	c.3850A>C	c.(3850-3852)Aat>Cat	p.N1284H	ANKHD1_ENST00000360839.2_Missense_Mutation_p.N1284H|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.N1284H	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGATGTTAATGCTCCCCC	0.438000													13	23					0	0	0.002450	0	0
B4GALT2	8704	broad.mit.edu	37	1	44451238	44451238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:44451238C>T	ENST00000356836.6	+	6	1703	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000434555.2_Missense_Mutation_p.R239C|B4GALT2_ENST00000372324.1_Missense_Mutation_p.R305C|B4GALT2_ENST00000309519.7_Missense_Mutation_p.R334C	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	305					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCGAATCGGCCGCTACCGCAT	0.587000													8	53					0	0	0.004482	0	0
ARSF	416	broad.mit.edu	37	X	3019200	3019200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:3019200G>A	ENST00000381127.1	+	8	1261	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	ARSF_ENST00000359361.2_Missense_Mutation_p.G347E|ARSF_ENST00000537104.1_Missense_Mutation_p.G347E	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	347						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCAGATCACGGAGGGCATTTG	0.433000													10	49					0	0	0.006214	0	0
TRPM5	29850	broad.mit.edu	37	11	2438964	2438964	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:2438964C>T	ENST00000452833.1	-	7	1016	c.1008G>A	c.(1006-1008)ctG>ctA	p.L336L	TRPM5_ENST00000155858.6_Silent_p.L334L|TRPM5_ENST00000533060.1_Silent_p.L334L|TRPM5_ENST00000528453.1_Silent_p.L334L			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	334						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACCTTTCACCAGCGCCTTCA	0.622000													4	41					0	0	0.000248	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99217342	99217342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:99217342C>T	ENST00000394152.2	+	4	440	c.113C>T	c.(112-114)cCa>cTa	p.P38L	ZSCAN25_ENST00000466948.1_3'UTR|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.P38L|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.P38L	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		GACCCTAGTCCAGAGACTTTT	0.587000													11	173					0	0	0.001855	0	0
KIAA1244	57221	broad.mit.edu	37	6	138607888	138607888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:138607888G>A	ENST00000251691.4	+	16	2786	c.2620G>A	c.(2620-2622)Gat>Aat	p.D874N		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	874					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GAACTTGATCGATACTTTATC	0.512000													8	92					0	0	0.006214	0	0
GRM7	2917	broad.mit.edu	37	3	7620850	7620850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:7620850G>A	ENST00000486284.1	+	8	2531	c.2257G>A	c.(2257-2259)Gat>Aat	p.D753N	GRM7_ENST00000389336.4_Missense_Mutation_p.D753N|GRM7_ENST00000402647.2_Missense_Mutation_p.D753N|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Missense_Mutation_p.D753N|GRM7_ENST00000403881.1_Missense_Mutation_p.D753N	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	753					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TGACATTACAGATCTCCAAAT	0.438000													5	67					0	0	0.000602	0	0
PSD3	23362	broad.mit.edu	37	8	18662374	18662374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:18662374G>A	ENST00000440756.2	-	5	1771	c.1669C>T	c.(1669-1671)Cat>Tat	p.H557Y	PSD3_ENST00000523619.1_Missense_Mutation_p.H492Y|PSD3_ENST00000286485.8_Missense_Mutation_p.H23Y|PSD3_ENST00000327040.8_Missense_Mutation_p.H557Y			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	557	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ATTTCAGAATGAGCTTCTAGC	0.388000													14	110					0	0	0.003163	0	0
GPR39	2863	broad.mit.edu	37	2	133174903	133174903	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:133174903G>A	ENST00000329321.3	+	1	757	c.288G>A	c.(286-288)tgG>tgA	p.W96*		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	96						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCATCATCTGGAATCCCCTGA	0.557000													6	59					0	0	0.003080	0	0
PISD	23761	broad.mit.edu	37	22	32017036	32017036	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:32017036G>A	ENST00000382151.2	-	6	1107	c.688C>T	c.(688-690)Cac>Tac	p.H230Y	PISD_ENST00000478893.1_5'UTR|PISD_ENST00000266095.5_Missense_Mutation_p.H230Y|PISD_ENST00000439502.2_Missense_Mutation_p.H264Y|PISD_ENST00000397500.1_Missense_Mutation_p.H230Y|PISD_ENST00000336566.4_Missense_Mutation_p.H263Y			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	264					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGGAAGCAGTGGTAGTCCCCA	0.642000											OREG0003530	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	37					0	0	0.001984	0	0
RTKN2	219790	broad.mit.edu	37	10	64022544	64022544	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:64022544G>A	ENST00000373789.3	-	2	193	c.97C>T	c.(97-99)Cga>Tga	p.R33*	RTKN2_ENST00000395265.1_Nonsense_Mutation_p.R33*|RTKN2_ENST00000395260.3_Nonsense_Mutation_p.R33*	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	33					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TCTCGCATTCGAATTTCTAAG	0.333000													4	28					0	0	0.000602	0	0
C3orf20	84077	broad.mit.edu	37	3	14724407	14724407	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:14724407C>T	ENST00000253697.3	+	3	639	c.187C>T	c.(187-189)Ccg>Tcg	p.P63S	C3orf20_ENST00000412910.1_Intron|C3orf20_ENST00000435614.1_Intron	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	63						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGTGCCTACCCCGTCCGACAT	0.542000													16	78					0	0	0.006122	0	0
MYH13	8735	broad.mit.edu	37	17	10215934	10215934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10215934G>A	ENST00000418404.3	-	30	4485	c.4322C>T	c.(4321-4323)aCc>aTc	p.T1441I	MYH13_ENST00000252172.4_Missense_Mutation_p.T1441I|MYH13_ENST00000570743.1_Missense_Mutation_p.T1441I			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1441					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGCACAGGCGGTGTGGGAGCG	0.562000													6	19					0	0	0.001168	0	0
TREML4	285852	broad.mit.edu	37	6	41204223	41204223	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:41204223G>A	ENST00000341495.2	+	5	610		c.e5-1		TREML4_ENST00000448827.2_Splice_Site	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4							extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					CTTCCCTGCAGGAAATCAAGA	0.592000													4	34					0	0	0.000602	0	0
PLG	5340	broad.mit.edu	37	6	161127561	161127561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:161127561G>A	ENST00000308192.9	+	2	235	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	PLG_ENST00000366924.2_Missense_Mutation_p.E58K|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	58	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGAGGACGAAGAATTCACCTG	0.423000													14	57					0	0	0.002450	0	0
BRSK1	84446	broad.mit.edu	37	19	55820096	55820096	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55820096G>A	ENST00000309383.1	+	18	2456	c.2179_splice	c.e18+1	p.D727_splice	BRSK1_ENST00000590333.1_Splice_Site_p.D743_splice|BRSK1_ENST00000326848.7_Splice_Site_p.D422_splice	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	727					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GGCCCTggcaggtgggtggtg	0.746000													4	7					0	0	0.000602	0	0
IDS	3423	broad.mit.edu	37	X	148579787	148579787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:148579787C>T	ENST00000340855.6	-	5	768	c.559G>A	c.(559-561)Gat>Aat	p.D187N	IDS_ENST00000370443.4_Missense_Mutation_p.D187N|IDS_ENST00000541269.1_5'UTR|IDS_ENST00000370441.4_Missense_Mutation_p.D187N|IDS_ENST00000490775.1_5'UTR|AF011889.5_ENST00000422081.1_RNA	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	187						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCCAGCACATCCACAGGGCAA	0.453000													9	11					0	0	0.006214	0	0
DNPEP	23549	broad.mit.edu	37	2	220250763	220250763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:220250763G>A	ENST00000273075.4	-	6	737	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	DNPEP_ENST00000373972.1_Missense_Mutation_p.R98C|DNPEP_ENST00000523282.1_Missense_Mutation_p.R181C	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	163					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	TGTGGGATGCGAAGAATGGGC	0.632000													12	58					0	0	0.003163	0	0
ST18	9705	broad.mit.edu	37	8	53084431	53084431	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:53084431G>A	ENST00000276480.7	-	10	1673	c.990C>T	c.(988-990)ttC>ttT	p.F330F		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	330						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GCTCCAGCAGGAACCTATCCA	0.448000													9	78					0	0	0.000978	0	0
FAF2	23197	broad.mit.edu	37	5	175921237	175921237	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:175921237T>A	ENST00000261942.6	+	7	675	c.622T>A	c.(622-624)Ttc>Atc	p.F208I		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	208					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TAGGATGCTCTTCTGGGCATG	0.398000													5	49					0	0	0.003080	0	0
FREM1	158326	broad.mit.edu	37	9	14848671	14848671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:14848671C>T	ENST00000380881.4	-	8	2071	c.1256G>A	c.(1255-1257)tGg>tAg	p.W419*	FREM1_ENST00000380880.3_Nonsense_Mutation_p.W418*|FREM1_ENST00000422223.2_Nonsense_Mutation_p.W418*			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	418					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACCTGTATTCCAGGATACACG	0.423000													5	35					0	0	0.001984	0	0
RNF43	54894	broad.mit.edu	37	17	56435504	56435504	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:56435504A>G	ENST00000584437.1	-	8	3588	c.1633T>C	c.(1633-1635)Tcc>Ccc	p.S545P	RNF43_ENST00000577716.1_Missense_Mutation_p.S545P|RNF43_ENST00000583753.1_Missense_Mutation_p.S504P|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Missense_Mutation_p.S418P|RNF43_ENST00000581868.1_Missense_Mutation_p.S418P|RNF43_ENST00000500597.2_Missense_Mutation_p.S504P|RNF43_ENST00000407977.2_Missense_Mutation_p.S545P			Q68DV7	RNF43_HUMAN	ring finger protein 43	545						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACATGGCTGGAAACCTGGGTT	0.622000													9	57					0	0	0.006214	0	0
ABCC9	10060	broad.mit.edu	37	12	21970122	21970122	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:21970122C>T	ENST00000261200.4	-	31	3890	c.3892_splice	c.e31+1	p.M1297_splice	ABCC9_ENST00000261201.4_Splice_Site_p.M1297_splice|ABCC9_ENST00000345162.2_Splice_Site_p.M1261_splice	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1297					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GAGCAATACCCATTGTGCCTT	0.398000													12	130					0	0	0.002450	0	0
CYP2C9	1559	broad.mit.edu	37	10	96731977	96731977	+	Silent	SNP	C	C	T	rs9332173		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:96731977C>T	ENST00000260682.6	+	6	948	c.936C>T	c.(934-936)ctC>ctT	p.L312L		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	312					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CTCTCCTTCTCCTGCTGAAGC	0.433000													12	69					0	0	0.001855	0	0
CABIN1	23523	broad.mit.edu	37	22	24451467	24451467	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:24451467C>T	ENST00000398319.2	+	9	1323	c.938C>T	c.(937-939)tCc>tTc	p.S313F	CABIN1_ENST00000263119.5_Missense_Mutation_p.S313F|CABIN1_ENST00000405822.2_Missense_Mutation_p.S263F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	313					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTTGAGTCCTCCATGGTGGTG	0.577000													8	60					0	0	0.004482	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926844	130926844	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:130926844G>A	ENST00000261655.4	-	8	1165	c.1002C>T	c.(1000-1002)gtC>gtT	p.V334V	RIMBP2_ENST00000535703.1_Silent_p.V242V|RIMBP2_ENST00000536002.1_Silent_p.V242V	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	334	Fibronectin type-III 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGTCCACCAGGACGTTGTAGC	0.572000													16	59					0	0	0.006122	0	0
MMEL1	79258	broad.mit.edu	37	1	2538438	2538438	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:2538438C>T	ENST00000288709.6	-	7	819	c.579G>A	c.(577-579)gcG>gcA	p.A193A	MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000378412.3_Silent_p.A202A	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	202					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ACCTGTCCATCGCCACCGGCC	0.632000													5	62					0	0	0.001168	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24533816	24533816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:24533816G>A	ENST00000357578.3	+	10	1629	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E	ALDH5A1_ENST00000491546.1_Missense_Mutation_p.G467E|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.G407E|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.G508E	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	495					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GTCAACGAAGGATTAATTTCC	0.512000													10	85					0	0	0.008291	0	0
MYOF	26509	broad.mit.edu	37	10	95147664	95147664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:95147664C>T	ENST00000371501.4	-	19	1710	c.1588G>A	c.(1588-1590)Gga>Aga	p.G530R	MYOF_ENST00000358334.5_Missense_Mutation_p.G517R|MYOF_ENST00000371502.4_Missense_Mutation_p.G530R|MYOF_ENST00000359263.4_Missense_Mutation_p.G530R			Q9NZM1	MYOF_HUMAN	myoferlin	530					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TAGGCAACTCCTTCCCCCTGA	0.428000													7	70					0	0	0.003080	0	0
FAM221B	392307	broad.mit.edu	37	9	35826156	35826156	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:35826156C>T	ENST00000423537.2	-	2	272	c.3G>A	c.(1-3)atG>atA	p.M1I	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	CI128_HUMAN	family with sequence similarity 221, member B	1										endometrium(2)|kidney(1)|lung(4)	7						CATGTGCTTCCATCTAGTGGT	0.507000											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	54					0	0	0.001168	0	0
MUC17	140453	broad.mit.edu	37	7	100686813	100686813	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:100686813C>T	ENST00000306151.4	+	3	12180	c.12116C>T	c.(12115-12117)tCt>tTt	p.S4039F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4039						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCTCTACTTCTGTCACCACC	0.532000													8	126					0	0	0.004482	0	0
CFI	3426	broad.mit.edu	37	4	110663747	110663747	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:110663747G>A	ENST00000394634.2	-	12	1641	c.1434C>T	c.(1432-1434)aaC>aaT	p.N478N	CFI_ENST00000512148.1_Silent_p.N471N|CFI_ENST00000394635.3_Silent_p.N486N	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	478	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	p.N478N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AGACTCTTTCGTTATCTAAAC	0.333000													5	49					0	0	0.001168	0	0
CDYL2	124359	broad.mit.edu	37	16	80646658	80646658	+	Silent	SNP	A	A	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:80646658A>C	ENST00000299564.8	-	5	1238	c.1083T>G	c.(1081-1083)ggT>ggG	p.G361G	CDYL2_ENST00000563890.1_Silent_p.G362G|CDYL2_ENST00000562812.1_Silent_p.G362G|CDYL2_ENST00000566173.1_Silent_p.G362G	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	361						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GGATGGAGGCACCCAGGCCCA	0.602000													5	47					0	0	0.001168	0	0
FKBP5	2289	broad.mit.edu	37	6	35543679	35543679	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:35543679C>G	ENST00000536438.1	-	12	1622	c.1307G>C	c.(1306-1308)gGg>gCg	p.G436A	FKBP5_ENST00000540787.1_Missense_Mutation_p.G257A|FKBP5_ENST00000539068.1_Missense_Mutation_p.G436A|FKBP5_ENST00000357266.4_Missense_Mutation_p.G436A	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	436					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						ATTAGTGACCCCTTCTGAAGT	0.448000													39	195					0	0	0.002222	0	0
FAM153B	202134	broad.mit.edu	37	5	175528581	175528581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:175528581G>A	ENST00000253490.4	+	12	718	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Missense_Mutation_p.E144K|FAM153B_ENST00000510151.1_Missense_Mutation_p.E144K			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	221								p.E221K(1)|p.E221*(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CACACTGGCCGAACGTACGTA	0.463000													11	59					0	0	0.002450	0	0
PCED1B	91523	broad.mit.edu	37	12	47629083	47629083	+	Silent	SNP	C	C	T	rs2543738		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:47629083C>T	ENST00000546455.1	+	4	968	c.237C>T	c.(235-237)gtC>gtT	p.V79V	PCED1B_ENST00000432328.1_Silent_p.V79V					PC-esterase domain containing 1B																		ACCGTGAGGTCCGCGAGTTCC	0.587000													4	57					0	0	0.000248	0	0
BSND	7809	broad.mit.edu	37	1	55464876	55464876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:55464876C>T	ENST00000371265.4	+	1	271	c.17C>T	c.(16-18)aCc>aTc	p.T6I		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	6						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GACGAGAAGACCTTCCGGATC	0.617000													6	80					0	0	0.003080	0	0
C2orf16	84226	broad.mit.edu	37	2	27799493	27799493	+	Silent	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:27799493T>C	ENST00000408964.2	+	1	105	c.54T>C	c.(52-54)acT>acC	p.T18T		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	18										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AAGAGTTGACTTCAGGATGGC	0.433000													8	19					0	0	0.004482	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42282377	42282377	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:42282377G>A	ENST00000399518.3	-	14	2013	c.1527C>T	c.(1525-1527)ccC>ccT	p.P509P	PLA2G4E_ENST00000413860.2_Silent_p.P480P|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	497	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AGATGGGCAGGGGGTTCTGGC	0.517000													31	146					0	0	0.002836	0	0
PHKA2	5256	broad.mit.edu	37	X	18969319	18969319	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:18969319G>A	ENST00000379942.4	-	4	1022	c.357C>T	c.(355-357)gcC>gcT	p.A119A		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	119					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.N117fs*38(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGCCACAGGTGGCGGTGTTGT	0.617000													25	24					0	0	0.003954	0	0
ZNF609	23060	broad.mit.edu	37	15	64968435	64968435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:64968435C>T	ENST00000326648.3	+	4	3510	c.3382C>T	c.(3382-3384)Cca>Tca	p.P1128S		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1128						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGAGATGGATCCAATACTCTG	0.507000													7	59					0	0	0.004482	0	0
OR2M5	127059	broad.mit.edu	37	1	248308533	248308533	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248308533C>T	ENST00000366476.1	+	1	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CCTTCCTCTTCTTTCTGGTCC	0.493000													10	215					0	0	0.008291	0	0
SOX6	55553	broad.mit.edu	37	11	16340164	16340164	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:16340164G>A	ENST00000352083.6	-	3	350	c.273C>T	c.(271-273)tcC>tcT	p.S91S	SOX6_ENST00000527619.1_Silent_p.S94S|SOX6_ENST00000528252.1_Silent_p.S91S|SOX6_ENST00000316399.6_Silent_p.S91S|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000528429.1_Silent_p.S91S|SOX6_ENST00000396356.3_Silent_p.S91S			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	91					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TATTTCGGAAGGAATATAGGG	0.393000													8	74					0	0	0.004482	0	0
RBBP4	5928	broad.mit.edu	37	1	33134686	33134686	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:33134686C>T	ENST00000373493.5	+	6	873	c.714C>T	c.(712-714)ctC>ctT	p.L238L	RBBP4_ENST00000373485.1_Silent_p.L238L|RBBP4_ENST00000544435.1_5'UTR|RBBP4_ENST00000524393.1_3'UTR|RBBP4_ENST00000458695.2_Silent_p.L203L|RBBP4_ENST00000414241.3_Silent_p.L237L	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	238					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GGCATCTACTCCATGAGTCTC	0.418000													10	54					0	0	0.001368	0	0
FAM168B	130074	broad.mit.edu	37	2	131812892	131812892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:131812892C>T	ENST00000409185.1	-	5	535	c.428G>A	c.(427-429)gGg>gAg	p.G143E	FAM168B_ENST00000389915.3_Missense_Mutation_p.G143E	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	143										endometrium(3)|lung(2)	5						CATGGTGACCCCGTTGCCTCT	0.632000													8	79					0	0	0.006214	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844973	18844973	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:18844973G>A	ENST00000412938.1	+	0	3223																											AAAGAGCACGGAAATGCAGCG	0.577000													11	47					0	0	0.001368	0	0
GUCY2F	2986	broad.mit.edu	37	X	108619172	108619172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:108619172G>A	ENST00000218006.2	-	19	3574	c.3283C>T	c.(3283-3285)Caa>Taa	p.Q1095*		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1095					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TTTCTTCTTTGGAAGGCTGCA	0.498000													11	56					0	0	0.008291	0	0
ENO1	2023	broad.mit.edu	37	1	8922989	8922989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:8922989G>A	ENST00000234590.4	-	11	1311	c.1192C>T	c.(1192-1194)Cct>Tct	p.P398S		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	398					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GATCGGCAAGGGGCACCAGTC	0.562000											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	12					0	0	0.000248	0	0
SLC22A12	116085	broad.mit.edu	37	11	64366372	64366372	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:64366372G>A	ENST00000377574.1	+	6	1794	c.1047G>A	c.(1045-1047)cgG>cgA	p.R349R	SLC22A12_ENST00000336464.7_Silent_p.R315R|SLC22A12_ENST00000377572.1_Silent_p.R241R|SLC22A12_ENST00000473690.1_Silent_p.R128R|SLC22A12_ENST00000377567.2_Silent_p.R241R	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	349					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						TGCGCTTCCGGACCTGTATCT	0.667000													6	25					0	0	0.001168	0	0
NDST4	64579	broad.mit.edu	37	4	115891729	115891729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:115891729C>T	ENST00000264363.2	-	4	1756	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	360	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.E360*(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCTTCATCTTCCTCTTCAGTC	0.373000													5	22					0	0	0.000602	0	0
TRAF1	7185	broad.mit.edu	37	9	123673706	123673706	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:123673706G>A	ENST00000373887.3	-	6	3236	c.791C>T	c.(790-792)tCc>tTc	p.S264F	TRAF1_ENST00000546084.1_Missense_Mutation_p.S142F|TRAF1_ENST00000540010.1_Missense_Mutation_p.S264F	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	264					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						GCCATCGAAGGAGGCCTCCTC	0.612000													7	30					0	0	0.001984	0	0
NOS1	4842	broad.mit.edu	37	12	117768363	117768363	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:117768363G>A	ENST00000317775.6	-	2	1197	c.512C>T	c.(511-513)tCa>tTa	p.S171L	NOS1_ENST00000344089.3_Missense_Mutation_p.S171L|NOS1_ENST00000338101.4_Missense_Mutation_p.S171L	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	171	Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATGGGGGAGTGAGCCAGCCTC	0.667000													10	67					0	0	0.006214	0	0
MAP1A	4130	broad.mit.edu	37	15	43821450	43821450	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:43821450G>A	ENST00000382031.1	+	5	8524	c.8493G>A	c.(8491-8493)gaG>gaA	p.E2831E	MAP1A_ENST00000300231.5_Silent_p.E2593E|MAP1A_ENST00000399453.1_Silent_p.E2593E			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2593						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGAGAGTAGAGAGGCTACGGG	0.667000													5	35					0	0	0.000602	0	0
CADPS	8618	broad.mit.edu	37	3	62518605	62518605	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:62518605G>A	ENST00000383710.4	-	13	2581	c.2232C>T	c.(2230-2232)atC>atT	p.I744I	CADPS_ENST00000357948.3_Silent_p.I727I|CADPS_ENST00000283269.9_Silent_p.I744I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	744					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.I744I(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGGTGGGGTCGATCATGGCGC	0.517000													6	49					0	0	0.001168	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54649091	54649091	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:54649091C>T	ENST00000230640.5	+	14	1781	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	SKIV2L2_ENST00000545714.1_Silent_p.F408F	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	509	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GGAAGGATTTCCGATGGGTAA	0.358000													6	49					0	0	0.001168	0	0
ITGAL	3683	broad.mit.edu	37	16	30532878	30532878	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:30532878C>T	ENST00000356798.6	+	31	3585	c.3405C>T	c.(3403-3405)atC>atT	p.I1135I	ITGAL_ENST00000433423.2_Silent_p.I369I|ITGAL_ENST00000358164.5_Silent_p.I1051I	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1135					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CGAATGGAATCCCTGCAGAAG	0.532000													8	48					0	0	0.004482	0	0
KCNIP3	30818	broad.mit.edu	37	2	96040071	96040071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:96040071C>T	ENST00000295225.5	+	3	344	c.209C>T	c.(208-210)tCc>tTc	p.S70F	KCNIP3_ENST00000360990.3_Missense_Mutation_p.S70F|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000468529.1_Missense_Mutation_p.S44F	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	70	EF-hand 1; degenerate.				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity	p.S70C(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		CTGGAGCTGTCCACGGTGCGC	0.597000													4	37					0	0	0.000248	0	0
HEATR4	399671	broad.mit.edu	37	14	73985814	73985814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:73985814C>T	ENST00000553558.1	-	5	1444	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K	RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000334988.2_Missense_Mutation_p.E375K|HEATR4_ENST00000560393.1_Missense_Mutation_p.E328K	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TTTAGGTTTTCCAGGACAATC	0.453000													11	52					0	0	0.001368	0	0
C1orf87	127795	broad.mit.edu	37	1	60538282	60538282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:60538282C>T	ENST00000371201.3	-	2	141	c.34G>A	c.(34-36)Gat>Aat	p.D12N	C1orf87_ENST00000450089.2_Missense_Mutation_p.D12N	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	12							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCATTGCATCTGATCCACGG	0.393000													7	77					0	0	0.004482	0	0
MFHAS1	9258	broad.mit.edu	37	8	8748267	8748267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:8748267G>A	ENST00000276282.6	-	1	2888	c.2302C>T	c.(2302-2304)Ccg>Tcg	p.P768S		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	768										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GCCATGGGCGGGGAGCTTTCC	0.617000													4	30					0	0	0.000602	0	0
PPCS	79717	broad.mit.edu	37	1	42922612	42922612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:42922612C>T	ENST00000372561.3	+	1	383	c.376C>T	c.(376-378)Ccg>Tcg	p.P126S	PPCS_ENST00000372562.1_Intron|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372556.3_Intron|PPCS_ENST00000455780.1_Intron|PPCS_ENST00000372560.3_Missense_Mutation_p.P126S	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	126					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAATGCACTTCCGGGTTTTGC	0.622000													5	81					0	0	0.000602	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543404	182543404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:182543404C>T	ENST00000295108.3	-	2	641	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	62	Glu-rich (acidic).				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.E62K(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			tcctcatcttcgtcctcctcc	0.552000													76	230					0	0	0.003610	0	0
KBTBD7	84078	broad.mit.edu	37	13	41767060	41767060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:41767060G>A	ENST00000379483.3	-	1	1642	c.1334C>T	c.(1333-1335)cCt>cTt	p.P445L		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	445							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TCCAGTAATAGGGTCTCGTCC	0.478000													18	74					0	0	0.008871	0	0
FHL5	9457	broad.mit.edu	37	6	97051592	97051592	+	Missense_Mutation	SNP	C	C	T	rs138154376		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:97051592C>T	ENST00000326771.2	+	3	483	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	FHL5_ENST00000541107.1_Missense_Mutation_p.R35C	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	35			R -> H (in dbSNP:rs35157931).			nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		ATGTTATGATCGTGTATTTTC	0.368000													9	64					0	0	0.006214	0	0
CUBN	8029	broad.mit.edu	37	10	17085901	17085901	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:17085901C>T	ENST00000377833.4	-	26	3819	c.3754G>A	c.(3754-3756)Gga>Aga	p.G1252R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1252	CUB 7.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGCTGTCTCCACTAGAACGA	0.438000													7	90					0	0	0.001984	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374826	8374826	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:8374826C>T	ENST00000538603.1	-	7	1545	c.987G>A	c.(985-987)gaG>gaA	p.E329E	FAM90A1_ENST00000307435.6_Silent_p.E329E	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	329							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GTTGGAGATTCTCCGGGGCCC	0.647000													4	11					0	0	0.000248	0	0
PSAT1	29968	broad.mit.edu	37	9	80921376	80921376	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:80921376C>A	ENST00000376588.3	+	5	612	c.544C>A	c.(544-546)Ctg>Atg	p.L182M	PSAT1_ENST00000347159.2_Missense_Mutation_p.L182M	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	182					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	CTCAAACTTCCTGTCCAAGCC	0.468000													7	256					0.00448238	0.00504891	0.004482	1	0
NUTM1	256646	broad.mit.edu	37	15	34647863	34647863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:34647863G>A	ENST00000537011.1	+	8	2036	c.1654G>A	c.(1654-1656)Gga>Aga	p.G552R	NUTM1_ENST00000333756.4_Missense_Mutation_p.G524R|NUTM1_ENST00000438749.3_Missense_Mutation_p.G542R					NUT midline carcinoma, family member 1																		CGCTTGCCTTGGAAAGGTTTC	0.587000													8	81					0	0	0.003080	0	0
IGHV1-58	28464	broad.mit.edu	37	14	107078658	107078658	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:107078658C>T	ENST00000390628.2	-	0	126																											ACTGCACCAGCTGCATTTGGG	0.557000													10	29					0	0	0.000978	0	0
HEATR3	55027	broad.mit.edu	37	16	50136230	50136230	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:50136230G>A	ENST00000299192.7	+	14	1995	c.1804G>A	c.(1804-1806)Gaa>Aaa	p.E602K	HEATR3_ENST00000285767.4_Missense_Mutation_p.E516K|RP11-429P3.5_ENST00000566770.1_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	602							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GGTAGCAGGAGAAGCTTTGGA	0.408000													12	71					0	0	0.001855	0	0
FANCE	2178	broad.mit.edu	37	6	35428335	35428335	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:35428335C>T	ENST00000229769.2	+	8	1508	c.1323C>T	c.(1321-1323)atC>atT	p.I441I		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	441					DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						GCAGACAGATCTTGGAGCTGC	0.572000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	42					0	0	0.001168	0	0
RELN	5649	broad.mit.edu	37	7	103270438	103270438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:103270438C>T	ENST00000428762.1	-	20	2810	c.2651G>A	c.(2650-2652)gGa>gAa	p.G884E	RELN_ENST00000343529.5_Missense_Mutation_p.G884E|RELN_ENST00000424685.2_Missense_Mutation_p.G884E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	884					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.G884A(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGGTAGAATCCCAGAGACTG	0.403000													5	69					0	0	0.001168	0	0
ZNF768	79724	broad.mit.edu	37	16	30536709	30536709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:30536709C>T	ENST00000380412.5	-	2	927	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	ZNF768_ENST00000562803.1_Missense_Mutation_p.R220Q	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	251					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ACCCCTGGCCCGGCCACCCCG	0.667000													6	29					0	0	0.001984	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64748012	64748012	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:64748012C>T	ENST00000536360.1	-	6	1688	c.875G>A	c.(874-876)gGa>gAa	p.G292E				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	292	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CACAACGTTTCCTAGGCTGGA	0.353000													6	35					0	0	0.006214	0	0
C3orf72	401089	broad.mit.edu	37	3	138668410	138668410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:138668410G>A	ENST00000383165.3	+	2	280	c.149G>A	c.(148-150)gGa>gAa	p.G50E		NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	50										large_intestine(1)|lung(3)	4						TGCACCCTGGGAAGGGCTGGA	0.542000													9	20					0	0	0.004482	0	0
SPRR3	6707	broad.mit.edu	37	1	152975587	152975587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:152975587G>A	ENST00000331860.3	+	3	241	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	SPRR3_ENST00000295367.4_Missense_Mutation_p.E31K|SPRR3_ENST00000542696.1_Missense_Mutation_p.E31K	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	31					keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCACCTCAGGAAATATTTGT	0.522000													6	33					0	0	0.001984	0	0
PPP3R2	5535	broad.mit.edu	37	9	104356976	104356976	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:104356976G>A	ENST00000374806.1	-	1	307	c.237C>T	c.(235-237)atC>atT	p.I79I	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	76	EF-hand 2.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	AGGTCCCCAGGATGAATTCCT	0.552000													9	62					0	0	0.006214	0	0
LPXN	9404	broad.mit.edu	37	11	58295563	58295563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:58295563G>A	ENST00000528954.1	-	8	978	c.859C>T	c.(859-861)Ctt>Ttt	p.L287F	LPXN_ENST00000528489.1_Missense_Mutation_p.L262F|LPXN_ENST00000395074.2_Missense_Mutation_p.L282F	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	282	LIM zinc-binding 3.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ATGGCTGAAAGGTAGTTTTCC	0.473000													17	69					0	0	0.001523	0	0
TRERF1	55809	broad.mit.edu	37	6	42227387	42227387	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:42227387C>T	ENST00000541110.1	-	9	2587	c.2019G>A	c.(2017-2019)aaG>aaA	p.K673K	TRERF1_ENST00000340840.2_Silent_p.K570K|TRERF1_ENST00000372922.4_Silent_p.K653K|TRERF1_ENST00000372917.4_Silent_p.K570K|TRERF1_ENST00000354325.2_Silent_p.K570K			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	653	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGTGCCGGAACTTTTTCTTCT	0.617000													14	65					0	0	0.003163	0	0
SPTA1	6708	broad.mit.edu	37	1	158590058	158590058	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158590058G>A	ENST00000368148.3	-	44	6499	c.6319C>T	c.(6319-6321)Cag>Tag	p.Q2107*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.Q2104*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2107					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTAATCTGCTGGTCTAGCTCC	0.507000													5	64					0	0	0.001168	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443584	5443584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:5443584C>T	ENST00000300778.4	+	1	244	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTGTCATTCGCACAGAGCC	0.562000													28	117					0	0	0.003755	0	0
LIPG	9388	broad.mit.edu	37	18	47101748	47101748	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:47101748C>A	ENST00000261292.4	+	5	859	c.581C>A	c.(580-582)cCt>cAt	p.P194H	LIPG_ENST00000577628.1_Missense_Mutation_p.P230H|LIPG_ENST00000580036.1_Missense_Mutation_p.P194H|LIPG_ENST00000427224.2_Intron	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	194					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GGTTTGGATCCTGCCGGGCCC	0.552000													5	20					5.9392e-07	6.72937e-07	0.001168	1	0
EPB41L1	2036	broad.mit.edu	37	20	34785879	34785879	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:34785879G>A	ENST00000338074.2	+	14	1745	c.1584G>A	c.(1582-1584)cgG>cgA	p.R528R	EPB41L1_ENST00000373946.3_Silent_p.R485R|EPB41L1_ENST00000373950.2_Silent_p.R419R|EPB41L1_ENST00000441639.1_Silent_p.R454R|EPB41L1_ENST00000202028.5_Silent_p.R454R|EPB41L1_ENST00000373941.1_Silent_p.R528R	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	528	Spectrin--actin-binding.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TCATCCACCGGGATCGAGACT	0.597000													4	39					0	0	0.000248	0	0
HYDIN	54768	broad.mit.edu	37	16	71212846	71212846	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:71212846C>T	ENST00000393567.2	-	4	516	c.366G>A	c.(364-366)ttG>ttA	p.L122L	HYDIN_ENST00000321489.5_Silent_p.L122L|HYDIN_ENST00000538248.1_Silent_p.L149L|HYDIN_ENST00000448691.1_Silent_p.L122L|HYDIN_ENST00000288168.10_Silent_p.L139L|HYDIN_ENST00000541601.1_Silent_p.L139L|HYDIN_ENST00000448089.2_Silent_p.L122L|HYDIN_ENST00000393550.2_Silent_p.L122L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	122										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CATTGTTCCTCAAAATCAGTG	0.403000													8	90					0	0	0.004482	0	0
BUD13	84811	broad.mit.edu	37	11	116633693	116633693	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:116633693C>A	ENST00000260210.4	-	4	635	c.612G>T	c.(610-612)agG>agT	p.R204S	BUD13_ENST00000375445.3_Missense_Mutation_p.R204S	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	204	Arg-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GCTGAGGCCTCCTTGGGGGAG	0.552000													53	229					1.83081e-24	2.08215e-24	0.003610	1	0
SRL	6345	broad.mit.edu	37	16	4242775	4242775	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:4242775C>T	ENST00000399609.3	-	6	813	c.801G>A	c.(799-801)cgG>cgA	p.R267R	SRL_ENST00000537996.1_Silent_p.R225R	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	726	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						CCCCGTAAACCCGCATGAGCA	0.552000													5	60					0	0	0.000602	0	0
MAPK14	1432	broad.mit.edu	37	6	36020501	36020501	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:36020501T>A	ENST00000229795.3	+	2	589	c.142T>A	c.(142-144)Tta>Ata	p.L48I	MAPK14_ENST00000468133.1_5'UTR|MAPK14_ENST00000310795.4_Missense_Mutation_p.L48I|MAPK14_ENST00000229794.4_Missense_Mutation_p.L48I	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	48	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						AAAAACGGGGTTACGTGTGGC	0.383000													7	73					0	0	0.006214	0	0
CTNND2	1501	broad.mit.edu	37	5	11159743	11159743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:11159743G>A	ENST00000304623.8	-	12	2293	c.2104C>T	c.(2104-2106)Cgg>Tgg	p.R702W	CTNND2_ENST00000503622.1_Missense_Mutation_p.R365W|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.R702W|CTNND2_ENST00000458100.2_Missense_Mutation_p.R269W|CTNND2_ENST00000511377.1_Missense_Mutation_p.R611W	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	702					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGTATTTTCCGATCATCCTGA	0.547000													8	60					0	0	0.006214	0	0
THOC7	80145	broad.mit.edu	37	3	63823658	63823658	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:63823658G>A	ENST00000295899.5	-	4	458	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C	THOC7_ENST00000498422.1_5'UTR|C3orf49_ENST00000295896.8_Intron	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)	116	Interaction with NIF3L1.|Interaction with THOC5.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		TTACCTTGGCGATTTTTTCGT	0.348000													11	53					0	0	0.000978	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509130	106509130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:106509130G>A	ENST00000359195.3	+	2	1434	c.1124G>A	c.(1123-1125)cGg>cAg	p.R375Q	PIK3CG_ENST00000440650.2_Missense_Mutation_p.R375Q|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R375Q	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	375					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTCCTGCCTCGGAACACCGAC	0.557000													11	46					0	0	0.001368	0	0
PLXNA1	5361	broad.mit.edu	37	3	126708364	126708364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:126708364C>T	ENST00000393409.2	+	1	928	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R287C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	310	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGTGGAGTACCGCCTGGTGCA	0.637000													14	133					0	0	0.004007	0	0
ANO3	63982	broad.mit.edu	37	11	26620468	26620468	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:26620468G>A	ENST00000256737.3	+	16	2446	c.1594G>A	c.(1594-1596)Gga>Aga	p.G532R	ANO3_ENST00000531568.1_Missense_Mutation_p.G386R|ANO3_ENST00000525139.1_Missense_Mutation_p.G516R|ANO3_ENST00000537978.1_Missense_Mutation_p.G516R	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	532						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCCCATCACGGGAAAACCTGA	0.403000													8	21					0	0	0.006214	0	0
KIAA0319	9856	broad.mit.edu	37	6	24581231	24581231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:24581231C>T	ENST00000535378.1	-	8	1817	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E	KIAA0319_ENST00000430948.2_Missense_Mutation_p.G356E|KIAA0319_ENST00000378214.3_Missense_Mutation_p.G401E|KIAA0319_ENST00000537886.1_Missense_Mutation_p.G401E|KIAA0319_ENST00000543707.1_Missense_Mutation_p.G401E	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	401	PKD 1.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GACATAAAGTCCGACGGACAA	0.428000											OREG0017229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	68					0	0	0.003954	0	0
MAOB	4129	broad.mit.edu	37	X	43634452	43634452	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:43634452A>G	ENST00000378069.4	-	12	1352	c.1205T>C	c.(1204-1206)tTc>tCc	p.F402S	MAOB_ENST00000536181.1_Missense_Mutation_p.F386S|MAOB_ENST00000538942.1_Intron	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	402					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	CCCAGGGGGGAAATAAGTTGT	0.448000													5	4					0	0	0.001168	0	0
OR2G2	81470	broad.mit.edu	37	1	247751793	247751793	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:247751793G>A	ENST00000320065.1	+	1	132	c.132G>A	c.(130-132)ggG>ggA	p.G44G	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTATTTTGGGGAATACCACCA	0.408000													11	127					0	0	0.001368	0	0
CLDN9	9080	broad.mit.edu	37	16	3063921	3063921	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:3063921C>T	ENST00000445369.2	+	1	1465	c.558C>T	c.(556-558)ccC>ccT	p.P186P		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	186					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						GCACGTGCCCCCCGCCCCAGG	0.721000													6	47					0	0	0.001168	0	0
TERT	7015	broad.mit.edu	37	5	1255502	1255502	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:1255502G>A	ENST00000310581.5	-	14	3114	c.3057C>T	c.(3055-3057)ctC>ctT	p.L1019L	TERT_ENST00000334602.6_Silent_p.L956L|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1019	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GATGAAATGGGAGCTGCAGCA	0.567000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				8	25					0	0	0.006214	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8219387	8219387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:8219387C>T	ENST00000361926.3	+	9	1735	c.1625C>T	c.(1624-1626)cCt>cTt	p.P542L	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P542L	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	542	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CAGAGCCTCCCTAAGTGTGAG	0.687000													5	10					0	0	0.000602	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58190186	58190186	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:58190186C>T	ENST00000318203.5	+	5	1912	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	405					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGACAAGCTACCGCCAGTCAT	0.478000													21	75					0	0	0.001882	0	0
FERMT1	55612	broad.mit.edu	37	20	6093246	6093246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:6093246G>A	ENST00000217289.4	-	4	1198	c.410C>T	c.(409-411)tCc>tTc	p.S137F	FERMT1_ENST00000536936.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	137	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CTTTAACAAGGAAAGCTCTTC	0.299000													9	46					0	0	0.006214	0	0
TPO	7173	broad.mit.edu	37	2	1488624	1488624	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:1488624G>A	ENST00000345913.4	+	9	1686	c.1595G>A	c.(1594-1596)gGa>gAa	p.G532E	TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Missense_Mutation_p.G532E|TPO_ENST00000382201.3_Missense_Mutation_p.G532E|TPO_ENST00000337415.3_Missense_Mutation_p.G532E|TPO_ENST00000382198.1_Missense_Mutation_p.G359E|TPO_ENST00000349624.3_Missense_Mutation_p.G359E|TPO_ENST00000329066.4_Missense_Mutation_p.G532E	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	532					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTACTCCGTGGAGGTGAGTGA	0.527000													4	28					0	0	0.000602	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389491	150389491	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:150389491G>A	ENST00000223293.5	+	3	211	c.117G>A	c.(115-117)ggG>ggA	p.G39G		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	39						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGCTGCAGGGAACAGCATCC	0.512000													9	25					0	0	0.004482	0	0
NDUFAF7	55471	broad.mit.edu	37	2	37468928	37468928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:37468928C>T	ENST00000002125.4	+	5	656	c.616C>T	c.(616-618)Cca>Tca	p.P206S	NDUFAF7_ENST00000336237.6_Intron|NDUFAF7_ENST00000483999.1_3'UTR	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7																		GCACGATGTTCCAAAAGGTAA	0.398000													6	31					0	0	0.001168	0	0
GBP1	2633	broad.mit.edu	37	1	89528828	89528828	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:89528828G>A	ENST00000370473.4	-	2	309	c.90C>T	c.(88-90)atC>atT	p.I30I		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	30					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TGGCAGAAAGGATCTTCAGAG	0.512000													17	79					0	0	0.004990	0	0
CYP46A1	10858	broad.mit.edu	37	14	100182517	100182517	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:100182517C>T	ENST00000554176.1	+	4	1095	c.429C>T	c.(427-429)ttC>ttT	p.F143F	CYP46A1_ENST00000423126.2_Silent_p.F199F|CYP46A1_ENST00000261835.3_Silent_p.F296F			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	296					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TGGACAACTTCGTCACCTTCT	0.542000													5	54					0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9083586	9083586	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:9083586C>T	ENST00000397910.4	-	1	8432	c.8229G>A	c.(8227-8229)tcG>tcA	p.S2743S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2743	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCACTGTGATCGAACCTTCAT	0.463000													6	76					0	0	0.001168	0	0
RNASEL	6041	broad.mit.edu	37	1	182551267	182551267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:182551267G>A	ENST00000367559.3	-	4	1946	c.1693C>T	c.(1693-1695)Cgt>Tgt	p.R565C	RNASEL_ENST00000444138.1_Missense_Mutation_p.R565C|RNASEL_ENST00000539397.1_Missense_Mutation_p.R565C	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	565	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TGGAAGAGACGATGAATGAgg	0.458000													30	84					0	0	0.001786	0	0
CYTH3	9265	broad.mit.edu	37	7	6213339	6213339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:6213339G>A	ENST00000350796.3	-	6	530	c.394C>T	c.(394-396)Caa>Taa	p.Q132*		NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	132	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						ACAAAGGCTTGAAGAACTTTA	0.373000													13	33					0	0	0.001368	0	0
CATSPERB	79820	broad.mit.edu	37	14	92055929	92055929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:92055929G>A	ENST00000256343.3	-	24	3061	c.2905C>T	c.(2905-2907)Cca>Tca	p.P969S		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	969					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ACCAGATATGGAGATTGCAAT	0.363000													7	49					0	0	0.008291	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39178162	39178162	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:39178162A>T	ENST00000297668.6	-	5	807	c.734T>A	c.(733-735)cTt>cAt	p.L245H	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.L245H|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.L245H|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.L245H|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.L157H	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	245	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACCTGAATTAAGAAAAAAGAC	0.303000													5	70					0	0	0.000602	0	0
OASL	8638	broad.mit.edu	37	12	121465506	121465506	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:121465506C>T	ENST00000257570.5	-	4	1042	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	OASL_ENST00000339275.5_Intron	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	258					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTGAAGCCTTCGTCCAACATG	0.478000													58	369					0	0	0.003610	0	0
GH2	2689	broad.mit.edu	37	17	61958427	61958427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:61958427G>A	ENST00000332800.7	-	3	386	c.253C>T	c.(253-255)Cca>Tca	p.P85S	GH2_ENST00000456543.2_Missense_Mutation_p.P85S|GH2_ENST00000449787.2_Missense_Mutation_p.P70S|GH2_ENST00000423893.2_Missense_Mutation_p.P85S	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	85						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GAAGGTGTTGGAATAGACTCT	0.552000													52	147					0	0	0.003610	0	0
DNAH11	8701	broad.mit.edu	37	7	21657383	21657383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:21657383G>A	ENST00000328843.6	+	23	4288	c.4257G>A	c.(4255-4257)atG>atA	p.M1419I	DNAH11_ENST00000409508.3_Missense_Mutation_p.M1414I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1419	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACCAGCTGATGAAAGCTATTG	0.488000									Kartagener syndrome				4	29					0	0	0.000602	0	0
IPO11	51194	broad.mit.edu	37	5	61802166	61802166	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:61802166C>T	ENST00000325324.6	+	19	1933	c.1764C>T	c.(1762-1764)atC>atT	p.I588I	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Silent_p.I628I	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	588						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CTTGTGTGATCGAAAGAGTCA	0.348000													5	32					0	0	0.000602	0	0
NPAS2	4862	broad.mit.edu	37	2	101611915	101611915	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:101611915C>T	ENST00000335681.5	+	21	2631	c.2346C>T	c.(2344-2346)tcC>tcT	p.S782S	NPAS2_ENST00000542504.1_Silent_p.S847S|AC016738.4_ENST00000452364.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	782					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TACTTCTCTCCACCTACTCAC	0.577000													6	92					0	0	0.001168	0	0
DNAH2	146754	broad.mit.edu	37	17	7662354	7662354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:7662354C>T	ENST00000572933.1	+	15	3820	c.2360C>T	c.(2359-2361)gCt>gTt	p.A787V	DNAH2_ENST00000389173.2_Missense_Mutation_p.A787V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	787	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CATCGGGCAGCTGTACAGCAG	0.507000													4	21					0	0	0.000248	0	0
LONRF3	79836	broad.mit.edu	37	X	118148314	118148314	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:118148314C>T	ENST00000365713.2	+	9	2159	c.1996C>T	c.(1996-1998)Cct>Tct	p.P666S	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Missense_Mutation_p.P707S|LONRF3_ENST00000304778.7_Missense_Mutation_p.P666S|LONRF3_ENST00000422289.2_Missense_Mutation_p.P451S			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	707	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						AGACGCCGATCCTCAGGTATA	0.433000													4	31					0	0	0.000248	0	0
A2M	2	broad.mit.edu	37	12	9243046	9243046	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:9243046G>A	ENST00000318602.7	-	20	2809	c.2502C>T	c.(2500-2502)ttC>ttT	p.F834F		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	834					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GGACAGCTAGGAAGGCGGGAG	0.532000													7	84					0	0	0.001984	0	0
RNF20	56254	broad.mit.edu	37	9	104312959	104312959	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:104312959C>T	ENST00000389120.3	+	10	1254	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	388					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AGTCACAGTTCTCCGTCTTGT	0.522000													8	113					0	0	0.003080	0	0
CACNA1E	777	broad.mit.edu	37	1	181686317	181686317	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:181686317C>T	ENST00000526775.1	+	11	1569	c.1404C>T	c.(1402-1404)tcC>tcT	p.S468S	CACNA1E_ENST00000367573.2_Silent_p.S468S|CACNA1E_ENST00000357570.5_Silent_p.S419S|CACNA1E_ENST00000367567.4_Silent_p.S75S|CACNA1E_ENST00000358338.5_Silent_p.S419S|CACNA1E_ENST00000367570.1_Silent_p.S468S|CACNA1E_ENST00000360108.3_Silent_p.S468S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	468					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGCGCATCTCCATTCGCCACA	0.532000													11	75					0	0	0.001368	0	0
SFRP5	6425	broad.mit.edu	37	10	99527511	99527511	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:99527511C>T	ENST00000266066.3	-	3	832	c.714G>A	c.(712-714)aaG>aaA	p.K238K		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	238	NTR.				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		GCTTGGTGTCCTTGCGCTTCA	0.602000													6	53					0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9088521	9088521	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:9088521C>T	ENST00000397910.4	-	1	3497	c.3294G>A	c.(3292-3294)agG>agA	p.R1098R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1098	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTGGCTTGTCCTTCCTGGAG	0.433000													5	53					0	0	0.003080	0	0
RGPD3	653489	broad.mit.edu	37	2	107041458	107041458	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:107041458T>C	ENST00000409886.3	-	20	3052	c.2965A>G	c.(2965-2967)Aaa>Gaa	p.K989E	RGPD3_ENST00000304514.7_Missense_Mutation_p.K989E	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	989					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTGAGGTCTTTTTTGCCAAAC	0.393000													12	141					0	0	0.001855	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857343	9857343	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:9857343C>T	ENST00000396573.2	-	14	4367	c.4058G>A	c.(4057-4059)aGg>aAg	p.R1353K	GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1353K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1353K|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1353					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGACTTGCTCCTCTTGCTGTC	0.542000													11	35					0	0	0.008291	0	0
GNB5	10681	broad.mit.edu	37	15	52418213	52418213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:52418213C>T	ENST00000261837.7	-	11	1006	c.941G>A	c.(940-942)aGg>aAg	p.R314K	GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000396335.4_Missense_Mutation_p.R202K|GNB5_ENST00000358784.7_Missense_Mutation_p.R272K|CTD-2184D3.7_ENST00000557898.1_RNA	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	314						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GGCAACCTCCCTATCTGCCCG	0.458000													5	13					0	0	0.001984	0	0
TRPM2	7226	broad.mit.edu	37	21	45810858	45810858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:45810858C>T	ENST00000397928.1	+	10	1835	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	TRPM2_ENST00000397932.2_Missense_Mutation_p.R464C|TRPM2_ENST00000300481.9_Missense_Mutation_p.R464C|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.R464C	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	464						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGCATGGAATCGCGTGGACAT	0.577000													10	61					0	0	0.000978	0	0
DUSP26	78986	broad.mit.edu	37	8	33454892	33454892	+	Silent	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:33454892A>G	ENST00000256261.4	-	2	659	c.142T>C	c.(142-144)Ttg>Ctg	p.L48L	DUSP26_ENST00000523956.1_Silent_p.L48L	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	48						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		AGCCGCTCCAACTCGAAGACA	0.582000													5	29					0	0	0.000602	0	0
EFEMP1	2202	broad.mit.edu	37	2	56149495	56149495	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:56149495C>T	ENST00000394555.2	-	2	516	c.81_splice	c.e2+1	p.T27_splice	EFEMP1_ENST00000355426.3_Splice_Site_p.T27_splice|EFEMP1_ENST00000424836.2_5'UTR|EFEMP1_ENST00000394554.1_Splice_Site_p.T27_splice	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	27	EGF-like 1; atypical.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CACCCCTTACCGTGTACGTGA	0.443000													9	71					0	0	0.006214	0	0
PCSK5	5125	broad.mit.edu	37	9	78547359	78547359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:78547359C>T	ENST00000545128.1	+	2	795	c.257C>T	c.(256-258)tCg>tTg	p.S86L	PCSK5_ENST00000376752.4_Missense_Mutation_p.S86L|PCSK5_ENST00000376767.3_Missense_Mutation_p.S86L	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	86					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.S86*(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCAGTTATCTCGAGCAGAGGG	0.453000													8	49					0	0	0.004482	0	0
TAAR2	9287	broad.mit.edu	37	6	132938398	132938398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:132938398C>T	ENST00000275191.2	-	1	919	c.812G>A	c.(811-813)gGt>gAt	p.G271D	TAAR2_ENST00000537809.1_Missense_Mutation_p.G271D|TAAR2_ENST00000367931.1_Missense_Mutation_p.G316D	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	316						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		ATAGAAGAAACCATATATTAA	0.348000													9	11					0	0	0.008291	0	0
PROKR2	128674	broad.mit.edu	37	20	5282926	5282926	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:5282926G>A	ENST00000546004.1	-	3	1161	c.915C>T	c.(913-915)ttC>ttT	p.F305F	PROKR2_ENST00000217270.3_Silent_p.F305F			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	305						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TTTCCTTCACGAACACAGTGG	0.537000										HNSCC(71;0.22)			9	47					0	0	0.004482	0	0
HSPA12B	116835	broad.mit.edu	37	20	3728884	3728884	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:3728884G>A	ENST00000254963.2	+	8	841	c.696G>A	c.(694-696)gaG>gaA	p.E232E	HSPA12B_ENST00000542646.1_Silent_p.E66E	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	232							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						TGTCCCGAGAGAATGCAGAGC	0.662000													17	48					0	0	0.007413	0	0
SVEP1	79987	broad.mit.edu	37	9	113231315	113231315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:113231315G>A	ENST00000401783.2	-	17	3401	c.3065C>T	c.(3064-3066)tCc>tTc	p.S1022F	SVEP1_ENST00000302728.8_Missense_Mutation_p.S1022F|SVEP1_ENST00000374469.1_Missense_Mutation_p.S999F|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1022					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATCTTGATAGGATCCGATCCG	0.413000													13	55					0	0	0.002450	0	0
ABCA5	23461	broad.mit.edu	37	17	67247981	67247981	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:67247981T>C	ENST00000392676.3	-	35	4506	c.4442A>G	c.(4441-4443)aAc>aGc	p.N1481S	ABCA5_ENST00000392677.2_Missense_Mutation_p.N1482S|ABCA5_ENST00000588877.1_Missense_Mutation_p.N1481S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1481	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CCGCTTTCTGTTTTTAAATGC	0.388000													3	36					0	0	0.004672	0	0
LINC00842	643650	broad.mit.edu	37	10	47133310	47133310	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:47133310C>T	ENST00000422732.2	-	0	435					NR_033957.1																						TGGCTCTCCTCTCCTGCTAAG	0.483000													5	30					0	0	0.001168	0	0
PDE6C	5146	broad.mit.edu	37	10	95400221	95400221	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:95400221G>A	ENST00000371447.3	+	13	1782	c.1644G>A	c.(1642-1644)tgG>tgA	p.W548*		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	548					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTACCAGATGGATGTACACTG	0.428000													8	74					0	0	0.004482	0	0
ROS1	6098	broad.mit.edu	37	6	117622146	117622146	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:117622146T>A	ENST00000368508.3	-	42	6922	c.6724A>T	c.(6724-6726)Agc>Tgc	p.S2242C	ROS1_ENST00000368507.3_Missense_Mutation_p.S2236C	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2242					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCTTCAAAGCTTTCATTTATG	0.333000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								8	25					0	0	0.003080	0	0
OR11H4	390442	broad.mit.edu	37	14	20711877	20711877	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:20711877C>T	ENST00000315409.2	+	1	980	c.927C>T	c.(925-927)ctC>ctT	p.L309L		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ACATGAAACTCGCTCTGAGAA	0.393000													5	57					0	0	0.001168	0	0
WDR72	256764	broad.mit.edu	37	15	53889321	53889321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:53889321C>T	ENST00000396328.1	-	18	3342	c.3103G>A	c.(3103-3105)Gaa>Aaa	p.E1035K	WDR72_ENST00000559418.1_Missense_Mutation_p.E1045K|WDR72_ENST00000557913.1_Missense_Mutation_p.E1032K|WDR72_ENST00000360509.5_Missense_Mutation_p.E1035K	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1035										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCTAGTTCTTCTGTCCATTCC	0.393000													16	135					0	0	0.004990	0	0
PRB3	5544	broad.mit.edu	37	12	11420611	11420611	+	RNA	SNP	C	C	T	rs71057717		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:11420611C>T	ENST00000381842.3	-	0	609				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGACTGGTTTCCTCCTTGTGG	0.637000													7	233					0	0	0.001855	0	0
SMCR8	140775	broad.mit.edu	37	17	18219178	18219178	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:18219178C>T	ENST00000406438.3	+	1	555	c.75C>T	c.(73-75)gcC>gcT	p.A25A		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	25										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ATGAGCCGGCCCTGCCTGAGG	0.522000													5	45					0	0	0.000602	0	0
RFX3	5991	broad.mit.edu	37	9	3270456	3270456	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:3270456G>A	ENST00000382004.3	-	12	1583	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	RFX3_ENST00000302303.1_Silent_p.I424I|RFX3_ENST00000358730.2_Silent_p.I424I	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	424					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TCCATTTCAGGATAGACTCAT	0.418000													6	28					0	0	0.001984	0	0
IGSF11	152404	broad.mit.edu	37	3	118645011	118645011	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:118645011G>A	ENST00000354673.2	-	6	894	c.514C>T	c.(514-516)Cga>Tga	p.R172*	IGSF11_ENST00000425327.2_Nonsense_Mutation_p.R172*|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000393775.2_Nonsense_Mutation_p.R173*|IGSF11_ENST00000441144.2_Nonsense_Mutation_p.R172*|IGSF11_ENST00000489689.1_Nonsense_Mutation_p.R173*|IGSF11_ENST00000491903.1_Nonsense_Mutation_p.R173*	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	173	Ig-like C2-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAAGTTGGTCGAGGAATGCCT	0.468000													4	45					0	0	0.000602	0	0
FTL	2512	broad.mit.edu	37	19	49469913	49469913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:49469913C>T	ENST00000331825.6	+	4	656	c.449C>T	c.(448-450)aCc>aTc	p.T150I		NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	150	Ferritin-like diiron.				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	GACCACCTGACCAACCTCCAC	0.542000													21	92					0	0	0.001882	0	0
JAM2	58494	broad.mit.edu	37	21	27071133	27071133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:27071133G>A	ENST00000480456.1	+	5	1089	c.539G>A	c.(538-540)aGa>aAa	p.R180K	JAM2_ENST00000312957.5_Missense_Mutation_p.R180K|JAM2_ENST00000425221.2_Missense_Mutation_p.R144K|JAM2_ENST00000400532.1_Missense_Mutation_p.R180K	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	180	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GAAAATCCCAGACTTGGCTCC	0.423000													5	30					0	0	0.001168	0	0
ALS2	57679	broad.mit.edu	37	2	202598155	202598155	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:202598155G>A	ENST00000264276.6	-	13	2796	c.2424C>T	c.(2422-2424)ttC>ttT	p.F808F	ALS2_ENST00000457679.2_Silent_p.F120F	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	808	DH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	p.F808F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TTTTATTTAGGAAATCACTAG	0.303000													4	29					0	0	0.000602	0	0
PSD4	23550	broad.mit.edu	37	2	113951444	113951444	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:113951444G>A	ENST00000245796.6	+	10	2295	c.2100G>A	c.(2098-2100)ggG>ggA	p.G700G	PSD4_ENST00000441564.2_Silent_p.G672G	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	700	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAACATTGGGAAGAGCATGA	0.547000													6	50					0	0	0.004482	0	0
EFS	10278	broad.mit.edu	37	14	23829435	23829435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:23829435C>T	ENST00000216733.3	-	3	960	c.353G>A	c.(352-354)gGa>gAa	p.G118E	EFS_ENST00000351354.3_Missense_Mutation_p.G25E|EFS_ENST00000429593.2_Missense_Mutation_p.G25E	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	118	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		TGGGCAAGGTCCAGCTGGAGG	0.622000													8	67					0	0	0.004482	0	0
MIR485	574436	broad.mit.edu	37	14	101521802	101521802	+	RNA	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:101521802T>G	ENST00000385292.2	+	0	65					NR_030160.1																						TCAAAGCGAGTCATACACGGC	0.532000													5	61					0	0	0.000602	0	0
PRKD2	25865	broad.mit.edu	37	19	47177969	47177969	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:47177969G>A	ENST00000433867.1	-	19	2925	c.2448C>T	c.(2446-2448)ctC>ctT	p.L816L	PRKD2_ENST00000601806.1_Silent_p.L659L|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000291281.4_Silent_p.L816L|PRKD2_ENST00000600194.1_Silent_p.L659L|PRKD2_ENST00000595515.1_Silent_p.L826L	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	816					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CCAGCTCTCGGAGGTCCAGCC	0.602000													5	18					0	0	0.001984	0	0
DNAH2	146754	broad.mit.edu	37	17	7733619	7733619	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:7733619G>A	ENST00000572933.1	+	78	13315	c.11853_splice	c.e78-1	p.G3952_splice	DNAH2_ENST00000389173.2_Splice_Site_p.G3952_splice			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3952	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTCCCCAGGGCCTAAAGGCC	0.468000													5	35					0	0	0.000602	0	0
TPTE	7179	broad.mit.edu	37	21	10951266	10951266	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:10951266C>T	ENST00000298232.7	-	9	759	c.392_splice	c.e9+1	p.R131_splice	TPTE_ENST00000342420.5_Splice_Site_p.R111_splice|TPTE_ENST00000361285.4_Splice_Site_p.R149_splice|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	149					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAAACTTACCTTTCTACAAA	0.363000													5	49					0	0	0.001168	0	0
DHX9	1660	broad.mit.edu	37	1	182856252	182856252	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:182856252C>G	ENST00000367549.3	+	28	3606	c.3496C>G	c.(3496-3498)Cga>Gga	p.R1166G	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1166	NTD.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	p.R1166R(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CAAGATGGCCCGATACGACAA	0.483000													7	107					0	0	0.001984	0	0
GLIS2	84662	broad.mit.edu	37	16	4384919	4384919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:4384919G>A	ENST00000262366.3	+	5	1284	c.463G>A	c.(463-465)Gac>Aac	p.D155N	PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.D155N			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	155	Interaction with CTNND1 (By similarity).|Transcription repression (By similarity).				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCCTCCCAAGGACAAGTGCCT	0.652000													4	52					0	0	0.000602	0	0
TACC2	10579	broad.mit.edu	37	10	123970247	123970247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:123970247C>T	ENST00000369005.1	+	9	6647	c.6307C>T	c.(6307-6309)Ccc>Tcc	p.P2103S	TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000515273.1_Missense_Mutation_p.P2107S|TACC2_ENST00000513429.1_Missense_Mutation_p.P249S|TACC2_ENST00000360561.3_Missense_Mutation_p.P181S|TACC2_ENST00000515603.1_Missense_Mutation_p.P2058S|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000358010.1_Missense_Mutation_p.P249S|TACC2_ENST00000334433.3_Missense_Mutation_p.P2103S|TACC2_ENST00000260733.3_Missense_Mutation_p.P181S|TACC2_ENST00000368999.1_Missense_Mutation_p.P181S|TACC2_ENST00000369004.3_Missense_Mutation_p.P181S|TACC2_ENST00000453444.2_Missense_Mutation_p.P2107S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2103						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTCAGGCAATCCCGAGGCCGT	0.552000													7	62					0	0	0.003080	0	0
DYRK1B	9149	broad.mit.edu	37	19	40318979	40318979	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:40318979G>A	ENST00000593685.1	-	6	1233	c.765C>T	c.(763-765)atC>atT	p.I255I	DYRK1B_ENST00000348817.3_Silent_p.I255I|DYRK1B_ENST00000430012.2_Silent_p.I255I|DYRK1B_ENST00000597639.1_Silent_p.I255I|DYRK1B_ENST00000323039.5_Silent_p.I255I			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	255	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CCACAATCTTGATGGCGCTGC	0.622000													12	20					0	0	0.001855	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65208571	65208571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:65208571C>T	ENST00000247226.7	+	14	2476	c.2168C>T	c.(2167-2169)tCc>tTc	p.S723F	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.S312F|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S779F|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.S284F	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	779				YYENAEHHDAGFSV -> WWPHCTPASCSSPT (in Ref. 2; AAH04298).	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CAGGTGGGCTCCCGGCCGACT	0.607000													6	63					0	0	0.001984	0	0
RELT	84957	broad.mit.edu	37	11	73101834	73101834	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:73101834C>G	ENST00000064780.2	+	4	416	c.155C>G	c.(154-156)cCc>cGc	p.P52R	RELT_ENST00000393580.2_Missense_Mutation_p.P52R	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	52						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						AGGCCCTGCCCCCCAGGCACC	0.667000													7	53					0	0	0.001984	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33405666	33405666	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:33405666C>T	ENST00000418600.2	+	8	1085	c.984C>T	c.(982-984)taC>taT	p.Y328Y	SYNGAP1_ENST00000293748.5_Silent_p.Y328Y|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Silent_p.Y269Y	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	328	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TGCATCTGTACCGTGACTCAG	0.622000													6	60					0	0	0.001984	0	0
C12orf40	283461	broad.mit.edu	37	12	40044066	40044066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:40044066C>T	ENST00000324616.5	+	7	750	c.596C>T	c.(595-597)tCc>tTc	p.S199F	C12orf40_ENST00000405531.3_Missense_Mutation_p.S199F|C12orf40_ENST00000398716.1_Missense_Mutation_p.S122F	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	199										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TGTTCTGATTCCTTGCTTTCC	0.279000													7	36					0	0	0.001984	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181226	19181226	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:19181226G>A	ENST00000375371.3	-	3	759	c.738C>T	c.(736-738)aaC>aaT	p.N246N	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	246					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TCATGTTCTGGTTGGGCTGCA	0.652000													5	18					0	0	0.000602	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73073768	73073768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:73073768C>T	ENST00000263674.3	+	14	5335	c.4985C>T	c.(4984-4986)tCc>tTc	p.S1662F		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1662					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ACCATCTCCTCCAGCTTTGGC	0.642000													7	36					0	0	0.006214	0	0
PLOD2	5352	broad.mit.edu	37	3	145803060	145803060	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:145803060C>T	ENST00000282903.5	-	11	1305	c.1127_splice	c.e11-1	p.M376_splice	PLOD2_ENST00000461497.1_Silent_p.R36R|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000360060.3_Splice_Site_p.M376_splice|PLOD2_ENST00000494950.1_Splice_Site_p.M321_splice	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	376					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	GGCAAAAGTCCCTAACAGTGA	0.289000													5	25					0	0	0.000602	0	0
GDF10	2662	broad.mit.edu	37	10	48426663	48426663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:48426663C>T	ENST00000224605.2	-	3	1609	c.1344G>A	c.(1342-1344)atG>atA	p.M448I		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	448					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CAAGGGAGTTCATCTTATCGG	0.562000											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	88					0	0	0.006214	0	0
DUXA	503835	broad.mit.edu	37	19	57672125	57672125	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:57672125G>A	ENST00000554048.2	-	2	65	c.66C>T	c.(64-66)ttC>ttT	p.F22F		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	22						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		GTTCTTCTGTGAATTTTGTGC	0.338000													25	56					0	0	0.003330	0	0
NFATC1	4772	broad.mit.edu	37	18	77170533	77170533	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:77170533C>T	ENST00000253506.5	+	2	627	c.258C>T	c.(256-258)ccC>ccT	p.P86P	NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000329101.4_Silent_p.P73P|NFATC1_ENST00000542384.1_Silent_p.P86P|NFATC1_ENST00000427363.2_Silent_p.P86P|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Silent_p.P86P|NFATC1_ENST00000592223.1_Silent_p.P73P|NFATC1_ENST00000318065.5_Silent_p.P73P|NFATC1_ENST00000591814.1_Silent_p.P86P|NFATC1_ENST00000586434.1_Silent_p.P73P	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	86					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CGGATCACCCCTCGGGGTACG	0.726000													6	43					0	0	0.001984	0	0
DIDO1	11083	broad.mit.edu	37	20	61525227	61525227	+	Silent	SNP	G	G	A	rs111520535	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:61525227G>A	ENST00000266070.4	-	12	3217	c.2892C>T	c.(2890-2892)tcC>tcT	p.S964S	DIDO1_ENST00000395340.1_Silent_p.S964S|DIDO1_ENST00000395335.2_Silent_p.S964S|DIDO1_ENST00000395343.1_Silent_p.S964S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	964					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.S964S(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGTCCCGGCCGGACACTGTGA	0.687000													5	48					0	0	0.001168	0	0
KRT6A	3853	broad.mit.edu	37	12	52886439	52886439	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:52886439G>A	ENST00000330722.6	-	1	602	c.534C>T	c.(532-534)atC>atT	p.I178I		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	178	Coil 1A.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCACCTTGTCGATGAAGGAGG	0.592000													5	76					0	0	0.001168	0	0
GJA5	2702	broad.mit.edu	37	1	147230527	147230527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:147230527C>T	ENST00000271348.2	-	2	981	c.820G>A	c.(820-822)Ggc>Agc	p.G274S	GJA5_ENST00000369237.1_Missense_Mutation_p.G274S	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	274					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CCCCCAGGGCCATTCTCCAGG	0.552000													22	68					0	0	0.003330	0	0
AKAP6	9472	broad.mit.edu	37	14	33293203	33293203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:33293203G>A	ENST00000280979.4	+	13	6354	c.6184G>A	c.(6184-6186)Gaa>Aaa	p.E2062K	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2062					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTTTGTTAAGGAAATCATTGA	0.398000													5	38					0	0	0.001168	0	0
ABL2	27	broad.mit.edu	37	1	179078467	179078467	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:179078467G>A	ENST00000502732.1	-	12	2138	c.1935C>T	c.(1933-1935)acC>acT	p.T645T	ABL2_ENST00000511413.1_Silent_p.T645T|ABL2_ENST00000344730.3_Silent_p.T630T|ABL2_ENST00000408940.3_Silent_p.T609T|ABL2_ENST00000504405.1_Silent_p.T609T|ABL2_ENST00000512653.1_Silent_p.T630T|ABL2_ENST00000507173.1_Silent_p.T624T|ABL2_ENST00000367623.4_Silent_p.T624T	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	645					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCCTATCCCTGGTGAAGCATG	0.542000			T	ETV6	AML								16	130					0	0	0.003163	0	0
MARCKSL1	65108	broad.mit.edu	37	1	32800664	32800664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:32800664G>A	ENST00000329421.7	-	2	467	c.122C>T	c.(121-123)tCc>tTc	p.S41F		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	41						plasma membrane	calmodulin binding			breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCCTTGGGGGATAAGTCTCC	0.637000													21	63					0	0	0.003330	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367368	234367368	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:234367368C>T	ENST00000366618.3	+	3	634	c.489C>T	c.(487-489)ttC>ttT	p.F163F	SLC35F3_ENST00000366617.3_Silent_p.F94F	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	94					transport	integral to membrane		p.F163F(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCAGGAAGTTCGACGCGCCCT	0.587000													10	125					0	0	0.000978	0	0
LRBA	987	broad.mit.edu	37	4	151223869	151223869	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:151223869C>T	ENST00000535741.1	-	53	8398	c.7925G>A	c.(7924-7926)gGa>gAa	p.G2642E	LRBA_ENST00000357115.3_Missense_Mutation_p.G2653E|LRBA_ENST00000510413.1_Missense_Mutation_p.G2642E|LRBA_ENST00000503716.1_5'UTR			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2653						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GTAGCAATTTCCCCCAATATA	0.428000													5	41					0	0	0.000602	0	0
TBL3	10607	broad.mit.edu	37	16	2028358	2028358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:2028358C>T	ENST00000568546.1	+	21	2307	c.2179C>T	c.(2179-2181)Cac>Tac	p.H727Y		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	727					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CAACTCGCGGCACTGCCACGA	0.672000													21	78					0	0	0.001523	0	0
HUNK	30811	broad.mit.edu	37	21	33371035	33371035	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:33371035C>T	ENST00000270112.2	+	11	2043	c.1683C>T	c.(1681-1683)tcC>tcT	p.S561S		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	561					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TGGTGCGCTCCTTCGAGTCTG	0.592000													4	25					0	0	0.000248	0	0
LGALS9	3965	broad.mit.edu	37	17	25967724	25967724	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:25967724G>A	ENST00000395473.2	+	3	1726	c.258G>A	c.(256-258)gaG>gaA	p.E86E	LGALS9_ENST00000302228.5_Silent_p.E86E|LGALS9_ENST00000448970.2_3'UTR|LGALS9_ENST00000413914.2_Silent_p.E29E|AC015688.3_ENST00000584605.1_3'UTR|LGALS9_ENST00000310394.5_Silent_p.E86E|LGALS9_ENST00000313648.6_Silent_p.E86E	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	86	Beta-galactoside binding 1.|Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GGCCCGAGGAGAGGAAGACAC	0.552000													13	99					0	0	0.007413	0	0
HFE2	148738	broad.mit.edu	37	1	145416641	145416641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:145416641G>A	ENST00000336751.5	+	4	1224	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	HFE2_ENST00000357836.5_Missense_Mutation_p.R216Q|HFE2_ENST00000475797.1_Missense_Mutation_p.R103Q|HFE2_ENST00000497365.1_Missense_Mutation_p.R103Q	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	329					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGACTCTCTCGATCAGAGCGC	0.552000													6	50					0	0	0.001168	0	0
PKD1L2	114780	broad.mit.edu	37	16	81249950	81249950	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:81249950G>A	ENST00000599697.1	-	2	362	c.363C>T	c.(361-363)gcC>gcT	p.A121A	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	121	C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGGCAGCGGCGGCCTGCCCTC	0.637000													4	49					0	0	0.000602	0	0
NUP210	23225	broad.mit.edu	37	3	13364826	13364826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:13364826C>T	ENST00000254508.5	-	34	4833	c.4751G>A	c.(4750-4752)aGa>aAa	p.R1584K		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1584					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GTTAGAGCTTCTGTCTCCCAC	0.572000													11	124					0	0	0.000978	0	0
HEATR2	54919	broad.mit.edu	37	7	825183	825183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:825183C>T	ENST00000297440.6	+	13	2481	c.2461C>T	c.(2461-2463)Cca>Tca	p.P821S	HEATR2_ENST00000313147.5_Intron|HEATR2_ENST00000403952.3_Missense_Mutation_p.P246S	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	821							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CGGGCTGTTCCCAGATCTCCT	0.552000													26	80					0	0	0.007291	0	0
KANK4	163782	broad.mit.edu	37	1	62739545	62739545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:62739545C>T	ENST00000371153.4	-	3	1609	c.1231G>A	c.(1231-1233)Gac>Aac	p.D411N	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	411										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ACCATCACGTCCGTCTGGCCC	0.517000													14	101					0	0	0.001855	0	0
TNIP3	79931	broad.mit.edu	37	4	122068287	122068287	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:122068287G>A	ENST00000454328.1	-	9	879	c.652C>T	c.(652-654)Cga>Tga	p.R218*	TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000057513.3_Nonsense_Mutation_p.R218*|TNIP3_ENST00000507879.1_Nonsense_Mutation_p.R288*|TNIP3_ENST00000509841.1_Nonsense_Mutation_p.R295*			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	218										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AGTCTCTCTCGATCCGATCGT	0.373000													25	70					0	0	0.003330	0	0
C11orf1	64776	broad.mit.edu	37	11	111754511	111754511	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:111754511T>A	ENST00000530214.1	+	3	312	c.293T>A	c.(292-294)cTc>cAc	p.L98H	C11orf1_ENST00000528125.1_Silent_p.P74P|C11orf1_ENST00000260276.3_Silent_p.P120P|C11orf1_ENST00000529270.1_Silent_p.P160P			Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	0						nucleus				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		AGCGAGAGCCTCACTGGTTCC	0.398000													19	57					0	0	0.002299	0	0
ATRNL1	26033	broad.mit.edu	37	10	116930804	116930804	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:116930804T>A	ENST00000355044.3	+	8	1228	c.1102T>A	c.(1102-1104)Ttt>Att	p.F368I	ATRNL1_ENST00000527407.1_Silent_p.S338S|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	368						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GGAAAACATCTTTATGTATGG	0.244000													9	27					0	0	0.004482	0	0
KRT31	3881	broad.mit.edu	37	17	39551875	39551875	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:39551875C>T	ENST00000251645.2	-	4	641	c.588_splice	c.e4-1	p.E197_splice		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	197	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GTATTGACCTCCTATGGATGC	0.493000													7	18					0	0	0.001984	0	0
SCAF4	57466	broad.mit.edu	37	21	33060763	33060763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:33060763G>A	ENST00000286835.7	-	16	2282	c.1900C>T	c.(1900-1902)Cct>Tct	p.P634S	SCAF4_ENST00000399804.1_Missense_Mutation_p.P634S|SCAF4_ENST00000434667.3_Missense_Mutation_p.P619S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	634						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGCTTCTTAGGAATTCCTTTC	0.363000													6	81					0	0	0.003080	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72190486	72190486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:72190486C>T	ENST00000555818.1	+	16	4742	c.4394C>T	c.(4393-4395)tCc>tTc	p.S1465F	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1444F|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1444F|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S919F|SIPA1L1_ENST00000554874.1_3'UTR	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1465	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		tcctcttcctcctcctcctcT	0.552000													6	65					0	0	0.001168	0	0
PKHD1	5314	broad.mit.edu	37	6	51907788	51907788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:51907788G>A	ENST00000371117.3	-	27	3241	c.2966C>T	c.(2965-2967)cCt>cTt	p.P989L	PKHD1_ENST00000340994.4_Missense_Mutation_p.P989L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	989	IPT/TIG 4.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CATTCCAACAGGTAGCAAATC	0.453000													4	38					0	0	0.000602	0	0
PIK3R4	30849	broad.mit.edu	37	3	130449249	130449249	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:130449249G>A	ENST00000356763.3	-	5	2045	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	496					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CTAATTCCAGGAATCTCAGAG	0.303000													8	40					0	0	0.006214	0	0
SAGE1	55511	broad.mit.edu	37	X	134991100	134991100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:134991100G>A	ENST00000535938.1	+	13	1686	c.1519G>A	c.(1519-1521)Gat>Aat	p.D507N	SAGE1_ENST00000370709.3_Missense_Mutation_p.D507N|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Missense_Mutation_p.D507N	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	507										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CATATCAAATGATGCACCACA	0.433000													8	27					0	0	0.003080	0	0
BRSK1	84446	broad.mit.edu	37	19	55820097	55820097	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55820097G>A	ENST00000309383.1	+	18	2456		c.e18+1		BRSK1_ENST00000590333.1_Splice_Site|BRSK1_ENST00000326848.7_Splice_Site	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1						establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCCCTggcaggtgggtggtgg	0.746000													4	7					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179640842	179640842	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179640842G>A	ENST00000589042.1	-	28	5973	c.5749C>T	c.(5749-5751)Cct>Tct	p.P1917S	TTN_ENST00000360870.5_Missense_Mutation_p.P1917S|TTN_ENST00000460472.2_Missense_Mutation_p.P1871S|TTN_ENST00000342992.6_Missense_Mutation_p.P1917S|TTN_ENST00000342175.6_Missense_Mutation_p.P1871S|TTN_ENST00000359218.5_Missense_Mutation_p.P1871S|TTN_ENST00000591111.1_Missense_Mutation_p.P1917S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1635	Ig-like 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACCTTCAGGATTTTCCGCG	0.453000													25	136					0	0	0.003954	0	0
TDRD5	163589	broad.mit.edu	37	1	179561865	179561865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:179561865G>A	ENST00000444136.1	+	2	365	c.115G>A	c.(115-117)Gtt>Att	p.V39I	TDRD5_ENST00000367614.1_Missense_Mutation_p.V39I|TDRD5_ENST00000294848.8_Missense_Mutation_p.V39I	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	39	Lotus/OST-HTH 1.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CCTTTTGATGGTTGGCAACCA	0.507000													13	106					0	0	0.001368	0	0
CABP1	9478	broad.mit.edu	37	12	121098586	121098586	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:121098586C>T	ENST00000453000.1	+	4	1202	c.690C>T	c.(688-690)ctC>ctT	p.L230L	CABP1_ENST00000316803.3_Silent_p.L294L|CABP1_ENST00000288616.3_Silent_p.L151L|CABP1_ENST00000351200.2_Silent_p.L91L			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	294	EF-hand 1.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCCTAAACTCCTGGCAGAGA	0.527000													26	253					0	0	0.002096	0	0
SEC14L3	266629	broad.mit.edu	37	22	30866041	30866041	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:30866041C>T	ENST00000403066.1	-	5	305	c.22G>A	c.(22-24)Gat>Aat	p.D8N	SEC14L3_ENST00000415957.2_Missense_Mutation_p.D8N|SEC14L3_ENST00000402286.1_5'UTR|SEC14L3_ENST00000401751.1_Missense_Mutation_p.D8N|SEC14L3_ENST00000215812.4_Missense_Mutation_p.D67N|SEC14L3_ENST00000539629.1_Missense_Mutation_p.D8N|SEC14L3_ENST00000540910.1_5'UTR			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	67						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TGGTCAATATCCATGGTCTTC	0.547000													22	139					0	0	0.002780	0	0
GPC5	2262	broad.mit.edu	37	13	92345508	92345508	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:92345508G>A	ENST00000377067.3	+	3	765	c.393G>A	c.(391-393)agG>agA	p.R131R		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	131						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GTACCTACAGGAACATGGCCT	0.418000													6	55					0	0	0.001168	0	0
NCF4	4689	broad.mit.edu	37	22	37271913	37271913	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:37271913C>T	ENST00000397147.4	+	8	1030	c.846C>T	c.(844-846)ctC>ctT	p.L282L	NCF4_ENST00000248899.6_Intron	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	0					cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						ATGGGTCCCTCTCCCACTCCA	0.617000													8	78					0	0	0.006214	0	0
CACNA2D1	781	broad.mit.edu	37	7	81765956	81765956	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:81765956G>A	ENST00000356860.3	-	5	729	c.391C>T	c.(391-393)Ctc>Ttc	p.L131F	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.L131F|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.L131F	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	131						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTCACATCGAGATCATCCTTT	0.259000													4	17					0	0	0.001168	0	0
CNGA2	1260	broad.mit.edu	37	X	150912516	150912516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:150912516C>T	ENST00000329903.4	+	6	1574	c.1541C>T	c.(1540-1542)tCg>tTg	p.S514L		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	514					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCTGCTGTCGGCTGGAAGC	0.507000													10	40					0	0	0.000978	0	0
ANKLE2	23141	broad.mit.edu	37	12	133306418	133306418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:133306418G>A	ENST00000539605.1	-	10	8828	c.2144C>T	c.(2143-2145)cCt>cTt	p.P715L	ANKLE2_ENST00000542657.1_Missense_Mutation_p.P132L|ANKLE2_ENST00000357997.5_Missense_Mutation_p.P777L|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000542282.1_Missense_Mutation_p.P132L			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	777						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TGCGGGAGAAGGCTCTAACAA	0.478000													5	52					0	0	0.000602	0	0
TECTA	7007	broad.mit.edu	37	11	120979943	120979943	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:120979943C>T	ENST00000392793.1	+	4	493	c.222C>T	c.(220-222)tcC>tcT	p.S74S	TECTA_ENST00000264037.2_Silent_p.S74S			O75443	TECTA_HUMAN	tectorin alpha	74					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGTTGTTTCCTTCAATGTGC	0.458000													6	15					0	0	0.001168	0	0
HEATR2	54919	broad.mit.edu	37	7	825182	825182	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:825182C>T	ENST00000297440.6	+	13	2480	c.2460C>T	c.(2458-2460)ttC>ttT	p.F820F	HEATR2_ENST00000313147.5_Intron|HEATR2_ENST00000403952.3_Silent_p.F245F	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	820							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GCGGGCTGTTCCCAGATCTCC	0.552000													26	79					0	0	0.007291	0	0
SMTN	6525	broad.mit.edu	37	22	31493304	31493304	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:31493304C>T	ENST00000333137.7	+	16	2357	c.2139C>T	c.(2137-2139)tcC>tcT	p.S713S	SMTN_ENST00000404574.1_Silent_p.S236S|SMTN_ENST00000358743.1_Silent_p.S713S|SMTN_ENST00000347557.2_Silent_p.S713S	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	713	Poly-Ser.				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCTCTTCCTCCTCATCCAAGA	0.567000													6	70					0	0	0.001168	0	0
EPS15L1	58513	broad.mit.edu	37	19	16545262	16545262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:16545262G>A	ENST00000597937.1	-	7	416	c.412C>T	c.(412-414)Ctc>Ttc	p.L138F	EPS15L1_ENST00000248070.6_Missense_Mutation_p.L138F|EPS15L1_ENST00000535753.2_Missense_Mutation_p.L138F|EPS15L1_ENST00000602009.1_5'UTR|EPS15L1_ENST00000455140.2_Missense_Mutation_p.L138F|EPS15L1_ENST00000594975.1_Missense_Mutation_p.L138F	NM_001258376.1	NP_001245305.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	138	EH 2.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						ATGGGCAAGAGGCTTTCAAAA	0.493000													10	107					0	0	0.000978	0	0
LRP2	4036	broad.mit.edu	37	2	170115567	170115567	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:170115567G>A	ENST00000263816.3	-	17	2766	c.2481C>T	c.(2479-2481)aaC>aaT	p.N827N	LRP2_ENST00000443831.1_Silent_p.N690N	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	827					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCGACCGTGGGTTATTTAAAT	0.398000													12	45					0	0	0.000978	0	0
SDK1	221935	broad.mit.edu	37	7	4152925	4152925	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:4152925C>T	ENST00000404826.2	+	24	3578	c.3439C>T	c.(3439-3441)Cga>Tga	p.R1147*	SDK1_ENST00000389531.3_Nonsense_Mutation_p.R1147*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1147	Fibronectin type-III 5.				cell adhesion	integral to membrane		p.R1147*(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTTTAGATTTCGAATGAAGCA	0.537000													39	181					0	0	0.002222	0	0
RPUSD3	285367	broad.mit.edu	37	3	9879874	9879874	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:9879874G>A	ENST00000383820.5	-	9	883	c.882C>T	c.(880-882)ctC>ctT	p.L294L	TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000424438.1_3'UTR|RPUSD3_ENST00000433535.2_Silent_p.L279L	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	294					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					GGCGTCTGAGGAGGGCTTCAT	0.622000													8	72					0	0	0.006214	0	0
CLMN	79789	broad.mit.edu	37	14	95669759	95669759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:95669759G>A	ENST00000298912.4	-	9	2040	c.1927C>T	c.(1927-1929)Cct>Tct	p.P643S		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	643						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GGGGCTGAAGGACAGCCTTCA	0.473000													11	70					0	0	0.000978	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643927	37643927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:37643927G>A	ENST00000356958.4	-	5	1132	c.874C>T	c.(874-876)Cat>Tat	p.H292Y	ZNF585A_ENST00000355533.2_Missense_Mutation_p.H237Y|ZNF585A_ENST00000392157.2_Missense_Mutation_p.H237Y|ZNF585A_ENST00000292841.5_Missense_Mutation_p.H237Y|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCCAGTATGAATTCTTCGG	0.438000													23	143					0	0	0.002780	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986373	51986373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:51986373C>T	ENST00000396477.4	+	4	797	c.776C>T	c.(775-777)tCc>tTc	p.S259F	CEACAM18_ENST00000451626.1_Missense_Mutation_p.S320F	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	320						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATCTGCTATTCCTTCCTGGAT	0.522000													36	91					0	0	0.008740	0	0
SCAND3	114821	broad.mit.edu	37	6	28543585	28543585	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:28543585C>T	ENST00000452236.2	-	3	1514	c.897G>A	c.(895-897)cgG>cgA	p.R299R		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	299					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GTAAGTAATACCGTATTTTAT	0.403000													9	111					0	0	0.006214	0	0
KLK7	5650	broad.mit.edu	37	19	51480880	51480880	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:51480880G>A	ENST00000391807.1	-	6	775	c.674C>T	c.(673-675)cCt>cTt	p.P225L	KLK7_ENST00000336317.4_Missense_Mutation_p.P112L|KLK7_ENST00000595820.1_Missense_Mutation_p.P225L|KLK7_ENST00000597707.1_Missense_Mutation_p.P153L|CTB-147C22.9_ENST00000594512.1_RNA	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	225	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TTGGCCGCAAGGGAAAGTTCC	0.532000													8	46					0	0	0.004482	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143439	61143439	+	RNA	SNP	A	A	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:61143439A>C	ENST00000475015.1	-	0	899				C20orf166-AS1_ENST00000412495.1_RNA																							TGCTCCTGGGACCCTCACCTT	0.672000													5	52					0	0	0.001984	0	0
C9orf139	401563	broad.mit.edu	37	9	139929401	139929401	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:139929401A>T	ENST00000314330.2	+	3	1982	c.468A>T	c.(466-468)gaA>gaT	p.E156D		NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	156										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		TTTGCCCAGAAATGGGTCAGA	0.622000													6	65					0	0	0.001984	0	0
VWA8	23078	broad.mit.edu	37	13	42465620	42465620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:42465620C>T	ENST00000379310.3	-	5	655	c.587G>A	c.(586-588)aGa>aAa	p.R196K	VWA8_ENST00000281496.6_Missense_Mutation_p.R196K	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CTGCATCTCTCTGTTTTCCAG	0.453000													8	85					0	0	0.003080	0	0
THSD7B	80731	broad.mit.edu	37	2	137814260	137814260	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:137814260G>A	ENST00000409968.1	+	3	588	c.410G>A	c.(409-411)gGa>gAa	p.G137E	THSD7B_ENST00000413152.2_Missense_Mutation_p.G106E|THSD7B_ENST00000272643.3_Missense_Mutation_p.G137E					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCTCAGCATGGACTGCAGCAC	0.537000													6	26					0	0	0.001168	0	0
NCOA6	23054	broad.mit.edu	37	20	33364247	33364247	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:33364247G>A	ENST00000374796.2	-	5	2810	c.240C>T	c.(238-240)tcC>tcT	p.S80S	NCOA6_ENST00000359003.2_Silent_p.S80S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	80	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTAGCTTGCTGGACTCTTGAT	0.438000													8	28					0	0	0.006214	0	0
LYST	1130	broad.mit.edu	37	1	235884159	235884159	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:235884159T>A	ENST00000389794.3	-	40	9536	c.9362A>T	c.(9361-9363)aAt>aTt	p.N3121I	LYST_ENST00000389793.2_Missense_Mutation_p.N3121I|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3121	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCCAGAAGATTAGGGAGGTT	0.343000													8	51					0	0	0.006214	0	0
EIF3H	8667	broad.mit.edu	37	8	117768029	117768029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:117768029G>A	ENST00000521861.1	-	1	31	c.8C>T	c.(7-9)tCc>tTc	p.S3F	EIF3H_ENST00000276682.4_Missense_Mutation_p.S17F	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3, subunit H	3					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					TTCCTTGCGGGACGCCATCTT	0.607000													6	19					0	0	0.001984	0	0
DNAJC10	54431	broad.mit.edu	37	2	183601062	183601062	+	Silent	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:183601062T>C	ENST00000264065.6	+	11	1351	c.936T>C	c.(934-936)gcT>gcC	p.A312A	DNAJC10_ENST00000537515.1_Silent_p.A312A	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	312					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GTACTACTGCTTATTTTCCTC	0.338000													6	26					0	0	0.001168	0	0
EVI5	7813	broad.mit.edu	37	1	93101794	93101794	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:93101794T>G	ENST00000370331.1	-	12	1453	c.1444A>C	c.(1444-1446)Aaa>Caa	p.K482Q	EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000543509.1_Missense_Mutation_p.K493Q|EVI5_ENST00000540033.1_Missense_Mutation_p.K482Q	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	482	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TGCATCTCTTTTAATGCACAC	0.398000													8	97					0	0	0.004482	0	0
LRP8	7804	broad.mit.edu	37	1	53726199	53726199	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:53726199G>A	ENST00000306052.6	-	13	2094	c.1993C>T	c.(1993-1995)Ctg>Ttg	p.L665L	LRP8_ENST00000354412.3_Silent_p.L536L|LRP8_ENST00000347547.2_Silent_p.L495L|LRP8_ENST00000371454.2_Silent_p.L665L|LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000465675.1_Silent_p.L218L	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	665					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TTCTCAGCCAGGATGGAGATT	0.532000													6	85					0	0	0.003080	0	0
GCM1	8521	broad.mit.edu	37	6	52993321	52993321	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:52993321T>G	ENST00000259803.7	-	6	1205	c.994A>C	c.(994-996)Aac>Cac	p.N332H		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	332						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TCTGAAGAGTTTTGGGAAGGA	0.468000													4	61					0	0	0.000248	0	0
PRB1	5542	broad.mit.edu	37	12	11506846	11506846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:11506846C>T	ENST00000500254.2	-	3	228	c.191G>A	c.(190-192)gGa>gAa	p.G64E	PRB1_ENST00000545626.1_Missense_Mutation_p.G64E|PRB1_ENST00000546254.1_Missense_Mutation_p.G64E	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	247	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTTGTTGCCTCCTTGTGGGGG	0.607000													13	201					0	0	0.001855	0	0
NPAS4	266743	broad.mit.edu	37	11	66192534	66192534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:66192534G>A	ENST00000311034.2	+	7	2349	c.2173G>A	c.(2173-2175)Gaa>Aaa	p.E725K		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	725					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TCCCAGTGAGGAATGGGGCTC	0.602000													15	51					0	0	0.003163	0	0
PI4K2B	55300	broad.mit.edu	37	4	25256861	25256861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:25256861C>T	ENST00000264864.6	+	3	787	c.598C>T	c.(598-600)Cat>Tat	p.H200Y	PI4K2B_ENST00000512921.1_Missense_Mutation_p.H104Y	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	200	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				CAACAAGCTTCATCTGAGCAT	0.423000													26	46					0	0	0.008361	0	0
LRIF1	55791	broad.mit.edu	37	1	111490995	111490995	+	Silent	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:111490995T>A	ENST00000369763.4	-	4	2286	c.1896A>T	c.(1894-1896)gcA>gcT	p.A632A	LRIF1_ENST00000494675.1_Silent_p.A96A|LRIF1_ENST00000485275.2_Silent_p.A96A|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TATTAGTTTTTGCTTTTCTTT	0.343000													5	19					0	0	0.000602	0	0
TP63	8626	broad.mit.edu	37	3	189587118	189587118	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:189587118C>T	ENST00000264731.3	+	9	1224	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	TP63_ENST00000320472.5_Missense_Mutation_p.R379C|TP63_ENST00000392460.3_Missense_Mutation_p.R379C|TP63_ENST00000456148.1_Missense_Mutation_p.R281C|TP63_ENST00000354600.5_Missense_Mutation_p.R285C|TP63_ENST00000382063.4_Missense_Mutation_p.R294C|TP63_ENST00000392463.2_Missense_Mutation_p.R285C|TP63_ENST00000449992.1_Missense_Mutation_p.R200C|TP63_ENST00000440651.2_Missense_Mutation_p.R375C|TP63_ENST00000437221.1_Missense_Mutation_p.R285C|TP63_ENST00000392461.3_Missense_Mutation_p.R285C|TP63_ENST00000418709.2_Missense_Mutation_p.R379C	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	379	Interaction with HIPK2.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R379C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACCAGCGTTTCGTCAGAACAC	0.363000										HNSCC(45;0.13)			4	32					0	0	0.001168	0	0
RIN3	79890	broad.mit.edu	37	14	93118037	93118037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:93118037C>T	ENST00000216487.7	+	6	802	c.643C>T	c.(643-645)Cat>Tat	p.H215Y	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	215			H -> L (in dbSNP:rs3829947).|H -> P (in dbSNP:rs3829947).|H -> R (in dbSNP:rs3829947).		endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GCCCACAGCCCATGACGCAAA	0.592000													6	42					0	0	0.001168	0	0
EXD2	55218	broad.mit.edu	37	14	69701570	69701570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:69701570C>T	ENST00000409014.1	+	7	1153	c.496C>T	c.(496-498)Cca>Tca	p.P166S	EXD2_ENST00000409949.1_Missense_Mutation_p.P166S|EXD2_ENST00000409675.1_Missense_Mutation_p.P166S|EXD2_ENST00000409242.1_Missense_Mutation_p.P166S|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.P166S|EXD2_ENST00000409018.3_Missense_Mutation_p.P291S|EXD2_ENST00000312994.5_Missense_Mutation_p.P291S	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	166					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GGTCGACATCCCATTTCGAAG	0.443000													7	38					0	0	0.003080	0	0
HMCN1	83872	broad.mit.edu	37	1	186099733	186099733	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:186099733C>T	ENST00000271588.4	+	85	13363	c.13134C>T	c.(13132-13134)acC>acT	p.T4378T	HMCN1_ENST00000367492.2_Silent_p.T4378T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4378	Ig-like C2-type 43.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGACCCCACCCCAACCATCC	0.483000													11	72					0	0	0.001368	0	0
ZNF606	80095	broad.mit.edu	37	19	58490285	58490285	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:58490285C>T	ENST00000341164.4	-	7	2383	c.1763G>A	c.(1762-1764)aGa>aAa	p.R588K	ZNF606_ENST00000536132.1_Missense_Mutation_p.R498K	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CGTGTGAGTTCTCTGATGGGC	0.408000													5	68					0	0	0.001168	0	0
ZNF30	90075	broad.mit.edu	37	19	35434309	35434309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:35434309C>T	ENST00000439785.1	+	5	886	c.442C>T	c.(442-444)Ccc>Tcc	p.P148S	ZNF30_ENST00000426813.2_Missense_Mutation_p.P66S|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000601142.1_Missense_Mutation_p.P147S|ZNF30_ENST00000303586.7_Missense_Mutation_p.P148S	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TAGTGAAAAACCCAACAGATG	0.363000													7	48					0	0	0.001984	0	0
ARID4A	5926	broad.mit.edu	37	14	58825899	58825899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:58825899G>A	ENST00000355431.3	+	18	2276	c.1903G>A	c.(1903-1905)Ggt>Agt	p.G635S	ARID4A_ENST00000348476.3_Missense_Mutation_p.G635S|ARID4A_ENST00000395168.3_Missense_Mutation_p.G635S|ARID4A_ENST00000431317.2_Missense_Mutation_p.G635S	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	635					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTTGGACAAAGGTGGACCAAA	0.289000													12	41					0	0	0.004007	0	0
CAV1	857	broad.mit.edu	37	7	116199076	116199076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:116199076C>T	ENST00000341049.2	+	3	550	c.272C>T	c.(271-273)aCc>aTc	p.T91I	CAV1_ENST00000393470.1_Missense_Mutation_p.T80I|CAV1_ENST00000405348.1_Missense_Mutation_p.T60I|CAV1_ENST00000393468.1_Missense_Mutation_p.T60I|CAV1_ENST00000393467.1_Missense_Mutation_p.T60I	NM_001753.4	NP_001744.2	Q03135	CAV1_HUMAN	caveolin 1, caveolae protein, 22kDa	91					blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization	apical plasma membrane|basolateral plasma membrane|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm	cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			AGCTTCACCACCTTCACTGTG	0.473000													8	19					0	0	0.004482	0	0
SCUBE2	57758	broad.mit.edu	37	11	9052328	9052328	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:9052328G>A	ENST00000457346.2	-	18	2392	c.2318C>T	c.(2317-2319)tCc>tTc	p.S773F	SCUBE2_ENST00000520467.1_Missense_Mutation_p.S716F|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Missense_Mutation_p.S618F|SCUBE2_ENST00000309263.3_Missense_Mutation_p.S744F			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	744						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GTCCTGAAAGGAAGTAGCTCC	0.542000													23	72					0	0	0.003330	0	0
MAOB	4129	broad.mit.edu	37	X	43698125	43698125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:43698125G>A	ENST00000378069.4	-	3	415	c.268C>T	c.(268-270)Cac>Tac	p.H90Y	MAOB_ENST00000536181.1_Missense_Mutation_p.H74Y|MAOB_ENST00000538942.1_Missense_Mutation_p.H74Y|MAOB_ENST00000487544.1_5'UTR	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	90					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TTTACATGGTGGATCAGACGC	0.423000													12	35					0	0	0.001368	0	0
DOCK10	55619	broad.mit.edu	37	2	225657756	225657756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:225657756G>A	ENST00000409592.3	-	47	5341	c.5228C>T	c.(5227-5229)tCc>tTc	p.S1743F	DOCK10_ENST00000258390.7_Missense_Mutation_p.S1749F			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1749	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CGAGAGCAGGGATGCTGTGCA	0.438000													31	145					0	0	0.004289	0	0
ARGFX	503582	broad.mit.edu	37	3	121303897	121303897	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:121303897G>A	ENST00000334384.3	+	3	364	c.354G>A	c.(352-354)ccG>ccA	p.P118P		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	118						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TCGACCTACCGGAGTCAACAG	0.512000													8	52					0	0	0.003080	0	0
SERPINA3	12	broad.mit.edu	37	14	95080919	95080919	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:95080919C>T	ENST00000553947.1	+	5	1104	c.216C>T	c.(214-216)ctC>ctT	p.L72L	SERPINA3_ENST00000393078.3_Silent_p.L47L|SERPINA3_ENST00000467132.1_Silent_p.L47L|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393080.4_Silent_p.L47L			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	47					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACGTGGACCTCGGATTAGCCT	0.567000													6	73					0	0	0.001984	0	0
TEKT5	146279	broad.mit.edu	37	16	10721508	10721508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:10721508C>T	ENST00000283025.2	-	7	1461	c.1390G>A	c.(1390-1392)Gac>Aac	p.D464N	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	464					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TTCTCCTTGTCGATGCAGAGG	0.667000													7	56					0	0	0.004482	0	0
NUDT12	83594	broad.mit.edu	37	5	102894904	102894904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:102894904G>A	ENST00000230792.2	-	3	568	c.472C>T	c.(472-474)Ccc>Tcc	p.P158S	NUDT12_ENST00000507423.1_Missense_Mutation_p.P140S	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	158						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GTAACCAAGGGATTTAAATCT	0.403000													4	40					0	0	0.000248	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146818241	146818241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:146818241G>A	ENST00000361727.3	+	6	1441	c.925G>A	c.(925-927)Gac>Aac	p.D309N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	309	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGACTACCTGGACTTGGACTA	0.433000										HNSCC(39;0.1)			7	38					0	0	0.001984	0	0
SPINK2	6691	broad.mit.edu	37	4	57686735	57686735	+	Silent	SNP	G	G	A	rs114989645	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:57686735G>A	ENST00000506738.1	-	2	295	c.216C>T	c.(214-216)atC>atT	p.I72I	SPINK2_ENST00000248701.4_Silent_p.I22I|SPINK2_ENST00000504762.1_Silent_p.I57I	NM_001271718.1	NP_001258647.1	P20155	ISK2_HUMAN	serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)	22	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(2)	4	Glioma(25;0.08)|all_neural(26;0.181)					CAAATTGAGGGATCAGAGAGG	0.363000													4	41					0	0	0.000248	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138455977	138455977	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:138455977G>A	ENST00000310018.2	-	3	298	c.16C>T	c.(16-18)Cga>Tga	p.R6*	ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000393054.1_Nonsense_Mutation_p.R6*|ATP6V0A4_ENST00000353492.4_Nonsense_Mutation_p.R6*	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	6					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCCTCGCTTCGAAACACAGAC	0.433000													8	119					0	0	0.004482	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403558	69403558	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:69403558G>A	ENST00000317746.2	-	6	1420	c.1378C>T	c.(1378-1380)Cga>Tga	p.R460*		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	460					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						AAGACTGCTCGATCCAGGGGC	0.428000													8	134					0	0	0.003080	0	0
GTF2I	2969	broad.mit.edu	37	7	74159269	74159269	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:74159269C>T	ENST00000324896.4	+	21	2312	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	GTF2I_ENST00000353920.4_Silent_p.F621F|GTF2I_ENST00000416070.1_Silent_p.F600F|GTF2I_ENST00000346152.4_Silent_p.F620F|GTF2I_ENST00000438130.2_3'UTR	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	641					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AAATCAAGTTCGTTGTTAAAA	0.413000													5	71					0	0	0.000602	0	0
AADACL2	344752	broad.mit.edu	37	3	151475347	151475347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:151475347G>A	ENST00000356517.3	+	5	1280	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	391						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TAGGATAAGAGATATGTATGT	0.333000													6	60					0	0	0.001984	0	0
CCDC108	255101	broad.mit.edu	37	2	219870235	219870235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:219870235C>T	ENST00000341552.5	-	32	5055	c.4972G>A	c.(4972-4974)Gaa>Aaa	p.E1658K	CCDC108_ENST00000441968.1_Missense_Mutation_p.E1658K|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.E1658K	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1658						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGATTTTTCCTCAGAAGTC	0.562000													4	47					0	0	0.000602	0	0
DNMT3A	1788	broad.mit.edu	37	2	25467048	25467048	+	Silent	SNP	G	G	A	rs147260180		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:25467048G>A	ENST00000264709.3	-	15	2164	c.1827C>T	c.(1825-1827)ttC>ttT	p.F609F	DNMT3A_ENST00000380746.4_Silent_p.F420F|DNMT3A_ENST00000402667.1_Silent_p.F386F|DNMT3A_ENST00000321117.5_Silent_p.F609F|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	609	ADD.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTTATTAGCGAAGAACATCT	0.627000			"""Mis, F, N, S"""		AML								9	42					0	0	0.008291	0	0
TMEM150C	441027	broad.mit.edu	37	4	83417287	83417287	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:83417287C>T	ENST00000449862.2	-	6	615	c.297G>A	c.(295-297)ctG>ctA	p.L99L	TMEM150C_ENST00000508701.1_Silent_p.L99L|RP11-791G16.2_ENST00000488045.1_RNA|TMEM150C_ENST00000515780.1_Silent_p.L99L	NM_001080506.1	NP_001073975.1	B9EJG8	T150C_HUMAN	transmembrane protein 150C	99						integral to membrane				ovary(1)	1						CACTAATATTCAGCCACGGGT	0.423000													5	44					0	0	0.000602	0	0
PTPRC	5788	broad.mit.edu	37	1	198701516	198701516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:198701516C>T	ENST00000367376.2	+	19	2227	c.2056C>T	c.(2056-2058)Cct>Tct	p.P686S	PTPRC_ENST00000352140.3_Missense_Mutation_p.P638S|PTPRC_ENST00000594404.1_Missense_Mutation_p.P525S|PTPRC_ENST00000442510.2_Missense_Mutation_p.P688S|PTPRC_ENST00000348564.6_Missense_Mutation_p.P527S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	686	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGACATTCTTCCTTGTGAGTA	0.348000													4	39					0	0	0.000248	0	0
GDF10	2662	broad.mit.edu	37	10	48428707	48428707	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:48428707C>T	ENST00000224605.2	-	2	1444	c.1179G>A	c.(1177-1179)tgG>tgA	p.W393*		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	393					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GTGAGATTATCCATTCATTCC	0.532000													5	39					0	0	0.001984	0	0
OVCH1	341350	broad.mit.edu	37	12	29630406	29630406	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:29630406C>T	ENST00000318184.5	-	11	1113	c.1113_splice	c.e11-1	p.V372_splice	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	372	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTTCCACAGACCTTACCTTAA	0.408000													8	50					0	0	0.003080	0	0
DGKI	9162	broad.mit.edu	37	7	137339494	137339494	+	Missense_Mutation	SNP	G	G	A	rs142003962		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:137339494G>A	ENST00000424189.2	-	5	951	c.722C>T	c.(721-723)tCa>tTa	p.S241L	DGKI_ENST00000288490.5_Missense_Mutation_p.S241L|DGKI_ENST00000453654.1_5'UTR|DGKI_ENST00000446122.1_Missense_Mutation_p.S241L			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	241					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TGGTGACCTTGAGCCTCCTTC	0.333000													9	42					0	0	0.008291	0	0
PRPF40A	55660	broad.mit.edu	37	2	153512913	153512913	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:153512913C>T	ENST00000410080.1	-	26	3242		c.e26-1			NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)						mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						CCCAATTACCCTGAAAAGACA	0.388000													6	23					0	0	0.001168	0	0
NRROS	375387	broad.mit.edu	37	3	196387757	196387757	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:196387757C>T	ENST00000328557.4	+	3	1446	c.1243C>T	c.(1243-1245)Ctg>Ttg	p.L415L		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		CAACCAGCTCCTGGGCGTCCC	0.622000													17	88					0	0	0.006122	0	0
ST14	6768	broad.mit.edu	37	11	130068470	130068470	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:130068470G>A	ENST00000278742.5	+	14	2056	c.1638G>A	c.(1636-1638)ggG>ggA	p.G546G		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	546	LDL-receptor class A 3.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	AGTGCAATGGGAAGGACGACT	0.657000													4	22					0	0	0.000602	0	0
TAOK1	57551	broad.mit.edu	37	17	27844579	27844579	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:27844579C>T	ENST00000261716.3	+	16	2332	c.1813C>T	c.(1813-1815)Cga>Tga	p.R605*	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	605					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	p.R605*(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TAACCTTCTTCGACGTCAAAG	0.443000													9	97					0	0	0.006214	0	0
EMILIN2	84034	broad.mit.edu	37	18	2885069	2885069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:2885069C>T	ENST00000254528.3	+	3	524	c.365C>T	c.(364-366)cCc>cTc	p.P122L		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	122					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAAGAAGGTCCCAAAGACCCC	0.512000													5	41					0	0	0.000602	0	0
DISC1	27185	broad.mit.edu	37	1	231906697	231906697	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:231906697C>T	ENST00000439617.2	+	6	1568	c.1515C>T	c.(1513-1515)acC>acT	p.T505T	DISC1_ENST00000366636.4_Silent_p.T505T|DISC1_ENST00000602281.1_Silent_p.T505T|DISC1_ENST00000539444.1_Silent_p.T505T|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000366633.3_Silent_p.T505T|DISC1_ENST00000535983.1_Silent_p.T505T|DISC1_ENST00000537876.1_Silent_p.T505T|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602873.1_Silent_p.T155T	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	505	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GCGACCTGACCCCACTGGTGG	0.592000													8	24					0	0	0.003080	0	0
OR4P4	81300	broad.mit.edu	37	11	55406375	55406375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:55406375C>T	ENST00000314612.2	+	1	542	c.542C>T	c.(541-543)cCt>cTt	p.P181L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GATGTGTATCCTTTGCTGAAA	0.388000													9	45					0	0	0.006214	0	0
IGHV2-70	28454	broad.mit.edu	37	14	107178989	107178989	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:107178989C>T	ENST00000390634.2	-	0	263																											CAGGGCCTTCCCTGGGGGCTG	0.532000													6	65					0	0	0.001984	0	0
C8A	731	broad.mit.edu	37	1	57347219	57347219	+	Missense_Mutation	SNP	G	G	A	rs147003861		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:57347219G>A	ENST00000361249.3	+	5	662	c.566G>A	c.(565-567)cGa>cAa	p.R189Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	189	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AGGGAGCTTCGATATGACTCC	0.453000													12	61					0	0	0.002450	0	0
PMS2	5395	broad.mit.edu	37	7	6026496	6026496	+	Missense_Mutation	SNP	G	G	A	rs144489994		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:6026496G>A	ENST00000265849.7	-	11	2005	c.1900C>T	c.(1900-1902)Cat>Tat	p.H634Y	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.H528Y|PMS2_ENST00000406569.3_Intron	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	634					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TGTGCTTCATGATGTAACTGC	0.398000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				15	85					0	0	0.004007	0	0
ICA1	3382	broad.mit.edu	37	7	8198255	8198255	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:8198255T>A	ENST00000402384.3	-	7	873	c.607A>T	c.(607-609)Aaa>Taa	p.K203*	ICA1_ENST00000407906.1_Nonsense_Mutation_p.K203*|ICA1_ENST00000406470.2_Nonsense_Mutation_p.K203*|ICA1_ENST00000396675.3_Nonsense_Mutation_p.K203*|ICA1_ENST00000422063.2_Nonsense_Mutation_p.K203*|ICA1_ENST00000401396.1_Nonsense_Mutation_p.K191*|ICA1_ENST00000265577.7_Nonsense_Mutation_p.K202*			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	203	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TCAAAGTTTTTTTTTGCAAGG	0.388000													5	37					0	0	0.000602	0	0
OR2M7	391196	broad.mit.edu	37	1	248487068	248487068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248487068G>A	ENST00000317965.2	-	1	831	c.803C>T	c.(802-804)cCt>cTt	p.P268L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCCTGCATAGGAGAATGATG	0.463000													9	68					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179431214	179431214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179431214C>T	ENST00000589042.1	-	326	79869	c.79645G>A	c.(79645-79647)Gaa>Aaa	p.E26549K	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17484K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E23981K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17676K|TTN_ENST00000359218.5_Missense_Mutation_p.E17609K|TTN_ENST00000591111.1_Missense_Mutation_p.E24908K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24908	Fibronectin type-III 93.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGAAATTTCAAATCGAGTG	0.418000													28	93					0	0	0.007291	0	0
LYST	1130	broad.mit.edu	37	1	235840451	235840451	+	Missense_Mutation	SNP	G	G	A	rs138111566	by1000genomes	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:235840451G>A	ENST00000389794.3	-	50	11152	c.10978C>T	c.(10978-10980)Cct>Tct	p.P3660S	LYST_ENST00000389793.2_Missense_Mutation_p.P3660S|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3660					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GCTGTGACAGGGCTTTTGTGT	0.423000													11	77					0	0	0.002450	0	0
GPR98	84059	broad.mit.edu	37	5	89924621	89924621	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:89924621G>A	ENST00000405460.2	+	8	1577	c.1481G>A	c.(1480-1482)gGa>gAa	p.G494E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	494					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACAATACGAGGAGGTGCAGAA	0.428000													7	16					0	0	0.003080	0	0
TMEM175	84286	broad.mit.edu	37	4	947123	947123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:947123C>T	ENST00000264771.4	+	8	793	c.608C>T	c.(607-609)tCt>tTt	p.S203F	TMEM175_ENST00000515740.1_Missense_Mutation_p.S87F|TMEM175_ENST00000508204.1_Missense_Mutation_p.S121F|TMEM175_ENST00000504180.1_3'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	203						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCCATCTTCTCTCTCTTCTTT	0.642000													6	28					0	0	0.001168	0	0
MADD	8567	broad.mit.edu	37	11	47304127	47304127	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:47304127C>T	ENST00000342922.4	+	9	2022	c.1665C>T	c.(1663-1665)atC>atT	p.I555I	MADD_ENST00000489415.1_3'UTR|MADD_ENST00000407859.3_Silent_p.I555I|MADD_ENST00000402799.1_Silent_p.I555I|MADD_ENST00000349238.3_Silent_p.I555I|MADD_ENST00000402192.2_Silent_p.I555I|MADD_ENST00000395336.3_Silent_p.I555I|MADD_ENST00000311027.5_Silent_p.I555I|MADD_ENST00000406482.1_Silent_p.I555I|MADD_ENST00000395344.3_Silent_p.I555I	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	555	dDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GGGAATGGATCCTTAACCCCA	0.537000													5	21					0	0	0.000602	0	0
GPR110	266977	broad.mit.edu	37	6	46979809	46979809	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:46979809C>T	ENST00000371253.2	-	10	1265	c.1050G>A	c.(1048-1050)tcG>tcA	p.S350S	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.S153S	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	350					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TGCTCAGAATCGACACCACCG	0.488000													22	33					0	0	0.001882	0	0
HTR1D	3352	broad.mit.edu	37	1	23520593	23520593	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:23520593G>A	ENST00000374619.1	-	1	629	c.120C>T	c.(118-120)tcC>tcT	p.S40S	HTR1D_ENST00000314113.3_Silent_p.S40S	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	40					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCACGGCAAGGGAGATCTTGA	0.582000													6	78					0	0	0.001168	0	0
RECQL5	9400	broad.mit.edu	37	17	73625423	73625423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:73625423G>A	ENST00000317905.5	-	16	2239	c.2080C>T	c.(2080-2082)Ccg>Tcg	p.P694S	RECQL5_ENST00000423245.2_Missense_Mutation_p.P667S|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	694					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGCCGGCTCGGGGGCTCGTGC	0.701000								Other identified genes with known or suspected DNA repair function					8	28					0	0	0.000978	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432470	104432470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:104432470C>T	ENST00000361820.3	-	3	2824	c.2224G>A	c.(2224-2226)Gga>Aga	p.G742R		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	742					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGAAACCTTCCAGTCCAACAT	0.423000													15	36					0	0	0.004007	0	0
GAS7	8522	broad.mit.edu	37	17	9820631	9820631	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:9820631G>A	ENST00000396115.1	-	14	1475	c.1165C>T	c.(1165-1167)Cga>Tga	p.R389*	GAS7_ENST00000580865.1_Nonsense_Mutation_p.R309*|GAS7_ENST00000579158.1_Nonsense_Mutation_p.R401*|GAS7_ENST00000323816.4_Nonsense_Mutation_p.R385*|GAS7_ENST00000432992.2_Nonsense_Mutation_p.R449*|GAS7_ENST00000437099.2_Nonsense_Mutation_p.R385*|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000540214.1_Nonsense_Mutation_p.R154*|GAS7_ENST00000585266.1_Nonsense_Mutation_p.R385*|GAS7_ENST00000542249.1_Nonsense_Mutation_p.R394*	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	449					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TCCACTTTTCGAAGCAGCTGA	0.582000			T	MLL	AML*								7	44					0	0	0.006214	0	0
SH2D3C	10044	broad.mit.edu	37	9	130507109	130507109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:130507109C>T	ENST00000314830.8	-	7	1647	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	SH2D3C_ENST00000373274.3_Missense_Mutation_p.E352K|SH2D3C_ENST00000429553.1_Missense_Mutation_p.E158K|SH2D3C_ENST00000420366.1_Missense_Mutation_p.E354K|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373276.3_Missense_Mutation_p.E444K|SH2D3C_ENST00000373277.4_Missense_Mutation_p.E355K	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	512					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGGAGGTCTCAGTCGCTGCC	0.632000													17	105					0	0	0.006122	0	0
ABCB11	8647	broad.mit.edu	37	2	169874613	169874613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:169874613C>T	ENST00000263817.6	-	2	147	c.23G>A	c.(22-24)cGa>cAa	p.R8Q		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	8					bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTTTATACTTCGAAGAATTAC	0.363000													6	47					0	0	0.001168	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22363196	22363196	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:22363196C>T	ENST00000390438.2	+	0	455																											CTGAGTACTTCTGTGCTGTGA	0.478000													5	33					0	0	0.000602	0	0
UGT2B15	7366	broad.mit.edu	37	4	69512998	69512998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:69512998C>T	ENST00000338206.5	-	6	1426	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	473					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TGCTTGGCTCCTTTGTGGCGC	0.483000													20	89					0	0	0.001882	0	0
TARS2	80222	broad.mit.edu	37	1	150469306	150469306	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:150469306C>T	ENST00000369064.3	+	9	976	c.942C>T	c.(940-942)ttC>ttT	p.F314F	TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000369054.2_Intron|TARS2_ENST00000606933.1_Intron|TARS2_ENST00000463555.1_Intron	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	314					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TCTTCTTCTTCCATGAACTGA	0.537000													8	39					0	0	0.008291	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626859	108626859	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:108626859G>A	ENST00000264047.2	+	9	1561	c.1285G>A	c.(1285-1287)Gga>Aga	p.G429R	SLC5A7_ENST00000409059.1_Missense_Mutation_p.G429R|SLC5A7_ENST00000540517.1_Missense_Mutation_p.G324R	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	429					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTTTGTTAAGGGAACCAACAC	0.488000													7	41					0	0	0.001984	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54649092	54649092	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:54649092C>T	ENST00000230640.5	+	14	1782	c.1528C>T	c.(1528-1530)Cga>Tga	p.R510*	SKIV2L2_ENST00000545714.1_Nonsense_Mutation_p.R409*	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	510	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GAAGGATTTCCGATGGGTAAG	0.353000													6	50					0	0	0.001168	0	0
KIF2B	84643	broad.mit.edu	37	17	51900847	51900847	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:51900847G>A	ENST00000268919.4	+	1	609	c.453G>A	c.(451-453)tgG>tgA	p.W151*		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	151					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCTGCCTCTGGGAAATCCAGA	0.562000													6	69					0	0	0.001168	0	0
PCDHA6	56142	broad.mit.edu	37	5	140207946	140207946	+	Silent	SNP	C	C	T	rs140846988	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140207946C>T	ENST00000529310.1	+	1	384	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHA6_ENST00000527624.1_Silent_p.I90I|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGCGAGG	0.602000													23	146					0	0	0.006320	0	0
TLR4	7099	broad.mit.edu	37	9	120475982	120475982	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:120475982A>T	ENST00000355622.6	+	3	1677	c.1576A>T	c.(1576-1578)Aat>Tat	p.N526Y	TLR4_ENST00000394487.4_Missense_Mutation_p.N486Y|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	526					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TCAGGTACTAAATATGAGCCA	0.428000													5	43					0	0	0.000602	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70740419	70740419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:70740419G>A	ENST00000370944.4	-	11	1691	c.1378C>T	c.(1378-1380)Ccc>Tcc	p.P460S	ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Missense_Mutation_p.P425S	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	460					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						ATCCCTAAGGGAAATTCCTGG	0.383000													10	141					0	0	0.000978	0	0
ACSM2B	348158	broad.mit.edu	37	16	20551980	20551980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:20551980C>T	ENST00000329697.6	-	13	1793	c.1625G>A	c.(1624-1626)aGa>aAa	p.R542K	ACSM2B_ENST00000565232.1_Missense_Mutation_p.R542K|ACSM2B_ENST00000565322.1_Missense_Mutation_p.R463K|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R542K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	542	Coenzyme A binding (By similarity).				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTACCTTTCTTGGGTACTT	0.468000													28	56					0	0	0.002445	0	0
INPP5B	3633	broad.mit.edu	37	1	38355352	38355352	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:38355352G>A	ENST00000373023.2	-	9	1007	c.914C>T	c.(913-915)tCc>tTc	p.S305F	INPP5B_ENST00000373026.1_Missense_Mutation_p.S305F|INPP5B_ENST00000373027.1_Missense_Mutation_p.S61F|INPP5B_ENST00000373024.3_Missense_Mutation_p.S225F	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	305					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGTGATAGTGGAGGAGCGAAC	0.393000													17	82					0	0	0.008871	0	0
CXCL9	4283	broad.mit.edu	37	4	76928579	76928579	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:76928579G>A	ENST00000264888.5	-	1	62	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	8					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGCCCAAGAGGAAAAGAACAC	0.398000													8	87					0	0	0.004482	0	0
TRANK1	9881	broad.mit.edu	37	3	36872578	36872578	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:36872578C>T	ENST00000429976.2	-	21	8611	c.8364G>A	c.(8362-8364)gtG>gtA	p.V2788V	TRANK1_ENST00000428977.2_Silent_p.V2238V|TRANK1_ENST00000301807.6_Silent_p.V2238V			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2788					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCTGGTAGGCCACTTGCTGCC	0.527000													14	102					0	0	0.001855	0	0
SYT10	341359	broad.mit.edu	37	12	33592367	33592367	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:33592367A>T	ENST00000228567.3	-	1	387	c.91T>A	c.(91-93)Tgg>Agg	p.W31R	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	31						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CACTTCTCCCACTCCACCTGG	0.642000													6	115					0	0	0.001168	0	0
DNAH11	8701	broad.mit.edu	37	7	21695476	21695476	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:21695476C>T	ENST00000328843.6	+	29	5017	c.4986C>T	c.(4984-4986)ttC>ttT	p.F1662F	DNAH11_ENST00000409508.3_Silent_p.F1657F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1662	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCAAACTTTTCGACAGCATTG	0.383000									Kartagener syndrome				4	29					0	0	0.000248	0	0
PCSK9	255738	broad.mit.edu	37	1	55521730	55521730	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:55521730C>T	ENST00000302118.5	+	6	1154	c.864C>T	c.(862-864)ccC>ccT	p.P288P	PCSK9_ENST00000543384.1_Silent_p.P88P|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	288	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TGCTGCTGCCCCTGGCGGGTG	0.677000													14	170					0	0	0.003163	0	0
FAM50B	26240	broad.mit.edu	37	6	3850990	3850990	+	Silent	SNP	C	C	T	rs149589937		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:3850990C>T	ENST00000380274.1	+	1	1371	c.945C>T	c.(943-945)ccC>ccT	p.P315P	FAM50B_ENST00000380272.3_Silent_p.P315P			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	315						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CCTATGACCCCGAGAAGAAGT	0.622000													12	38					0	0	0.002450	0	0
LRRC52	440699	broad.mit.edu	37	1	165532895	165532895	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:165532895G>A	ENST00000294818.1	+	2	1066	c.776G>A	c.(775-777)gGa>gAa	p.G259E	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	259						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TTCGCCGCGGGAACTGTGGCT	0.592000													5	34					0	0	0.001984	0	0
AOAH	313	broad.mit.edu	37	7	36677509	36677509	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:36677509C>T	ENST00000431169.1	-	5	698	c.398G>A	c.(397-399)tGg>tAg	p.W133*	AOAH_ENST00000258749.5_Nonsense_Mutation_p.W133*|AOAH_ENST00000535891.1_Nonsense_Mutation_p.W101*	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	133					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TGTAAATTTCCATGTCTCCTA	0.363000													4	22					0	0	0.000248	0	0
PRKCQ	5588	broad.mit.edu	37	10	6472820	6472820	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:6472820C>T	ENST00000263125.5	-	17	2016	c.1917G>A	c.(1915-1917)tgG>tgA	p.W639*	PRKCQ_ENST00000539722.1_Nonsense_Mutation_p.W514*|PRKCQ_ENST00000397176.2_Nonsense_Mutation_p.W576*	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	639	AGC-kinase C-terminal.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CAAGTTCCTCCCAGTTGATCT	0.597000													5	26					0	0	0.000602	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101762035	101762035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:101762035C>T	ENST00000334289.3	-	9	1737	c.1142G>A	c.(1141-1143)aGa>aAa	p.R381K		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	381	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		ATTGTACATTCTTCTAATTTT	0.289000													11	37					0	0	0.001855	0	0
SCN10A	6336	broad.mit.edu	37	3	38753813	38753813	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:38753813A>C	ENST00000449082.2	-	22	3927	c.3928T>G	c.(3928-3930)Tgc>Ggc	p.C1310G		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1310					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TAGTTGATGCACCTCCAAAAC	0.478000													6	63					0	0	0.001984	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202464720	202464720	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:202464720T>G	ENST00000406302.3	+	17	2511	c.2358T>G	c.(2356-2358)gaT>gaG	p.D786E	PPP1R12B_ENST00000391959.3_Missense_Mutation_p.D12E|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000367270.4_Missense_Mutation_p.D12E|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.D786E	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	786					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGATTTGGATGAGCAGTCCT	0.478000													3	32					0	0	0.004672	0	0
TOM1L1	10040	broad.mit.edu	37	17	53014581	53014581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:53014581G>A	ENST00000575882.1	+	10	1380	c.1027G>A	c.(1027-1029)Ggc>Agc	p.G343S	TOM1L1_ENST00000570371.1_Missense_Mutation_p.G343S|TOM1L1_ENST00000540336.1_Missense_Mutation_p.G231S|TOM1L1_ENST00000575333.1_Missense_Mutation_p.G343S|TOM1L1_ENST00000348161.4_Missense_Mutation_p.G266S|TOM1L1_ENST00000572158.1_Missense_Mutation_p.G336S|TOM1L1_ENST00000445275.2_Missense_Mutation_p.G343S|TOM1L1_ENST00000536554.1_Missense_Mutation_p.G266S	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	343					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TCAACTTTCAGGCTTAAGTAA	0.453000													6	70					0	0	0.001984	0	0
KRT37	8688	broad.mit.edu	37	17	39577662	39577662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:39577662C>T	ENST00000225550.3	-	6	1197	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	400	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GTGGCAATCTCGTTCTCCAAC	0.557000													4	34					0	0	0.000602	0	0
SLC13A4	26266	broad.mit.edu	37	7	135377165	135377165	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:135377165C>T	ENST00000354042.4	-	11	1815	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	C7orf73_ENST00000422968.1_3'UTR	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	376						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GTCACCATTTCTGGGTAGCTA	0.418000													13	22					0	0	0.001855	0	0
GOPC	57120	broad.mit.edu	37	6	117888030	117888030	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:117888030G>A	ENST00000535237.1	-	8	1474	c.1245C>T	c.(1243-1245)atC>atT	p.I415I	GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000052569.6_Silent_p.I407I|DCBLD1_ENST00000296955.8_Intron|GOPC_ENST00000368498.2_Silent_p.I415I					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		GTAATACTTTGATTTCCCCAC	0.333000			O	ROS1	glioblastoma								5	23					0	0	0.001168	0	0
FAM76B	143684	broad.mit.edu	37	11	95512104	95512104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:95512104G>A	ENST00000358780.5	-	8	1022	c.710C>T	c.(709-711)tCa>tTa	p.S237L	FAM76B_ENST00000536839.1_Missense_Mutation_p.S236L	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	237										breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACTATCTGCTGACTGATTTAT	0.348000													6	15					0	0	0.001168	0	0
CHD6	84181	broad.mit.edu	37	20	40118549	40118549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:40118549G>A	ENST00000373233.3	-	12	1726	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S	CHD6_ENST00000309279.7_Missense_Mutation_p.P517S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	517	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.P517S(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTGGAGAGAGGGGCGATAATG	0.507000													6	71					0	0	0.001168	0	0
IL27RA	9466	broad.mit.edu	37	19	14157400	14157400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:14157400C>T	ENST00000263379.2	+	8	1236	c.1111C>T	c.(1111-1113)Ccc>Tcc	p.P371S		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	371	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GGTCCGGCTTCCCCCTGGGAA	0.622000													5	52					0	0	0.000602	0	0
QRICH2	84074	broad.mit.edu	37	17	74283970	74283970	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:74283970C>T	ENST00000262765.5	-	6	3488	c.3309G>A	c.(3307-3309)agG>agA	p.R1103R		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1103							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TCCTCTGCAGCCTTTCCACCT	0.577000													5	46					0	0	0.000602	0	0
DNMBP	23268	broad.mit.edu	37	10	101637062	101637062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:101637062C>T	ENST00000342239.3	-	17	4743	c.4652G>A	c.(4651-4653)cGa>cAa	p.R1551Q	DNMBP_ENST00000324109.4_Missense_Mutation_p.R1527Q|DNMBP_ENST00000540316.1_Missense_Mutation_p.R463Q|DNMBP_ENST00000543621.1_Missense_Mutation_p.R773Q			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1527	SH3 6.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATTTGGGTTTCGTGCCTTGAA	0.468000													9	112					0	0	0.001855	0	0
CUBN	8029	broad.mit.edu	37	10	17157512	17157512	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:17157512G>A	ENST00000377833.4	-	7	743	c.678C>T	c.(676-678)gtC>gtT	p.V226V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	226					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGATGCCATGGACACAGCGTG	0.542000													4	37					0	0	0.000602	0	0
ACOT9	23597	broad.mit.edu	37	X	23723117	23723117	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:23723117G>A	ENST00000379303.5	-	14	1228	c.1100C>T	c.(1099-1101)tCt>tTt	p.S367F	ACOT9_ENST00000336430.7_Missense_Mutation_p.S358F|ACOT9_ENST00000379295.1_Missense_Mutation_p.S298F	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	358					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						TACCTGTGAAGAAAGAAAGAG	0.403000													6	30					0	0	0.001168	0	0
TRANK1	9881	broad.mit.edu	37	3	36872577	36872577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:36872577C>T	ENST00000429976.2	-	21	8612	c.8365G>A	c.(8365-8367)Gcc>Acc	p.A2789T	TRANK1_ENST00000428977.2_Missense_Mutation_p.A2239T|TRANK1_ENST00000301807.6_Missense_Mutation_p.A2239T			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2789					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCTGGTAGGCCACTTGCTGC	0.527000													14	103					0	0	0.001855	0	0
TEAD4	7004	broad.mit.edu	37	12	3120219	3120219	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:3120219C>T	ENST00000359864.2	+	4	466	c.276C>T	c.(274-276)acC>acT	p.T92T	TEAD4_ENST00000397122.2_5'UTR|TEAD4_ENST00000358409.2_Silent_p.T92T	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	92					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CAGGGAAGACCCGCACCAGGA	0.637000													7	64					0	0	0.001984	0	0
SRRM1	10250	broad.mit.edu	37	1	24979433	24979433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:24979433C>T	ENST00000323848.9	+	8	1265	c.950C>T	c.(949-951)cCa>cTa	p.P317L	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_Missense_Mutation_p.P186L|SRRM1_ENST00000447431.2_Missense_Mutation_p.P317L|SRRM1_ENST00000374389.4_Missense_Mutation_p.P312L	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	317	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CGGCCAAGCCCAAGAAGGCGG	0.463000													6	40					0	0	0.001984	0	0
CIT	11113	broad.mit.edu	37	12	120241180	120241180	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:120241180G>A	ENST00000392521.2	-	10	1180	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	CIT_ENST00000261833.7_Silent_p.F375F	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	375	AGC-kinase C-terminal.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GGGTGGGAACGAAGGGGGGAG	0.502000													7	66					0	0	0.001984	0	0
ADARB1	104	broad.mit.edu	37	21	46624512	46624512	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:46624512C>T	ENST00000539173.1	+	10	2163	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000389863.4_Silent_p.F576F|ADARB1_ENST00000360697.3_Silent_p.F576F|ADARB1_ENST00000348831.4_Silent_p.F536F	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	576	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		TCAGCATTTTCGTGGAGCCCA	0.582000													19	45					0	0	0.001882	0	0
TADA2A	6871	broad.mit.edu	37	17	35783643	35783643	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:35783643C>T	ENST00000394395.2	+	3	233	c.60C>T	c.(58-60)tgC>tgT	p.C20C	TADA2A_ENST00000417170.1_Silent_p.C20C|TADA2A_ENST00000586023.1_Silent_p.C20C|TADA2A_ENST00000225396.6_Silent_p.C20C	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	20	Cys-rich.				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						GCCGAGGCTGCTCCTCCTACC	0.463000													13	105					0	0	0.004007	0	0
OASL	8638	broad.mit.edu	37	12	121458587	121458587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:121458587G>A	ENST00000257570.5	-	6	1592	c.1322C>T	c.(1321-1323)cCt>cTt	p.P441L	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	441	Ubiquitin-like 2.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCCACCATCAGGATTCTTCAC	0.532000													5	123					0	0	0.001168	0	0
ABCA13	154664	broad.mit.edu	37	7	48349707	48349707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:48349707G>A	ENST00000435803.1	+	24	9509	c.9485G>A	c.(9484-9486)cGa>cAa	p.R3162Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3162					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTGCTGAGTCGAAACTTGGAT	0.507000													31	203					0	0	0.004878	0	0
AXIN2	8313	broad.mit.edu	37	17	63554134	63554134	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:63554134C>T	ENST00000307078.5	-	2	918	c.605G>A	c.(604-606)aGt>aAt	p.S202N	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000375702.5_Missense_Mutation_p.S202N	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	202					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTCTCCCCCACTCCTCACATA	0.488000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				10	59					0	0	0.006214	0	0
ERBB2	2064	broad.mit.edu	37	17	37866370	37866370	+	Silent	SNP	C	C	T	rs140636713		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:37866370C>T	ENST00000406381.2	+	8	1095	c.585C>T	c.(583-585)gcC>gcT	p.A195A	ERBB2_ENST00000541774.1_Silent_p.A210A|ERBB2_ENST00000540042.1_Silent_p.A195A|ERBB2_ENST00000584450.1_Silent_p.A225A|ERBB2_ENST00000584601.1_Silent_p.A195A|ERBB2_ENST00000540147.1_Silent_p.A195A|ERBB2_ENST00000578199.1_Silent_p.A195A|ERBB2_ENST00000269571.5_Silent_p.A225A|ERBB2_ENST00000445658.2_Intron	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	225					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GTGGCTGTGCCCGCTGCAAGG	0.647000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			4	63					0	0	0.000248	0	0
A2M	2	broad.mit.edu	37	12	9264775	9264775	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:9264775A>T	ENST00000318602.7	-	4	770	c.463T>A	c.(463-465)Ttt>Att	p.F155I		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	155					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	AGGGGGTGAAAGTTTTCATCC	0.408000													12	39					0	0	0.001855	0	0
CCDC13	152206	broad.mit.edu	37	3	42784515	42784515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:42784515C>T	ENST00000310232.6	-	8	943	c.860G>A	c.(859-861)cGg>cAg	p.R287Q	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	287										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						AGACTGGCTCCGGGCCTGGCC	0.547000													38	110					0	0	0.002222	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800528	185800528	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:185800528C>T	ENST00000302277.6	+	4	999	c.405C>T	c.(403-405)ccC>ccT	p.P135P		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	135						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAAGTGGCCCCATGTTCAAAT	0.333000													4	30					0	0	0.000602	0	0
SNHG14	104472715	broad.mit.edu	37	15	25488769	25488769	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:25488769G>A	ENST00000453082.2	+	0	2332				SNORD115-40_ENST00000606510.1_RNA	NR_003343.1																						TTGGGTCGATGATGAGAACCT	0.517000													33	139					0	0	0.003271	0	0
PYGL	5836	broad.mit.edu	37	14	51378726	51378726	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:51378726G>A	ENST00000216392.7	-	15	2129	c.1797C>T	c.(1795-1797)ttC>ttT	p.F599F	PYGL_ENST00000544180.2_Silent_p.F565F|PYGL_ENST00000532462.1_Silent_p.F599F	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	599					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TCCTTGGCACGAATAACTTCT	0.433000													10	51					0	0	0.008291	0	0
GHDC	84514	broad.mit.edu	37	17	40344388	40344388	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:40344388G>A	ENST00000301671.8	-	4	1201	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	GHDC_ENST00000414034.3_Missense_Mutation_p.R254W|GHDC_ENST00000587427.1_Missense_Mutation_p.R254W|GHDC_ENST00000428494.2_Missense_Mutation_p.R215W|GHDC_ENST00000593209.1_Missense_Mutation_p.R254W|GHDC_ENST00000436923.2_Missense_Mutation_p.R254W			Q8N2G8	GHDC_HUMAN	GH3 domain containing	254						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GGCCAGAGCCGAAGGGCCAGT	0.687000													7	69					0	0	0.001984	0	0
AKR1C3	8644	broad.mit.edu	37	10	5138605	5138605	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:5138605C>T	ENST00000380554.3	+	2	740	c.88C>T	c.(88-90)Ccg>Tcg	p.P30S	AKR1C3_ENST00000605149.1_Missense_Mutation_p.P7S|AKR1C3_ENST00000470862.2_3'UTR|AKR1C3_ENST00000439082.2_5'UTR	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	30					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	CCTCCAGGTTCCGAGAAGTAA	0.433000													4	22					0	0	0.000602	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37729769	37729769	+	Missense_Mutation	SNP	C	C	T	rs148745763	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:37729769C>T	ENST00000330843.4	-	4	2563	c.2551G>A	c.(2551-2553)Gga>Aga	p.G851R	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	851					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	p.G851R(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GGAGGCTCTCCGTCAGACGCG	0.637000													5	35					0	0	0.001168	0	0
KMT2D	8085	broad.mit.edu	37	12	49445952	49445952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:49445952G>A	ENST00000301067.7	-	10	1513	c.1514C>T	c.(1513-1515)cCc>cTc	p.P505L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TTCAGGTGGGGGAGACAGAGG	0.612000													16	45					0	0	0.003163	0	0
SREBF2	6721	broad.mit.edu	37	22	42263110	42263110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:42263110C>T	ENST00000361204.4	+	2	530	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	122	Gly/Pro/Ser-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CACCTCAGTTCCCACCACACC	0.582000													18	72					0	0	0.004990	0	0
KIAA0430	9665	broad.mit.edu	37	16	15730019	15730019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:15730019G>A	ENST00000396368.3	-	3	531	c.325C>T	c.(325-327)Ccc>Tcc	p.P109S	KIAA0430_ENST00000551742.1_Missense_Mutation_p.P109S|KIAA0430_ENST00000548025.1_Missense_Mutation_p.P109S|KIAA0430_ENST00000602337.1_Missense_Mutation_p.P109S|KIAA0430_ENST00000540441.2_Missense_Mutation_p.P109S|KIAA0430_ENST00000344181.3_5'UTR	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	108						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GAAGTGGAGGGTTCATTAGGG	0.527000													15	59					0	0	0.006122	0	0
SLC19A3	80704	broad.mit.edu	37	2	228564158	228564158	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:228564158G>A	ENST00000258403.3	-	3	344	c.273C>T	c.(271-273)atC>atT	p.I91I	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Silent_p.I87I	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	91					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	p.I91I(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GCCAGGTAATGATGAAACTGA	0.517000													21	100					0	0	0.001882	0	0
ZAN	7455	broad.mit.edu	37	7	100361455	100361455	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:100361455C>T	ENST00000542585.1	+	0	4161				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTGGTGAATTCCCCGTCTTGT	0.557000													16	109					0	0	0.006122	0	0
F8A1	8263	broad.mit.edu	37	X	154115746	154115746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:154115746C>T	ENST00000369446.2	+	1	1112	c.1097C>T	c.(1096-1098)cCc>cTc	p.P366L	F8_ENST00000360256.4_Intron	NM_012151.3	NP_036283.2			coagulation factor VIII-associated 1											endometrium(1)|lung(1)	2	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACCATCTCCCCCTCAGGACAG	0.532000													18	179					0	0	0.003954	0	0
CHRM3	1131	broad.mit.edu	37	1	240071162	240071162	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:240071162G>A	ENST00000255380.4	+	5	1190	c.411G>A	c.(409-411)ggG>ggA	p.G137G		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	137					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GGGCCTTAGGGAACTTGGCCT	0.463000													4	58					0	0	0.000602	0	0
CFH	3075	broad.mit.edu	37	1	196695653	196695653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:196695653G>A	ENST00000367429.4	+	13	2167	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	643	Sushi 11.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GAATGTTAAGGAAAAAACGAA	0.343000													9	26					0	0	0.006214	0	0
LPA	4018	broad.mit.edu	37	6	160977125	160977125	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:160977125C>T	ENST00000447678.1	-	31	5025	c.4905G>A	c.(4903-4905)agG>agA	p.R1635R	LPA_ENST00000316300.5_Silent_p.R1635R	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4143	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATTGACATGTCCTTCCTGTGA	0.488000													14	53					0	0	0.004990	0	0
MFAP1	4236	broad.mit.edu	37	15	44105298	44105298	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:44105298G>A	ENST00000267812.3	-	6	1006	c.774C>T	c.(772-774)tcC>tcT	p.S258S		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	258						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		ATGCAGCCAGGGATCGCTTGT	0.443000													29	155					0	0	0.006320	0	0
DNAH9	1770	broad.mit.edu	37	17	11872808	11872808	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:11872808G>A	ENST00000262442.3	+	69	13493	c.13425G>A	c.(13423-13425)tgG>tgA	p.W4475*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.W4399*|DNAH9_ENST00000396001.2_Nonsense_Mutation_p.W787*|RP11-1096G20.5_ENST00000580270.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4475					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CATCCAAGTGGGTTCTGGCTG	0.527000													3	19					0	0	0.000248	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255890	140255890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140255890C>T	ENST00000398631.2	+	1	833	c.833C>T	c.(832-834)tCc>tTc	p.S278F	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.S278F(2)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAATTTCCTATGGGATC	0.368000													6	88					0	0	0.003080	0	0
GPR112	139378	broad.mit.edu	37	X	135405401	135405401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:135405401C>T	ENST00000394143.1	+	5	826	c.535C>T	c.(535-537)Cct>Tct	p.P179S	GPR112_ENST00000412101.1_Intron|GPR112_ENST00000287534.4_Missense_Mutation_p.P116S|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.P179S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	179					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCGTAGCTTTCCTGGCAGCTT	0.448000													22	36					0	0	0.003330	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862090	25862090	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:25862090G>A	ENST00000397060.4	-	4	580	c.471C>T	c.(469-471)atC>atT	p.I157I	SLC17A3_ENST00000360657.3_Intron|SLC17A3_ENST00000361703.6_Intron	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	308					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TGGCCAGAGGGATGCATAGAG	0.443000													5	19					0	0	0.001168	0	0
PAPPA	5069	broad.mit.edu	37	9	119093563	119093563	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:119093563C>T	ENST00000328252.3	+	11	3557	c.3188C>T	c.(3187-3189)tCc>tTc	p.S1063F	PAPPA_ENST00000534838.1_Missense_Mutation_p.S101F	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1063					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GAAGGCATTTCCCAGCATGCC	0.443000													14	61					0	0	0.003163	0	0
DOPEY1	23033	broad.mit.edu	37	6	83872624	83872624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:83872624C>T	ENST00000349129.2	+	38	7338	c.7078C>T	c.(7078-7080)Cgg>Tgg	p.R2360W	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.R2351W|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R2244W	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2360					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAAACTTCTTCGGAAAAGAGC	0.378000													17	62					0	0	0.007413	0	0
PRDM2	7799	broad.mit.edu	37	1	14059318	14059318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:14059318C>T	ENST00000235372.7	+	4	1028	c.172C>T	c.(172-174)Cca>Tca	p.P58S	PRDM2_ENST00000311066.5_Missense_Mutation_p.P58S|PRDM2_ENST00000376048.5_Missense_Mutation_p.P58S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	58	SET.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAAATTTGGGCCATTTGTTGG	0.289000													4	44					0	0	0.000602	0	0
CEP104	9731	broad.mit.edu	37	1	3753249	3753249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:3753249G>A	ENST00000378230.3	-	10	1451	c.1127C>T	c.(1126-1128)tCc>tTc	p.S376F	CEP104_ENST00000460038.1_Intron	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	376						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GTAGGGCAGGGACTCTGCCTG	0.552000													6	22					0	0	0.001168	0	0
RNF168	165918	broad.mit.edu	37	3	196198767	196198767	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:196198767A>G	ENST00000318037.3	-	6	2233	c.1639T>C	c.(1639-1641)Tcc>Ccc	p.S547P		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	547					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GCACTTTTGGATACCTTACAG	0.403000													9	98					0	0	0.006214	0	0
OR1F2P	26184	broad.mit.edu	37	16	3265954	3265954	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:3265954C>T	ENST00000576468.1	+	0	418																											TTCCTCCTGGCTGTGATGGCC	0.512000													4	40					0	0	0.000602	0	0
VAX1	11023	broad.mit.edu	37	10	118896121	118896121	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:118896121C>T	ENST00000277905.2	-	2	535	c.291G>A	c.(289-291)ttG>ttA	p.L97L	VAX1_ENST00000369206.5_Silent_p.L97L	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	97						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TAGGCCGGTCCAAGTCCAGGC	0.652000													6	37					0	0	0.001984	0	0
DST	667	broad.mit.edu	37	6	56374636	56374636	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:56374636C>T	ENST00000370754.5	-	74	18722	c.18723G>A	c.(18721-18723)ctG>ctA	p.L6241L	DST_ENST00000244364.6_Silent_p.L3649L|DST_ENST00000370769.4_Silent_p.L6063L|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Silent_p.L3975L|DST_ENST00000446842.2_Silent_p.L5737L|DST_ENST00000340834.4_5'UTR|DST_ENST00000361203.3_Silent_p.L5952L|DST_ENST00000370788.2_Silent_p.L3866L			Q03001	DYST_HUMAN	dystonin	6061					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CGATGCGTTCCAGGCTCTCAA	0.413000													7	40					0	0	0.004482	0	0
CADPS	8618	broad.mit.edu	37	3	62636752	62636752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:62636752G>A	ENST00000383710.4	-	5	1322	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	CADPS_ENST00000490353.2_Missense_Mutation_p.R325C|CADPS_ENST00000357948.3_Missense_Mutation_p.R325C|CADPS_ENST00000283269.9_Missense_Mutation_p.R325C	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	325					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGAAATTTGCGTTCCTTGGGA	0.413000													9	54					0	0	0.004482	0	0
FYCO1	79443	broad.mit.edu	37	3	46009314	46009314	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:46009314C>T	ENST00000296137.2	-	8	1717	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	FYCO1_ENST00000535325.1_Silent_p.L504L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	504					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCTCCTGCTCCAGCAGCTCCT	0.607000													9	78					0	0	0.000978	0	0
SPTB	6710	broad.mit.edu	37	14	65239436	65239436	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:65239436C>T	ENST00000389722.3	-	25	5468	c.5415G>A	c.(5413-5415)acG>acA	p.T1805T	SPTB_ENST00000556626.1_Silent_p.T1805T|SPTB_ENST00000542895.1_Silent_p.T1805T|SPTB_ENST00000389720.3_Silent_p.T1805T|SPTB_ENST00000389721.5_Silent_p.T1805T	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1805					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCTCGGCACCCGTGTAGAAGT	0.657000													11	55					0	0	0.008291	0	0
DNAH17	8632	broad.mit.edu	37	17	76506586	76506586	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:76506586C>T	ENST00000389840.5	-	27	4228	c.4104G>A	c.(4102-4104)gtG>gtA	p.V1368V	DNAH17_ENST00000585328.1_Silent_p.V1369V					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTTTAAATTTCACCTAAGGGA	0.507000													21	35					0	0	0.002299	0	0
CPXM2	119587	broad.mit.edu	37	10	125528156	125528156	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:125528156G>A	ENST00000241305.3	-	9	1339	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	395					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCTGACACACGAACTGCACCA	0.627000													14	83					0	0	0.006122	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175945	140175945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140175945G>A	ENST00000526136.1	+	1	1396	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E466K|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E466K	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCGTGAAGGAGAACAACCC	0.647000													4	47					0	0	0.000602	0	0
ABCC9	10060	broad.mit.edu	37	12	22005418	22005418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:22005418C>T	ENST00000261200.4	-	21	2526	c.2527G>A	c.(2527-2529)Gac>Aac	p.D843N	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.D843N|ABCC9_ENST00000345162.2_Missense_Mutation_p.D807N	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	843	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAGTGAATGTCCAGGGCTGAG	0.378000													4	32					0	0	0.000602	0	0
IFT140	9742	broad.mit.edu	37	16	1570249	1570249	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:1570249G>T	ENST00000426508.2	-	28	4119	c.3756C>A	c.(3754-3756)aaC>aaA	p.N1252K	IFT140_ENST00000361339.5_Missense_Mutation_p.N446K	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1252										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACTGCAGGTAGTTAGCAGCCA	0.572000													32	81					2.05212e-20	2.33239e-20	0.005524	1	0
APOO	79135	broad.mit.edu	37	X	23897068	23897068	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:23897068G>A	ENST00000379226.4	-	3	432	c.201C>T	c.(199-201)ctC>ctT	p.L67L	APOO_ENST00000379220.3_Silent_p.L67L	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	67					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						AATAGTGTCGGAGCTGTGAGA	0.463000													20	21					0	0	0.001882	0	0
GIMAP6	474344	broad.mit.edu	37	7	150324938	150324938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:150324938C>T	ENST00000328902.5	-	3	964	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	250							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACTTGCCTTTCCTGTAGTTCT	0.493000													14	83					0	0	0.002450	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907304	12907304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:12907304C>T	ENST00000317869.6	-	2	1064	c.839G>A	c.(838-840)gGa>gAa	p.G280E		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GTCATCCTCTCCTTCCTCAGC	0.478000													23	186					0	0	0.005443	0	0
SOGA3	387104	broad.mit.edu	37	6	127797475	127797475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:127797475C>T	ENST00000556132.1	-	6	2560	c.1696G>A	c.(1696-1698)Gat>Aat	p.D566N	SOGA3_ENST00000368268.2_Missense_Mutation_p.D566N|SOGA3_ENST00000525778.1_Missense_Mutation_p.D566N|SOGA3_ENST00000465909.2_Missense_Mutation_p.D566N|SOGA3_ENST00000481848.2_Missense_Mutation_p.D566N	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	566						integral to membrane											CTGTCCAGATCCCCATAAAAG	0.502000													5	61					0	0	0.000602	0	0
MCF2L2	23101	broad.mit.edu	37	3	183041031	183041031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:183041031G>A	ENST00000328913.3	-	6	892	c.595C>T	c.(595-597)Cac>Tac	p.H199Y	MCF2L2_ENST00000414362.2_Missense_Mutation_p.H199Y|MCF2L2_ENST00000447025.2_Missense_Mutation_p.H199Y|MCF2L2_ENST00000473233.1_Missense_Mutation_p.H199Y	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	199					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ACAGTGCGGTGATTTACCCAC	0.512000													11	58					0	0	0.002450	0	0
ZBED2	79413	broad.mit.edu	37	3	111312451	111312451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:111312451C>T	ENST00000317012.4	-	2	1606	c.598G>A	c.(598-600)Gag>Aag	p.E200K	CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	200							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						TGGCATGCCTCCTTCTCAGCC	0.522000													4	35					0	0	0.000248	0	0
SI	6476	broad.mit.edu	37	3	164755723	164755723	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:164755723G>A	ENST00000264382.3	-	21	2453	c.2391C>T	c.(2389-2391)atC>atT	p.I797I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	797	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTTGAATGGGGATGATATAAC	0.328000										HNSCC(35;0.089)			4	23					0	0	0.000248	0	0
VN1R4	317703	broad.mit.edu	37	19	53770583	53770583	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:53770583C>T	ENST00000311170.4	-	1	389	c.336G>A	c.(334-336)agG>agA	p.R112R		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	112					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	p.R112R(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		ACCTGGATTTCCTGGAGCTGA	0.498000										HNSCC(26;0.072)			4	17					0	0	0.000602	0	0
BANF2	140836	broad.mit.edu	37	20	17716333	17716333	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:17716333C>T	ENST00000246090.5	+	4	412	c.150C>T	c.(148-150)ttC>ttT	p.F50F	BANF2_ENST00000377805.3_Silent_p.F50F|BANF2_ENST00000467330.1_3'UTR|BANF2_ENST00000545418.2_Silent_p.F57F	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	50						cytoplasm|nucleus	DNA binding			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						TGGGACAATTCCTTCTGATGC	0.542000													11	58					0	0	0.001855	0	0
TMEM201	199953	broad.mit.edu	37	1	9661392	9661392	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:9661392C>T	ENST00000340305.5	+	5	845	c.836C>T	c.(835-837)cCc>cTc	p.P279L	TMEM201_ENST00000377376.4_Missense_Mutation_p.P279L|TMEM201_ENST00000340381.6_Missense_Mutation_p.P279L	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	279						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GGCCTACTCCCCGAGCACATG	0.682000													14	78					0	0	0.003163	0	0
MYOZ1	58529	broad.mit.edu	37	10	75397643	75397643	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:75397643C>T	ENST00000359322.4	-	3	475	c.111G>A	c.(109-111)aaG>aaA	p.K37K		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	37					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					GGACACTGATCTTTTTGCCCA	0.507000													20	143					0	0	0.003330	0	0
SEMA5A	9037	broad.mit.edu	37	5	9190535	9190535	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:9190535G>A	ENST00000382496.5	-	11	1782	c.1117C>T	c.(1117-1119)Ctg>Ttg	p.L373L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	373	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCATCCTGCAGATTTCTCTCG	0.577000													5	24					0	0	0.001168	0	0
PDZD2	23037	broad.mit.edu	37	5	32090662	32090662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:32090662G>A	ENST00000438447.1	+	20	7496	c.7108G>A	c.(7108-7110)Ggg>Agg	p.G2370R	PDZD2_ENST00000282493.3_Missense_Mutation_p.G2370R			O15018	PDZD2_HUMAN	PDZ domain containing 2	2370					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCCTCCCATTGGGAGGCGGTC	0.592000													15	14					0	0	0.002450	0	0
UBE2F	140739	broad.mit.edu	37	2	238881789	238881789	+	Missense_Mutation	SNP	C	C	T	rs139940522		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:238881789C>T	ENST00000272930.4	+	2	234	c.40C>T	c.(40-42)Ctc>Ttc	p.L14F	UBE2F_ENST00000409332.1_Missense_Mutation_p.L14F|UBE2F_ENST00000409953.1_Intron|UBE2F_ENST00000409633.1_Missense_Mutation_p.L14F|UBE2F-SCLY_ENST00000449191.1_Missense_Mutation_p.L14F|UBE2F_ENST00000414443.1_Missense_Mutation_p.L14F	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)	14	Interaction with UBA3.				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		TGACGATGGTCTCAAAGGGTC	0.498000													6	49					0	0	0.001168	0	0
FAT4	79633	broad.mit.edu	37	4	126411233	126411233	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:126411233G>A	ENST00000394329.3	+	17	13269	c.13256G>A	c.(13255-13257)tGg>tAg	p.W4419*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.W2660*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4419					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTAATCAGTGGTATGCCTAC	0.577000													33	88					0	0	0.002096	0	0
SPTA1	6708	broad.mit.edu	37	1	158624530	158624530	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158624530C>T	ENST00000368148.3	-	21	3087	c.2907G>A	c.(2905-2907)caG>caA	p.Q969Q	SPTA1_ENST00000368147.3_Silent_p.Q969Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	969					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGGTGCAGCCTGTTGTTGCT	0.517000													6	35					0	0	0.001168	0	0
TPTE	7179	broad.mit.edu	37	21	10951294	10951294	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:10951294C>T	ENST00000298232.7	-	9	731	c.364G>A	c.(364-366)Gat>Aat	p.D122N	TPTE_ENST00000342420.5_Missense_Mutation_p.D102N|TPTE_ENST00000361285.4_Missense_Mutation_p.D140N|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	140					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.M121_D122>IY(1)|p.M139_D140>IY(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAAGAACATCCATGAGAAAA	0.348000													6	76					0	0	0.001984	0	0
ABCA4	24	broad.mit.edu	37	1	94471042	94471042	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:94471042G>A	ENST00000370225.3	-	44	6188	c.6102C>T	c.(6100-6102)taC>taT	p.Y2034Y	ABCA4_ENST00000535881.1_Silent_p.Y153Y|ABCA4_ENST00000536513.1_Silent_p.Y304Y|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2034	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGCATAAAGGTAAAGATGTT	0.413000													6	76					0	0	0.001984	0	0
GLT6D1	360203	broad.mit.edu	37	9	138517988	138517988	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:138517988C>T	ENST00000371763.1	-	4	437	c.184G>A	c.(184-186)Gac>Aac	p.D62N		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	62					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		ACCCGCCTGTCGAAAGTCCCT	0.507000													7	41					0	0	0.001984	0	0
TRIM69	140691	broad.mit.edu	37	15	45059798	45059798	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:45059798G>A	ENST00000558173.1	+	5	5464	c.719G>A	c.(718-720)gGc>gAc	p.G240D	TRIM69_ENST00000559390.1_Missense_Mutation_p.G444D|TRIM69_ENST00000329464.4_Missense_Mutation_p.G444D|TRIM69_ENST00000561043.1_Missense_Mutation_p.G207D|TRIM69_ENST00000560442.1_Missense_Mutation_p.G240D|TRIM69_ENST00000558329.1_Missense_Mutation_p.G223D|TRIM69_ENST00000338264.4_Missense_Mutation_p.G285D			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	444					apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GACAAGGTGGGCATATACCTG	0.408000													7	47					0	0	0.003080	0	0
AIM1	202	broad.mit.edu	37	6	106967774	106967774	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:106967774C>T	ENST00000369066.3	+	2	1954	c.1467C>T	c.(1465-1467)ttC>ttT	p.F489F		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	489							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TAAGCAGTTTCCCATGCACTG	0.473000													21	58					0	0	0.002780	0	0
SALL4	57167	broad.mit.edu	37	20	50418921	50418921	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:50418921G>A	ENST00000217086.4	-	1	138	c.27C>T	c.(25-27)ccC>ccT	p.P9P	SALL4_ENST00000395997.3_Silent_p.P9P|SALL4_ENST00000371539.3_Silent_p.P9P	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	9					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGATGTGCTGGGGTTTCGCCT	0.672000													5	49					0	0	0.001984	0	0
FBN3	84467	broad.mit.edu	37	19	8155007	8155007	+	Missense_Mutation	SNP	C	C	T	rs149936210		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:8155007C>T	ENST00000600128.1	-	49	6574	c.6160G>A	c.(6160-6162)Gaa>Aaa	p.E2054K	FBN3_ENST00000601739.1_Missense_Mutation_p.E2054K|FBN3_ENST00000270509.2_Missense_Mutation_p.E2054K			Q75N90	FBN3_HUMAN	fibrillin 3	2054	TB 8.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGACACAGTTCGCAGGGGTCT	0.612000													7	21					0	0	0.001984	0	0
HEATR6	63897	broad.mit.edu	37	17	58144948	58144948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:58144948G>A	ENST00000184956.6	-	8	1101	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F	HEATR6_ENST00000585976.1_Missense_Mutation_p.S362F	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	362				SS -> FF (in Ref. 1; BAB15229).			binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			ACCCAGGGAGGAGGGACACCA	0.527000													8	21					0	0	0.003080	0	0
C5	727	broad.mit.edu	37	9	123725049	123725049	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:123725049G>A	ENST00000223642.1	-	36	4433	c.4404C>T	c.(4402-4404)ccC>ccT	p.P1468P		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1468					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AATCACTGGAGGGAATCTGTT	0.348000													12	49					0	0	0.001368	0	0
STRIP2	57464	broad.mit.edu	37	7	129079867	129079867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:129079867C>T	ENST00000249344.2	+	2	174	c.134C>T	c.(133-135)tCt>tTt	p.S45F	STRIP2_ENST00000435494.2_Missense_Mutation_p.S45F	NM_020704.2	NP_065755.1			striatin interacting protein 2																		TTACAGGGCTCTGTGGACTGT	0.473000													7	69					0	0	0.004482	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958437	57958437	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:57958437C>T	ENST00000311591.3	+	1	532	c.475C>T	c.(475-477)Cga>Tga	p.R159*		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TGCCTTTGTTCGAACGGTCAC	0.507000													8	29					0	0	0.004482	0	0
LCK	3932	broad.mit.edu	37	1	32745267	32745267	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:32745267C>T	ENST00000333070.4	+	10	1150	c.1050C>T	c.(1048-1050)ccC>ccT	p.P350P	LCK_ENST00000336890.5_Intron|LCK_ENST00000373564.3_Intron	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	321	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	TGCTTCTGCCCACAGGGAGTC	0.547000			T	TRB@	T-ALL								21	106					0	0	0.001882	0	0
RECQL5	9400	broad.mit.edu	37	17	73625422	73625422	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:73625422G>A	ENST00000317905.5	-	16	2240	c.2081C>T	c.(2080-2082)cCg>cTg	p.P694L	RECQL5_ENST00000423245.2_Missense_Mutation_p.P667L|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	694					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGGCCGGCTCGGGGGCTCGTG	0.701000								Other identified genes with known or suspected DNA repair function					8	28					0	0	0.000978	0	0
ATP8B4	79895	broad.mit.edu	37	15	50366334	50366334	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:50366334A>C	ENST00000284509.6	-	3	218	c.77T>G	c.(76-78)tTc>tGc	p.F26C	ATP8B4_ENST00000559829.1_Missense_Mutation_p.F26C	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	26					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CGCATACTGGAACTTTTCATT	0.378000													5	52					0	0	0.001168	0	0
KCNH5	27133	broad.mit.edu	37	14	63453887	63453887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:63453887C>T	ENST00000322893.7	-	5	720	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	KCNH5_ENST00000394968.1_Missense_Mutation_p.R93Q|KCNH5_ENST00000394964.2_Missense_Mutation_p.R93Q|KCNH5_ENST00000420622.2_Missense_Mutation_p.R151Q	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	151					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCGTGTCAATCGGGCAAATTT	0.378000													9	64					0	0	0.004482	0	0
T	6862	broad.mit.edu	37	6	166580938	166580938	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:166580938C>G	ENST00000296946.2	-	2	610	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	T_ENST00000366871.3_Missense_Mutation_p.E48Q	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	48					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		AGCTCGCTCTCCTCCAGGCCC	0.682000									Chordoma, Familial Clustering of				3	22					0	0	0.000602	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784883	30784883	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:30784883G>A	ENST00000246229.4	-	3	1127	c.863C>T	c.(862-864)gCc>gTc	p.A288V		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	288						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCCAGGGAAGGCCTTGGTCCC	0.607000													8	84					0	0	0.003080	0	0
SLC6A6	6533	broad.mit.edu	37	3	14485316	14485316	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:14485316C>T	ENST00000454876.2	+	3	503	c.174C>T	c.(172-174)ttC>ttT	p.F58F	SLC6A6_ENST00000416216.2_Silent_p.F58F|SLC6A6_ENST00000484191.1_Intron|SLC6A6_ENST00000360861.3_Silent_p.F58F			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	58					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTGGCGGCTTCGTGGGCTTGG	0.627000													10	60					0	0	0.001368	0	0
ETV3	2117	broad.mit.edu	37	1	157105324	157105324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:157105324G>A	ENST00000368192.4	-	3	287	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F	ETV3_ENST00000326786.4_Missense_Mutation_p.L75F|ETV3_ENST00000460850.1_5'UTR	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	75							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				CGGCCCCAGAGGCGGGCCACC	0.542000													7	36					0	0	0.001984	0	0
IL26	55801	broad.mit.edu	37	12	68595632	68595632	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:68595632C>G	ENST00000229134.4	-	5	573	c.509G>C	c.(508-510)aGt>aCt	p.S170T	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	170					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		GGTTTACTGACTGCTTTCCAA	0.294000													4	40					0	0	0.000602	0	0
PDGFC	56034	broad.mit.edu	37	4	157771463	157771463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:157771463C>T	ENST00000502773.1	-	2	714	c.224G>A	c.(223-225)tGg>tAg	p.W75*	PDGFC_ENST00000541126.1_Intron|PDGFC_ENST00000422544.2_Nonsense_Mutation_p.W75*	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	75	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TACTAATCTCCATACCAAGAC	0.388000													5	47					0	0	0.000602	0	0
KEL	3792	broad.mit.edu	37	7	142650939	142650939	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:142650939C>T	ENST00000355265.2	-	9	1503	c.1029G>A	c.(1027-1029)ttG>ttA	p.L343L	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	343					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ACATGTTTTTCAAATATTCCA	0.557000													19	193					0	0	0.008871	0	0
PTPRC	5788	broad.mit.edu	37	1	198685878	198685878	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:198685878G>A	ENST00000367376.2	+	13	1524	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	PTPRC_ENST00000352140.3_Silent_p.T403T|PTPRC_ENST00000594404.1_Silent_p.T290T|PTPRC_ENST00000442510.2_Silent_p.T453T|PTPRC_ENST00000348564.6_Silent_p.T292T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	451	Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AACCTTATACGAAATATGTTT	0.308000													7	55					0	0	0.001984	0	0
FOXD4L5	653427	broad.mit.edu	37	9	70177738	70177738	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:70177738G>T	ENST00000377420.1	-	1	1077	c.246C>A	c.(244-246)gaC>gaA	p.D82E		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	82					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|lung(2)	7						ACTCTGAGGGGTCACTCGGGC	0.692000													25	231					5.61819e-17	6.38351e-17	0.005443	1	0
SERAC1	84947	broad.mit.edu	37	6	158549146	158549146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:158549146G>A	ENST00000367102.2	-	10	1150	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	SERAC1_ENST00000367104.3_Missense_Mutation_p.R337C|SERAC1_ENST00000367101.1_Missense_Mutation_p.R337C			Q96JX3	SRAC1_HUMAN	serine active site containing 1	337					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TTACCTGAGCGAACTATAGAA	0.338000													8	39					0	0	0.004482	0	0
ATP12A	479	broad.mit.edu	37	13	25281459	25281459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:25281459C>T	ENST00000218548.6	+	17	2732	c.2399C>T	c.(2398-2400)tCc>tTc	p.S800F	ATP12A_ENST00000381946.3_Missense_Mutation_p.S794F	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	794					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ATTGCTTATTCCCTGACCAAG	0.512000													10	113					0	0	0.008291	0	0
EPPK1	83481	broad.mit.edu	37	8	144941146	144941146	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:144941146G>A	ENST00000525985.1	-	2	6347	c.6276C>T	c.(6274-6276)tcC>tcT	p.S2092S				P58107	EPIPL_HUMAN	epiplakin 1	2092						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGATGTGCTCGGAGTCCCGTG	0.597000													10	104					0	0	0.008291	0	0
PTPN3	5774	broad.mit.edu	37	9	112185014	112185014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:112185014G>A	ENST00000412145.1	-	8	3280	c.727C>T	c.(727-729)Ccc>Tcc	p.P243S	PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000374541.2_Missense_Mutation_p.P374S|PTPN3_ENST00000262539.3_Intron	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	374	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGAGTAATGGGAGGGGAACGA	0.413000													9	61					0	0	0.008291	0	0
GALNT18	374378	broad.mit.edu	37	11	11314705	11314705	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:11314705C>T	ENST00000227756.4	-	10	1959	c.1548G>A	c.(1546-1548)gtG>gtA	p.V516V		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18									p.V516V(1)									TCAGAATGCCCACATGGATCT	0.582000													6	23					0	0	0.001168	0	0
MFSD6L	162387	broad.mit.edu	37	17	8702212	8702212	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:8702212C>T	ENST00000329805.4	-	1	455	c.227G>A	c.(226-228)aGg>aAg	p.R76K		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	76						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						AAGCGCTCTCCTTTTCCGGTA	0.622000													7	39					0	0	0.001984	0	0
OGDHL	55753	broad.mit.edu	37	10	50953439	50953439	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:50953439T>C	ENST00000374103.4	-	12	1665	c.1580A>G	c.(1579-1581)tAc>tGc	p.Y527C	OGDHL_ENST00000419399.1_Missense_Mutation_p.Y470C|OGDHL_ENST00000432695.1_Missense_Mutation_p.Y318C	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	527					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CTTGTCTGCGTACTTCTTCAG	0.602000													4	28					0	0	0.000248	0	0
NEK4	6787	broad.mit.edu	37	3	52794827	52794827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:52794827G>A	ENST00000233027.5	-	6	1149	c.947C>T	c.(946-948)tCc>tTc	p.S316F	NEK4_ENST00000383721.4_Missense_Mutation_p.S316F|NEK4_ENST00000535191.1_Missense_Mutation_p.S227F	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	316					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		ATATGTCTGGGAGCCCTCAGA	0.398000													5	57					0	0	0.001984	0	0
FAM180A	389558	broad.mit.edu	37	7	135419002	135419002	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:135419002G>A	ENST00000338588.3	-	3	508	c.243C>T	c.(241-243)gcC>gcT	p.A81A	FAM180A_ENST00000415751.1_Silent_p.A81A	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	81						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						TCCGCAAGGAGGCCAGCTCCT	0.577000													5	112					0	0	0.000602	0	0
WNK1	65125	broad.mit.edu	37	12	989990	989990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:989990C>T	ENST00000537687.1	+	12	4359	c.3716C>T	c.(3715-3717)cCc>cTc	p.P1239L	WNK1_ENST00000340908.4_Missense_Mutation_p.P572L|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.P1477L|WNK1_ENST00000315939.6_Missense_Mutation_p.P979L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	979					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTATCCCCTCCCATGCCGACA	0.502000													16	224					0	0	0.007413	0	0
PPP1R17	10842	broad.mit.edu	37	7	31735191	31735191	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:31735191G>A	ENST00000342032.3	+	3	819	c.191G>A	c.(190-192)aGg>aAg	p.R64K	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	64					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											AAAAAACCAAGGAGGAAAGAT	0.458000													11	94					0	0	0.000978	0	0
NCK2	8440	broad.mit.edu	37	2	106471561	106471561	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:106471561C>T	ENST00000233154.4	+	3	484	c.42C>T	c.(40-42)acC>acT	p.T14T	AC009505.2_ENST00000427050.2_RNA|AC009505.2_ENST00000596418.1_RNA|AC009505.2_ENST00000598281.1_RNA|NCK2_ENST00000522586.1_Silent_p.T14T|NCK2_ENST00000451463.2_Silent_p.T14T|NCK2_ENST00000393349.2_Silent_p.T14T	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	14	SH3 1.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GGGACTACACCGCCCAGCAGG	0.537000													4	47					0	0	0.000602	0	0
FBN2	2201	broad.mit.edu	37	5	127674658	127674658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:127674658C>T	ENST00000508053.1	-	32	4413	c.3439G>A	c.(3439-3441)Gaa>Aaa	p.E1147K	FBN2_ENST00000262464.4_Missense_Mutation_p.E1147K|FBN2_ENST00000507835.1_5'UTR|FBN2_ENST00000508989.1_Missense_Mutation_p.E1114K			P35556	FBN2_HUMAN	fibrillin 2	1147	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AAGCCACTTTCATAGCCTTCG	0.507000													6	36					0	0	0.001168	0	0
LPHN2	23266	broad.mit.edu	37	1	82431755	82431755	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:82431755C>T	ENST00000370728.1	+	14	2664	c.2019C>T	c.(2017-2019)gcC>gcT	p.A673A	LPHN2_ENST00000394879.1_Silent_p.A660A|LPHN2_ENST00000370713.1_Silent_p.A660A|LPHN2_ENST00000370721.1_Silent_p.A598A|LPHN2_ENST00000335786.5_Silent_p.A673A|LPHN2_ENST00000370725.1_Silent_p.A673A|LPHN2_ENST00000359929.3_Silent_p.A660A|LPHN2_ENST00000370715.1_Silent_p.A660A|LPHN2_ENST00000370717.2_Silent_p.A673A|LPHN2_ENST00000319517.6_Silent_p.A660A|LPHN2_ENST00000370730.1_Silent_p.A673A|LPHN2_ENST00000370723.1_Silent_p.A660A|LPHN2_ENST00000370727.1_Silent_p.A673A|LPHN2_ENST00000271029.4_Silent_p.A673A|LPHN2_ENST00000469377.2_Intron			O95490	LPHN2_HUMAN	latrophilin 2	673					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGGAAGTTGCCGTACTCAGTA	0.433000													8	83					0	0	0.003080	0	0
HNRNPL	3191	broad.mit.edu	37	19	39338075	39338075	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:39338075C>T	ENST00000221419.5	-	2	634		c.e2-1		HNRNPL_ENST00000600873.1_Splice_Site	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L						nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CGTAGTTCTCCTGAGAAAGGA	0.507000													8	37					0	0	0.006214	0	0
ABCC12	94160	broad.mit.edu	37	16	48162523	48162523	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:48162523C>T	ENST00000311303.3	-	9	1707	c.1362G>A	c.(1360-1362)aaG>aaA	p.K454K	ABCC12_ENST00000416054.1_Silent_p.K454K|ABCC12_ENST00000448542.1_Silent_p.K454K	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	454						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCTGCAATTTCTTTGGGGTAC	0.498000													7	36					0	0	0.001984	0	0
SEMA4F	10505	broad.mit.edu	37	2	74885033	74885033	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:74885033C>T	ENST00000357877.2	+	4	560	c.411C>T	c.(409-411)ctC>ctT	p.L137L	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	137	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CCTCTCACCTCCTCACTTGTG	0.532000													13	75					0	0	0.002450	0	0
FRMPD1	22844	broad.mit.edu	37	9	37707488	37707488	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:37707488G>A	ENST00000539465.1	+	3	770	c.177G>A	c.(175-177)aaG>aaA	p.K59K	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.K59K			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	59	PDZ.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ACACAGTAAAGATAGACAAAG	0.517000													5	71					0	0	0.001168	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33405667	33405667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:33405667C>T	ENST00000418600.2	+	8	1086	c.985C>T	c.(985-987)Cgt>Tgt	p.R329C	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R329C|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R270C	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	329	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GCATCTGTACCGTGACTCAGA	0.622000													6	59					0	0	0.001984	0	0
SLC25A18	83733	broad.mit.edu	37	22	18066228	18066228	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:18066228G>A	ENST00000327451.5	+	7	875	c.337G>A	c.(337-339)Ggg>Agg	p.G113R	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000497401.1_3'UTR|SLC25A18_ENST00000399813.1_Missense_Mutation_p.G113R	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	113						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	GTGTGGGGCTGGGATGTGCCA	0.622000													8	74					0	0	0.003080	0	0
ZNF33A	7581	broad.mit.edu	37	10	38344753	38344753	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:38344753C>T	ENST00000374618.3	+	5	1879	c.1701C>T	c.(1699-1701)acC>acT	p.T567T	ZNF33A_ENST00000307441.9_Silent_p.T566T|ZNF33A_ENST00000432900.2_Silent_p.T573T|ZNF33A_ENST00000458705.2_Silent_p.T566T|ZNF33A_ENST00000469037.2_Intron	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	566						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ATAAGTCAACCCTCTCTCAAC	0.398000													5	68					0	0	0.001168	0	0
F5	2153	broad.mit.edu	37	1	169510306	169510306	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:169510306G>A	ENST00000367796.3	-	13	4238	c.4037C>T	c.(4036-4038)cCa>cTa	p.P1346L	F5_ENST00000367797.3_Missense_Mutation_p.P1341L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1341	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ACTGAGTTCTGGAGAGAGGTT	0.527000													69	197					0	0	0.003610	0	0
GJB3	2707	broad.mit.edu	37	1	35250940	35250940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:35250940G>A	ENST00000373366.2	+	2	1192	c.577G>A	c.(577-579)Ggc>Agc	p.G193S	RP1-34M23.5_ENST00000542839.1_RNA|GJB3_ENST00000373362.3_Missense_Mutation_p.G193S	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	193					cell communication	connexon complex|integral to membrane	gap junction channel activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTTCATGGTGGGCGCCTCCGC	0.612000													6	47					0	0	0.001168	0	0
DNAH7	56171	broad.mit.edu	37	2	196729123	196729123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:196729123C>T	ENST00000312428.6	-	41	7356	c.7256G>A	c.(7255-7257)gGg>gAg	p.G2419E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2419	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGGAATCTCCCCAGCATTTAG	0.418000													5	31					0	0	0.000602	0	0
TG	7038	broad.mit.edu	37	8	134145864	134145864	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:134145864C>T	ENST00000220616.4	+	47	8188	c.8148C>T	c.(8146-8148)tcC>tcT	p.S2716S	TG_ENST00000542445.1_Silent_p.S1086S|TG_ENST00000377869.1_Silent_p.S2659S|TG_ENST00000519543.1_Silent_p.S849S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2716					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCGACTGCTCCTTCTGGTCCA	0.562000													4	14					0	0	0.000602	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133930844	133930844	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:133930844C>T	ENST00000298622.4	+	2	537	c.399C>T	c.(397-399)acC>acT	p.T133T		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGTCAAGACCGTGCTGCTGT	0.607000													8	74					0	0	0.004482	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558804	140558804	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140558804T>G	ENST00000239444.2	+	1	1434	c.1189T>G	c.(1189-1191)Tct>Gct	p.S397A		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		397	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGAAATCTTCTGTGGGGAA	0.458000													9	88					0	0	0.004482	0	0
ZNF607	84775	broad.mit.edu	37	19	38189017	38189017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:38189017G>A	ENST00000355202.4	-	5	2610	c.2015C>T	c.(2014-2016)cCc>cTc	p.P672L	ZNF607_ENST00000395835.3_Missense_Mutation_p.P671L|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	672					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ACATTTAAAGGGTTTCTCACC	0.368000													7	69					0	0	0.003080	0	0
MTMR11	10903	broad.mit.edu	37	1	149905553	149905553	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:149905553G>A	ENST00000439741.2	-	9	1060	c.810C>T	c.(808-810)ctC>ctT	p.L270L	MTMR11_ENST00000369140.3_Silent_p.L198L|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Silent_p.L242L|MTMR11_ENST00000361405.6_Intron	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	270	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CTCCACAGCGGAGAAGATCAC	0.552000													9	31					0	0	0.006214	0	0
KERA	11081	broad.mit.edu	37	12	91449442	91449442	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:91449442T>A	ENST00000266719.3	-	2	864	c.617A>T	c.(616-618)aAt>aTt	p.N206I		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	206					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TGGAGGCATATTCCTCAGGGC	0.368000													10	85					0	0	0.008291	0	0
TACC2	10579	broad.mit.edu	37	10	123970533	123970533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:123970533G>A	ENST00000369005.1	+	9	6933	c.6593G>A	c.(6592-6594)gGg>gAg	p.G2198E	TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000515273.1_Missense_Mutation_p.G2202E|TACC2_ENST00000513429.1_Missense_Mutation_p.G344E|TACC2_ENST00000360561.3_Missense_Mutation_p.G276E|TACC2_ENST00000515603.1_Missense_Mutation_p.G2153E|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000358010.1_Missense_Mutation_p.G344E|TACC2_ENST00000334433.3_Missense_Mutation_p.G2198E|TACC2_ENST00000260733.3_Missense_Mutation_p.G276E|TACC2_ENST00000368999.1_Missense_Mutation_p.G276E|TACC2_ENST00000369004.3_Missense_Mutation_p.G276E|TACC2_ENST00000453444.2_Missense_Mutation_p.G2202E	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2198						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCCGCTGTGGGGCCCAAAGCT	0.612000													7	39					0	0	0.003080	0	0
CHSY1	22856	broad.mit.edu	37	15	101718347	101718347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:101718347C>T	ENST00000254190.3	-	3	2130	c.1655G>A	c.(1654-1656)gGa>gAa	p.G552E	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	552					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCAAAGTTTCCCATAAATCT	0.433000													7	38					0	0	0.003080	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54901688	54901688	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:54901688G>A	ENST00000293373.6	+	4	437	c.358G>A	c.(358-360)Gat>Aat	p.D120N	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.D70N	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	120					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GTGCCATTTTGATATCGTAAG	0.428000													5	74					0	0	0.001168	0	0
OR52I2	143502	broad.mit.edu	37	11	4608387	4608387	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:4608387C>T	ENST00000312614.4	+	1	367	c.345C>T	c.(343-345)ttC>ttT	p.F115F		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAGCATCTTCTGCTCAGGAG	0.512000													11	134					0	0	0.000978	0	0
SPTLC2	9517	broad.mit.edu	37	14	78045300	78045300	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:78045300G>A	ENST00000216484.2	-	3	673	c.480C>T	c.(478-480)ttC>ttT	p.F160F		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	160						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGACTCACTTGAAGGACCAGT	0.383000													5	91					0	0	0.001168	0	0
JMJD1C	221037	broad.mit.edu	37	10	64975342	64975342	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:64975342G>A	ENST00000399262.2	-	6	1011	c.793C>T	c.(793-795)Cgt>Tgt	p.R265C	JMJD1C_ENST00000399251.1_Missense_Mutation_p.R46C|JMJD1C_ENST00000402544.1_Missense_Mutation_p.R46C|JMJD1C_ENST00000542921.1_Missense_Mutation_p.R83C|JMJD1C_ENST00000489372.2_5'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	265					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGATTGGCACGAGACCTGCGT	0.373000													5	48					0	0	0.001984	0	0
PARS2	25973	broad.mit.edu	37	1	55224553	55224553	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:55224553G>A	ENST00000371279.3	-	2	364	c.282C>T	c.(280-282)acC>acT	p.T94T		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	94					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TGGCACGGACGGTATATGGCA	0.597000													9	37					0	0	0.006214	0	0
FAM160B1	57700	broad.mit.edu	37	10	116606378	116606378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:116606378C>T	ENST00000369248.4	+	11	1794	c.1459C>T	c.(1459-1461)Ctt>Ttt	p.L487F	FAM160B1_ENST00000369250.3_Missense_Mutation_p.L487F	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	487										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TGAGCACATTCTTTACAACTT	0.308000													8	38					0	0	0.003080	0	0
SPATA17	128153	broad.mit.edu	37	1	217856677	217856677	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:217856677C>T	ENST00000366933.4	+	5	424	c.369C>T	c.(367-369)gtC>gtT	p.V123V		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	123						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ACCTGAAAGTCGTTTCAGAGA	0.348000													8	124					0	0	0.003080	0	0
PIAS2	9063	broad.mit.edu	37	18	44426698	44426698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:44426698G>A	ENST00000585916.1	-	6	832	c.833C>T	c.(832-834)tCc>tTc	p.S278F	PIAS2_ENST00000545673.1_5'UTR|PIAS2_ENST00000324794.7_Missense_Mutation_p.S278F	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	278	PINIT.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CCAAGAAATGGAAATTTGGTT	0.453000													5	51					0	0	0.001984	0	0
AKR1B10	57016	broad.mit.edu	37	7	134222354	134222354	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:134222354C>T	ENST00000359579.4	+	7	1002	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	228					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						AGACCCTTCCCTGCTGGAGGA	0.468000													13	82					0	0	0.004007	0	0
COPZ1	22818	broad.mit.edu	37	12	54743418	54743418	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:54743418C>T	ENST00000262061.2	+	8	499	c.462C>T	c.(460-462)ccC>ccT	p.P154P	COPZ1_ENST00000551779.1_Silent_p.P154P|COPZ1_ENST00000552362.1_Intron|COPZ1_ENST00000549116.1_Silent_p.P96P|COPZ1_ENST00000416254.2_Silent_p.P103P|COPZ1_ENST00000549043.1_Silent_p.P162P|COPZ1_ENST00000548753.1_Silent_p.P66P|COPZ1_ENST00000548281.1_3'UTR|COPZ1_ENST00000552218.1_Silent_p.P175P|COPZ1_ENST00000455864.2_Silent_p.P131P|COPZ1_ENST00000553231.1_Silent_p.P131P	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	154					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol				kidney(1)|lung(4)	5						AAGATGTCCCCCTTACGGAGC	0.478000													32	228					0	0	0.005524	0	0
PTPRU	10076	broad.mit.edu	37	1	29581888	29581888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:29581888G>A	ENST00000356870.3	+	2	285	c.175G>A	c.(175-177)Ggc>Agc	p.G59S	PTPRU_ENST00000460170.2_Missense_Mutation_p.G59S|PTPRU_ENST00000323874.8_Missense_Mutation_p.G59S|PTPRU_ENST00000345512.3_Missense_Mutation_p.G59S|PTPRU_ENST00000428026.2_Missense_Mutation_p.G59S|PTPRU_ENST00000373779.3_Missense_Mutation_p.G59S	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	59	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AATCCACCCTGGCACCCGGGC	0.612000													11	50					0	0	0.001855	0	0
LRP2	4036	broad.mit.edu	37	2	170044544	170044544	+	Silent	SNP	G	G	A	rs143637076		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:170044544G>A	ENST00000263816.3	-	49	9549	c.9264C>T	c.(9262-9264)atC>atT	p.I3088I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3088	LDL-receptor class A 25.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.I3088I(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCATCATCTCGATGCAGCGCC	0.512000													11	56					0	0	0.001368	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156711039	156711039	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:156711039C>T	ENST00000264424.8	+	5	553	c.471C>T	c.(469-471)atC>atT	p.I157I	GUCY1B3_ENST00000513437.1_Silent_p.I89I|GUCY1B3_ENST00000505154.1_Silent_p.I89I|GUCY1B3_ENST00000507146.1_Silent_p.I89I|GUCY1B3_ENST00000502959.1_Silent_p.I179I|GUCY1B3_ENST00000503520.1_Silent_p.I157I|GUCY1B3_ENST00000505764.1_Silent_p.I137I	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	157					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CACAACAAATCCATGGCACTG	0.373000													18	72					0	0	0.008871	0	0
CD48	962	broad.mit.edu	37	1	160654855	160654855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:160654855C>T	ENST00000368045.3	-	2	246	c.207G>A	c.(205-207)tgG>tgA	p.W69*	CD48_ENST00000368046.3_Nonsense_Mutation_p.W69*			P09326	CD48_HUMAN	CD48 molecule	69	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTCTGGAATCCCATTCTACAA	0.443000													15	47					0	0	0.003163	0	0
GALNT6	11226	broad.mit.edu	37	12	51748276	51748276	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:51748276C>T	ENST00000543196.2	-	11	1961	c.1755_splice	c.e11-1	p.D586_splice	GALNT6_ENST00000356317.3_Splice_Site_p.D586_splice			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	586	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATGAGCTGATCCTAAAAGATG	0.527000													4	33					0	0	0.000602	0	0
OR5A2	219981	broad.mit.edu	37	11	59189624	59189624	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:59189624G>A	ENST00000302040.4	-	1	825	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CCTGTTTAGGGAGTAGCTGGA	0.478000													7	15					0	0	0.001984	0	0
TENM3	55714	broad.mit.edu	37	4	183675993	183675993	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:183675993G>A	ENST00000511685.1	+	22	4596	c.4473G>A	c.(4471-4473)ggG>ggA	p.G1491G	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.G1491G					teneurin transmembrane protein 3																		CAGATCTAGGGAATATCCGGA	0.468000													4	72					0	0	0.000248	0	0
HVCN1	84329	broad.mit.edu	37	12	111099116	111099116	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:111099116C>T	ENST00000356742.5	-	3	912	c.159G>A	c.(157-159)gaG>gaA	p.E53E	HVCN1_ENST00000242607.8_Silent_p.E53E|HVCN1_ENST00000439744.2_Silent_p.E33E|HVCN1_ENST00000548312.1_Silent_p.E53E			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	53	Poly-Glu.				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GCTGctcctcctcctcctcct	0.612000													4	28					0	0	0.000248	0	0
PRDM9	56979	broad.mit.edu	37	5	23527702	23527702	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:23527702G>A	ENST00000296682.3	+	11	2687	c.2505G>A	c.(2503-2505)agG>agA	p.R835R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	835					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATGTCTGCAGGGAGTGTGGGC	0.597000										HNSCC(3;0.000094)			10	55					0	0	0.006214	0	0
VPS35	55737	broad.mit.edu	37	16	46696963	46696963	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:46696963C>T	ENST00000299138.7	-	14	1817	c.1759G>A	c.(1759-1761)Gga>Aga	p.G587R		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	587					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCTAGTGCTCCTTGAAGAAAA	0.423000													4	28					0	0	0.000248	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713866	142713866	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:142713866C>T	ENST00000369381.2	-	0	739																											TTCATTTCTTCCTGATTATGA	0.303000													11	19					0	0	0.001368	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649574	20649574	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:20649574C>T	ENST00000428453.1	-	0	2624																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CTTTCCCCATCCTGTAGGAGT	0.592000													10	173					0	0	0.008291	0	0
TBC1D5	9779	broad.mit.edu	37	3	17425431	17425431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:17425431C>T	ENST00000253692.7	-	9	2250	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	TBC1D5_ENST00000429924.2_Missense_Mutation_p.E148K|TBC1D5_ENST00000429383.4_Missense_Mutation_p.E196K|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000446818.2_Missense_Mutation_p.E196K	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	196	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TGCTCGTTTTCTCTGGCATAA	0.333000													11	53					0	0	0.000978	0	0
CLEC4E	26253	broad.mit.edu	37	12	8687247	8687247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:8687247C>T	ENST00000299663.3	-	6	812	c.647G>A	c.(646-648)gGa>gAa	p.G216E	CLEC4E_ENST00000446457.2_3'UTR|CLEC4E_ENST00000545274.1_Missense_Mutation_p.G171E	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	216						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					AAGAGATTTTCCTTTGTTCAA	0.408000													7	34					0	0	0.003080	0	0
RNF150	57484	broad.mit.edu	37	4	141888920	141888920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:141888920G>A	ENST00000306799.3	-	2	1245	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	RNF150_ENST00000379512.2_Missense_Mutation_p.R57W|RNF150_ENST00000420921.2_Missense_Mutation_p.R57W|RNF150_ENST00000507500.1_Missense_Mutation_p.R198W|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000515673.1_Missense_Mutation_p.R198W	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	198						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TGCAAGTTCCGGGTTCCGATG	0.463000													13	167					0	0	0.004990	0	0
ATF4	468	broad.mit.edu	37	22	39917503	39917503	+	Missense_Mutation	SNP	C	C	T	rs34854854		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:39917503C>T	ENST00000337304.2	+	1	935	c.53C>T	c.(52-54)tCc>tTc	p.S18F	ATF4_ENST00000396680.1_Missense_Mutation_p.S18F|ATF4_ENST00000404241.2_Missense_Mutation_p.S18F	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	18					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					GACTTGATGTCCCCCTTCGAC	0.532000													18	79					0	0	0.008871	0	0
RASGRP4	115727	broad.mit.edu	37	19	38900718	38900718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:38900718C>T	ENST00000454404.2	-	17	2095	c.1882G>A	c.(1882-1884)Gac>Aac	p.D628N	RASGRP4_ENST00000586305.1_Missense_Mutation_p.D648N|RASGRP4_ENST00000587738.1_Missense_Mutation_p.D662N|RASGRP4_ENST00000587753.1_Missense_Mutation_p.D593N|RASGRP4_ENST00000433821.2_Missense_Mutation_p.D570N|RASGRP4_ENST00000293062.9_Missense_Mutation_p.D565N|RASGRP4_ENST00000426920.2_Missense_Mutation_p.D473N	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	662					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GATGGTGGGTCCATCACCGGG	0.557000													8	34					0	0	0.008291	0	0
ABCA6	23460	broad.mit.edu	37	17	67084376	67084376	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:67084376G>A	ENST00000284425.2	-	28	3804	c.3630C>T	c.(3628-3630)ttC>ttT	p.F1210F	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1210					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GAACAAAAACGAATAGCAAAG	0.299000													5	18					0	0	0.001984	0	0
PTBP1	5725	broad.mit.edu	37	19	804074	804074	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:804074C>G	ENST00000356948.6	+	4	577	c.154C>G	c.(154-156)Cga>Gga	p.R52G	PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.R52G|PTBP1_ENST00000349038.4_Missense_Mutation_p.R52G	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	52					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGACAGCCGAAGTGCAGG	0.587000													7	37					0	0	0.003080	0	0
GALNTL6	442117	broad.mit.edu	37	4	173730543	173730543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:173730543G>A	ENST00000506823.1	+	6	1242	c.585G>A	c.(583-585)atG>atA	p.M195I	GALNTL6_ENST00000508122.1_Missense_Mutation_p.M178I	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	195	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AAGAATACATGGCCCGATTTT	0.453000													16	46					0	0	0.007413	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21370151	21370151	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:21370151G>A	ENST00000256958.2	+	12	1692	c.1596G>A	c.(1594-1596)agG>agA	p.R532R		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	532					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CTTGTACAAGGAAATTTTACT	0.378000													9	52					0	0	0.006214	0	0
RGAG1	57529	broad.mit.edu	37	X	109695723	109695723	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:109695723G>A	ENST00000465301.2	+	3	2124	c.1878G>A	c.(1876-1878)acG>acA	p.T626T	RGAG1_ENST00000540313.1_Silent_p.T626T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	626										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCTCAGGAACGATGTTCACGG	0.502000													4	39					0	0	0.000248	0	0
DACH1	1602	broad.mit.edu	37	13	72147041	72147041	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:72147041G>A	ENST00000305425.4	-	4	1658	c.1236C>T	c.(1234-1236)acC>acT	p.T412T	DACH1_ENST00000359684.2_Silent_p.T464T|DACH1_ENST00000313174.7_Intron|DACH1_ENST00000354591.4_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	462					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TATTTGCAATGGTGCTGAGGT	0.443000													7	51					0	0	0.006214	0	0
LPL	4023	broad.mit.edu	37	8	19805839	19805839	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:19805839C>T	ENST00000311322.8	+	2	707	c.237C>T	c.(235-237)atC>atT	p.I79I	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	79					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	TCATGGTGATCCATGGCTGGA	0.552000													14	25					0	0	0.001855	0	0
TAOK2	9344	broad.mit.edu	37	16	29998403	29998403	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:29998403C>T	ENST00000308893.4	+	16	3853	c.2810C>T	c.(2809-2811)cCc>cTc	p.P937L	TAOK2_ENST00000416441.2_Missense_Mutation_p.P764L|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Missense_Mutation_p.P824L	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	937					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CACCTGAGGCCCTGCCCTGCC	0.662000													11	109					0	0	0.000978	0	0
TLR9	54106	broad.mit.edu	37	3	52257214	52257214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:52257214C>T	ENST00000597542.1	-	9	2147	c.1190G>A	c.(1189-1191)gGc>gAc	p.G397D	TLR9_ENST00000494383.1_Silent_p.R526R|TLR9_ENST00000360658.2_Missense_Mutation_p.G373D			Q9NR96	TLR9_HUMAN	toll-like receptor 9	373					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GAAGAAGATGCCGTGCATGTC	0.597000													10	61					0	0	0.008291	0	0
CARD6	84674	broad.mit.edu	37	5	40853853	40853853	+	Missense_Mutation	SNP	C	C	T	rs34452222		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:40853853C>T	ENST00000254691.5	+	3	2618	c.2419C>T	c.(2419-2421)Cgg>Tgg	p.R807W	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	807					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CAGAGTTGCTCGGGGATGTCA	0.473000													17	248					0	0	0.001523	0	0
MLIP	90523	broad.mit.edu	37	6	53989457	53989457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:53989457G>A	ENST00000514921.1	+	3	519	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	MLIP_ENST00000370876.2_Missense_Mutation_p.E74K|MLIP_ENST00000274897.5_Missense_Mutation_p.E136K|MLIP_ENST00000509997.1_Missense_Mutation_p.E84K|MLIP_ENST00000502396.1_Missense_Mutation_p.E147K|MLIP_ENST00000358276.5_Missense_Mutation_p.E130K|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370877.2_Missense_Mutation_p.E84K			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	136						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TGTGGACTCCGAAGGGGAAGA	0.502000													10	74					0	0	0.008291	0	0
PSG7	5676	broad.mit.edu	37	19	43433835	43433835	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:43433835G>A	ENST00000406070.2	-	0	564				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				CCCTGGGGTTGAAATTGCTGC	0.522000													24	98					0	0	0.003954	0	0
USP26	83844	broad.mit.edu	37	X	132162210	132162210	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:132162210C>T	ENST00000511190.1	-	6	508	c.39G>A	c.(37-39)ggG>ggA	p.G13G	USP26_ENST00000406273.1_Silent_p.G13G|USP26_ENST00000370832.1_Silent_p.G13G	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	13					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCTTGCAGTTCCCTATTTGGA	0.358000													4	36					0	0	0.001168	0	0
TUBB3	10381	broad.mit.edu	37	16	90002125	90002125	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:90002125C>T	ENST00000304984.5	+	3	3345	c.1050C>T	c.(1048-1050)taC>taT	p.Y350Y	TUBB3_ENST00000556922.1_Silent_p.Y769Y|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000554444.1_Silent_p.Y350Y|TUBB3_ENST00000315491.7_Silent_p.Y422Y			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	422					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TGTCCGAGTACCAGCAGTACC	0.642000													6	31					0	0	0.001168	0	0
LAMA3	3909	broad.mit.edu	37	18	21469984	21469984	+	Silent	SNP	G	G	A	rs141738236		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:21469984G>A	ENST00000313654.9	+	42	5554	c.5313G>A	c.(5311-5313)ccG>ccA	p.P1771P	LAMA3_ENST00000399516.3_Silent_p.P1771P|LAMA3_ENST00000269217.6_Silent_p.P162P|LAMA3_ENST00000587184.1_Silent_p.P162P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1771	Domain III A.|Laminin EGF-like 14.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGTGCACCGGGATATTTCG	0.473000													6	89					0	0	0.001984	0	0
ARAP1	116985	broad.mit.edu	37	11	72423547	72423547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:72423547C>T	ENST00000359373.5	-	6	1665	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	ARAP1_ENST00000334211.8_Missense_Mutation_p.E27K|ARAP1_ENST00000393605.3_Missense_Mutation_p.E32K|ARAP1_ENST00000393609.3_Missense_Mutation_p.E272K|ARAP1_ENST00000455638.2_Missense_Mutation_p.E272K|ARAP1_ENST00000426523.1_Missense_Mutation_p.E27K|ARAP1_ENST00000429686.1_Missense_Mutation_p.E27K			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	272					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCAGACAGTTCCTCTCCCTCG	0.672000													23	210					0	0	0.002780	0	0
JSRP1	126306	broad.mit.edu	37	19	2252649	2252649	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:2252649C>T	ENST00000300961.5	-	7	739	c.675G>A	c.(673-675)gaG>gaA	p.E225E	JSRP1_ENST00000586471.1_Silent_p.E225E	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	225	Arg-rich.					sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACACGGTCCTCCCGGACGG	0.677000													29	71					0	0	0.008361	0	0
LAIR2	3904	broad.mit.edu	37	19	55019160	55019160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55019160G>A	ENST00000301202.2	+	3	247	c.125G>A	c.(124-126)gGg>gAg	p.G42E	LAIR2_ENST00000351841.2_Missense_Mutation_p.G42E	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	42	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		ATCTCCCCGGGGAGCCATGTG	0.552000													13	86					0	0	0.002450	0	0
OR4K2	390431	broad.mit.edu	37	14	20345023	20345023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:20345023G>A	ENST00000298642.2	+	1	633	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCTCTTTATGATCTCAACAA	0.403000													29	290					0	0	0.005443	0	0
TIE1	7075	broad.mit.edu	37	1	43777490	43777490	+	Silent	SNP	G	G	A	rs145245556		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:43777490G>A	ENST00000372476.3	+	10	1561	c.1482G>A	c.(1480-1482)tcG>tcA	p.S494S	TIE1_ENST00000433781.2_Silent_p.S139S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	494	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGACTGGTCGACCATTGTGG	0.602000													8	61					0	0	0.004482	0	0
FETUB	26998	broad.mit.edu	37	3	186370352	186370352	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:186370352G>A	ENST00000265029.3	+	7	1182	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	FETUB_ENST00000382134.3_Missense_Mutation_p.E296K|FETUB_ENST00000539949.1_Missense_Mutation_p.E213K|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382136.3_Missense_Mutation_p.E324K|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Missense_Mutation_p.E361K	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	361						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		TTTCCCCAAAGAAAAAGCACG	0.552000													4	56					0	0	0.000248	0	0
SOCS7	30837	broad.mit.edu	37	17	36520712	36520712	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:36520712C>T	ENST00000577233.1	+	3	931	c.931C>T	c.(931-933)Cct>Tct	p.P311S	SOCS7_ENST00000331159.5_Missense_Mutation_p.P311S	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	311	Mediates interaction with SORBS3.|Poly-Pro.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					TCCCCCTCCTCCTCCGAGAAG	0.567000													10	60					0	0	0.000978	0	0
MUC3A	4584	broad.mit.edu	37	7	100549700	100549700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:100549700C>T	ENST00000379458.4	+	2	281	c.281C>T	c.(280-282)tCt>tTt	p.94_94insF	MUC3A_ENST00000483366.1_3'UTR					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TTGCTCAACTCTCCAGTCAGT	0.547000													8	56					0	0	0.000978	0	0
NAALAD2	10003	broad.mit.edu	37	11	89891364	89891364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:89891364C>T	ENST00000534061.1	+	7	1078	c.848C>T	c.(847-849)cCt>cTt	p.P283L	NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.P283L|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	283	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCCCGAATACCTGTACATCCC	0.308000													28	83					0	0	0.002836	0	0
POTEF	728378	broad.mit.edu	37	2	130869621	130869621	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:130869621C>T	ENST00000357462.5	-	4	957	c.864G>A	c.(862-864)gtG>gtA	p.V288V	POTEF_ENST00000409914.2_Silent_p.V288V|POTEF_ENST00000360967.5_Silent_p.V288V|POTEF_ENST00000361163.4_Silent_p.V298V			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	288						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTAAAAATTTCACGACTTGCT	0.333000													7	26					0	0	0.003080	0	0
COL4A2	1284	broad.mit.edu	37	13	111138038	111138038	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:111138038G>A	ENST00000360467.5	+	34	3368	c.3062G>A	c.(3061-3063)gGa>gAa	p.G1021E		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1021	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGCTGTCAGGAATCCCTGGG	0.617000													12	45					0	0	0.000978	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938862	2938862	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:2938862C>T	ENST00000378404.2	+	1	817	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	204						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GCCACACCTTCCCCTGCCAGC	0.642000													8	51					0	0	0.008291	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713418	30713418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:30713418C>T	ENST00000295754.5	+	4	1125	c.743C>T	c.(742-744)aCc>aTc	p.T248I	TGFBR2_ENST00000359013.4_Missense_Mutation_p.T273I	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	248	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GAGCTGGACACCCTGGTGGGG	0.522000													5	34					0	0	0.000602	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64606563	64606563	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:64606563T>C	ENST00000342711.5	-	7	817	c.818A>G	c.(817-819)gAg>gGg	p.E273G		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	273	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GAAGGGCGTCTCCCCAAAGAG	0.607000													13	52					0	0	0.002450	0	0
OR10G3	26533	broad.mit.edu	37	14	22038555	22038555	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:22038555G>A	ENST00000303532.1	-	1	320	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		TGCTGCCCAGGAAGTGATAGA	0.512000													5	24					0	0	0.000602	0	0
FMN2	56776	broad.mit.edu	37	1	240255934	240255934	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:240255934C>T	ENST00000319653.9	+	1	755	c.525C>T	c.(523-525)acC>acT	p.T175T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	175					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GACAAAGGACCAGCTCGGGCT	0.647000													6	49					0	0	0.001168	0	0
OR5H14	403273	broad.mit.edu	37	3	97868560	97868560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:97868560G>A	ENST00000437310.1	+	1	391	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTAACCACGGAATGTTTTCT	0.413000													14	132					0	0	0.004007	0	0
C16orf71	146562	broad.mit.edu	37	16	4793059	4793059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:4793059G>A	ENST00000299320.5	+	5	1277	c.799G>A	c.(799-801)Gat>Aat	p.D267N	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.D281N	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	267								p.W266>?(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						TGAAGCGTGGGATTTGGATGA	0.522000													9	112					0	0	0.006214	0	0
EBF2	64641	broad.mit.edu	37	8	25708206	25708206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:25708206G>A	ENST00000520164.1	-	15	2137	c.1600C>T	c.(1600-1602)Cct>Tct	p.P534S	EBF2_ENST00000408929.3_Missense_Mutation_p.P386S|EBF2_ENST00000535548.1_3'UTR	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	534	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGACAGCAGGAAAAACTGAA	0.507000													5	57					0	0	0.000602	0	0
MYO7A	4647	broad.mit.edu	37	11	76924939	76924939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:76924939C>T	ENST00000409709.3	+	48	6745	c.6473C>T	c.(6472-6474)tCc>tTc	p.S2158F	MYO7A_ENST00000409619.2_Missense_Mutation_p.S2109F|MYO7A_ENST00000458637.2_Missense_Mutation_p.S2118F|MYO7A_ENST00000605744.1_3'UTR	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2158	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACCAAGATCTCCAACTGGAGC	0.592000													6	72					0	0	0.001984	0	0
CHST12	55501	broad.mit.edu	37	7	2472340	2472340	+	Silent	SNP	C	C	T	rs150285273		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:2472340C>T	ENST00000258711.6	+	2	201	c.66C>T	c.(64-66)atC>atT	p.I22I		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	22					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		TCCTGCTGATCATCGTGTACT	0.701000													13	55					0	0	0.001855	0	0
XKR3	150165	broad.mit.edu	37	22	17280726	17280726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:17280726G>A	ENST00000331428.5	-	3	626	c.524C>T	c.(523-525)tCt>tTt	p.S175F		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	175						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TTGTGGAACAGAACCGAGAAA	0.403000													34	90					0	0	0.002445	0	0
KIF1B	23095	broad.mit.edu	37	1	10316344	10316344	+	Missense_Mutation	SNP	C	C	T	rs143654307		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:10316344C>T	ENST00000377086.1	+	3	348	c.146C>T	c.(145-147)tCc>tTc	p.S49F	KIF1B_ENST00000377081.1_Missense_Mutation_p.S49F|KIF1B_ENST00000377093.4_Missense_Mutation_p.S49F|KIF1B_ENST00000377083.1_Missense_Mutation_p.S49F|KIF1B_ENST00000263934.6_Missense_Mutation_p.S49F			O60333	KIF1B_HUMAN	kinesin family member 1B	49	Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCTCCAAAGTCCTTCAGCTTC	0.403000													12	47					0	0	0.001368	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424321	69424321	+	Missense_Mutation	SNP	G	G	A	rs147349994	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:69424321G>A	ENST00000333026.3	+	6	914	c.814G>A	c.(814-816)Gga>Aga	p.G272R		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	272					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CTTCACTCGCGGATCCTGGGG	0.502000													9	34					0	0	0.004482	0	0
PAK2	5062	broad.mit.edu	37	3	196554117	196554117	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:196554117G>T	ENST00000327134.3	+	14	1723	c.1401G>T	c.(1399-1401)gaG>gaT	p.E467D		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	467	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AGAATCCAGAGAAACTTTCCC	0.363000													6	53					2.0095e-06	2.27614e-06	0.001984	1	0
PLCL2	23228	broad.mit.edu	37	3	17052006	17052006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:17052006C>T	ENST00000418129.2	+	2	1255	c.790C>T	c.(790-792)Cca>Tca	p.P264S	PLCL2_ENST00000396755.2_Missense_Mutation_p.P264S|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Missense_Mutation_p.P264S	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	390					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CAAATATGAACCATCCAAAGA	0.398000													8	42					0	0	0.004482	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88307707	88307707	+	Silent	SNP	G	G	A	rs142829279		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:88307707G>A	ENST00000357081.3	-	3	198	c.54C>T	c.(52-54)atC>atT	p.I18I	AGTPBP1_ENST00000376081.4_Silent_p.I18I|AGTPBP1_ENST00000376109.3_Silent_p.I70I|AGTPBP1_ENST00000337006.4_5'UTR|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376083.3_Silent_p.I18I			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	18					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GGAGTCCTACGATCCTAGAAT	0.383000													4	34					0	0	0.000602	0	0
WDR3	10885	broad.mit.edu	37	1	118485129	118485129	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:118485129C>T	ENST00000349139.4	+	10	1106	c.1059C>T	c.(1057-1059)atC>atT	p.I353I		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	353						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AAGATGAAATCCAGCGGGTGA	0.343000													4	73					0	0	0.000248	0	0
SLC28A1	9154	broad.mit.edu	37	15	85478748	85478748	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:85478748C>T	ENST00000394573.1	+	15	1782	c.1581_splice	c.e15+1	p.S527_splice	SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537216.1_Splice_Site_p.S527_splice|SLC28A1_ENST00000286749.3_Splice_Site_p.S527_splice|SLC28A1_ENST00000537624.1_Splice_Site_p.S527_splice	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	527					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGTGGATCTCCGTGAGTGTC	0.642000													8	89					0	0	0.004482	0	0
DNMT1	1786	broad.mit.edu	37	19	10270547	10270547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:10270547G>A	ENST00000340748.4	-	15	1328	c.1093C>T	c.(1093-1095)Ctc>Ttc	p.L365F	DNMT1_ENST00000359526.4_Missense_Mutation_p.L381F|DNMT1_ENST00000540357.1_Missense_Mutation_p.L365F			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	365	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCATATTTGAGGTCAGGGTCG	0.607000													13	92					0	0	0.002450	0	0
COL14A1	7373	broad.mit.edu	37	8	121326182	121326182	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:121326182C>T	ENST00000297848.3	+	38	4737	c.4467C>T	c.(4465-4467)ggC>ggT	p.G1489G	COL14A1_ENST00000247781.3_Silent_p.G1394G|COL14A1_ENST00000309791.4_Silent_p.G1489G	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1489	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GACCAGATGGCCCTCGGGGTG	0.463000													8	155					0	0	0.008291	0	0
MSS51	118490	broad.mit.edu	37	10	75187441	75187441	+	Nonsense_Mutation	SNP	G	G	A	rs145089649		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:75187441G>A	ENST00000299432.2	-	3	372	c.307C>T	c.(307-309)Cga>Tga	p.R103*	MSS51_ENST00000372912.1_Nonsense_Mutation_p.R103*	NM_001024593.1	NP_001019764.1	Q4VC12	ZMY17_HUMAN	MSS51 mitochondrial translational activator	103							zinc ion binding										GCACAGAATCGAAATGTGTCT	0.507000													11	96					0	0	0.008291	0	0
TPTE	7179	broad.mit.edu	37	21	10920131	10920131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:10920131C>T	ENST00000298232.7	-	18	1436	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	TPTE_ENST00000342420.5_Missense_Mutation_p.D337N|TPTE_ENST00000361285.4_Missense_Mutation_p.D375N|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	375	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D357H(1)|p.D375H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGGTTTTATCTGTTCGCCTT	0.383000													4	42					0	0	0.000602	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915567	39915567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:39915567C>T	ENST00000425673.1	+	17	4032	c.3707C>T	c.(3706-3708)tCc>tTc	p.S1236F	PLEKHG2_ENST00000409794.3_Missense_Mutation_p.S1265F|PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409797.2_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1265					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCCCACCTTCCAGCCGTCAG	0.612000													16	62					0	0	0.004007	0	0
ELOVL2	54898	broad.mit.edu	37	6	11000335	11000335	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:11000335C>T	ENST00000354666.3	-	4	401	c.318G>A	c.(316-318)ggG>ggA	p.G106G		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	106					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TGTCAGCTTCCCCTGCGCTGG	0.468000													6	57					0	0	0.001984	0	0
SCN9A	6335	broad.mit.edu	37	2	167056193	167056193	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:167056193G>A	ENST00000375387.4	-	27	5299	c.4959C>T	c.(4957-4959)ttC>ttT	p.F1653F	SCN9A_ENST00000303354.6_Silent_p.F1653F|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.F1641F|SCN9A_ENST00000409435.1_Silent_p.F1652F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1652						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ACATGACCAGGAAGAGCAGGA	0.448000													7	57					0	0	0.004482	0	0
ANK3	288	broad.mit.edu	37	10	61847990	61847990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:61847990C>T	ENST00000280772.1	-	29	3646	c.3455G>A	c.(3454-3456)gGa>gAa	p.G1152E	ANK3_ENST00000355288.2_Missense_Mutation_p.G286E|ANK3_ENST00000373827.2_Missense_Mutation_p.G1146E|ANK3_ENST00000503366.1_Missense_Mutation_p.G1153E	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1152					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTCAGAATTCCACCTTCAGG	0.468000													12	75					0	0	0.001855	0	0
CRNN	49860	broad.mit.edu	37	1	152382994	152382994	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:152382994C>T	ENST00000271835.3	-	3	626	c.564G>A	c.(562-564)caG>caA	p.Q188Q	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	188	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGCTCTGTCTGCCCAGAGA	0.572000													22	217					0	0	0.003954	0	0
PCP4	5121	broad.mit.edu	37	21	41300986	41300986	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:41300986C>T	ENST00000328619.5	+	3	324	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	47	IQ.				central nervous system development	cytosol|nucleus				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				GGTGGCCATTCAGTCTCAGTT	0.458000													6	29					0	0	0.001168	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665767	19665767	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:19665767G>A	ENST00000328041.6	+	12	1283	c.1086G>A	c.(1084-1086)agG>agA	p.R362R		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	362						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TAAACAGCAGGGCTTATACCA	0.517000													10	57					0	0	0.002450	0	0
MED13L	23389	broad.mit.edu	37	12	116445228	116445228	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:116445228C>T	ENST00000281928.3	-	11	2432	c.2226G>A	c.(2224-2226)ctG>ctA	p.L742L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	742					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TATTCTTTTTCAGGGAATCTT	0.413000													6	65					0	0	0.001168	0	0
TRAV38-1	28644	broad.mit.edu	37	14	22740241	22740241	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:22740241G>A	ENST00000390464.2	+	0	148																											TGACACCAGTGAGAATAATTA	0.478000													6	18					0	0	0.001984	0	0
UNC5D	137970	broad.mit.edu	37	8	35631864	35631864	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:35631864C>T	ENST00000287272.2	+	15	2339	c.2319C>T	c.(2317-2319)ttC>ttT	p.F773F	UNC5D_ENST00000453357.2_Silent_p.F837F|UNC5D_ENST00000449677.1_Silent_p.F418F|UNC5D_ENST00000404895.2_Silent_p.F842F|UNC5D_ENST00000416672.1_Silent_p.F847F|UNC5D_ENST00000420357.1_Silent_p.F775F			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	842					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACAGCACTTTCCCTGCACAGA	0.468000													15	71					0	0	0.004990	0	0
MYH4	4622	broad.mit.edu	37	17	10366926	10366926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10366926G>A	ENST00000255381.2	-	8	793	c.683C>T	c.(682-684)cCc>cTc	p.P228L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	228	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTCCAGTAGGGGGTTAGCACT	0.418000													10	44					0	0	0.000978	0	0
LILRA2	11027	broad.mit.edu	37	19	55086440	55086440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55086440G>A	ENST00000251377.3	+	5	728	c.595G>A	c.(595-597)Gac>Aac	p.D199N	LILRA2_ENST00000251376.3_Missense_Mutation_p.D199N|LILRA2_ENST00000391737.1_Missense_Mutation_p.D187N|LILRA2_ENST00000391738.3_Missense_Mutation_p.D199N|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CTATGCTTATGACTCGAACTC	0.577000													8	87					0	0	0.006214	0	0
ITIH2	3698	broad.mit.edu	37	10	7763737	7763737	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:7763737G>A	ENST00000358415.4	+	8	1030	c.864G>A	c.(862-864)ctG>ctA	p.L288L	ITIH2_ENST00000379587.4_Silent_p.L277L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	288					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTGGTGAACTGGAGGTGAGTG	0.537000													12	72					0	0	0.001855	0	0
SKI	6497	broad.mit.edu	37	1	2160544	2160544	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:2160544C>T	ENST00000378536.4	+	1	411	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	113					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TCTCGTGCTTCGTGGTGGGAG	0.672000													4	24					0	0	0.000602	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519756	113519756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:113519756C>T	ENST00000284601.3	-	4	1459	c.1391G>A	c.(1390-1392)gGa>gAa	p.G464E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	464					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATTAAGGTTTCCTGCCATTAG	0.413000													19	67					0	0	0.002299	0	0
MYH8	4626	broad.mit.edu	37	17	10302201	10302201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10302201C>T	ENST00000403437.2	-	29	3959	c.3865G>A	c.(3865-3867)Gaa>Aaa	p.E1289K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1289					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGAGAATATTCACCTAGGAAT	0.323000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				5	33					0	0	0.003080	0	0
N6AMT2	221143	broad.mit.edu	37	13	21306032	21306032	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:21306032T>G	ENST00000382758.1	-	4	503	c.456A>C	c.(454-456)aaA>aaC	p.K152N	N6AMT2_ENST00000382754.4_Missense_Mutation_p.K152N			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	152							methyltransferase activity|nucleic acid binding			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTTCCGATGTTTTTCTGAGAC	0.438000													5	58					0	0	0.001168	0	0
KIAA1257	57501	broad.mit.edu	37	3	128696930	128696930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:128696930C>T	ENST00000265068.5	-	5	933	c.766G>A	c.(766-768)Gga>Aga	p.G256R	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Missense_Mutation_p.G144R|KIAA1257_ENST00000511438.1_Missense_Mutation_p.G256R	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	256										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TCTTGTTTTCCTGGCGGATGT	0.448000													5	50					0	0	0.000602	0	0
SLC26A3	1811	broad.mit.edu	37	7	107431658	107431658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:107431658C>T	ENST00000340010.5	-	5	589	c.405G>A	c.(403-405)atG>atA	p.M135I	SLC26A3_ENST00000422236.2_Missense_Mutation_p.M100I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	135					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GTCCCACCATCATACTCAGAA	0.428000													18	75					0	0	0.001523	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73944176	73944176	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:73944176C>T	ENST00000476977.1	+	9	2894	c.1203C>T	c.(1201-1203)ccC>ccT	p.P401P	GTF2IRD1_ENST00000424337.2_Silent_p.P401P|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Silent_p.P433P|GTF2IRD1_ENST00000265755.3_Silent_p.P401P			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	401						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCAAGCGCCCCTGCACTTATG	0.617000													5	41					0	0	0.001984	0	0
SPATA7	55812	broad.mit.edu	37	14	88904668	88904668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:88904668C>T	ENST00000556553.1	+	12	2165	c.1606C>T	c.(1606-1608)Cag>Tag	p.Q536*	SPATA7_ENST00000356583.5_Nonsense_Mutation_p.Q536*|SPATA7_ENST00000045347.7_Intron|SPATA7_ENST00000393545.4_Nonsense_Mutation_p.Q568*			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	568					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CCAATCTGTTCAGTTCTCCAG	0.398000													7	43					0	0	0.003080	0	0
TMEM5	10329	broad.mit.edu	37	12	64202716	64202716	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:64202716C>T	ENST00000537373.1	+	6	1344	c.396C>T	c.(394-396)ctC>ctT	p.L132L	TMEM5_ENST00000261234.6_Silent_p.L392L|TMEM5-AS1_ENST00000546214.1_RNA	NM_001278237.1	NP_001265166.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	392						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		GGAAGGAACTCCCTGCTGTTT	0.398000													4	42					0	0	0.001168	0	0
TNIK	23043	broad.mit.edu	37	3	170945975	170945975	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:170945975G>A	ENST00000436636.2	-	3	503	c.159C>T	c.(157-159)atC>atT	p.I53I	TNIK_ENST00000488470.1_Silent_p.I53I|TNIK_ENST00000475336.1_Silent_p.I53I|TNIK_ENST00000369326.5_Silent_p.I53I|TNIK_ENST00000357327.5_Silent_p.I53I|TNIK_ENST00000470834.1_Silent_p.I53I|TNIK_ENST00000341852.6_Silent_p.I53I|TNIK_ENST00000538048.1_Silent_p.I53I|TNIK_ENST00000284483.8_Silent_p.I53I|TNIK_ENST00000460047.1_Silent_p.I53I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	53	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCATAACCTTGATGGCTGCAA	0.413000													11	63					0	0	0.003163	0	0
BAIAP2	10458	broad.mit.edu	37	17	79078372	79078372	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:79078372C>T	ENST00000321300.6	+	10	1218	c.1125C>T	c.(1123-1125)ggC>ggT	p.G375G	BAIAP2_ENST00000392411.3_Silent_p.G297G|BAIAP2_ENST00000428708.2_Silent_p.G375G|BAIAP2_ENST00000416299.2_Silent_p.G238G|BAIAP2_ENST00000575712.1_Silent_p.G375G|BAIAP2_ENST00000575245.1_Silent_p.G408G|BAIAP2_ENST00000321280.7_Silent_p.G375G|BAIAP2_ENST00000435091.3_Silent_p.G375G	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	375	SH3.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	p.G375G(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGCGCAATGGCCGTATGCGGG	0.637000													9	46					0	0	0.001855	0	0
LRRC30	339291	broad.mit.edu	37	18	7231694	7231694	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:7231694G>A	ENST00000383467.2	+	1	572	c.558G>A	c.(556-558)aaG>aaA	p.K186K		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	186										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCTCCCTGAAGGAACTGATTT	0.552000													5	64					0	0	0.001168	0	0
STAB2	55576	broad.mit.edu	37	12	104122639	104122639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:104122639G>A	ENST00000388887.2	+	48	5152	c.4948G>A	c.(4948-4950)Gac>Aac	p.D1650N		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1650	FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TAAAGACTGGGACAAATACGG	0.488000													5	80					0	0	0.001168	0	0
ATP10D	57205	broad.mit.edu	37	4	47571048	47571048	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:47571048C>T	ENST00000273859.3	+	16	3317	c.3048C>T	c.(3046-3048)ttC>ttT	p.F1016F		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1016					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AAAAGCAGTTCCTGGAACTGA	0.547000													6	44					0	0	0.001984	0	0
FGD6	55785	broad.mit.edu	37	12	95604123	95604123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:95604123G>A	ENST00000343958.4	-	2	1160	c.937C>T	c.(937-939)Cca>Tca	p.P313S	FGD6_ENST00000546711.1_Missense_Mutation_p.P313S|FGD6_ENST00000549499.1_Missense_Mutation_p.P313S	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	313					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTGGGAGTTGGAAATTTTGGG	0.413000													12	93					0	0	0.002450	0	0
IGHG4	3503	broad.mit.edu	37	14	106091302	106091302	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:106091302C>T	ENST00000390543.2	-	0	591																											CACTTGTACTCCTTGCCGTTC	0.592000													17	326					0	0	0.008871	0	0
BCR	613	broad.mit.edu	37	22	23523650	23523650	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:23523650C>T	ENST00000305877.8	+	1	1254	c.503C>T	c.(502-504)cCc>cTc	p.P168L	BCR_ENST00000398512.5_Missense_Mutation_p.P168L|BCR_ENST00000359540.3_Missense_Mutation_p.P168L	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	168	Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CATGGCCAGCCCGGGGCGGAC	0.697000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								30	56					0	0	0.004289	0	0
FAM98B	283742	broad.mit.edu	37	15	38757492	38757492	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:38757492C>T	ENST00000397609.2	+	3	275	c.240C>T	c.(238-240)ttC>ttT	p.F80F	FAM98B_ENST00000491535.1_Silent_p.F80F	NM_173611.2	NP_775882.2	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	80						tRNA-splicing ligase complex	protein binding			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		TAGAGAGCTTCCAGCTTGAGA	0.303000													5	41					0	0	0.000602	0	0
ATP11A	23250	broad.mit.edu	37	13	113478715	113478715	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:113478715C>T	ENST00000487903.1	+	10	936	c.848C>T	c.(847-849)tCt>tTt	p.S283F	ATP11A_ENST00000375630.2_Missense_Mutation_p.S283F|ATP11A_ENST00000283558.8_Missense_Mutation_p.S283F|ATP11A_ENST00000375645.3_Missense_Mutation_p.S283F			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	283					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CAATCAAAATCTCAGAAGCGA	0.458000													9	58					0	0	0.004482	0	0
C15orf39	56905	broad.mit.edu	37	15	75499420	75499420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:75499420C>T	ENST00000360639.2	+	2	1351	c.1031C>T	c.(1030-1032)cCc>cTc	p.P344L	C15orf39_ENST00000394987.4_Missense_Mutation_p.P344L|C15orf39_ENST00000567617.1_Missense_Mutation_p.P344L			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	344										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GACGCTTACCCCTACCCCTCT	0.667000													6	69					0	0	0.001984	0	0
IFT122	55764	broad.mit.edu	37	3	129183591	129183591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:129183591C>T	ENST00000296266.3	+	8	875	c.683C>T	c.(682-684)tCg>tTg	p.S228L	IFT122_ENST00000431818.2_Missense_Mutation_p.S27L|IFT122_ENST00000349441.2_Missense_Mutation_p.S125L|IFT122_ENST00000440957.2_Missense_Mutation_p.S27L|IFT122_ENST00000347300.2_Missense_Mutation_p.S177L|IFT122_ENST00000348417.2_Missense_Mutation_p.S177L|IFT122_ENST00000507564.1_Missense_Mutation_p.S228L|IFT122_ENST00000504021.1_Missense_Mutation_p.S130L	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	177					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GGCTCCCTCTCGCCAATATGG	0.502000													10	80					0	0	0.008291	0	0
TLL1	7092	broad.mit.edu	37	4	166946578	166946578	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:166946578G>A	ENST00000061240.2	+	9	1800	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	TLL1_ENST00000513213.1_Missense_Mutation_p.E385K|TLL1_ENST00000507499.1_Missense_Mutation_p.E385K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	385	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GACCCCAGGGGAGAAGGTAGT	0.388000													5	44					0	0	0.000602	0	0
NAV3	89795	broad.mit.edu	37	12	78511934	78511934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:78511934C>T	ENST00000397909.2	+	14	3070	c.2897C>T	c.(2896-2898)tCt>tTt	p.S966F	NAV3_ENST00000536525.2_Missense_Mutation_p.S966F|NAV3_ENST00000228327.6_Missense_Mutation_p.S966F|NAV3_ENST00000266692.7_Missense_Mutation_p.S966F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	966						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGTGTCCTCTGGACTTCCT	0.542000										HNSCC(70;0.22)			10	91					0	0	0.000978	0	0
RGS8	85397	broad.mit.edu	37	1	182617422	182617422	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:182617422G>A	ENST00000483095.2	-	6	467	c.210C>T	c.(208-210)ttC>ttT	p.F70F	RGS8_ENST00000367557.4_Silent_p.F70F|RGS8_ENST00000258302.4_Silent_p.F88F|RGS8_ENST00000367556.1_Silent_p.F70F			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	70	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						AGAAGGCACGGAATGCAGCCA	0.463000													28	148					0	0	0.007291	0	0
CYP2C18	1562	broad.mit.edu	37	10	96495040	96495040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:96495040G>A	ENST00000285979.6	+	9	1511	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	CYP2C18_ENST00000339022.5_Missense_Mutation_p.E379K|CYP2C19_ENST00000464755.1_Intron	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		GTGTATGGGAGAGGGCCTGGC	0.433000													5	50					0	0	0.001168	0	0
KCNB1	3745	broad.mit.edu	37	20	47990438	47990438	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:47990438C>T	ENST00000371741.4	-	2	1825	c.1659G>A	c.(1657-1659)caG>caA	p.Q553Q		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	553					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTGGTTTGCTCTGTGCTGCTG	0.512000													12	121					0	0	0.001368	0	0
GPR111	222611	broad.mit.edu	37	6	47646785	47646785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:47646785G>A	ENST00000398742.2	+	3	231	c.182G>A	c.(181-183)gGa>gAa	p.G61E	GPR111_ENST00000296862.1_Missense_Mutation_p.G129E|GPR111_ENST00000507065.1_Missense_Mutation_p.G61E			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	129					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GACACTCAGGGAAATATGGGG	0.458000													10	30					0	0	0.008291	0	0
GPR179	440435	broad.mit.edu	37	17	36485159	36485159	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:36485159C>T	ENST00000342292.4	-	11	4313	c.4293G>A	c.(4291-4293)gaG>gaA	p.E1431E		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1431						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AATCTGTACTCTCCCATGGAC	0.517000													13	45					0	0	0.001368	0	0
ITGBL1	9358	broad.mit.edu	37	13	102366796	102366796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:102366796C>T	ENST00000376180.3	+	10	1507	c.1288C>T	c.(1288-1290)Cat>Tat	p.H430Y	ITGBL1_ENST00000376162.3_Missense_Mutation_p.H337Y|ITGBL1_ENST00000545560.2_Missense_Mutation_p.H289Y	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	430	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGGTTCTTGTCATTGTGGGAA	0.413000													15	100					0	0	0.006122	0	0
LALBA	3906	broad.mit.edu	37	12	48962326	48962326	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:48962326G>A	ENST00000549817.1	-	3	387	c.342C>T	c.(340-342)atC>atT	p.I114I	LALBA_ENST00000301046.2_Silent_p.I114I			P00709	LALBA_HUMAN	lactalbumin, alpha-	114					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						TAATATCCAGGATCTTCTTGG	0.438000													4	48					0	0	0.000602	0	0
TPTE	7179	broad.mit.edu	37	21	10970043	10970043	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:10970043T>A	ENST00000298232.7	-	6	452	c.85A>T	c.(85-87)Aaa>Taa	p.K29*	TPTE_ENST00000342420.5_Nonsense_Mutation_p.K29*|TPTE_ENST00000361285.4_Nonsense_Mutation_p.K29*|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	29					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTTGCTCCTTTAAATTCACTT	0.388000													12	157					0	0	0.002450	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85164849	85164849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:85164849G>A	ENST00000448803.2	+	3	1715	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E475K|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.E325K|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E474K	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	475					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GAAACCCTACGAGTGCCTGAC	0.572000													4	23					0	0	0.000602	0	0
CTSZ	1522	broad.mit.edu	37	20	57581453	57581453	+	Silent	SNP	G	G	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:57581453G>C	ENST00000217131.5	-	2	349	c.231C>G	c.(229-231)gcC>gcG	p.A77A		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	77					proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			GGGTGATGCTGGCATAGTTGA	0.622000													4	43					0	0	0.000248	0	0
TRGC2	6967	broad.mit.edu	37	7	38288965	38288965	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:38288965C>T	ENST00000436911.2	-	0	208																											AGCTAAATTTCATGTATGTGT	0.388000													14	156					0	0	0.001855	0	0
SNHG14	104472715	broad.mit.edu	37	15	25425674	25425674	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:25425674G>A	ENST00000441592.2	+	0	575				SNORD115-6_ENST00000363942.1_RNA																							ATATTGTTCTGAAGAGAGGTG	0.502000													20	207					0	0	0.002780	0	0
SCRIB	23513	broad.mit.edu	37	8	144894450	144894450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:144894450C>T	ENST00000356994.2	-	9	898	c.892G>A	c.(892-894)Gag>Aag	p.E298K	SCRIB_ENST00000320476.3_Missense_Mutation_p.E298K|SCRIB_ENST00000377533.3_Missense_Mutation_p.E217K	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	298	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGCAGGTTCTCCGTGAGGATC	0.597000													18	55					0	0	0.007413	0	0
FAAH2	158584	broad.mit.edu	37	X	57405152	57405152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:57405152C>T	ENST00000374900.4	+	6	931	c.811C>T	c.(811-813)Cct>Tct	p.P271S		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	271						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GTGCACTGGTCCTATGTGCCG	0.498000										HNSCC(52;0.14)			12	21					0	0	0.001368	0	0
RPSAP52	204010	broad.mit.edu	37	12	66151955	66151955	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:66151955G>A	ENST00000489520.2	-	0	988					NR_026825.2																						TGGAGCTGTGGACCAGTCTTC	0.507000													3	7					0	0	0.004672	0	0
IL1RL1	9173	broad.mit.edu	37	2	102956711	102956711	+	Silent	SNP	A	A	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:102956711A>C	ENST00000311734.2	+	4	765	c.426A>C	c.(424-426)acA>acC	p.T142T	IL1RL1_ENST00000393393.3_Silent_p.T142T|IL1RL1_ENST00000233954.1_Silent_p.T142T|IL1RL1_ENST00000409584.1_Silent_p.T142T|IL1RL1_ENST00000404917.2_Silent_p.T25T			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	142	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ACAACTGGACAGCACCTCTTG	0.368000													5	25					0	0	0.001984	0	0
LMX1A	4009	broad.mit.edu	37	1	165218696	165218696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:165218696C>T	ENST00000342310.3	-	4	827	c.445G>A	c.(445-447)Gag>Aag	p.E149K	LMX1A_ENST00000367893.4_Missense_Mutation_p.E149K|LMX1A_ENST00000294816.2_Missense_Mutation_p.E149K	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	149	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CGCTCCTTCTCATAGTCCCCT	0.622000													13	34					0	0	0.002450	0	0
DENND6B	414918	broad.mit.edu	37	22	50750573	50750573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:50750573G>A	ENST00000413817.2	-	20	1824	c.1753C>T	c.(1753-1755)Ccc>Tcc	p.P585S		NM_001001794.3	NP_001001794.3			DENN/MADD domain containing 6B																		TTGTTCTAGGGAGGGCACAAG	0.652000													6	39					0	0	0.001168	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756700	94756700	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:94756700C>T	ENST00000554723.1	-	2	769	c.351G>A	c.(349-351)aaG>aaA	p.K117K	SERPINA10_ENST00000554173.1_Silent_p.K77K|SERPINA10_ENST00000393096.1_Silent_p.K77K|SERPINA10_ENST00000261994.4_Silent_p.K77K			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	77					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TTGAAGTCTCCTTGGCAAGCT	0.557000													4	33					0	0	0.000602	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6093488	6093488	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:6093488C>T	ENST00000400104.3	-	15	1439	c.1239G>A	c.(1237-1239)aaG>aaA	p.K413K	L3MBTL4_ENST00000317931.7_Silent_p.K413K|L3MBTL4_ENST00000284898.6_Silent_p.K413K|L3MBTL4_ENST00000535782.1_Silent_p.K226K|L3MBTL4_ENST00000400105.2_Silent_p.K413K			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	413					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GTGTTGCCTCCTTTTTCAAGT	0.388000													6	74					0	0	0.001168	0	0
MYH4	4622	broad.mit.edu	37	17	10363379	10363379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10363379C>T	ENST00000255381.2	-	14	1416	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	436	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AACATCTTCTCGTAGATGGCT	0.483000													10	95					0	0	0.008291	0	0
MMRN2	79812	broad.mit.edu	37	10	88702993	88702993	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:88702993C>T	ENST00000372027.4	-	6	1621	c.1548G>A	c.(1546-1548)gaG>gaA	p.E516E		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	516						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CCTGGGTCTCCTCCAGGGCAC	0.667000													10	36					0	0	0.000978	0	0
OR2T33	391195	broad.mit.edu	37	1	248436183	248436183	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248436183G>A	ENST00000318021.2	-	1	955	c.934C>T	c.(934-936)Cag>Tag	p.Q312*		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCATTTTGCTGGTGTTTTATG	0.423000													12	133					0	0	0.001855	0	0
NDUFAF7	55471	broad.mit.edu	37	2	37468929	37468929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:37468929C>T	ENST00000002125.4	+	5	657	c.617C>T	c.(616-618)cCa>cTa	p.P206L	NDUFAF7_ENST00000336237.6_Intron|NDUFAF7_ENST00000483999.1_3'UTR	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7																		CACGATGTTCCAAAAGGTAAT	0.393000													6	30					0	0	0.001168	0	0
LELP1	149018	broad.mit.edu	37	1	153177294	153177294	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:153177294G>A	ENST00000368747.1	+	2	221	c.111G>A	c.(109-111)aaG>aaA	p.K37K		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	37	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGTTTAAAGAAGCTGCTGC	0.512000													21	56					0	0	0.002299	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51957508	51957508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:51957508C>T	ENST00000321424.3	-	6	1276	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.E295K|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.E311K	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	404					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.E404Q(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTTGCATCTTCCATGCCTGTA	0.597000													11	70					0	0	0.000978	0	0
FAT4	79633	broad.mit.edu	37	4	126411707	126411707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:126411707G>A	ENST00000394329.3	+	17	13743	c.13730G>A	c.(13729-13731)gGg>gAg	p.G4577E	FAT4_ENST00000335110.5_Missense_Mutation_p.G2818E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4577					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGCCTGAAGGGAACCCAAAA	0.458000													4	48					0	0	0.000248	0	0
EGR1	1958	broad.mit.edu	37	5	137803494	137803494	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:137803494C>T	ENST00000239938.4	+	2	1628	c.1356C>T	c.(1354-1356)tcC>tcT	p.S452S		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	452					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			cttacccgtccccggttacta	0.602000													3	10					0	0	0.004672	0	0
CHD5	26038	broad.mit.edu	37	1	6214775	6214775	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:6214775G>A	ENST00000262450.3	-	5	789	c.690C>T	c.(688-690)ccC>ccT	p.P230P	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	230					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCACCTGCGGGGGGCTGACGG	0.682000													4	35					0	0	0.000602	0	0
ATP2C2	9914	broad.mit.edu	37	16	84459400	84459400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:84459400G>A	ENST00000416219.2	+	11	1068	c.979G>A	c.(979-981)Ggg>Agg	p.G327R	ATP2C2_ENST00000262429.4_Missense_Mutation_p.G327R|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	327					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	p.G327W(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTTCACGATCGGGGTCAGGTA	0.547000													23	144					0	0	0.003954	0	0
PRKD2	25865	broad.mit.edu	37	19	47177968	47177968	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:47177968G>A	ENST00000433867.1	-	19	2926	c.2449C>T	c.(2449-2451)Cga>Tga	p.R817*	PRKD2_ENST00000601806.1_Nonsense_Mutation_p.R660*|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000291281.4_Nonsense_Mutation_p.R817*|PRKD2_ENST00000600194.1_Nonsense_Mutation_p.R660*|PRKD2_ENST00000595515.1_Nonsense_Mutation_p.R827*	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	817					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TCCAGCTCTCGGAGGTCCAGC	0.602000													5	18					0	0	0.001984	0	0
CRK	1398	broad.mit.edu	37	17	1340197	1340197	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:1340197G>A	ENST00000300574.2	-	2	634	c.494C>T	c.(493-495)cCt>cTt	p.P165L	CRK_ENST00000572145.1_5'UTR|CRK_ENST00000398970.5_Missense_Mutation_p.P165L|CRK_ENST00000574295.1_Intron	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	165	SH3 1.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		CTGCTCTTCAGGCTTGTCCCG	0.517000													24	58					0	0	0.006320	0	0
RP1	6101	broad.mit.edu	37	8	55539144	55539144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:55539144C>T	ENST00000220676.1	+	4	2850	c.2702C>T	c.(2701-2703)cCt>cTt	p.P901L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	901					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTGAAAAAACCTGATTTTCCT	0.333000													10	20					0	0	0.006214	0	0
TTC40	54777	broad.mit.edu	37	10	134646941	134646941	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:134646941G>A	ENST00000368586.5	-	50	7138	c.7038C>T	c.(7036-7038)ttC>ttT	p.F2346F	TTC40_ENST00000263170.5_Silent_p.F507F	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	507										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TCCCTTCATCGAACACAGAGA	0.517000													11	91					0	0	0.008291	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884047	228884047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:228884047C>T	ENST00000392056.3	-	7	1569	c.1523G>A	c.(1522-1524)gGa>gAa	p.G508E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G508E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	508						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGAAATAGTTCCAATCACAGT	0.522000													5	18					0	0	0.000602	0	0
CCNL1	57018	broad.mit.edu	37	3	156866200	156866200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:156866200G>A	ENST00000295926.3	-	11	1529	c.1411C>T	c.(1411-1413)Cgt>Tgt	p.R471C	CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	471					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GATCGAGAACGAGATTTTTTC	0.448000													8	98					0	0	0.003080	0	0
DNAJB14	79982	broad.mit.edu	37	4	100822258	100822258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:100822258C>T	ENST00000442697.2	-	8	1221	c.1067G>A	c.(1066-1068)aGg>aAg	p.R356K		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	356					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		ATCTGCCTTCCTTCGGAGTCG	0.348000													6	65					0	0	0.001168	0	0
INTS3	65123	broad.mit.edu	37	1	153744398	153744398	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:153744398C>T	ENST00000456435.1	+	26	3247	c.2061C>T	c.(2059-2061)tcC>tcT	p.S687S	INTS3_ENST00000435409.2_Silent_p.S893S|INTS3_ENST00000512605.1_Silent_p.S687S|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000318967.2_Silent_p.S893S			Q68E01	INT3_HUMAN	integrator complex subunit 3	894					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACATCAAGTCCCTGCTCATCA	0.607000											OREG0013827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	26					0	0	0.000602	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21457425	21457425	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:21457425G>A	ENST00000307378.6	-	7	1245	c.525C>T	c.(523-525)atC>atT	p.I175I	SLCO1A2_ENST00000390670.3_Silent_p.I173I|SLCO1A2_ENST00000537524.1_Silent_p.I43I|SLCO1A2_ENST00000452078.1_Silent_p.I175I|SLCO1A2_ENST00000458504.1_Silent_p.I43I	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	175					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CCAAAGGCAGGATGGGAGTTT	0.353000													9	33					0	0	0.008291	0	0
LRP12	29967	broad.mit.edu	37	8	105509935	105509935	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:105509935C>T	ENST00000276654.5	-	5	953	c.845G>A	c.(844-846)gGa>gAa	p.G282E	LRP12_ENST00000424843.2_Missense_Mutation_p.G263E	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	282	CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCAATTGCTTCCAGGAGGATA	0.388000													5	28					0	0	0.000602	0	0
XKR7	343702	broad.mit.edu	37	20	30584828	30584828	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:30584828C>T	ENST00000217299.3	+	3	1482	c.1308C>T	c.(1306-1308)taC>taT	p.Y436Y		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	436						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTGTCTACTACTGTCTCCTGC	0.587000													8	64					0	0	0.008291	0	0
THNSL1	79896	broad.mit.edu	37	10	25314038	25314038	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:25314038A>T	ENST00000524413.1	+	3	2233	c.1886A>T	c.(1885-1887)aAc>aTc	p.N629I	THNSL1_ENST00000376356.4_Missense_Mutation_p.N629I			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	629					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	GCAGCTATTAACTCCACCTAT	0.438000													11	48					0	0	0.008291	0	0
EFCAB5	374786	broad.mit.edu	37	17	28378158	28378158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:28378158G>A	ENST00000394835.3	+	9	1415	c.1223G>A	c.(1222-1224)aGg>aAg	p.R408K	EFCAB5_ENST00000320856.5_Missense_Mutation_p.R408K|EFCAB5_ENST00000536908.2_Missense_Mutation_p.R352K|EFCAB5_ENST00000541045.1_Missense_Mutation_p.R65K|EFCAB5_ENST00000378738.3_Missense_Mutation_p.R408K|EFCAB5_ENST00000394832.2_Missense_Mutation_p.R408K	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	408							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GATCGGCAGAGGACATTGGCC	0.418000													6	49					0	0	0.006214	0	0
LILRA1	11024	broad.mit.edu	37	19	55110717	55110717	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55110717C>T	ENST00000453777.1	+	6	848	c.678C>T	c.(676-678)ctC>ctT	p.L226L	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Silent_p.L426L|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	426	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.L426L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGAGACCCTCAGCCCACCAC	0.453000													4	27					0	0	0.000248	0	0
LEPREL1	55214	broad.mit.edu	37	3	189713176	189713176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:189713176G>A	ENST00000319332.5	-	2	733	c.536C>T	c.(535-537)cCt>cTt	p.P179L	LEPREL1_ENST00000427335.2_5'UTR	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	179					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CATGTGCTCAGGGTTAGCCAC	0.433000													4	40					0	0	0.000602	0	0
UBN1	29855	broad.mit.edu	37	16	4924582	4924582	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:4924582C>T	ENST00000396658.4	+	14	2874	c.2171C>T	c.(2170-2172)tCt>tTt	p.S724F	UBN1_ENST00000262376.6_Missense_Mutation_p.S724F|UBN1_ENST00000590769.1_Missense_Mutation_p.S724F|UBN1_ENST00000545171.1_Missense_Mutation_p.S724F	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	724					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CCTAGTCCTTCTGCTCCACCA	0.498000													20	214					0	0	0.003954	0	0
TLR4	7099	broad.mit.edu	37	9	120475736	120475736	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:120475736C>T	ENST00000355622.6	+	3	1431	c.1330C>T	c.(1330-1332)Cta>Tta	p.L444L	TLR4_ENST00000394487.4_Silent_p.L404L|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	444					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TTCAGTATTCCTATCACTCAG	0.383000													10	54					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179569978	179569978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179569978C>T	ENST00000589042.1	-	103	29751	c.29527G>A	c.(29527-29529)Gga>Aga	p.G9843R	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G8599R|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G9526R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9526	Ig-like 79.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGTGATTCCATACATGCGG	0.378000													14	53					0	0	0.002450	0	0
NTRK3	4916	broad.mit.edu	37	15	88522592	88522592	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:88522592C>T	ENST00000317501.3	-	15	1984	c.1823G>A	c.(1822-1824)gGa>gAa	p.G608E	NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.G608E|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000394480.1_Intron	NM_001007156.2	NP_001007157.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	0	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCCATGACGTCCTTTGCTGAA	0.433000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			4	56					0	0	0.000248	0	0
MYCT1	80177	broad.mit.edu	37	6	153043307	153043307	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:153043307C>T	ENST00000367245.5	+	2	635	c.627C>T	c.(625-627)tcC>tcT	p.S209S	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	209						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		ACTACTGGTCCAGTAACAGTC	0.527000													7	71					0	0	0.003080	0	0
CCP110	9738	broad.mit.edu	37	16	19548407	19548407	+	Silent	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:19548407A>G	ENST00000396212.2	+	5	1852	c.1416A>G	c.(1414-1416)aaA>aaG	p.K472K	CCP110_ENST00000381396.5_Silent_p.K472K|CCP110_ENST00000396208.2_Silent_p.K472K	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	472	Interaction with CEP76.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TAGAAAATAAAGTTACTCATG	0.393000													4	34					0	0	0.000248	0	0
NPR2	4882	broad.mit.edu	37	9	35802729	35802729	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:35802729G>A	ENST00000342694.2	+	12	2071	c.1815_splice	c.e12-1	p.D606_splice		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	606	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CACTTACCAGGATATTCTAGA	0.443000													4	47					0	0	0.001984	0	0
HID1	283987	broad.mit.edu	37	17	72951961	72951961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:72951961G>A	ENST00000425042.2	-	13	1639	c.1562C>T	c.(1561-1563)tCt>tTt	p.S521F		NM_030630.2	NP_085133.1			HID1 domain containing																		CTGGGCGGCAGAGAAGAGGAA	0.572000													4	75					0	0	0.001168	0	0
ZNF285	26974	broad.mit.edu	37	19	44891169	44891169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:44891169G>A	ENST00000330997.4	-	4	1302	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F	ZNF285_ENST00000591679.1_Missense_Mutation_p.S420F|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.S413F	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TTGAAGAACGGAGCTTGAACT	0.493000													9	34					0	0	0.008291	0	0
NUF2	83540	broad.mit.edu	37	1	163306561	163306561	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:163306561T>G	ENST00000271452.3	+	6	637	c.358T>G	c.(358-360)Ttt>Gtt	p.F120V	NUF2_ENST00000367900.3_Missense_Mutation_p.F120V|NUF2_ENST00000524800.1_Missense_Mutation_p.F120V|NUF2_ENST00000490881.1_3'UTR	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	120	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GACAAGTCGGTTTTTAAGTGG	0.313000													8	37					0	0	0.000978	0	0
MYO1G	64005	broad.mit.edu	37	7	45014788	45014788	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:45014788G>A	ENST00000258787.7	-	5	739	c.603C>T	c.(601-603)ttC>ttT	p.F201F		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	201	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						AGAAGGCGTGGAAGTTTCTTT	0.597000													19	235					0	0	0.001882	0	0
CARNS1	57571	broad.mit.edu	37	11	67191319	67191319	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:67191319G>A	ENST00000445895.2	+	9	2214	c.2100G>A	c.(2098-2100)cgG>cgA	p.R700R	CARNS1_ENST00000423745.2_Silent_p.R577R|CARNS1_ENST00000531040.1_Silent_p.R674R|CARNS1_ENST00000307823.3_Silent_p.R577R			A5YM72	CRNS1_HUMAN	carnosine synthase 1	577	ATP-grasp.				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						ACTTTTCCCGGATTACCCGAG	0.632000													4	22					0	0	0.000602	0	0
KBTBD3	143879	broad.mit.edu	37	11	105925012	105925012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:105925012G>A	ENST00000526793.1	-	3	563	c.404C>T	c.(403-405)tCc>tTc	p.S135F	KBTBD3_ENST00000531837.1_Missense_Mutation_p.S135F|KBTBD3_ENST00000534815.1_Missense_Mutation_p.S56F	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	131										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GGATAGGAAGGAAACTTGAAG	0.323000													3	13					0	0	0.004672	0	0
TOX2	84969	broad.mit.edu	37	20	42635225	42635225	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:42635225G>A	ENST00000358131.5	+	3	439	c.231G>A	c.(229-231)gaG>gaA	p.E77E	TOX2_ENST00000341197.3_Silent_p.E68E|TOX2_ENST00000372999.1_Silent_p.E26E|TOX2_ENST00000423191.1_Silent_p.E26E	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	77	Required for transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AAGACTATGAGATCCCCCCGA	0.577000													14	50					0	0	0.002450	0	0
SACS	26278	broad.mit.edu	37	13	23912636	23912636	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:23912636A>C	ENST00000382298.3	-	10	5967	c.5379T>G	c.(5377-5379)ttT>ttG	p.F1793L	SACS_ENST00000402364.1_Missense_Mutation_p.F1043L|SACS_ENST00000382292.3_Missense_Mutation_p.F1793L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1793					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAGCCATTTCAAAGAGAGCAG	0.443000													10	66					0	0	0.008291	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18443928	18443928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:18443928C>T	ENST00000433979.1	+	4	1017	c.901C>T	c.(901-903)Ctt>Ttt	p.L301F	PIK3C2G_ENST00000535651.1_Missense_Mutation_p.L301F|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.L301F|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000536967.1_3'UTR|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.L301F	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	301					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AACACAACCTCTTCATTTTAT	0.363000													6	21					0	0	0.001168	0	0
CD163	9332	broad.mit.edu	37	12	7640503	7640503	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:7640503C>T	ENST00000359156.4	-	7	1803	c.1601G>A	c.(1600-1602)gGa>gAa	p.G534E	CD163_ENST00000396620.3_Missense_Mutation_p.G534E|CD163_ENST00000432237.2_Missense_Mutation_p.G534E|CD163_ENST00000541972.1_Missense_Mutation_p.G522E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	534	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATTTCCCTCTCCAAAGTGAGC	0.527000													6	40					0	0	0.001984	0	0
BRPF3	27154	broad.mit.edu	37	6	36172537	36172537	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:36172537C>T	ENST00000357641.6	+	3	1804	c.1551C>T	c.(1549-1551)gtC>gtT	p.V517V	BRPF3_ENST00000534400.1_Silent_p.V517V|BRPF3_ENST00000443324.2_Silent_p.V517V|BRPF3_ENST00000543502.1_Silent_p.V517V|BRPF3_ENST00000534694.1_Silent_p.V517V|BRPF3_ENST00000339717.7_Silent_p.V517V	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	517					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GGAATGGTGTCCCTCTTATCC	0.522000													11	117					0	0	0.000978	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610048	47610048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:47610048G>A	ENST00000371890.3	+	6	691	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371891.3_Silent_p.R270R|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Silent_p.R270R			Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	0						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCAACTGAGGAAGGCTCAAC	0.542000													23	68					0	0	0.002299	0	0
OR3A2	4995	broad.mit.edu	37	17	3181660	3181660	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:3181660G>A	ENST00000408891.2	-	1	608	c.570C>T	c.(568-570)ctC>ctT	p.L190L		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	190			L -> V (in dbSNP:rs9901356).		sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						AGAGCTGTGGGAGGTCACAGT	0.547000													10	49					0	0	0.008291	0	0
CSMD3	114788	broad.mit.edu	37	8	113326250	113326250	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:113326250G>A	ENST00000297405.5	-	49	7825	c.7581C>T	c.(7579-7581)tcC>tcT	p.S2527S	CSMD3_ENST00000343508.3_Silent_p.S2487S|CSMD3_ENST00000352409.3_Silent_p.S2457S|CSMD3_ENST00000455883.2_Silent_p.S2423S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2527	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCCCACTGAGGGAAATAAGCA	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	51					0	0	0.000602	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623357	21623357	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:21623357G>A	ENST00000304418.3	-	1	865	c.828C>T	c.(826-828)atC>atT	p.I276I		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		TCATTTTCAGGATGGTGTTGA	0.473000													6	17					0	0	0.001984	0	0
MACF1	23499	broad.mit.edu	37	1	39798726	39798726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:39798726C>T	ENST00000564288.1	+	37	7243	c.6466C>T	c.(6466-6468)Cca>Tca	p.P2156S	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.P2193S|MACF1_ENST00000289893.4_Missense_Mutation_p.P596S|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.P2161S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2161					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTTGAAACACCAAAGAAAGA	0.443000													7	36					0	0	0.003080	0	0
TMEM106C	79022	broad.mit.edu	37	12	48359877	48359877	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:48359877C>T	ENST00000429772.2	+	5	530	c.417C>T	c.(415-417)acC>acT	p.T139T	TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000552546.1_Silent_p.T68T|TMEM106C_ENST00000552561.1_Silent_p.T139T|TMEM106C_ENST00000449758.2_Silent_p.T139T|TMEM106C_ENST00000550552.1_Silent_p.T139T|TMEM106C_ENST00000256686.6_Silent_p.T139T	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	139						endoplasmic reticulum membrane|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TGTAGGCCACCCTGAAAATCA	0.512000													8	39					0	0	0.004482	0	0
PEX1	5189	broad.mit.edu	37	7	92147277	92147277	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:92147277G>A	ENST00000248633.4	-	5	647	c.552C>T	c.(550-552)gcC>gcT	p.A184A	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Silent_p.A184A	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	184					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TATTCTCTTTGGCTCGGCGTG	0.393000													10	52					0	0	0.006214	0	0
PTGIS	5740	broad.mit.edu	37	20	48130782	48130782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:48130782C>T	ENST00000244043.4	-	7	1035	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	336					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GGTGTGCTGTCTAGAACCTTC	0.587000													5	50					0	0	0.000602	0	0
PRG2	5553	broad.mit.edu	37	11	57156616	57156616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:57156616G>A	ENST00000311862.5	-	3	306	c.233C>T	c.(232-234)tCa>tTa	p.S78L	PRG2_ENST00000533605.1_Missense_Mutation_p.S78L|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.S183L|PRG2_ENST00000525955.1_Missense_Mutation_p.S78L	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTGGCACTGAGATAGACTC	0.557000													11	87					0	0	0.001368	0	0
SLC9C1	285335	broad.mit.edu	37	3	111988903	111988903	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:111988903A>T	ENST00000305815.5	-	7	887	c.635T>A	c.(634-636)aTt>aAt	p.I212N	SLC9C1_ENST00000487372.1_Missense_Mutation_p.I212N	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	212					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										ATATGAACAAATTCCACCCAC	0.308000													4	80					0	0	0.000602	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870774	51870774	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:51870774G>A	ENST00000371497.5	+	2	1664	c.777G>A	c.(775-777)agG>agA	p.R259R	TSHZ2_ENST00000603338.2_Silent_p.R256R|TSHZ2_ENST00000329613.6_Silent_p.R256R	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	259					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAAAGCCCAGGAAAAGGGCTT	0.478000													5	28					0	0	0.000602	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919715	142919715	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:142919715G>A	ENST00000408947.3	+	1	586	c.544G>A	c.(544-546)Gag>Aag	p.E182K		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	182					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CAACTCCACGGAGAAGAAGTA	0.458000													8	118					0	0	0.003080	0	0
SNAPC4	6621	broad.mit.edu	37	9	139286445	139286445	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:139286445G>A	ENST00000298532.2	-	9	1292	c.924C>T	c.(922-924)atC>atT	p.I308I		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	308	HTH myb-type 1.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GTGCAGCCGCGATCGCCTGCA	0.657000													8	64					0	0	0.003080	0	0
CSTF2T	23283	broad.mit.edu	37	10	53458049	53458049	+	Missense_Mutation	SNP	G	G	A	rs144891671		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:53458049G>A	ENST00000331173.4	-	1	1306	c.1261C>T	c.(1261-1263)Cgt>Tgt	p.R421C	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	421	9 X 5 AA tandem repeats of M-E-T-R-[AG].|Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TCCATGGCACGAGTCTCCATC	0.527000													13	78					0	0	0.001368	0	0
PRSS22	64063	broad.mit.edu	37	16	2903974	2903974	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:2903974G>A	ENST00000161006.3	-	5	674	c.609C>T	c.(607-609)atC>atT	p.I203I	PRSS22_ENST00000571228.1_Silent_p.I93I	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	203	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						CTTCCGAGTCGATGATAGGAA	0.602000													15	87					0	0	0.003163	0	0
TTC17	55761	broad.mit.edu	37	11	43465732	43465732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:43465732C>T	ENST00000039989.4	+	18	2652	c.2638C>T	c.(2638-2640)Ccc>Tcc	p.P880S	TTC17_ENST00000299240.6_Missense_Mutation_p.P937S|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	880							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GATCACTGGCCCCAAGGTGGC	0.398000													4	29					0	0	0.000602	0	0
PTPRU	10076	broad.mit.edu	37	1	29581889	29581889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:29581889G>A	ENST00000356870.3	+	2	286	c.176G>A	c.(175-177)gGc>gAc	p.G59D	PTPRU_ENST00000460170.2_Missense_Mutation_p.G59D|PTPRU_ENST00000323874.8_Missense_Mutation_p.G59D|PTPRU_ENST00000345512.3_Missense_Mutation_p.G59D|PTPRU_ENST00000428026.2_Missense_Mutation_p.G59D|PTPRU_ENST00000373779.3_Missense_Mutation_p.G59D	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	59	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ATCCACCCTGGCACCCGGGCA	0.612000													11	51					0	0	0.001855	0	0
NUP153	9972	broad.mit.edu	37	6	17637557	17637557	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:17637557G>A	ENST00000262077.2	-	16	2290	c.2291C>T	c.(2290-2292)tCg>tTg	p.S764L	NUP153_ENST00000537253.1_Missense_Mutation_p.S795L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	764					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AGCACTTTCCGAAACCACTGT	0.433000													8	69					0	0	0.003080	0	0
SCN10A	6336	broad.mit.edu	37	3	38812823	38812823	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:38812823G>A	ENST00000449082.2	-	4	545	c.546C>T	c.(544-546)ttC>ttT	p.F182F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	182					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCAGGTACGTGAACTCATTTA	0.443000													16	62					0	0	0.003163	0	0
LGR6	59352	broad.mit.edu	37	1	202287170	202287170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:202287170G>A	ENST00000367278.3	+	18	1828	c.1739G>A	c.(1738-1740)gGa>gAa	p.G580E	LGR6_ENST00000439764.2_Missense_Mutation_p.G441E|LGR6_ENST00000255432.7_Missense_Mutation_p.G528E	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	580						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CTCTGCAATGGACTGGTGCTG	0.617000													24	54					0	0	0.004656	0	0
DAGLA	747	broad.mit.edu	37	11	61487708	61487708	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:61487708C>T	ENST00000257215.5	+	2	197	c.81C>T	c.(79-81)ctC>ctT	p.L27L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	27					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TCCTCTTTCTCCTGCATACCA	0.627000													6	49					0	0	0.003080	0	0
SGCG	6445	broad.mit.edu	37	13	23869566	23869566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:23869566C>T	ENST00000218867.3	+	6	642	c.518C>T	c.(517-519)gCt>gTt	p.A173V	SGCG_ENST00000545013.1_Missense_Mutation_p.A173V|SGCG_ENST00000537476.1_Missense_Mutation_p.A173V	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	173					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		CCTGAAGGGGCTCTTTTTGAA	0.378000													11	99					0	0	0.001368	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633878	70633878	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:70633878T>A	ENST00000381269.2	-	2	2015	c.1262A>T	c.(1261-1263)aAa>aTa	p.K421I	SLC8A3_ENST00000356921.2_Missense_Mutation_p.K421I|SLC8A3_ENST00000528359.1_Missense_Mutation_p.K421I|SLC8A3_ENST00000357887.3_Missense_Mutation_p.K421I|SLC8A3_ENST00000534137.1_Missense_Mutation_p.K421I	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	421	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTCTCCCCCTTTCCTCACCAC	0.507000													5	63					0	0	0.001984	0	0
TFIP11	24144	broad.mit.edu	37	22	26902376	26902376	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:26902376G>A	ENST00000407690.1	-	6	696	c.413C>T	c.(412-414)tCt>tTt	p.S138F	TFIP11_ENST00000407431.1_Missense_Mutation_p.S138F|TFIP11_ENST00000407148.1_Missense_Mutation_p.S138F|TFIP11_ENST00000405938.1_Missense_Mutation_p.S138F	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	138					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GTCCATGAAAGATTTGGTTCC	0.443000													13	60					0	0	0.002450	0	0
PCK1	5105	broad.mit.edu	37	20	56139563	56139563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:56139563G>A	ENST00000535860.1	+	5	1015	c.904G>A	c.(904-906)Gag>Aag	p.E302K	PCK1_ENST00000319441.4_Silent_p.S404S|PCK1_ENST00000543666.1_Silent_p.S87S			P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	6					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ACCCCAACTCGAGGTTCTGCA	0.587000													15	66					0	0	0.004990	0	0
OR4S2	219431	broad.mit.edu	37	11	55418704	55418704	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:55418704G>A	ENST00000312422.2	+	1	325	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGGTTGCACTGAGATCTTCAT	0.418000													11	109					0	0	0.008291	0	0
ZNF385A	25946	broad.mit.edu	37	12	54764811	54764811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:54764811C>T	ENST00000546970.1	-	7	963	c.674G>A	c.(673-675)gGg>gAg	p.G225E	ZNF385A_ENST00000394313.2_Missense_Mutation_p.G225E|ZNF385A_ENST00000551771.1_Missense_Mutation_p.G144E|ZNF385A_ENST00000551109.1_Missense_Mutation_p.G225E|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000352268.6_Missense_Mutation_p.G164E|ZNF385A_ENST00000552382.1_5'UTR|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000338010.5_Missense_Mutation_p.G245E			Q96PM9	Z385A_HUMAN	zinc finger protein 385A	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						GGTGGGAGGCCCCAGCCGAGG	0.602000													7	95					0	0	0.001984	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37499389	37499389	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:37499389C>T	ENST00000381792.2	-	2	209	c.69G>A	c.(67-69)gaG>gaA	p.E23E	TMPRSS6_ENST00000346753.3_Silent_p.E32E|TMPRSS6_ENST00000406856.1_Silent_p.E23E|TMPRSS6_ENST00000442782.2_Silent_p.E32E|TMPRSS6_ENST00000406725.1_Silent_p.E23E			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	32					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TCCCCTCCGGCTCCGCTTCCT	0.662000													14	120					0	0	0.003163	0	0
MTUS2	23281	broad.mit.edu	37	13	29600796	29600796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:29600796C>T	ENST00000431530.3	+	1	2049	c.1991C>T	c.(1990-1992)gCc>gTc	p.A664V		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	654	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AATCCCCAGGCCCTGGGCCAG	0.572000													4	25					0	0	0.000248	0	0
NSUN7	79730	broad.mit.edu	37	4	40763290	40763290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:40763290G>A	ENST00000381782.2	+	4	955	c.460G>A	c.(460-462)Gtt>Att	p.V154I	NSUN7_ENST00000316607.5_Missense_Mutation_p.V154I	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CATATCAGAAGTTCAAGAAGT	0.308000													13	104					0	0	0.002450	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818797	159818797	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:159818797G>A	ENST00000497452.1	-	0	517																											AGACAAAAACGATCATGACAA	0.488000													18	120					0	0	0.006122	0	0
TMEM209	84928	broad.mit.edu	37	7	129832510	129832510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:129832510C>T	ENST00000397622.2	-	6	849	c.727G>A	c.(727-729)Gat>Aat	p.D243N	RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000473456.1_Missense_Mutation_p.D243N|TMEM209_ENST00000336804.8_Missense_Mutation_p.D242N|TMEM209_ENST00000462753.1_Missense_Mutation_p.D242N	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	243						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					AGAAAAGTATCCAAAGTTCGT	0.408000													15	30					0	0	0.002450	0	0
C19orf35	374872	broad.mit.edu	37	19	2276335	2276335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:2276335C>T	ENST00000342063.3	-	4	859	c.766G>A	c.(766-768)Gag>Aag	p.E256K		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	256										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGGAACCTCGGCTGCCAGC	0.701000													3	8					0	0	0.004672	0	0
SLC30A10	55532	broad.mit.edu	37	1	220089206	220089206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:220089206G>A	ENST00000366926.3	-	4	1204	c.1043C>T	c.(1042-1044)aCc>aTc	p.T348I	SLC30A10_ENST00000536446.1_Missense_Mutation_p.T103I|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	348					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GATGTGCAGGGTGGCAATAAT	0.448000													13	79					0	0	0.001855	0	0
ZNF883	169834	broad.mit.edu	37	9	115760022	115760022	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:115760022C>T	ENST00000427548.1	-	0	1791							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AGAATGAATTCCCTGATGTTC	0.408000													4	58					0	0	0.001168	0	0
CHD7	55636	broad.mit.edu	37	8	61765994	61765994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:61765994C>T	ENST00000423902.2	+	31	7189	c.6710C>T	c.(6709-6711)tCc>tTc	p.S2237F	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2237	Glu-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAGAAAGGTTCCGAAGAGGAT	0.522000													6	35					0	0	0.004482	0	0
THNSL1	79896	broad.mit.edu	37	10	25314037	25314037	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:25314037A>C	ENST00000524413.1	+	3	2232	c.1885A>C	c.(1885-1887)Aac>Cac	p.N629H	THNSL1_ENST00000376356.4_Missense_Mutation_p.N629H			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	629					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	AGCAGCTATTAACTCCACCTA	0.433000													11	50					0	0	0.000978	0	0
KREMEN1	83999	broad.mit.edu	37	22	29533538	29533538	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:29533538C>T	ENST00000400338.2	+	6	893	c.840C>T	c.(838-840)gtC>gtT	p.V280V	KREMEN1_ENST00000400335.4_Silent_p.V280V|KREMEN1_ENST00000327813.5_Silent_p.V280V|KREMEN1_ENST00000407188.1_Silent_p.V278V			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	278	CUB.				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CCCACCGTGTCCTAGCCCGCT	0.587000													14	27					0	0	0.002450	0	0
DDX60L	91351	broad.mit.edu	37	4	169300899	169300899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:169300899G>A	ENST00000511577.1	-	31	4446	c.4199C>T	c.(4198-4200)tCc>tTc	p.S1400F	DDX60L_ENST00000260184.7_Missense_Mutation_p.S1400F			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1400							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GAGCTGCAAGGAAAACAAAAA	0.368000													11	23					0	0	0.008291	0	0
CACNA1D	776	broad.mit.edu	37	3	53736765	53736765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:53736765G>A	ENST00000288139.3	+	9	1436	c.1318G>A	c.(1318-1320)Gat>Aat	p.D440N	CACNA1D_ENST00000350061.5_Missense_Mutation_p.D440N|CACNA1D_ENST00000422281.2_Missense_Mutation_p.D440N	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	440	Binding to the beta subunit (By similarity).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GGGCTACTTGGATTGGATCAC	0.517000													4	21					0	0	0.000248	0	0
CA6	765	broad.mit.edu	37	1	9034706	9034706	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:9034706G>A	ENST00000377443.2	+	8	874	c.870G>A	c.(868-870)caG>caA	p.Q290Q	CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Silent_p.Q230Q	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	290					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAATTCCAGTTTTACCTAC	0.388000													5	18					0	0	0.003080	0	0
SLC35B4	84912	broad.mit.edu	37	7	133994124	133994124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:133994124G>A	ENST00000378509.4	-	2	484	c.185C>T	c.(184-186)cCa>cTa	p.P62L		NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	62						Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						ATACCTTATTGGGATAGCTGG	0.378000													4	7					0	0	0.000248	0	0
BRPF3	27154	broad.mit.edu	37	6	36178189	36178189	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:36178189C>T	ENST00000357641.6	+	6	2316	c.2063C>T	c.(2062-2064)gCc>gTc	p.A688V	BRPF3_ENST00000534400.1_Missense_Mutation_p.A688V|BRPF3_ENST00000443324.2_Missense_Mutation_p.A688V|BRPF3_ENST00000543502.1_Missense_Mutation_p.A688V|BRPF3_ENST00000534694.1_Missense_Mutation_p.A688V|BRPF3_ENST00000339717.7_Missense_Mutation_p.A688V	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	688					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CTGGGAGGGGCCATCCTACGG	0.562000													9	71					0	0	0.000978	0	0
SPINK13	153218	broad.mit.edu	37	5	147665576	147665576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:147665576C>T	ENST00000512953.1	+	6	781	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C	RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000398450.4_Missense_Mutation_p.R84C|SPINK13_ENST00000511106.1_Missense_Mutation_p.R44C			Q1W4C9	ISK13_HUMAN	serine peptidase inhibitor, Kazal type 13 (putative)	84	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			breast(2)|lung(3)	5						ATTTCATTATCGTATAAAATT	0.269000													5	44					0	0	0.000602	0	0
CR2	1380	broad.mit.edu	37	1	207644832	207644832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:207644832C>T	ENST00000367057.3	+	9	1747	c.1558C>T	c.(1558-1560)Cgt>Tgt	p.R520C	CR2_ENST00000458541.2_Intron|CR2_ENST00000367058.3_Missense_Mutation_p.R520C|CR2_ENST00000367059.3_Missense_Mutation_p.R520C	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	520	Sushi 8.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TATGGAGATTCGTCTTTGTAA	0.383000													13	61					0	0	0.003163	0	0
TPM2	7169	broad.mit.edu	37	9	35685461	35685461	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:35685461G>A	ENST00000378292.3	-	4	1664	c.462C>T	c.(460-462)atC>atT	p.I154I	TPM2_ENST00000360958.2_Silent_p.I154I|TPM2_ENST00000329305.2_Silent_p.I154I|TPM2_ENST00000378300.5_Silent_p.I154I	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	154					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AATCCTCAGCGATGTGCTTGG	0.552000													15	69					0	0	0.004007	0	0
CDAN1	146059	broad.mit.edu	37	15	43019897	43019897	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:43019897G>A	ENST00000356231.3	-	23	3041	c.3018C>T	c.(3016-3018)gcC>gcT	p.A1006A		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	1006						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GCTCCCCCCGGGCAGCAGGTT	0.627000													6	23					0	0	0.001168	0	0
IQGAP3	128239	broad.mit.edu	37	1	156518436	156518436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:156518436G>A	ENST00000361170.2	-	17	1940	c.1930C>T	c.(1930-1932)Ccc>Tcc	p.P644S		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	644					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCACAGTCGGGAACTACCCCT	0.607000													6	68					0	0	0.001984	0	0
IL10RA	3587	broad.mit.edu	37	11	117859150	117859150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:117859150C>T	ENST00000227752.3	+	2	241	c.121C>T	c.(121-123)Cac>Tac	p.H41Y	IL10RA_ENST00000541785.1_Missense_Mutation_p.H21Y|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_5'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	41						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ATTTTTCCACCACATCCTCCA	0.577000													11	50					0	0	0.001855	0	0
RBPMS2	348093	broad.mit.edu	37	15	65043767	65043767	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:65043767G>A	ENST00000300069.4	-	2	425	c.158C>T	c.(157-159)cCg>cTg	p.P53L	RBPMS2_ENST00000560606.1_5'UTR	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	53	RRM.						nucleic acid binding|nucleotide binding			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						CACCTTGAACGGCCGGAAGAG	0.612000													7	82					0	0	0.003080	0	0
GBE1	2632	broad.mit.edu	37	3	81635304	81635304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:81635304G>A	ENST00000429644.2	-	10	1917	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	GBE1_ENST00000489715.1_Missense_Mutation_p.S384F	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	425					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CCCTCCCTGGGAAATTGGAGA	0.403000									Glycogen Storage Disease, type IV				14	52					0	0	0.003163	0	0
LIMCH1	22998	broad.mit.edu	37	4	41652477	41652477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:41652477C>T	ENST00000313860.7	+	13	1787	c.1733C>T	c.(1732-1734)cCc>cTc	p.P578L	LIMCH1_ENST00000514096.1_Missense_Mutation_p.P419L|LIMCH1_ENST00000512820.1_Missense_Mutation_p.P566L|LIMCH1_ENST00000503057.1_Missense_Mutation_p.P963L|LIMCH1_ENST00000509277.1_Missense_Mutation_p.P412L|LIMCH1_ENST00000512632.1_Missense_Mutation_p.P578L|LIMCH1_ENST00000512946.1_Missense_Mutation_p.P578L|LIMCH1_ENST00000513024.1_Missense_Mutation_p.P407L|LIMCH1_ENST00000381753.4_Missense_Mutation_p.P412L|LIMCH1_ENST00000508501.1_Missense_Mutation_p.P578L|LIMCH1_ENST00000396595.3_Missense_Mutation_p.P424L|LIMCH1_ENST00000511496.1_Missense_Mutation_p.P419L	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	578					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AGAGAGTGTCCCACGGTGGCA	0.498000													10	19					0	0	0.008291	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73944175	73944175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:73944175C>T	ENST00000476977.1	+	9	2893	c.1202C>T	c.(1201-1203)cCc>cTc	p.P401L	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.P401L|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.P433L|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.P401L			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	401						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTCAAGCGCCCCTGCACTTAT	0.622000													5	42					0	0	0.001984	0	0
CABIN1	23523	broad.mit.edu	37	22	24451468	24451468	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:24451468C>T	ENST00000398319.2	+	9	1324	c.939C>T	c.(937-939)tcC>tcT	p.S313S	CABIN1_ENST00000263119.5_Silent_p.S313S|CABIN1_ENST00000405822.2_Silent_p.S263S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	313					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTGAGTCCTCCATGGTGGTGA	0.577000													9	61					0	0	0.006214	0	0
OR13D1	286365	broad.mit.edu	37	9	107457422	107457422	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:107457422G>A	ENST00000318763.5	+	1	763	c.720G>A	c.(718-720)gtG>gtA	p.V240V		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TTTCACTGGTGATTCTTCTAC	0.353000													5	61					0	0	0.000602	0	0
MMP9	4318	broad.mit.edu	37	20	44637642	44637642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:44637642C>T	ENST00000372330.3	+	1	96	c.77C>T	c.(76-78)tCc>tTc	p.S26F		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	26					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CAGCGCCAGTCCACCCTTGTG	0.627000													4	17					0	0	0.000602	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143784	142143784	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:142143784G>A	ENST00000390373.2	-	0	211																											AGTGAGAGCAGCAGCAACTGA	0.498000													10	65					0	0	0.001855	0	0
NLRP10	338322	broad.mit.edu	37	11	7981498	7981498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:7981498G>A	ENST00000328600.2	-	2	1822	c.1661C>T	c.(1660-1662)tCt>tTt	p.S554F		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	554							ATP binding	p.S554Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGCTTCATAGATTCCATCTG	0.388000													12	35					0	0	0.001855	0	0
RP1	6101	broad.mit.edu	37	8	55538837	55538837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:55538837G>A	ENST00000220676.1	+	4	2543	c.2395G>A	c.(2395-2397)Gat>Aat	p.D799N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	799					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CGGTCAAAGAGATAAAGTGTT	0.294000													9	45					0	0	0.006214	0	0
CYLC1	1538	broad.mit.edu	37	X	83126513	83126513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:83126513C>T	ENST00000329312.4	+	3	149	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	38					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TTTGACATTTCCCAAACCACT	0.299000													4	14					0	0	0.000602	0	0
PCDH20	64881	broad.mit.edu	37	13	61986932	61986932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:61986932C>T	ENST00000409186.1	-	5	3405	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	PCDH20_ENST00000409204.4_Missense_Mutation_p.E434K			Q8N6Y1	PCD20_HUMAN	protocadherin 20	407	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E434*(1)|p.E407*(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CCATCTATCTCGTTTGCTATG	0.418000													6	73					0	0	0.001168	0	0
CHST4	10164	broad.mit.edu	37	16	71571469	71571469	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:71571469G>A	ENST00000338482.5	+	3	1232	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	CHST4_ENST00000572450.1_Missense_Mutation_p.E297K|RP11-510M2.9_ENST00000572693.1_RNA|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.E297K			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	297					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CGTGGGATTGGAATTCTTGCC	0.567000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	16					0	0	0.000602	0	0
GNAL	2774	broad.mit.edu	37	18	11872339	11872339	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:11872339G>A	ENST00000334049.6	+	10	1712	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	GNAL_ENST00000423027.3_Silent_p.G291G|GNAL_ENST00000269162.5_Silent_p.G291G|GNAL_ENST00000602628.1_Silent_p.G84G|GNAL_ENST00000535980.1_3'UTR|GNAL_ENST00000535121.1_Silent_p.G291G	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	291					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TCTTGGCAGGGAAATCAAAAA	0.323000													6	71					0	0	0.001168	0	0
ZFPL1	7542	broad.mit.edu	37	11	64853986	64853986	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:64853986T>C	ENST00000294258.3	+	4	466	c.314T>C	c.(313-315)tTc>tCc	p.F105S		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	105					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						GGCCCCATCTTCCCCCCAACC	0.647000													20	66					0	0	0.007413	0	0
CACNA1B	774	broad.mit.edu	37	9	140968471	140968471	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:140968471C>T	ENST00000277549.5	+	34	4961	c.2392C>T	c.(2392-2394)Ctg>Ttg	p.L798L	CACNA1B_ENST00000371372.1_Silent_p.L1604L|CACNA1B_ENST00000371355.4_Silent_p.L1605L|CACNA1B_ENST00000371357.1_Silent_p.L1603L|CACNA1B_ENST00000277551.2_Silent_p.L1604L|CACNA1B_ENST00000371363.1_Silent_p.L1602L			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1604					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTACGTGTGTCTGCTCATTGC	0.652000													7	70					0	0	0.008291	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858356	9858356	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:9858356C>T	ENST00000396573.2	-	14	3354	c.3045G>A	c.(3043-3045)aaG>aaA	p.K1015K	GRIN2A_ENST00000562109.1_Silent_p.K1015K|GRIN2A_ENST00000396575.2_Silent_p.K1015K|GRIN2A_ENST00000330684.3_Silent_p.K1015K|GRIN2A_ENST00000404927.2_Silent_p.K1015K|GRIN2A_ENST00000535259.1_Silent_p.K858K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1015					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCACGGATTTCTTCCACAGCT	0.532000													5	83					0	0	0.000602	0	0
NBPF10	100132406	broad.mit.edu	37	1	145301742	145301742	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:145301742C>T	ENST00000342960.5	+	7	1046	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L66L|NBPF10_ENST00000369339.2_Silent_p.L66L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	337										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCAAAGACCTCATAAAATTTA	0.522000													38	312					0	0	0.003610	0	0
KCNK5	8645	broad.mit.edu	37	6	39159209	39159209	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:39159209C>T	ENST00000359534.3	-	5	1295	c.957G>A	c.(955-957)ggG>ggA	p.G319G		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	319					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GGCCCGTCTCCCCACCCCCGC	0.617000													9	83					0	0	0.000978	0	0
SCN11A	11280	broad.mit.edu	37	3	38888526	38888526	+	Missense_Mutation	SNP	G	G	A	rs143537709		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:38888526G>A	ENST00000302328.3	-	26	5233	c.5035C>T	c.(5035-5037)Cgc>Tgc	p.R1679C	SCN11A_ENST00000450244.1_Missense_Mutation_p.R1679C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R1641C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1679					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1679C(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAGTGGAGGCGATCTTCACTC	0.463000													5	52					0	0	0.000602	0	0
FERMT1	55612	broad.mit.edu	37	20	6069691	6069691	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:6069691G>A	ENST00000217289.4	-	10	1973	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	FERMT1_ENST00000536936.1_Silent_p.I138I|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	395	FERM.|PH.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TGTCTTTAAAGATAAACCAAT	0.348000													6	34					0	0	0.001984	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33616044	33616044	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:33616044G>A	ENST00000504830.1	-	15	2612	c.2277C>T	c.(2275-2277)atC>atT	p.I759I	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.I674I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	759	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CGTTCCACTGGATAATAAACC	0.473000										HNSCC(64;0.19)			5	63					0	0	0.000602	0	0
HNRNPL	3191	broad.mit.edu	37	19	39338074	39338074	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:39338074C>T	ENST00000221419.5	-	2	634	c.267_splice	c.e2-1	p.E90_splice	HNRNPL_ENST00000600873.1_5'UTR	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	90					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TCGTAGTTCTCCTGAGAAAGG	0.507000													8	38					0	0	0.006214	0	0
MKKS	8195	broad.mit.edu	37	20	10394146	10394146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:10394146G>A	ENST00000347364.2	-	3	779	c.17C>T	c.(16-18)gCt>gTt	p.A6V		NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	6					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TGGCTTCTTAGCTTCCAAACG	0.378000													10	67					0	0	0.001368	0	0
LRRC27	80313	broad.mit.edu	37	10	134158054	134158054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:134158054C>T	ENST00000356571.4	+	4	506	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S	LRRC27_ENST00000344079.5_Silent_p.F151F|LRRC27_ENST00000368612.1_Silent_p.F89F|LRRC27_ENST00000368614.3_Silent_p.F151F|LRRC27_ENST00000392638.2_Silent_p.F151F|LRRC27_ENST00000368613.4_Silent_p.F151F|LRRC27_ENST00000432555.2_Silent_p.F24F|LRRC27_ENST00000368615.3_Silent_p.F151F|LRRC27_ENST00000368610.3_Silent_p.F89F			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	0										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CTCTGGAATTCCCTCCTCAGC	0.502000													12	55					0	0	0.003163	0	0
DNAJC11	55735	broad.mit.edu	37	1	6705993	6705993	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:6705993G>A	ENST00000377577.5	-	8	873	c.750C>T	c.(748-750)atC>atT	p.I250I	DNAJC11_ENST00000294401.7_Silent_p.I250I|DNAJC11_ENST00000349363.6_Silent_p.I212I|DNAJC11_ENST00000542246.1_Silent_p.I212I|DNAJC11_ENST00000377573.5_Silent_p.I160I	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	250					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCGGGTCGGATTCCACGGG	0.542000													19	81					0	0	0.001523	0	0
NRAP	4892	broad.mit.edu	37	10	115370256	115370256	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:115370256T>C	ENST00000369358.4	-	31	3833	c.3589A>G	c.(3589-3591)Att>Gtt	p.I1197V	NRAP_ENST00000369360.3_Missense_Mutation_p.I1162V|NRAP_ENST00000360478.3_Missense_Mutation_p.I1154V|NRAP_ENST00000359988.3_Missense_Mutation_p.I1189V			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1189						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTCCCTTCAATCTCTAACGTG	0.418000													8	39					0	0	0.006214	0	0
C10orf2	56652	broad.mit.edu	37	10	102748840	102748840	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:102748840C>T	ENST00000370228.1	+	1	1058	c.873C>T	c.(871-873)ccC>ccT	p.P291P	C10orf2_ENST00000473656.1_Intron|C10orf2_ENST00000311916.2_Silent_p.P291P	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	291					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCTGCTTACCCCCTGCCTTAC	0.577000													11	120					0	0	0.001855	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017381	93017381	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:93017381C>T	ENST00000523629.1	-	6	1157	c.703G>A	c.(703-705)Gat>Aat	p.D235N	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D235N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D246N|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D198N|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D198N|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D208N|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.D198N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D198N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D208N	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	235					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCGTTCACATCGAGAAGCAGC	0.552000													7	69					0	0	0.001984	0	0
PEX16	9409	broad.mit.edu	37	11	45932504	45932504	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:45932504G>A	ENST00000532681.1	-	10	1475	c.612C>T	c.(610-612)atC>atT	p.I204I	PEX16_ENST00000378750.5_Silent_p.I299I|PEX16_ENST00000241041.3_Silent_p.I299I			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	299					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		GCAGGAAGAGGATCCTGGCCC	0.632000													17	49					0	0	0.008871	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125824611	125824611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:125824611G>A	ENST00000393434.2	-	22	2960	c.2611C>T	c.(2611-2613)Ccc>Tcc	p.P871S	ALDH1L1_ENST00000452905.2_Missense_Mutation_p.P770S|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.P871S|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.P881S|ALDH1L1_ENST00000393431.2_3'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	871	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCTCCGAAGGGAGCGGCCACG	0.488000													12	96					0	0	0.003163	0	0
PDE9A	5152	broad.mit.edu	37	21	44171237	44171237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:44171237C>T	ENST00000291539.6	+	9	725	c.665C>T	c.(664-666)cCc>cTc	p.P222L	PDE9A_ENST00000349112.3_Missense_Mutation_p.P94L|PDE9A_ENST00000335440.6_Missense_Mutation_p.P120L|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398236.3_Missense_Mutation_p.P136L|PDE9A_ENST00000335512.4_Missense_Mutation_p.P162L|PDE9A_ENST00000398225.3_Missense_Mutation_p.P181L|PDE9A_ENST00000328862.6_Missense_Mutation_p.P196L|PDE9A_ENST00000398229.3_Missense_Mutation_p.P88L|PDE9A_ENST00000539837.1_Missense_Mutation_p.P94L|PDE9A_ENST00000398232.3_Missense_Mutation_p.P155L|PDE9A_ENST00000380328.2_Missense_Mutation_p.P169L|PDE9A_ENST00000398224.3_Missense_Mutation_p.P95L|PDE9A_ENST00000398234.3_Missense_Mutation_p.P121L|PDE9A_ENST00000398227.3_Missense_Mutation_p.P62L	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	222					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						ACCAACTGCCCCTGTAAGTAC	0.507000													10	207					0	0	0.000978	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159820172	159820172	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:159820172G>A	ENST00000497452.1	-	0	517																											ACTCAAGACAGGCTCATAGCG	0.428000													18	161					0	0	0.007413	0	0
CGNL1	84952	broad.mit.edu	37	15	57730408	57730408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:57730408G>A	ENST00000281282.5	+	2	289	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	71	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ATCGTTTTCTGAAAATGGGCC	0.488000													17	49					0	0	0.008871	0	0
FUT5	2527	broad.mit.edu	37	19	5867295	5867295	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:5867295A>G	ENST00000252675.5	-	5	1004	c.442T>C	c.(442-444)Ttc>Ctc	p.F148L	FUT5_ENST00000588525.1_Missense_Mutation_p.F148L			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	148					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TCCATGCTGAACCAGATCCAG	0.627000													11	45					0	0	0.008291	0	0
LAYN	143903	broad.mit.edu	37	11	111414911	111414911	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:111414911T>C	ENST00000375614.2	+	2	685	c.349T>C	c.(349-351)Tat>Cat	p.Y117H	LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000533265.1_Missense_Mutation_p.Y117H|LAYN_ENST00000436913.2_Silent_p.F24F|LAYN_ENST00000375615.3_Missense_Mutation_p.Y125H|LAYN_ENST00000525126.1_Missense_Mutation_p.Y125H	NM_178834.4	NP_849156.1	Q6UX15	LAYN_HUMAN	layilin	125	C-type lectin.					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		CCAGGACCTTTATGCTTGGAC	0.473000													9	18					0	0	0.006214	0	0
ATRX	546	broad.mit.edu	37	X	76939723	76939723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:76939723G>A	ENST00000373344.5	-	9	1239	c.1025C>T	c.(1024-1026)tCt>tTt	p.S342F	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S304F	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	342					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGCGGAATAAGAGTAGGTTAC	0.348000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						17	23					0	0	0.004007	0	0
INSRR	3645	broad.mit.edu	37	1	156812213	156812213	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:156812213G>A	ENST00000368195.3	-	18	3610	c.3214C>T	c.(3214-3216)Cga>Tga	p.R1072*	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1072	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGCAAAGATCGAAGATGGCTC	0.592000													9	66					0	0	0.008291	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829338	146829338	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:146829338G>A	ENST00000361727.3	+	8	1601	c.1083_splice	c.e8-1	p.G362_splice		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	362	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.G362E(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTTTACAGGGAAATTTGAGC	0.433000										HNSCC(39;0.1)			8	82					0	0	0.006214	0	0
PUF60	22827	broad.mit.edu	37	8	144900174	144900174	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:144900174G>A	ENST00000526683.1	-	8	1230	c.675C>T	c.(673-675)ttC>ttT	p.F225F	PUF60_ENST00000456095.2_Silent_p.F196F|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000453551.2_Silent_p.F182F|PUF60_ENST00000313352.7_Silent_p.F165F|PUF60_ENST00000527197.1_Silent_p.F179F|PUF60_ENST00000349157.6_Silent_p.F208F	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	225	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGATGCGGTTGAAGGCCCGTG	0.592000													7	20					0	0	0.003080	0	0
SMG7	9887	broad.mit.edu	37	1	183515121	183515121	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:183515121C>T	ENST00000367537.3	+	18	2535	c.2340C>T	c.(2338-2340)tcC>tcT	p.S780S	SMG7_ENST00000508461.1_Silent_p.S755S|SMG7_ENST00000507469.1_Silent_p.S751S|SMG7_ENST00000515829.2_Silent_p.S751S|SMG7_ENST00000347615.2_Silent_p.S797S|SMG7_ENST00000456731.2_Silent_p.S709S			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	797	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CAGATGCCTCCAAACAGCTGT	0.418000													6	60					0	0	0.001168	0	0
F9	2158	broad.mit.edu	37	X	138633289	138633289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:138633289C>T	ENST00000218099.2	+	6	596	c.589C>T	c.(589-591)Cct>Tct	p.P197S	F9_ENST00000394090.2_Missense_Mutation_p.P159S	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	197					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GACTGTTTTTCCTGATGTGGA	0.388000													7	33					0	0	0.003080	0	0
MBD6	114785	broad.mit.edu	37	12	57919277	57919277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:57919277C>T	ENST00000355673.3	+	6	882	c.526C>T	c.(526-528)Ccc>Tcc	p.P176S	MBD6_ENST00000431731.2_Missense_Mutation_p.P176S	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	176	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCAGGCCTTTCCCACTCTAGC	0.642000													5	58					0	0	0.000602	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64601692	64601692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:64601692C>T	ENST00000498707.1	-	20	3310	c.2968G>A	c.(2968-2970)Gaa>Aaa	p.E990K	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.E962K	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	990	TSP type-1 3.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GAGCATTTTTCACGGTTGCTT	0.488000													33	381					0	0	0.003755	0	0
C12orf43	64897	broad.mit.edu	37	12	121442889	121442889	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:121442889G>A	ENST00000445832.3	-	5	381	c.279C>T	c.(277-279)cgC>cgT	p.R93R	C12orf43_ENST00000537817.1_Silent_p.R124R|C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000366211.2_Silent_p.R81R|C12orf43_ENST00000288757.3_Silent_p.R123R|C12orf43_ENST00000539736.1_Intron			Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	123										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					tgaagaaaaggcggaaaccta	0.418000													15	186					0	0	0.004007	0	0
MYO5C	55930	broad.mit.edu	37	15	52534250	52534250	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:52534250G>A	ENST00000261839.7	-	20	2712	c.2551C>T	c.(2551-2553)Cga>Tga	p.R851*	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	851	IQ 4.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CTCACCTTTCGATACCTCCTC	0.552000													16	129					0	0	0.004007	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561707	145561707	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:145561707G>T	ENST00000355594.4	+	10	1482	c.1395G>T	c.(1393-1395)aaG>aaT	p.K465N		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	465										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGGTCAGAAGGAGAGTTCCC	0.567000													8	72					1.06961e-07	1.21267e-07	0.003080	1	0
ASTN1	460	broad.mit.edu	37	1	176903371	176903371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:176903371C>T	ENST00000367654.2	-	16	2625	c.2612G>A	c.(2611-2613)gGc>gAc	p.G871D	ASTN1_ENST00000424564.2_Missense_Mutation_p.G863D|ASTN1_ENST00000361833.2_Missense_Mutation_p.G863D|ASTN1_ENST00000367657.3_Missense_Mutation_p.G863D			O14525	ASTN1_HUMAN	astrotactin 1	871					cell migration|neuron cell-cell adhesion	integral to membrane		p.G863A(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTCCTCAAAGCCGTAGATAGC	0.522000													6	47					0	0	0.001168	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60241435	60241435	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:60241435C>T	ENST00000269499.5	+	13	2539	c.2121C>T	c.(2119-2121)ccC>ccT	p.P707P	ZCCHC2_ENST00000586834.1_Silent_p.P386P	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	707					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TAGAAGATCCCTTAAACTCAC	0.438000													19	94					0	0	0.002299	0	0
SYNE1	23345	broad.mit.edu	37	6	152708227	152708227	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:152708227C>T	ENST00000367255.5	-	54	9068	c.8467G>A	c.(8467-8469)Gat>Aat	p.D2823N	SYNE1_ENST00000341594.5_Missense_Mutation_p.D2862N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D2823N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D2830N|SYNE1_ENST00000448038.1_Missense_Mutation_p.D2830N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2823					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTCATTATATCATTAAACTGT	0.343000										HNSCC(10;0.0054)			4	48					0	0	0.001168	0	0
DLK1	8788	broad.mit.edu	37	14	101200880	101200880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:101200880C>T	ENST00000341267.4	+	5	1041	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	267					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GCTGGCCTACCGCCTGACCCC	0.637000													5	33					0	0	0.000602	0	0
USP31	57478	broad.mit.edu	37	16	23096193	23096193	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:23096193G>A	ENST00000219689.7	-	11	1817	c.1818C>T	c.(1816-1818)acC>acT	p.T606T		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	606					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GCTCCTCTTTGGTGTACAGTT	0.512000													22	196					0	0	0.001882	0	0
HDAC9	9734	broad.mit.edu	37	7	18688097	18688097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:18688097C>T	ENST00000406451.3	+	11	1399	c.1249C>T	c.(1249-1251)Ccc>Tcc	p.P417S	HDAC9_ENST00000417496.2_Missense_Mutation_p.P415S|HDAC9_ENST00000405010.3_Missense_Mutation_p.P417S|HDAC9_ENST00000524023.1_Missense_Mutation_p.P340S|HDAC9_ENST00000428307.2_Missense_Mutation_p.P373S|HDAC9_ENST00000441542.2_Missense_Mutation_p.P420S|HDAC9_ENST00000456174.2_Missense_Mutation_p.P389S|HDAC9_ENST00000401921.1_Missense_Mutation_p.P376S|HDAC9_ENST00000406072.1_Missense_Mutation_p.P404S|HDAC9_ENST00000432645.2_Missense_Mutation_p.P417S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	417					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGGTGGAGTTCCCTTACATCC	0.428000													14	41					0	0	0.002450	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72954753	72954753	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:72954753G>A	ENST00000421285.3	+	11	1008	c.1008G>A	c.(1006-1008)aaG>aaA	p.K336K		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	336										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						AGGAACAAAAGCAGAGACTCC	0.562000													23	294					0	0	0.002780	0	0
ECT2L	345930	broad.mit.edu	37	6	139186178	139186178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:139186178C>T	ENST00000423192.1	+	11	1498	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000367682.2_Missense_Mutation_p.S446F|ECT2L_ENST00000541398.1_Missense_Mutation_p.S377F			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	446					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						GCCCCCTCTTCCATCTACTTC	0.448000			"""N, Splice, Mis"""		ETP ALL								4	43					0	0	0.000248	0	0
NLRP4	147945	broad.mit.edu	37	19	56369483	56369483	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:56369483G>A	ENST00000301295.6	+	3	1146	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	NLRP4_ENST00000346986.5_Missense_Mutation_p.E242K|NLRP4_ENST00000587891.1_Missense_Mutation_p.E167K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	242	NACHT.						ATP binding	p.E242K(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CGGCTTGAACGAACCCGATTC	0.572000													10	60					0	0	0.006214	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110413730	110413730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:110413730G>A	ENST00000378402.5	+	14	1390	c.1286G>A	c.(1285-1287)aGg>aAg	p.R429K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	429					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GATTAGGTGAGGATTGCATAT	0.323000										HNSCC(38;0.096)			16	17					0	0	0.001882	0	0
AMPD1	270	broad.mit.edu	37	1	115238086	115238086	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:115238086G>A	ENST00000369538.3	-	1	153	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	AMPD1_ENST00000353928.6_Silent_p.L3L|AMPD1_ENST00000520113.2_Silent_p.L36L	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	3					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AGTTTGAACAGAGGCATTGTT	0.398000													12	150					0	0	0.002450	0	0
LAMB2	3913	broad.mit.edu	37	3	49159721	49159721	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:49159721G>A	ENST00000418109.1	-	29	4820	c.4656C>T	c.(4654-4656)atC>atT	p.I1552I	LAMB2_ENST00000305544.4_Silent_p.I1552I	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1552	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCAGGTGCTGGATCTGCTCAG	0.597000													4	53					0	0	0.000248	0	0
OR11G2	390439	broad.mit.edu	37	14	20666407	20666407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:20666407G>A	ENST00000357366.3	+	1	913	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		atctaagaatgaagctggaaa	0.453000													14	83					0	0	0.001855	0	0
ACAD10	80724	broad.mit.edu	37	12	112150336	112150336	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:112150336A>G	ENST00000455480.2	+	7	995	c.818A>G	c.(817-819)gAa>gGa	p.E273G	ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.E242G|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.E242G	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	242							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AAGGAATTAGAAGCTCTCTTG	0.388000													28	81					0	0	0.001786	0	0
TNR	7143	broad.mit.edu	37	1	175355315	175355315	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:175355315C>T	ENST00000367674.1	-	8	2338	c.1630G>A	c.(1630-1632)Gaa>Aaa	p.E544K	TNR_ENST00000263525.2_Missense_Mutation_p.E544K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	544	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTCCCACCTTCCCCGCCCACC	0.597000													9	18					0	0	0.004482	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75550009	75550009	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:75550009G>C	ENST00000604729.1	+	7	1197	c.900G>C	c.(898-900)aaG>aaC	p.K300N	ZSWIM8_ENST00000603114.1_Missense_Mutation_p.K300N|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.K300N|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.K300N|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.K300N					zinc finger, SWIM-type containing 8																		ACATCAAAAAGACACTGCACA	0.552000													10	89					0	0	0.006214	0	0
CCDC69	26112	broad.mit.edu	37	5	150578573	150578573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:150578573C>T	ENST00000355417.2	-	4	478	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	102										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGGCCTCTTCATTCTTTCCT	0.597000													9	59					0	0	0.006214	0	0
PLG	5340	broad.mit.edu	37	6	161134069	161134069	+	Silent	SNP	G	G	A	rs144153702	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:161134069G>A	ENST00000308192.9	+	5	522	c.459G>A	c.(457-459)agG>agA	p.R153R	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	153	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACTACTGCAGGAATCCAGACA	0.483000													9	79					0	0	0.004482	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532106	84532106	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:84532106C>T	ENST00000527857.1	+	0	2128					NR_026851.1																						GAAAGAGGCTCATCCAGCGCA	0.488000													5	21					0	0	0.001984	0	0
MRFAP1	93621	broad.mit.edu	37	4	6642900	6642900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:6642900C>T	ENST00000320912.4	+	2	964	c.311C>T	c.(310-312)gCc>gTc	p.A104V	MRFAP1_ENST00000382581.4_Missense_Mutation_p.A104V|MRFAP1_ENST00000507420.1_Missense_Mutation_p.A104V	NM_001272053.1	NP_001258982.1	Q9Y605	MOFA1_HUMAN	Morf4 family associated protein 1	104						nucleus|perinuclear region of cytoplasm	protein binding			lung(1)	1						GAGGAGAAGGCCAAGGAGATT	0.682000													6	53					0	0	0.004482	0	0
C1orf173	127254	broad.mit.edu	37	1	75038412	75038412	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:75038412C>T	ENST00000326665.5	-	14	3200	c.2982G>A	c.(2980-2982)ttG>ttA	p.L994L	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	994	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGAAGGGGCTCAAGCGTGTTT	0.532000													11	44					0	0	0.008291	0	0
FAM151A	338094	broad.mit.edu	37	1	55088965	55088965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:55088965G>A	ENST00000302250.2	-	1	264	c.104C>T	c.(103-105)aCc>aTc	p.T35I	FAM151A_ENST00000371304.2_Missense_Mutation_p.T35I|RP11-240D10.4_ENST00000416119.1_RNA|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	35						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCGCCGCAGGGTGATGGCAAG	0.562000													8	50					0	0	0.003080	0	0
UBE2V2	7336	broad.mit.edu	37	8	48955640	48955640	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:48955640G>T	ENST00000523111.2	+	2	119	c.64G>T	c.(64-66)Gga>Tga	p.G22*	UBE2V2_ENST00000520809.1_5'UTR|UBE2V2_ENST00000521346.1_5'UTR|UBE2V2_ENST00000517630.1_5'UTR	NM_003350.2	NP_003341.1	Q15819	UB2V2_HUMAN	ubiquitin-conjugating enzyme E2 variant 2	22					cell proliferation|DNA double-strand break processing|protein polyubiquitination|regulation of DNA repair	cytoplasm|nucleus|UBC13-MMS2 complex	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)	3		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196)				ACTTGAAGAAGGACAAAAAGG	0.403000								Rad6 pathway					6	82					5.18039e-06	5.86232e-06	0.003080	1	0
PHF3	23469	broad.mit.edu	37	6	64395140	64395140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:64395140C>T	ENST00000262043.3	+	4	1857	c.1517C>T	c.(1516-1518)cCg>cTg	p.P506L	PHF3_ENST00000393387.1_Missense_Mutation_p.P506L|PHF3_ENST00000509330.1_Missense_Mutation_p.P506L			Q92576	PHF3_HUMAN	PHD finger protein 3	506					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ACAGATGCTCCGAAGAAAATT	0.343000													4	38					0	0	0.000602	0	0
RBM6	10180	broad.mit.edu	37	3	50102554	50102554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:50102554C>T	ENST00000443081.1	+	16	3200	c.2281C>T	c.(2281-2283)Cct>Tct	p.P761S	RBM6_ENST00000422955.1_Missense_Mutation_p.P371S|RBM6_ENST00000539992.1_Missense_Mutation_p.P235S|RBM6_ENST00000442092.1_Missense_Mutation_p.P371S|RBM6_ENST00000266022.4_Missense_Mutation_p.P893S|RBM6_ENST00000441115.1_3'UTR			P78332	RBM6_HUMAN	RNA binding motif protein 6	893					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGAGAGTCCCCCTCCAGTAAG	0.542000													7	44					0	0	0.001984	0	0
GPR112	139378	broad.mit.edu	37	X	135455070	135455070	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:135455070G>A	ENST00000394143.1	+	15	7914	c.7623G>A	c.(7621-7623)agG>agA	p.R2541R	GPR112_ENST00000412101.1_Silent_p.R2336R|GPR112_ENST00000287534.4_Silent_p.R2339R|GPR112_ENST00000394141.1_Silent_p.R2336R|GPR112_ENST00000370652.1_Silent_p.R2541R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2541					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GAATTCTGAGGATAATTGAGC	0.478000													19	96					0	0	0.006122	0	0
KIAA1737	85457	broad.mit.edu	37	14	77580245	77580245	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:77580245C>T	ENST00000361786.2	+	4	1101	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	KIAA1737	262										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		CTTCGCTTCCCCCGCCAGTCC	0.572000													14	41					0	0	0.001855	0	0
TP63	8626	broad.mit.edu	37	3	189456461	189456461	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:189456461G>A	ENST00000264731.3	+	3	311	c.222G>A	c.(220-222)ttG>ttA	p.L74L	TP63_ENST00000320472.5_Silent_p.L74L|TP63_ENST00000392460.3_Silent_p.L74L|TP63_ENST00000382063.4_Silent_p.L74L|TP63_ENST00000440651.2_Silent_p.L74L|TP63_ENST00000418709.2_Silent_p.L74L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	74	Transcription activation.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L74F(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCATTGACTTGAACTTTGTGG	0.428000										HNSCC(45;0.13)			9	48					0	0	0.000978	0	0
MYO18A	399687	broad.mit.edu	37	17	27419372	27419372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:27419372C>T	ENST00000527372.1	-	34	5356	c.5176G>A	c.(5176-5178)Gcc>Acc	p.A1726T	MYO18A_ENST00000354329.4_Missense_Mutation_p.A1726T|MYO18A_ENST00000531253.1_Missense_Mutation_p.A1726T|MYO18A_ENST00000533112.1_Missense_Mutation_p.A1689T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1726					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCTGTCTTGGCTTTGGCGATG	0.612000													5	20					0	0	0.001168	0	0
OR8B4	283162	broad.mit.edu	37	11	124294000	124294000	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:124294000G>A	ENST00000356130.3	-	1	789	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTAAGTAGGTGAATGTCCCTG	0.458000													5	11					0	0	0.001168	0	0
SPG11	80208	broad.mit.edu	37	15	44867233	44867233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:44867233C>T	ENST00000261866.7	-	31	5889	c.5873G>A	c.(5872-5874)aGt>aAt	p.S1958N	SPG11_ENST00000535302.2_Intron|SPG11_ENST00000427534.2_Missense_Mutation_p.S1958N|SPG11_ENST00000558319.1_Missense_Mutation_p.S1958N	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1958					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACTATCCAGACTTGAAGCTGG	0.498000													8	44					0	0	0.000978	0	0
WDFY2	115825	broad.mit.edu	37	13	52313270	52313270	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:52313270C>T	ENST00000298125.5	+	7	864	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	228							metal ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		TGTGGGACATCGGTGGGAGAA	0.517000													7	49					0	0	0.001984	0	0
RPH3A	22895	broad.mit.edu	37	12	113314656	113314656	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:113314656G>A	ENST00000389385.4	+	13	1653	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.D386N|RPH3A_ENST00000551052.1_Missense_Mutation_p.D382N|RPH3A_ENST00000548866.1_Missense_Mutation_p.D337N|RPH3A_ENST00000543106.2_Missense_Mutation_p.D386N|RPH3A_ENST00000415485.3_Missense_Mutation_p.D386N|RPH3A_ENST00000447659.2_Missense_Mutation_p.D337N	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	386					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CAACAGCTACGATTCGGATGA	0.587000													5	26					0	0	0.001168	0	0
ASNA1	439	broad.mit.edu	37	19	12856529	12856529	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:12856529C>T	ENST00000591090.1	+	5	667	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	ASNA1_ENST00000357332.3_Missense_Mutation_p.R189W			O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	189					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding	p.R189W(1)		endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	GGGCCTGGGCCGGCTTATGCA	0.642000													5	34					0	0	0.000602	0	0
ATG4A	115201	broad.mit.edu	37	X	107381365	107381365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:107381365C>T	ENST00000372232.3	+	9	917	c.758C>T	c.(757-759)tCt>tTt	p.S253F	ATG4A_ENST00000372254.3_Missense_Mutation_p.S229F|ATG4A_ENST00000345734.3_Intron|ATG4A_ENST00000545696.1_Intron	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	253					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						ATGCCACAGTCTTTAGGGGCA	0.453000													17	60					0	0	0.001523	0	0
CDH24	64403	broad.mit.edu	37	14	23522741	23522741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:23522741G>A	ENST00000397359.3	-	7	1449	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	CDH24_ENST00000267383.5_Missense_Mutation_p.S397F|CDH24_ENST00000487137.2_Missense_Mutation_p.S397F|CDH24_ENST00000554034.1_Missense_Mutation_p.S397F	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	397	Cadherin 4.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GTCAGCCGCGGAGATCTGGCC	0.642000													4	31					0	0	0.000248	0	0
PLCB1	23236	broad.mit.edu	37	20	8862357	8862357	+	Missense_Mutation	SNP	G	G	A	rs145966488		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:8862357G>A	ENST00000338037.6	+	32	3539	c.3512G>A	c.(3511-3513)gGa>gAa	p.G1171E	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1171					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCCATGAAAGGAAAGATCAGT	0.512000													11	111					0	0	0.008291	0	0
MARCH11	441061	broad.mit.edu	37	5	16177850	16177850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:16177850C>T	ENST00000332432.8	-	2	877	c.678G>A	c.(676-678)atG>atA	p.M226I	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	226						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						AAGGTTGTTTCATTTTAATGG	0.353000													12	37					0	0	0.002450	0	0
ACKR2	1238	broad.mit.edu	37	3	42906201	42906201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:42906201G>A	ENST00000422265.1	+	3	382	c.207G>A	c.(205-207)atG>atA	p.M69I	ACKR2_ENST00000442925.1_Missense_Mutation_p.M69I|ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.M69I|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		TTCTTCTCATGGTCTTGCTCC	0.532000													8	99					0	0	0.003080	0	0
ARNTL2	56938	broad.mit.edu	37	12	27553489	27553489	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:27553489C>T	ENST00000544915.1	+	9	1059	c.840C>T	c.(838-840)atC>atT	p.I280I	ARNTL2_ENST00000395901.2_Silent_p.I277I|ARNTL2_ENST00000266503.5_Silent_p.I314I|ARNTL2_ENST00000542388.1_Silent_p.I229I|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000261178.5_Silent_p.I266I|ARNTL2_ENST00000546179.1_Silent_p.I277I|ARNTL2_ENST00000311001.5_Silent_p.I300I	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	314					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TCTATACTATCCATTGCACTG	0.313000													4	38					0	0	0.000602	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74874331	74874331	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:74874331G>A	ENST00000331628.3	-	4	871	c.624C>T	c.(622-624)ttC>ttT	p.F208F	SYNDIG1L_ENST00000554823.1_Silent_p.F208F	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	208					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						GTGTGGCTAGGAAGAGGGCCC	0.627000													13	59					0	0	0.003163	0	0
PSG4	5672	broad.mit.edu	37	19	43702411	43702411	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:43702411G>A	ENST00000405312.3	-	3	684	c.447C>T	c.(445-447)ccC>ccT	p.P149P	PSG4_ENST00000244295.9_Silent_p.P149P|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	149	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TGGAGATGGAGGGCTTGGGAG	0.512000													13	46					0	0	0.002450	0	0
SRPX2	27286	broad.mit.edu	37	X	99919867	99919867	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:99919867G>A	ENST00000373004.3	+	5	880	c.452G>A	c.(451-453)aGt>aAt	p.S151N		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	151	Sushi 2.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						AGCTGTTCCAGTGGCTACCAC	0.517000													3	9					0	0	0.004672	0	0
PCED1B	91523	broad.mit.edu	37	12	47629084	47629084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:47629084C>T	ENST00000546455.1	+	4	969	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	PCED1B_ENST00000432328.1_Missense_Mutation_p.R80C					PC-esterase domain containing 1B																		CCGTGAGGTCCGCGAGTTCCG	0.582000													5	58					0	0	0.000602	0	0
WDR64	128025	broad.mit.edu	37	1	241907818	241907818	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:241907818G>A	ENST00000366552.2	+	12	1771	c.1564_splice	c.e12+1	p.G522_splice	WDR64_ENST00000437684.2_Splice_Site_p.G522_splice	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	522										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AGCGTATAATGGTCAGACTAA	0.433000													11	44					0	0	0.001855	0	0
AFM	173	broad.mit.edu	37	4	74354448	74354448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:74354448G>A	ENST00000226355.3	+	7	908	c.815G>A	c.(814-816)gGg>gAg	p.G272E		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	272	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCTGTGAAGGGGATGTTGTG	0.358000													9	80					0	0	0.006214	0	0
TDRD5	163589	broad.mit.edu	37	1	179620077	179620077	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:179620077G>A	ENST00000444136.1	+	12	2126	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	TDRD5_ENST00000367614.1_Missense_Mutation_p.E626K|TDRD5_ENST00000294848.8_Missense_Mutation_p.E626K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	626					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GGTAGTGGATGAATATGTAGA	0.398000													9	77					0	0	0.008291	0	0
OR4X2	119764	broad.mit.edu	37	11	48267270	48267270	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:48267270C>T	ENST00000302329.3	+	1	663	c.615C>T	c.(613-615)gtC>gtT	p.V205V		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GTTTTGGGGTCCTCTTAGCAT	0.527000													13	70					0	0	0.001368	0	0
ATR	545	broad.mit.edu	37	3	142188360	142188360	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:142188360T>C	ENST00000350721.4	-	38	6492	c.6371A>G	c.(6370-6372)aAg>aGg	p.K2124R	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.K2060R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2124	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGTGATAACCTTGTTTATTTT	0.343000								Other conserved DNA damage response genes					8	48					0	0	0.006214	0	0
CYP2E1	1571	broad.mit.edu	37	10	135345137	135345137	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:135345137C>T	ENST00000463117.2	+	5	658	c.386C>T	c.(385-387)tCc>tTc	p.S129F	CYP2E1_ENST00000480558.1_3'UTR|CYP2E1_ENST00000252945.3_Missense_Mutation_p.S129F|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	129					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CGGCGGTTTTCCCTGACCACC	0.527000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				7	77					0	0	0.003080	0	0
MARCH10	162333	broad.mit.edu	37	17	60788599	60788599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:60788599C>T	ENST00000544856.2	-	10	2696	c.2318G>A	c.(2317-2319)aGa>aAa	p.R773K	RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.R774K|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.R774K|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.R812K			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	774							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TACCCTCTCTCTTTCCACCTG	0.527000													5	71					0	0	0.001984	0	0
DICER1	23405	broad.mit.edu	37	14	95590606	95590606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:95590606G>A	ENST00000526495.1	-	10	1594	c.1303C>T	c.(1303-1305)Cct>Tct	p.P435S	DICER1_ENST00000393063.1_Missense_Mutation_p.P435S|DICER1_ENST00000527414.1_Missense_Mutation_p.P435S|DICER1_ENST00000541352.1_Missense_Mutation_p.P435S|DICER1_ENST00000343455.3_Missense_Mutation_p.P435S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	435	Helicase C-terminal.|Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAAGGAGAAGGAAAATTTGTC	0.343000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				11	39					0	0	0.008291	0	0
HMCN1	83872	broad.mit.edu	37	1	186099734	186099734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:186099734C>T	ENST00000271588.4	+	85	13364	c.13135C>T	c.(13135-13137)Cca>Tca	p.P4379S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P4379S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4379	Ig-like C2-type 43.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGACCCCACCCCAACCATCCA	0.488000													11	73					0	0	0.001368	0	0
OR11H6	122748	broad.mit.edu	37	14	20692800	20692800	+	Missense_Mutation	SNP	G	G	A	rs143225754	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:20692800G>A	ENST00000315519.2	+	1	1010	c.932G>A	c.(931-933)cGa>cAa	p.R311Q		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R311Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TATAGTCTTCGAAACAAAGAC	0.423000													6	75					0	0	0.003080	0	0
QSER1	79832	broad.mit.edu	37	11	32953291	32953291	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:32953291A>G	ENST00000399302.2	+	4	435	c.100A>G	c.(100-102)Atg>Gtg	p.M34V	QSER1_ENST00000527250.1_3'UTR|QSER1_ENST00000527788.1_Missense_Mutation_p.M34V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	34										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CTTCATAGGCATGCATTCCTC	0.403000													10	53					0	0	0.000978	0	0
CENPE	1062	broad.mit.edu	37	4	104080030	104080030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:104080030G>A	ENST00000265148.3	-	23	2704	c.2615C>T	c.(2614-2616)aCc>aTc	p.T872I	CENPE_ENST00000380026.3_Missense_Mutation_p.T847I	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	872					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AAGTTCTTGGGTCTTGTAAGA	0.373000													10	28					0	0	0.006214	0	0
TBX15	6913	broad.mit.edu	37	1	119427931	119427931	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:119427931C>T	ENST00000369429.3	-	8	1242	c.1233G>A	c.(1231-1233)caG>caA	p.Q411Q	TBX15_ENST00000207157.3_Silent_p.Q305Q			Q96SF7	TBX15_HUMAN	T-box 15	411						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGGGTAGCTCTGCAAGGCAG	0.542000													4	30					0	0	0.000248	0	0
LRRC32	2615	broad.mit.edu	37	11	76370947	76370947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:76370947G>A	ENST00000407242.2	-	3	1932	c.1690C>T	c.(1690-1692)Cgg>Tgg	p.R564W	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.R564W|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.R564W	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	564						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TAGAGGCGCCGGAGGCTGGTC	0.667000													5	21					0	0	0.000602	0	0
PLIN4	729359	broad.mit.edu	37	19	4511880	4511880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:4511880C>T	ENST00000301286.3	-	3	2049	c.2050G>A	c.(2050-2052)Gac>Aac	p.D684N		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	684	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTGACTGTGTCCTTGGTGCCG	0.582000													8	196					0	0	0.003080	0	0
KCNA1	3736	broad.mit.edu	37	12	5021486	5021486	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:5021486C>T	ENST00000382545.3	+	2	2049	c.942C>T	c.(940-942)atC>atT	p.I314I	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	314					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCCTCCAGATCCTGGGCCAGA	0.547000													5	46					0	0	0.000602	0	0
MYH6	4624	broad.mit.edu	37	14	23855235	23855235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:23855235C>T	ENST00000405093.3	-	34	5135	c.5065G>A	c.(5065-5067)Gag>Aag	p.E1689K	MYH6_ENST00000356287.3_Missense_Mutation_p.E1689K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1689					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCACGCAGCTCCTCCAGCTCA	0.647000													10	30					0	0	0.008291	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110431368	110431368	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:110431368G>A	ENST00000378402.5	+	22	2507	c.2403G>A	c.(2401-2403)acG>acA	p.T801T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	801					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCGTAAGAACGAAATACACTG	0.373000										HNSCC(38;0.096)			9	45					0	0	0.000978	0	0
SULF2	55959	broad.mit.edu	37	20	46294001	46294001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:46294001C>T	ENST00000359930.4	-	14	2790	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	SULF2_ENST00000467815.1_Missense_Mutation_p.E647K|SULF2_ENST00000484875.1_Missense_Mutation_p.E647K|SULF2_ENST00000361612.4_Missense_Mutation_p.E647K	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	647					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCTCGGACTTCCCTCAGGTTC	0.512000													11	133					0	0	0.001368	0	0
TRIM2	23321	broad.mit.edu	37	4	154197219	154197219	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:154197219C>T	ENST00000338700.5	+	3	455	c.390C>T	c.(388-390)atC>atT	p.I130I	TRIM2_ENST00000437508.2_Silent_p.I103I|TRIM2_ENST00000494872.1_3'UTR	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	103						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		AGTCTTCCATCCTGGAGACAG	0.572000													4	38					0	0	0.001168	0	0
PLGRKT	55848	broad.mit.edu	37	9	5361159	5361159	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:5361159G>A	ENST00000223864.2	-	5	462	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L		NM_018465.3	NP_060935.2	Q9HBL7	CI046_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	81						integral to membrane											ATCGGGACCAGGAAGGCTGGC	0.343000													4	43					0	0	0.000248	0	0
UGT2B10	7365	broad.mit.edu	37	4	69696584	69696584	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:69696584G>A	ENST00000265403.7	+	6	1601	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E	UGT2B10_ENST00000458688.2_Missense_Mutation_p.G441E	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	525					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.G525L(2)|p.G525V(2)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GGAAAGAAGGGAAAAAGGGAT	0.378000													7	47					0	0	0.001984	0	0
LDB3	11155	broad.mit.edu	37	10	88451783	88451783	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:88451783T>C	ENST00000429277.2	+	7	1169	c.1024T>C	c.(1024-1026)Tcc>Ccc	p.S342P	LDB3_ENST00000361373.4_Missense_Mutation_p.S274P|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000458213.2_Missense_Mutation_p.S227P|LDB3_ENST00000263066.6_Missense_Mutation_p.S227P|LDB3_ENST00000372056.4_Missense_Mutation_p.S342P|LDB3_ENST00000310944.6_Missense_Mutation_p.S274P|LDB3_ENST00000372066.3_Missense_Mutation_p.S227P	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	341						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GCAGTCTCGCTCCTTCCGCAT	0.617000													4	29					0	0	0.000248	0	0
RAB13	5872	broad.mit.edu	37	1	153957211	153957211	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:153957211G>A	ENST00000368575.3	-	2	286	c.171C>T	c.(169-171)atC>atT	p.I57I	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	57					cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTTGTAGTTTGATCTTCTTCC	0.443000													13	24					0	0	0.004007	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42375969	42375969	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:42375969C>T	ENST00000290472.3	-	7	574	c.480G>A	c.(478-480)gaG>gaA	p.E160E		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	160					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GGCATGACAGCTCTCGGGCCT	0.602000													11	54					0	0	0.001368	0	0
FAM13C	220965	broad.mit.edu	37	10	61112072	61112072	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:61112072G>A	ENST00000373867.3	-	4	498	c.33C>T	c.(31-33)tcC>tcT	p.S11S	FAM13C_ENST00000468840.2_Silent_p.S11S|FAM13C_ENST00000422313.2_Silent_p.S94S|FAM13C_ENST00000373868.2_Silent_p.S94S|FAM13C_ENST00000277705.6_Silent_p.S94S|FAM13C_ENST00000435852.2_Silent_p.S94S|FAM13C_ENST00000419214.2_Silent_p.S94S|FAM13C_ENST00000442566.3_Silent_p.S94S	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	94										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTTGAAGATGGACTTGGGCT	0.577000													9	66					0	0	0.006214	0	0
LRRC49	54839	broad.mit.edu	37	15	71203926	71203926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:71203926C>T	ENST00000260382.5	+	6	816	c.556C>T	c.(556-558)Cat>Tat	p.H186Y	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.H176Y|LRRC49_ENST00000443425.2_Missense_Mutation_p.H142Y|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.H191Y	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	186						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CTTGGATCTTCATGGAAATCA	0.308000													8	89					0	0	0.004482	0	0
FBN2	2201	broad.mit.edu	37	5	127728828	127728828	+	Splice_Site	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:127728828T>G	ENST00000508053.1	-	16	2439	c.1465_splice	c.e16+1	p.T489_splice	FBN2_ENST00000262464.4_Splice_Site_p.T489_splice|FBN2_ENST00000508989.1_Splice_Site_p.T456_splice			P35556	FBN2_HUMAN	fibrillin 2	489					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GACCACTTACTTAGTCCAGTG	0.478000													8	55					0	0	0.008291	0	0
NCALD	83988	broad.mit.edu	37	8	102705105	102705105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:102705105G>A	ENST00000395923.1	-	5	857	c.398C>T	c.(397-399)tCc>tTc	p.S133F	NCALD_ENST00000521599.1_Missense_Mutation_p.S133F|NCALD_ENST00000311028.3_Missense_Mutation_p.S133F|NCALD_ENST00000522951.1_Missense_Mutation_p.S133F|NCALD_ENST00000519508.2_Missense_Mutation_p.S133F|NCALD_ENST00000220931.6_Missense_Mutation_p.S133F	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	neurocalcin delta	133					synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CATTACAGAGGAAACCATCTT	0.463000													9	41					0	0	0.004482	0	0
ZNF287	57336	broad.mit.edu	37	17	16455190	16455190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:16455190C>T	ENST00000395824.1	-	6	2883	c.2266G>A	c.(2266-2268)Ggt>Agt	p.G756S	ZNF287_ENST00000395825.3_Missense_Mutation_p.G756S			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	749					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TGTTTGGCACCTGTATGAACA	0.378000													9	90					0	0	0.006214	0	0
PTPRB	5787	broad.mit.edu	37	12	70953333	70953333	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:70953333G>A	ENST00000334414.6	-	18	4548	c.4504C>T	c.(4504-4506)Ccc>Tcc	p.P1502S	PTPRB_ENST00000550857.1_Missense_Mutation_p.P1194S|PTPRB_ENST00000551525.1_Missense_Mutation_p.P1501S|PTPRB_ENST00000550358.1_Missense_Mutation_p.P1414S|PTPRB_ENST00000538708.1_Missense_Mutation_p.P1194S|PTPRB_ENST00000451516.2_Missense_Mutation_p.P1194S|PTPRB_ENST00000261266.5_Missense_Mutation_p.P1284S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1284	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CAGTCTGGGGGCCCTTTCCAC	0.478000													23	86					0	0	0.002299	0	0
ADCY5	111	broad.mit.edu	37	3	123044289	123044289	+	Silent	SNP	G	G	A	rs138891983		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:123044289G>A	ENST00000462833.1	-	8	3180	c.1968C>T	c.(1966-1968)atC>atT	p.I656I	ADCY5_ENST00000309879.5_Silent_p.I306I|ADCY5_ENST00000491190.1_Silent_p.I289I	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	656					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.I656I(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCATCTTGGCGATCATGGCCT	0.587000													12	102					0	0	0.003163	0	0
ENPP5	59084	broad.mit.edu	37	6	46129414	46129414	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:46129414C>T	ENST00000371383.2	-	5	1343	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	ENPP5_ENST00000230565.3_Silent_p.K361K			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	361						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TTGAGAAATTCTTTCTGAAGG	0.418000													30	311					0	0	0.003755	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531656	84531656	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:84531656C>T	ENST00000527857.1	+	0	1678					NR_026851.1																						CATGAATCCCCAGTACTTCCC	0.502000													6	47					0	0	0.001168	0	0
CACNG6	59285	broad.mit.edu	37	19	54515331	54515331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:54515331G>A	ENST00000252729.2	+	4	1261	c.671G>A	c.(670-672)gGc>gAc	p.G224D	CACNG6_ENST00000352529.1_Missense_Mutation_p.G153D|CACNG6_ENST00000346968.2_Missense_Mutation_p.G178D	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	224						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CTGGGCTGCGGCGTGGGGGCC	0.706000													14	28					0	0	0.001855	0	0
SDHD	6392	broad.mit.edu	37	11	112041210	112041210	+	Missense_Mutation	SNP	C	C	T	rs12294058	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:112041210C>T	ENST00000532699.1	+	4	388	c.383C>T	c.(382-384)cCg>cTg	p.P128L	TEX12_ENST00000280358.4_Silent_p.S44S|TEX12_ENST00000530752.1_Silent_p.S44S|RP11-356J5.4_ENST00000527589.1_RNA			O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	0					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II	electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Succinic acid(DB00139)	CTGAAATTTCCGGACTATTTT	0.343000			"""Mis, N, F, S"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome				11	37					0	0	0.008291	0	0
CYP2C8	1558	broad.mit.edu	37	10	96798741	96798741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:96798741G>A	ENST00000371270.3	-	8	1298	c.1204C>T	c.(1204-1206)Cct>Tct	p.P402S	CYP2C8_ENST00000535898.1_Missense_Mutation_p.P300S	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	402					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTTGGATTAGGAAATTCTTTG	0.373000													6	38					0	0	0.001168	0	0
DNAH9	1770	broad.mit.edu	37	17	11671843	11671843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:11671843G>A	ENST00000262442.3	+	37	7312	c.7244G>A	c.(7243-7245)gGa>gAa	p.G2415E	DNAH9_ENST00000454412.2_Missense_Mutation_p.G2415E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2415					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTTCCCAAGGAACCATCTTT	0.502000													15	41					0	0	0.002450	0	0
FAM193A	8603	broad.mit.edu	37	4	2701828	2701828	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:2701828C>T	ENST00000324666.5	+	17	3407	c.3056C>T	c.(3055-3057)cCc>cTc	p.P1019L	FAM193A_ENST00000545951.1_Missense_Mutation_p.P1019L|FAM193A_ENST00000505311.1_Missense_Mutation_p.P1019L|FAM193A_ENST00000382839.3_Missense_Mutation_p.P1019L|FAM193A_ENST00000502458.1_Missense_Mutation_p.P1041L	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1019										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TTTCTCCTCCCCAAGGAGGTG	0.547000													14	71					0	0	0.001855	0	0
TRGV8	6982	broad.mit.edu	37	7	38370155	38370155	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:38370155G>A	ENST00000390343.2	-	0	256																											GGTGTAGACGGCATTTTCTAC	0.502000													7	46					0	0	0.003080	0	0
NPY4R	5540	broad.mit.edu	37	10	47087077	47087077	+	Silent	SNP	C	C	T	rs148299885	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:47087077C>T	ENST00000374312.1	+	3	713	c.294C>T	c.(292-294)acC>acT	p.T98T	NPY4R_ENST00000395716.1_Silent_p.T98T	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		AGCCGCTGACCGCCGTCTACA	0.567000													12	92					0	0	0.000978	0	0
DEFB119	245932	broad.mit.edu	37	20	29966185	29966185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:29966185C>T	ENST00000339144.3	-	2	177	c.71G>A	c.(70-72)aGg>aAg	p.R24K	DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000492344.1_5'UTR			Q8N690	DB119_HUMAN	defensin, beta 119	24					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			tcccactgtcctcaccagagc	0.483000													10	65					0	0	0.006214	0	0
SLC13A2	9058	broad.mit.edu	37	17	26816316	26816316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:26816316C>T	ENST00000444914.3	+	2	607	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	SLC13A2_ENST00000314669.5_Missense_Mutation_p.P63S|SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000537681.1_5'UTR	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	63						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TGCCCTCTTCCCCTTAATCCT	0.622000													9	27					0	0	0.006214	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185093	127185093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:127185093C>T	ENST00000371124.3	-	1	1289	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	365						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GTCCCATACTCCTTGAAGTCT	0.473000													26	47					0	0	0.007291	0	0
TET1	80312	broad.mit.edu	37	10	70332849	70332849	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:70332849T>G	ENST00000373644.4	+	2	963	c.754T>G	c.(754-756)Ttt>Gtt	p.F252V		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	252					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTGTGCTCCTTTTCCCCAAAG	0.458000													8	41					0	0	0.003080	0	0
CBLN3	643866	broad.mit.edu	37	14	24897149	24897149	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:24897149G>A	ENST00000267406.6	-	3	934	c.464C>T	c.(463-465)gCc>gTc	p.A155V	CBLN3_ENST00000555436.1_Missense_Mutation_p.A104V	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	155	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		AGGATCATTGGCAAAGGCTGA	0.637000													6	36					0	0	0.001168	0	0
LILRP2	79166	broad.mit.edu	37	19	55221625	55221625	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55221625C>T	ENST00000413439.1	+	0	1405																											CCCTGAGCATCCTGATCGCAG	0.677000													4	21					0	0	0.001168	0	0
MAP1LC3C	440738	broad.mit.edu	37	1	242161914	242161914	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:242161914C>T	ENST00000357246.3	-	3	187	c.123G>A	c.(121-123)gtG>gtA	p.V41V		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	41					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGTAGCGCTCCACTACCACCT	0.552000											OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	77					0	0	0.002450	0	0
NPAS1	4861	broad.mit.edu	37	19	47543709	47543709	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:47543709G>A	ENST00000602212.1	+	9	1190	c.970G>A	c.(970-972)Gac>Aac	p.D324N	NPAS1_ENST00000449844.2_Missense_Mutation_p.D324N|NPAS1_ENST00000439365.2_Missense_Mutation_p.D148N|NPAS1_ENST00000602189.1_Missense_Mutation_p.D149N			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	324	PAS 2.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		CAGAGTCAGCGACCACATGGA	0.652000													3	5					0	0	0.004672	0	0
GRIN2B	2904	broad.mit.edu	37	12	14018773	14018773	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:14018773G>A	ENST00000279593.3	-	2	579	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	124					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGATGCCCAGGATGGGGGTG	0.547000													16	133					0	0	0.004007	0	0
IGHV3OR15-7	28318	broad.mit.edu	37	15	20193130	20193130	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:20193130G>A	ENST00000558565.2	-	0	137																											CACTGAAGGTGAATCCAGAGG	0.537000													6	14					0	0	0.001168	0	0
RYR2	6262	broad.mit.edu	37	1	237982395	237982395	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:237982395C>T	ENST00000366574.2	+	101	14810	c.14493C>T	c.(14491-14493)atC>atT	p.I4831I	RYR2_ENST00000360064.6_Silent_p.I4837I|RYR2_ENST00000542537.1_Silent_p.I4815I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4831					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.I4829I(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGATGAAATCGAAGACCCAG	0.413000													4	49					0	0	0.001168	0	0
ALOX15B	247	broad.mit.edu	37	17	7948190	7948190	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:7948190C>T	ENST00000380183.4	+	6	859	c.720C>T	c.(718-720)tcC>tcT	p.S240S	ALOX15B_ENST00000573359.1_Silent_p.S240S|ALOX15B_ENST00000380173.2_Silent_p.S240S|ALOX15B_ENST00000572022.1_Silent_p.S240S	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	240	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TCTTCGCCTCCCAGTTCCTGA	0.607000													4	30					0	0	0.000248	0	0
WWTR1	25937	broad.mit.edu	37	3	149290687	149290687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:149290687G>A	ENST00000465804.1	-	4	788	c.532C>T	c.(532-534)Cct>Tct	p.P178S	WWTR1_ENST00000467467.1_Missense_Mutation_p.P178S|WWTR1_ENST00000360632.3_Missense_Mutation_p.P178S	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	178					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GACCTCTGAGGCACTGGTGTG	0.443000			T	CAMTA1	epitheliod hemangioendothelioma								9	55					0	0	0.008291	0	0
ACTL6A	86	broad.mit.edu	37	3	179287619	179287619	+	Silent	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:179287619T>C	ENST00000429709.2	+	2	246	c.33T>C	c.(31-33)gtT>gtC	p.V11V	ACTL6A_ENST00000450518.2_5'UTR|ACTL6A_ENST00000392662.1_5'UTR	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	11					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			CAGATGAAGTTGGAGCCCTTG	0.408000													14	48					0	0	0.002450	0	0
UNC93A	54346	broad.mit.edu	37	6	167708163	167708163	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:167708163C>T	ENST00000230256.3	+	2	421	c.246C>T	c.(244-246)tcC>tcT	p.S82S	UNC93A_ENST00000366829.2_Silent_p.S82S|UNC93A_ENST00000366830.2_3'UTR	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	82						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGGCCTTCTCCGTGGGCAACT	0.637000													11	102					0	0	0.001855	0	0
RBFOX1	54715	broad.mit.edu	37	16	7760716	7760716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:7760716G>A	ENST00000340209.4	+	13	1475	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	RBFOX1_ENST00000547372.1_3'UTR|RBFOX1_ENST00000311745.5_Missense_Mutation_p.R409Q|RBFOX1_ENST00000547338.1_Missense_Mutation_p.R388Q|RBFOX1_ENST00000436368.2_Missense_Mutation_p.R383Q|RBFOX1_ENST00000355637.4_3'UTR|RBFOX1_ENST00000553186.1_Missense_Mutation_p.R361Q|RBFOX1_ENST00000550418.1_Missense_Mutation_p.R388Q|RBFOX1_ENST00000552089.1_3'UTR			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	388					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGTATATACCGAGGGGGATAC	0.438000													15	43					0	0	0.004990	0	0
AHRR	57491	broad.mit.edu	37	5	427986	427986	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:427986C>T	ENST00000316418.5	+	9	883	c.839C>T	c.(838-840)gCc>gTc	p.A280V	AHRR_ENST00000512529.1_Missense_Mutation_p.A108V|AHRR_ENST00000505113.1_Missense_Mutation_p.A262V|AHRR_ENST00000506456.1_Missense_Mutation_p.A118V	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCGTCAGGAGCCATGCTCCCG	0.552000													4	24					0	0	0.000248	0	0
CACNA1C	775	broad.mit.edu	37	12	2706436	2706436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:2706436C>T	ENST00000399655.1	+	21	3099	c.2834C>T	c.(2833-2835)aCc>aTc	p.T945I	CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T945I|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T945I|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T945I|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T945I|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T970I|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T945I|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T945I|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T945I|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T945I|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T945I|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T945I|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T945I|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T945I|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T945I	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	945					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACCATTTTCACCATTGAAATT	0.498000													9	128					0	0	0.006214	0	0
FCRLB	127943	broad.mit.edu	37	1	161697270	161697270	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:161697270C>T	ENST00000367948.2	+	8	1314	c.1099C>T	c.(1099-1101)Ctg>Ttg	p.L367L	FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000367946.3_Silent_p.P318P|FCRLB_ENST00000367945.1_Silent_p.P311P|FCRLB_ENST00000392158.1_Silent_p.L367L|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367944.3_3'UTR			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	367						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GGCTGGAGCCCTGAAACCCGA	0.677000													6	59					0	0	0.004482	0	0
ZNF750	79755	broad.mit.edu	37	17	80789372	80789372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:80789372C>T	ENST00000269394.3	-	2	1792	c.959G>A	c.(958-960)gGa>gAa	p.G320E	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	320						intracellular	zinc ion binding	p.G320E(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCTGTAAAATCCGTAAGGAAT	0.542000													16	183					0	0	0.004990	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951608	119951608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:119951608G>A	ENST00000307142.4	+	4	1874	c.1678G>A	c.(1678-1680)Ggt>Agt	p.G560S	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.G560S|SYNPO2_ENST00000434046.2_Missense_Mutation_p.G560S	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	560						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGTGAGTCATGGTCTTGGCCA	0.517000													14	25					0	0	0.007413	0	0
PTPRF	5792	broad.mit.edu	37	1	44072522	44072522	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:44072522T>G	ENST00000359947.4	+	21	4080	c.3740T>G	c.(3739-3741)gTg>gGg	p.V1247G	PTPRF_ENST00000372413.3_Missense_Mutation_p.V1238G|PTPRF_ENST00000372414.3_Missense_Mutation_p.V1247G|PTPRF_ENST00000422171.2_Missense_Mutation_p.V595G|PTPRF_ENST00000438120.1_Missense_Mutation_p.V1238G|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1247					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GATGAGATCGTGGTCCAGGTG	0.627000													6	56					0	0	0.001168	0	0
DNAH7	56171	broad.mit.edu	37	2	196791250	196791250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:196791250C>T	ENST00000312428.6	-	22	3612	c.3512G>A	c.(3511-3513)cGa>cAa	p.R1171Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1171	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1171Q(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCAGTTAATTCGTTCATATTT	0.353000													8	43					0	0	0.000978	0	0
SCUBE3	222663	broad.mit.edu	37	6	35213058	35213058	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:35213058A>T	ENST00000274938.7	+	19	2455	c.2455A>T	c.(2455-2457)Aac>Tac	p.N819Y	SCUBE3_ENST00000394681.1_Missense_Mutation_p.N835Y	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	819	CUB.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TGAGTCCCCCAACTACCCGGG	0.547000													10	82					0	0	0.008291	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33658334	33658334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:33658334G>A	ENST00000504830.1	-	7	1480	c.1145C>T	c.(1144-1146)tCg>tTg	p.S382L	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S382L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	382	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGGGAGTCCCGAATCTTCATT	0.507000										HNSCC(64;0.19)			17	78					0	0	0.004990	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74648365	74648365	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:74648365G>A	ENST00000354431.4	-	3	621	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.L144F|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.L144F|LRRIQ3_ENST00000370909.2_Intron	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	144	LRRCT.							p.L144I(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTGTTAACAAGAACATGTCTA	0.368000													5	44					0	0	0.000602	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111636044	111636044	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:111636044C>T	ENST00000527614.1	-	2	244	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	PPP2R1B_ENST00000393055.2_Missense_Mutation_p.R60Q|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.R60Q|PPP2R1B_ENST00000426998.2_Intron|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.R60Q|PPP2R1B_ENST00000427203.2_5'UTR	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	60							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CAATTCACTTCGGGTCCTTTC	0.363000													14	62					0	0	0.004007	0	0
IQUB	154865	broad.mit.edu	37	7	123097516	123097516	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:123097516G>A	ENST00000466202.1	-	12	2688	c.2112C>T	c.(2110-2112)tcC>tcT	p.S704S	RP11-332K15.1_ENST00000419832.1_RNA|IQUB_ENST00000324698.6_Silent_p.S704S			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	704										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ACCACTCCAGGGATTTATTCC	0.453000													10	105					0	0	0.008291	0	0
SARDH	1757	broad.mit.edu	37	9	136573515	136573515	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:136573515C>T	ENST00000371872.4	-	11	1621	c.1364G>A	c.(1363-1365)tGg>tAg	p.W455*	SARDH_ENST00000422262.2_Nonsense_Mutation_p.W287*|SARDH_ENST00000439388.1_Nonsense_Mutation_p.W455*	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	455					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CTCTCGGATCCAGCGGGGGTG	0.657000													10	77					0	0	0.002450	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029734	13029734	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:13029734G>A	ENST00000399002.2	+	2	533	c.259G>A	c.(259-261)Gga>Aga	p.G87R	SPTLC3_ENST00000378194.4_Missense_Mutation_p.G87R|SPTLC3_ENST00000476791.1_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	87					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	AAGAAACTGGGGAATAGAAAA	0.418000													4	61					0	0	0.000248	0	0
TRANK1	9881	broad.mit.edu	37	3	36898681	36898681	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:36898681C>T	ENST00000429976.2	-	12	2647	c.2400G>A	c.(2398-2400)aaG>aaA	p.K800K	TRANK1_ENST00000428977.2_Silent_p.K250K|TRANK1_ENST00000301807.6_Silent_p.K250K			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	800					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TAGACAGCTTCTTCAGCATTT	0.507000													12	176					0	0	0.003163	0	0
PRB3	5544	broad.mit.edu	37	12	11421019	11421019	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:11421019C>T	ENST00000381842.3	-	0	201				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding	p.G55E(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTCTGGCTTTCCTGGAGGAGG	0.597000													19	137					0	0	0.001882	0	0
TTN	7273	broad.mit.edu	37	2	179640441	179640441	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179640441C>T	ENST00000589042.1	-	28	6374	c.6150G>A	c.(6148-6150)aaG>aaA	p.K2050K	TTN_ENST00000360870.5_Silent_p.K2050K|TTN_ENST00000460472.2_Silent_p.K2004K|TTN_ENST00000342992.6_Silent_p.K2050K|TTN_ENST00000342175.6_Silent_p.K2004K|TTN_ENST00000359218.5_Silent_p.K2004K|TTN_ENST00000591111.1_Silent_p.K2050K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1819							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGAGCTTTCTTTTCCTCTT	0.408000													14	70					0	0	0.004990	0	0
SAP18	10284	broad.mit.edu	37	13	21715073	21715073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:21715073C>T	ENST00000382533.4	+	2	217	c.178C>T	c.(178-180)Cac>Tac	p.H60Y	SAP18_ENST00000485646.1_3'UTR|SAP18_ENST00000607003.1_Missense_Mutation_p.H41Y	NM_005870.4	NP_005861.2	O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	41					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		CGGCCGCCACCACCGAATGGA	0.592000													13	96					0	0	0.006122	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439687	150439687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:150439687G>A	ENST00000358647.3	+	3	827	c.460G>A	c.(460-462)Gag>Aag	p.E154K	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCCACAAAGAGGACTTAGG	0.557000													14	80					0	0	0.003163	0	0
NHLRC2	374354	broad.mit.edu	37	10	115668122	115668122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:115668122C>T	ENST00000369301.3	+	11	2220	c.2008C>T	c.(2008-2010)Cct>Tct	p.P670S		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	670					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		ACTACAAATTCCTGATGATTG	0.368000													6	48					0	0	0.001168	0	0
ABCA4	24	broad.mit.edu	37	1	94476401	94476401	+	Missense_Mutation	SNP	A	A	C	rs61750635		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:94476401A>C	ENST00000370225.3	-	40	5755	c.5669T>G	c.(5668-5670)tTc>tGc	p.F1890C	ABCA4_ENST00000535881.1_Missense_Mutation_p.F9C|ABCA4_ENST00000536513.1_Missense_Mutation_p.F160C|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1890			Missing (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGTCAGGAGGAAGTACACCAC	0.587000													4	32					0	0	0.000602	0	0
MAEL	84944	broad.mit.edu	37	1	166991040	166991040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:166991040C>T	ENST00000367872.4	+	12	1497	c.1253C>T	c.(1252-1254)tCa>tTa	p.S418L	MAEL_ENST00000367870.2_Missense_Mutation_p.S387L|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	418					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACTTCACTCTCACCTTACATG	0.408000													14	49					0	0	0.004007	0	0
VHL	7428	broad.mit.edu	37	3	10188288	10188288	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:10188288G>A	ENST00000256474.2	+	2	1271	c.431G>A	c.(430-432)gGa>gAa	p.G144E	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	144	Involved in binding to CCT complex.				anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.G144fs*15(4)|p.G144fs*29(1)|p.G144fs*14(1)|p.G144A(1)|p.D143fs*29(1)|p.S139fs*12(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AATGTTGACGGACAGCCTATT	0.423000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				11	107					0	0	0.000978	0	0
PRR5	55615	broad.mit.edu	37	22	45110520	45110520	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:45110520C>T	ENST00000403581.1	+	4	862	c.253C>T	c.(253-255)Cag>Tag	p.Q85*	PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000389773.5_Nonsense_Mutation_p.Q53*|PRR5-ARHGAP8_ENST00000352766.7_Nonsense_Mutation_p.Q62*|PRR5_ENST00000336985.6_Nonsense_Mutation_p.Q62*|ARHGAP8_ENST00000517296.3_Nonsense_Mutation_p.Q62*|PRR5-ARHGAP8_ENST00000361473.5_Nonsense_Mutation_p.Q62*	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		GCTGCCCGACCAGGAGCTCTT	0.647000													6	77					0	0	0.001984	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6055714	6055714	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:6055714C>T	ENST00000282924.5	-	13	2354	c.1869G>A	c.(1867-1869)ctG>ctA	p.L623L	JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000409831.1_Silent_p.L623L|JAKMIP1_ENST00000409021.3_Intron|JAKMIP1_ENST00000410077.2_Silent_p.L458L	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	623	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACATGAATTTCAGTTTGGGTT	0.348000													16	73					0	0	0.004007	0	0
PSMD2	5708	broad.mit.edu	37	3	184026546	184026546	+	Silent	SNP	C	C	T	rs11545171		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:184026546C>T	ENST00000310118.4	+	21	3153	c.2595C>T	c.(2593-2595)ttC>ttT	p.F865F	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Silent_p.F735F|PSMD2_ENST00000435761.1_Silent_p.F706F	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	865					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TCACAGGGTTCCAGACGCATA	0.517000											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	83					0	0	0.006214	0	0
GPRIN1	114787	broad.mit.edu	37	5	176024766	176024766	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:176024766G>A	ENST00000303991.4	-	2	2247	c.2070C>T	c.(2068-2070)tcC>tcT	p.S690S		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	690						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTTCCCCAGGGACACAGGCT	0.577000													6	28					0	0	0.001984	0	0
SCARF2	91179	broad.mit.edu	37	22	20783888	20783888	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:20783888G>A	ENST00000405555.3	-	8	1429	c.1359C>T	c.(1357-1359)ctC>ctT	p.L453L	SCARF2_ENST00000266214.5_Silent_p.L453L	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	453					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCAGGCAGACGAGCAGGACGA	0.677000													9	47					0	0	0.000978	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043970	71043970	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:71043970C>T	ENST00000272367.2	-	4	619	c.543G>A	c.(541-543)caG>caA	p.Q181Q	CLEC4F_ENST00000426626.1_Silent_p.Q181Q	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	181					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CCTTGAGCCTCTGGATCTCAG	0.443000													7	31					0	0	0.003080	0	0
BRINP3	339479	broad.mit.edu	37	1	190129977	190129977	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:190129977G>A	ENST00000367462.3	-	7	1236	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.F233F	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		335						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					ATGTGTTGAGGAAATAATTCA	0.299000													14	96					0	0	0.004007	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170246	32170246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:32170246C>T	ENST00000375023.3	-	21	3500	c.3362G>A	c.(3361-3363)gGg>gAg	p.G1121E		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1121	EGF-like 28.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTCAGGACCCCCATAGCCACT	0.657000													34	274					0	0	0.003271	0	0
CEL	1056	broad.mit.edu	37	9	135945962	135945962	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:135945962C>T	ENST00000372080.4	+	10	1426	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	CEL_ENST00000351304.7_Intron	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	467					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GGAAGCCCTTCGCCACCCCCA	0.582000													43	438					0	0	0.003610	0	0
BDH2	56898	broad.mit.edu	37	4	104012420	104012420	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:104012420G>A	ENST00000296424.4	-	5	391	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	91					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		TCACAATCCAGGACAGTTCCA	0.393000													11	27					0	0	0.008291	0	0
CHD2	1106	broad.mit.edu	37	15	93482840	93482840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:93482840C>T	ENST00000394196.4	+	7	1652	c.584C>T	c.(583-585)cCg>cTg	p.P195L	CHD2_ENST00000536619.1_Missense_Mutation_p.P208L|CHD2_ENST00000557381.1_Missense_Mutation_p.P195L|CHD2_ENST00000420239.2_Missense_Mutation_p.P195L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	195					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAAAAGCAGCCGAAGACTCAG	0.413000													14	78					0	0	0.004007	0	0
AMOTL1	154810	broad.mit.edu	37	11	94599213	94599213	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:94599213C>A	ENST00000433060.2	+	11	2509	c.2368C>A	c.(2368-2370)Cct>Act	p.P790T	AMOTL1_ENST00000317829.8_Missense_Mutation_p.P740T|AMOTL1_ENST00000317837.9_Intron	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	790						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CAGCCTACGTCCTGCCCGCTC	0.522000													6	21					3.59834e-05	4.06822e-05	0.001168	1	0
CCDC73	493860	broad.mit.edu	37	11	32739681	32739681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:32739681G>A	ENST00000531481.1	-	3	424	c.148C>T	c.(148-150)Cat>Tat	p.H50Y	CCDC73_ENST00000335185.5_Missense_Mutation_p.H50Y|CCDC73_ENST00000534415.1_5'UTR			Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	50										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TCTTCATAATGAATTTCTGCT	0.338000													13	86					0	0	0.002450	0	0
RPTN	126638	broad.mit.edu	37	1	152129231	152129231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:152129231C>T	ENST00000316073.3	-	3	408	c.344G>A	c.(343-345)gGa>gAa	p.G115E		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	115	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCTGTGTTTCCTGGGAACTT	0.527000													31	193					0	0	0.002096	0	0
GNB3	2784	broad.mit.edu	37	12	6953089	6953089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:6953089G>A	ENST00000229264.3	+	9	1051	c.646G>A	c.(646-648)Ggg>Agg	p.G216R	GNB3_ENST00000435982.2_Missense_Mutation_p.G215R	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	216					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TGTGCGAGAGGGGACCTGCCG	0.592000													5	47					0	0	0.000602	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540380	169540380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:169540380C>T	ENST00000340806.6	+	1	671	c.671C>T	c.(670-672)cCc>cTc	p.P224L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	224										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AACAACCTTCCCGTTCTGCCC	0.542000													17	46					0	0	0.004990	0	0
DACT1	51339	broad.mit.edu	37	14	59113692	59113692	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:59113692G>A	ENST00000395153.3	+	4	2387	c.2240G>A	c.(2239-2241)tGg>tAg	p.W747*	DACT1_ENST00000556859.1_Nonsense_Mutation_p.W503*|DACT1_ENST00000335867.4_Nonsense_Mutation_p.W784*|DACT1_ENST00000541264.2_Nonsense_Mutation_p.W503*|DACT1_ENST00000395151.3_Nonsense_Mutation_p.W503*	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	784					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GGCTTAATTTGGTCCCAGTTT	0.547000													5	65					0	0	0.001984	0	0
PPIL6	285755	broad.mit.edu	37	6	109748351	109748351	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:109748351G>A	ENST00000521072.2	-	4	1009	c.429C>T	c.(427-429)ttC>ttT	p.F143F	PPIL6_ENST00000424445.2_Silent_p.F111F|PPIL6_ENST00000440797.2_Silent_p.F143F|PPIL6_ENST00000524031.1_5'UTR	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	143					protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		CCAAAAACACGAAATCATGCT	0.308000													6	32					0	0	0.003080	0	0
VILL	50853	broad.mit.edu	37	3	38044690	38044690	+	Missense_Mutation	SNP	G	G	A	rs144181954		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:38044690G>A	ENST00000283713.6	+	15	1957	c.1691G>A	c.(1690-1692)cGg>cAg	p.R564Q	VILL_ENST00000465644.1_Missense_Mutation_p.R282Q|VILL_ENST00000383759.2_Missense_Mutation_p.R564Q			O15195	VILL_HUMAN	villin-like	564					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GAGATGGCACGGGTGGTGGTC	0.632000													4	39					0	0	0.000248	0	0
CFTR	1080	broad.mit.edu	37	7	117175412	117175412	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:117175412G>A	ENST00000003084.6	+	6	822	c.690G>A	c.(688-690)ctG>ctA	p.L230L	CFTR_ENST00000454343.1_Silent_p.L230L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	230	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTGGTTTCCTGATAGTCCTTG	0.448000									Cystic Fibrosis				25	66					0	0	0.003330	0	0
RPL10L	140801	broad.mit.edu	37	14	47120418	47120418	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:47120418C>T	ENST00000298283.3	-	1	610	c.522G>A	c.(520-522)acG>acA	p.T174T		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	174					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CATTAAACTTCGTGAAGCCCC	0.507000													13	69					0	0	0.003163	0	0
AMY2B	280	broad.mit.edu	37	1	104121994	104121994	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:104121994G>A	ENST00000361355.4	+	12	2024	c.1408G>A	c.(1408-1410)Gga>Aga	p.G470R	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	470					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	p.G470*(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TGTCATTTCTGGAGATAAAAT	0.343000													26	447					0	0	0.003271	0	0
COL6A6	131873	broad.mit.edu	37	3	130311933	130311933	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:130311933G>A	ENST00000358511.6	+	15	4431	c.4400G>A	c.(4399-4401)gGa>gAa	p.G1467E	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1467E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1467	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGAATTGACGGATTAAACGGA	0.378000													23	191					0	0	0.006320	0	0
JAK1	3716	broad.mit.edu	37	1	65332753	65332753	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:65332753G>A	ENST00000342505.4	-	7	1034	c.786C>T	c.(784-786)tcC>tcT	p.S262S		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	262	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGTCATGCGTGGACACGCTGC	0.403000			Mis		ALL								22	88					0	0	0.002780	0	0
PELP1	27043	broad.mit.edu	37	17	4607321	4607321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:4607321G>A	ENST00000301396.4	-	1	311	c.86C>T	c.(85-87)tCg>tTg	p.S29L	PELP1_ENST00000570823.1_5'UTR|PELP1_ENST00000436683.2_5'UTR|PELP1_ENST00000269230.7_Missense_Mutation_p.S29L|PELP1_ENST00000572293.1_Missense_Mutation_p.S79L|PELP1_ENST00000574876.1_Missense_Mutation_p.S29L			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	29					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CCGCGGGCCCGAGCTCACTGC	0.701000													10	20					0	0	0.000978	0	0
PCDH18	54510	broad.mit.edu	37	4	138451522	138451522	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:138451522G>A	ENST00000344876.4	-	1	2107	c.1721C>T	c.(1720-1722)cCt>cTt	p.P574L	PCDH18_ENST00000507846.1_Missense_Mutation_p.P354L|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.P574L|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	574	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TATAACCACAGGAACGTTGTC	0.453000													14	121					0	0	0.004007	0	0
CCDC63	160762	broad.mit.edu	37	12	111317850	111317850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:111317850G>A	ENST00000308208.5	+	6	872	c.630G>A	c.(628-630)atG>atA	p.M210I	CCDC63_ENST00000545036.1_Missense_Mutation_p.M170I|CCDC63_ENST00000550317.1_Intron|CCDC63_ENST00000552694.1_Missense_Mutation_p.M131I	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	210										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AGAAAACCATGAACTTGGCCA	0.527000													9	112					0	0	0.008291	0	0
MBIP	51562	broad.mit.edu	37	14	36784011	36784011	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:36784011G>A	ENST00000416007.4	-	3	447	c.360C>T	c.(358-360)tcC>tcT	p.S120S	MBIP_ENST00000359527.7_Silent_p.S120S|MBIP_ENST00000318473.7_Silent_p.S120S	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	120					histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		GGTCGCCAATGGAAAATTTGT	0.363000													8	79					0	0	0.003080	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713723	70713723	+	RNA	SNP	C	C	T	rs72159324		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:70713723C>T	ENST00000530196.1	-	0	795					NR_003951.1																						ATGAAGAAATCATGGTTCACC	0.423000													6	59					0	0	0.001984	0	0
PITPNM2	57605	broad.mit.edu	37	12	123481277	123481277	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:123481277G>A	ENST00000280562.5	-	11	1858	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	PITPNM2_ENST00000392428.1_Silent_p.F272F|PITPNM2_ENST00000320201.4_Silent_p.F551F|PITPNM2_ENST00000542749.1_Silent_p.F551F			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	551					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCTGCCCATTGAAGGTCATGC	0.637000													7	65					0	0	0.003080	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603000	138603000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:138603000C>T	ENST00000440172.1	-	2	1420	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	KIAA1549_ENST00000422774.1_Missense_Mutation_p.E458K|KIAA1549_ENST00000242365.4_Missense_Mutation_p.E408K	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	458						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ATGCTGCTTTCTTCCAGCACG	0.507000			O	BRAF	pilocytic astrocytoma								4	40					0	0	0.000248	0	0
ZNF10	7556	broad.mit.edu	37	12	133732822	133732822	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:133732822C>T	ENST00000248211.6	+	5	1212	c.990C>T	c.(988-990)ttC>ttT	p.F330F	CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000402932.2_Silent_p.F196F|ZNF10_ENST00000426665.2_Silent_p.F330F|ZNF268_ENST00000416488.1_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GAAAATCCTTCAGCTGGTTCT	0.423000													16	45					0	0	0.004990	0	0
SNHG14	104472715	broad.mit.edu	37	15	25451447	25451447	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:25451447G>A	ENST00000424208.1	+	0	2384				SNHG14_ENST00000424333.1_RNA|SNORD115-20_ENST00000365099.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1																						CTGAAGAGAGGTGATGACTTA	0.502000													11	212					0	0	0.003163	0	0
RNF128	79589	broad.mit.edu	37	X	106038899	106038899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:106038899G>A	ENST00000255499.2	+	7	1493	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	RNF128_ENST00000324342.3_Missense_Mutation_p.E389K	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	415						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TGAAGAAGACGAAACTCCTAA	0.363000													35	70					0	0	0.006999	0	0
TEX14	56155	broad.mit.edu	37	17	56694920	56694920	+	Silent	SNP	G	G	A	rs62081268		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:56694920G>A	ENST00000389934.3	-	6	732	c.615C>T	c.(613-615)atC>atT	p.I205I	TEX14_ENST00000349033.5_Silent_p.I205I|TEX14_ENST00000240361.8_Silent_p.I205I	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	205						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAAAGCTGTAGATATTTTGAG	0.433000													10	104					0	0	0.001855	0	0
CFTR	1080	broad.mit.edu	37	7	117199612	117199612	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:117199612G>A	ENST00000003084.6	+	11	1619	c.1487G>A	c.(1486-1488)tGg>tAg	p.W496*	CFTR_ENST00000454343.1_Nonsense_Mutation_p.W435*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	496	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CAGTTTTCCTGGATTATGCCT	0.388000									Cystic Fibrosis				7	76					0	0	0.003080	0	0
TENM1	10178	broad.mit.edu	37	X	123518361	123518361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:123518361C>T	ENST00000422452.2	-	30	6483	c.6420G>A	c.(6418-6420)atG>atA	p.M2140I	TENM1_ENST00000371130.3_Missense_Mutation_p.M2133I|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CACATATTACCATGCGGCCCA	0.393000													16	38					0	0	0.006122	0	0
DISP1	84976	broad.mit.edu	37	1	223177902	223177902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:223177902C>T	ENST00000284476.6	+	8	3327	c.3163C>T	c.(3163-3165)Cat>Tat	p.H1055Y		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1055					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTTTGCCGTCCATTATGGGGT	0.562000													43	550					0	0	0.002222	0	0
CATSPER2P1	440278	broad.mit.edu	37	15	44028388	44028388	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:44028388G>A	ENST00000381680.2	-	0	1396					NR_002318.2																						ATAATAACTCGAATTTGACGG	0.488000													43	179					0	0	0.003610	0	0
IGHV3-35	28432	broad.mit.edu	37	14	106845496	106845496	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:106845496G>A	ENST00000390617.2	-	0	192																											CCCTTTCCTGGAGCCTGATGG	0.552000													23	108					0	0	0.003954	0	0
PDK1	5163	broad.mit.edu	37	2	173451030	173451030	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:173451030C>T	ENST00000410055.1	+	9	1070	c.970C>T	c.(970-972)Cct>Tct	p.P324S	PDK1_ENST00000544863.1_Missense_Mutation_p.P169S|PDK1_ENST00000543905.1_Missense_Mutation_p.P248S|PDK1_ENST00000392571.2_Missense_Mutation_p.P344S|PDK1_ENST00000282077.2_Missense_Mutation_p.P324S	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	324	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.P324S(1)		central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			AGGTGGCGTTCCTTTGAGGAA	0.443000									Autosomal Dominant Polycystic Kidney Disease				7	28					0	0	0.003080	0	0
WNT7A	7476	broad.mit.edu	37	3	13860784	13860784	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:13860784A>G	ENST00000285018.4	-	4	1011	c.707T>C	c.(706-708)gTt>gCt	p.V236A		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	236					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CTCCACGTGAACGGCCTCGTT	0.617000													6	50					0	0	0.001168	0	0
ATP10D	57205	broad.mit.edu	37	4	47563038	47563038	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:47563038G>A	ENST00000273859.3	+	14	2883	c.2614G>A	c.(2614-2616)Gaa>Aaa	p.E872K		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	872					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGACAACAGGGAAGAATTACT	0.383000													10	69					0	0	0.006214	0	0
DEPDC5	9681	broad.mit.edu	37	22	32218690	32218690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:32218690C>T	ENST00000400246.1	+	24	2160	c.2018C>T	c.(2017-2019)tCc>tTc	p.S673F	DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S673F|DEPDC5_ENST00000400248.1_Missense_Mutation_p.S673F|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S673F|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S673F|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382112.3_Missense_Mutation_p.S673F			O75140	DEPD5_HUMAN	DEP domain containing 5	673					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CACAGCAATTCCCGCCAGCCT	0.542000													4	39					0	0	0.000248	0	0
GFI1B	8328	broad.mit.edu	37	9	135864500	135864500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:135864500G>A	ENST00000339463.3	+	9	1382	c.563G>A	c.(562-564)gGg>gAg	p.G188E	GFI1B_ENST00000372123.1_Intron|GFI1B_ENST00000372124.1_Intron|GFI1B_ENST00000450530.1_Missense_Mutation_p.G188E|GFI1B_ENST00000534944.1_Intron|GFI1B_ENST00000372122.1_Missense_Mutation_p.G188E			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	188	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TCCCATAGTGGGACCCGGCCC	0.672000													5	25					0	0	0.001168	0	0
AXIN2	8313	broad.mit.edu	37	17	63554133	63554133	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:63554133A>T	ENST00000307078.5	-	2	919	c.606T>A	c.(604-606)agT>agA	p.S202R	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000375702.5_Missense_Mutation_p.S202R	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	202					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTTCTCCCCCACTCCTCACAT	0.488000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				11	60					0	0	0.000978	0	0
ACSL5	51703	broad.mit.edu	37	10	114169303	114169303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:114169303G>A	ENST00000393081.1	+	7	878	c.571G>A	c.(571-573)Gca>Aca	p.A191T	ACSL5_ENST00000354273.4_Missense_Mutation_p.A191T|ACSL5_ENST00000356116.1_Missense_Mutation_p.A247T|ACSL5_ENST00000433418.1_Missense_Mutation_p.A191T|ACSL5_ENST00000354655.4_Missense_Mutation_p.A191T	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	191					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ACCCCAAAAGGCATTGGTGCT	0.498000													15	109					0	0	0.006122	0	0
DOK5	55816	broad.mit.edu	37	20	53171574	53171574	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:53171574C>T	ENST00000262593.5	+	2	519	c.169C>T	c.(169-171)Cat>Tat	p.H57Y	DOK5_ENST00000395939.1_5'UTR	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	57	PH.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CAGGTGTTATCATAAGGTAAG	0.373000													7	21					0	0	0.004482	0	0
PRB3	5544	broad.mit.edu	37	12	11420548	11420548	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:11420548C>T	ENST00000381842.3	-	0	642				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGACTGGTTTCCTCCTTGTGG	0.622000													28	245					0	0	0.003610	0	0
PHF21A	51317	broad.mit.edu	37	11	45955721	45955721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:45955721G>A	ENST00000257821.4	-	18	2467	c.1844C>T	c.(1843-1845)tCc>tTc	p.S615F	PHF21A_ENST00000323180.6_Missense_Mutation_p.S568F|PHF21A_ENST00000418153.2_Missense_Mutation_p.S614F	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	614	Required for transcriptional repression.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CTTCTCCAGGGAGCTGTGCAT	0.562000													4	52					0	0	0.000602	0	0
DSP	1832	broad.mit.edu	37	6	7585673	7585673	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:7585673C>T	ENST00000379802.3	+	24	8519	c.8178C>T	c.(8176-8178)ttC>ttT	p.F2726F	DSP_ENST00000418664.2_Silent_p.F2127F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2726	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCCAGCGCTTCCTGGAGTTCC	0.552000													6	83					0	0	0.001168	0	0
MCF2L2	23101	broad.mit.edu	37	3	183014923	183014923	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:183014923G>A	ENST00000328913.3	-	12	1635	c.1338C>T	c.(1336-1338)ctC>ctT	p.L446L	MCF2L2_ENST00000414362.2_Silent_p.L446L|MCF2L2_ENST00000447025.2_Silent_p.L446L|MCF2L2_ENST00000473233.1_Silent_p.L446L|B3GNT5_ENST00000462559.1_3'UTR	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	446					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGGAAGCCAAGAGGTAGATTC	0.532000													5	51					0	0	0.001984	0	0
KCNH7	90134	broad.mit.edu	37	2	163279786	163279786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:163279786C>T	ENST00000328032.4	-	8	2404	c.2193G>A	c.(2191-2193)atG>atA	p.M731I	KCNH7_ENST00000332142.5_Intron	NM_173162.2	NP_775185.1	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	0					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GCTTTTATTCCATTTTGGCTA	0.418000													4	45					0	0	0.000248	0	0
TTC26	79989	broad.mit.edu	37	7	138872206	138872206	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:138872206C>T	ENST00000464848.1	+	17	1554	c.1474C>T	c.(1474-1476)Cct>Tct	p.P492S	TTC26_ENST00000430935.1_Intron|TTC26_ENST00000343187.4_Missense_Mutation_p.P461S|TTC26_ENST00000495038.1_Missense_Mutation_p.P361S|TTC26_ENST00000478836.2_Missense_Mutation_p.P385S			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	492							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GAGGCTGGATCCTAACCCTGA	0.443000													32	66					0	0	0.002445	0	0
NDST4	64579	broad.mit.edu	37	4	115760697	115760697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:115760697C>T	ENST00000264363.2	-	11	2801	c.2123G>A	c.(2122-2124)cGa>cAa	p.R708Q		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	708	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCATGTGATCGTTGGTGCTT	0.378000													5	40					0	0	0.001984	0	0
MYH4	4622	broad.mit.edu	37	17	10351229	10351229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10351229C>T	ENST00000255381.2	-	34	4981	c.4871G>A	c.(4870-4872)gGa>gAa	p.G1624E	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1624					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATTAAGATCTCCCTCCATCTT	0.463000													22	123					0	0	0.002299	0	0
ACSM2A	123876	broad.mit.edu	37	16	20489907	20489907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:20489907G>A	ENST00000573854.1	+	10	1303	c.1189G>A	c.(1189-1191)Gat>Aat	p.D397N	ACSM2A_ENST00000575690.1_Missense_Mutation_p.D397N|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Missense_Mutation_p.D169N|ACSM2A_ENST00000417235.2_Missense_Mutation_p.D318N|ACSM2A_ENST00000396104.2_Missense_Mutation_p.D397N|ACSM2A_ENST00000219054.6_Missense_Mutation_p.D397N	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	397					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GATCATAGATGATAAGGGCAA	0.478000													6	46					0	0	0.001168	0	0
TADA2B	93624	broad.mit.edu	37	4	7056555	7056555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:7056555C>T	ENST00000310074.7	+	2	1226	c.1037C>T	c.(1036-1038)cCa>cTa	p.P346L	TADA2B_ENST00000515646.1_Missense_Mutation_p.P254L|TADA2B_ENST00000512388.1_Missense_Mutation_p.P271L	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GAGAACCTTCCAGGCTTCGAG	0.512000													18	55					0	0	0.007413	0	0
KCNT2	343450	broad.mit.edu	37	1	196458988	196458988	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:196458988G>A	ENST00000367433.5	-	3	356	c.255C>T	c.(253-255)aaC>aaT	p.N85N	KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Silent_p.N85N|KCNT2_ENST00000367431.4_Silent_p.N85N			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	85						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTTGTGAAGGGTTTTCTAGTA	0.294000													5	98					0	0	0.001168	0	0
ZBED2	79413	broad.mit.edu	37	3	111312974	111312974	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:111312974C>T	ENST00000317012.4	-	2	1083	c.75G>A	c.(73-75)gaG>gaA	p.E25E	CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	25							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						TAATCTCTTCCTCCTCCTTCA	0.517000													6	44					0	0	0.001168	0	0
DMBT1	1755	broad.mit.edu	37	10	124380671	124380671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:124380671G>A	ENST00000338354.3	+	41	5102	c.4996G>A	c.(4996-4998)Gat>Aat	p.D1666N	DMBT1_ENST00000368956.2_Missense_Mutation_p.D1038N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D1656N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.D1656N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1038N|DMBT1_ENST00000368909.3_Missense_Mutation_p.D1666N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1666	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AACCGTGTGTGATGACAGCTG	0.607000													39	195					0	0	0.007835	0	0
IGLV3-27	28791	broad.mit.edu	37	22	23011004	23011004	+	RNA	SNP	C	C	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:23011004C>G	ENST00000390304.2	+	0	105																											CTCCTATGAGCTGACACAGCC	0.562000													9	115					0	0	0.001368	0	0
LBP	3929	broad.mit.edu	37	20	36997702	36997702	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:36997702C>T	ENST00000217407.2	+	10	1206	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	349					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.L349M(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TGCTCCGCTCCTGAACTTCAG	0.537000													20	68					0	0	0.002299	0	0
CACNA1C	775	broad.mit.edu	37	12	2714934	2714934	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:2714934C>T	ENST00000399655.1	+	24	3403	c.3138C>T	c.(3136-3138)atC>atT	p.I1046I	CACNA1C_ENST00000399591.1_Silent_p.I1046I|CACNA1C_ENST00000399629.1_Silent_p.I1046I|CACNA1C_ENST00000399644.1_Silent_p.I1046I|CACNA1C_ENST00000399649.1_Silent_p.I1046I|CACNA1C_ENST00000399597.1_Silent_p.I1046I|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000480911.1_Silent_p.I1046I|CACNA1C_ENST00000399641.1_Silent_p.I1046I|CACNA1C_ENST00000399617.1_Silent_p.I1046I|CACNA1C_ENST00000399603.1_Silent_p.I1046I|CACNA1C_ENST00000327702.7_Silent_p.I1046I|CACNA1C_ENST00000335762.5_Silent_p.I1071I|CACNA1C_ENST00000399638.1_Silent_p.I1046I|CACNA1C_ENST00000344100.3_Silent_p.I1046I|CACNA1C_ENST00000399621.1_Silent_p.I1046I|CACNA1C_ENST00000399637.1_Silent_p.I1046I|CACNA1C_ENST00000402845.3_Silent_p.I1046I|CACNA1C_ENST00000399606.1_Silent_p.I1066I|CACNA1C_ENST00000399601.1_Silent_p.I1046I|CACNA1C_ENST00000406454.3_Silent_p.I1046I|CACNA1C_ENST00000399634.1_Silent_p.I1046I|CACNA1C_ENST00000399595.1_Silent_p.I1046I|CACNA1C_ENST00000347598.4_Silent_p.I1066I	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1066					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TTGCCTGCATCGGGGTCCAGC	0.552000													5	39					0	0	0.001168	0	0
ADCY8	114	broad.mit.edu	37	8	131949419	131949419	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:131949419G>A	ENST00000286355.5	-	5	3473	c.1381C>T	c.(1381-1383)Ctg>Ttg	p.L461L	RP11-737F9.1_ENST00000523318.1_RNA|ADCY8_ENST00000377928.3_Silent_p.L461L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	461					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAGTCCCCCAGGATTTTAATA	0.502000										HNSCC(32;0.087)			9	26					0	0	0.004482	0	0
KCNA10	3744	broad.mit.edu	37	1	111060470	111060470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:111060470G>A	ENST00000369771.2	-	1	1327	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	314						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCAAAGTAGGGGATAATGGAG	0.532000													13	70					0	0	0.001855	0	0
OR13C3	138803	broad.mit.edu	37	9	107298321	107298321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:107298321C>T	ENST00000374781.2	-	1	816	c.774G>A	c.(772-774)atG>atA	p.M258I		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TGGCTGAATTCATTTGCAAGA	0.413000													7	66					0	0	0.004482	0	0
ZNFX1	57169	broad.mit.edu	37	20	47886753	47886753	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:47886753G>A	ENST00000396105.1	-	3	1842	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	ZNFX1_ENST00000371752.1_Silent_p.F532F|ZNFX1_ENST00000371754.4_Silent_p.F532F	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	532							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TATTCCTCTGGAAGGGAACAT	0.502000													16	91					0	0	0.007413	0	0
HERC2P3	283755	broad.mit.edu	37	15	20643903	20643903	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:20643903G>A	ENST00000428453.1	-	0	3556																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GAACTGCACGGTGATTTTGCC	0.512000													14	100					0	0	0.004007	0	0
WFDC8	90199	broad.mit.edu	37	20	44180689	44180689	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:44180689C>T	ENST00000357199.4	-	6	780	c.702G>A	c.(700-702)ctG>ctA	p.L234L	WFDC8_ENST00000289953.2_Silent_p.L234L	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	234	WAP 3.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CCATACATTTCAGTCCACAAT	0.418000													8	90					0	0	0.000978	0	0
NUAK1	9891	broad.mit.edu	37	12	106461652	106461652	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:106461652C>T	ENST00000261402.2	-	7	2293	c.914G>A	c.(913-915)tGg>tAg	p.W305*		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	305	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CCAGTTCACCCACCAGTGGTT	0.567000													7	25					0	0	0.001984	0	0
LPHN2	23266	broad.mit.edu	37	1	82408945	82408945	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:82408945G>A	ENST00000370728.1	+	8	1335	c.690G>A	c.(688-690)gtG>gtA	p.V230V	LPHN2_ENST00000394879.1_Silent_p.V230V|LPHN2_ENST00000370713.1_Silent_p.V230V|LPHN2_ENST00000370721.1_Silent_p.V234V|LPHN2_ENST00000335786.5_Silent_p.V230V|LPHN2_ENST00000370725.1_Silent_p.V230V|LPHN2_ENST00000359929.3_Silent_p.V230V|LPHN2_ENST00000370715.1_Silent_p.V230V|LPHN2_ENST00000370717.2_Silent_p.V230V|LPHN2_ENST00000319517.6_Silent_p.V230V|LPHN2_ENST00000370730.1_Silent_p.V230V|LPHN2_ENST00000370723.1_Silent_p.V230V|LPHN2_ENST00000370727.1_Silent_p.V230V|LPHN2_ENST00000271029.4_Silent_p.V230V|LPHN2_ENST00000469377.2_Intron			O95490	LPHN2_HUMAN	latrophilin 2	230	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGAATATTGTGAAATTTGACT	0.383000													7	38					0	0	0.003080	0	0
ELTD1	64123	broad.mit.edu	37	1	79358832	79358832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:79358832G>A	ENST00000370742.3	-	13	1855	c.1792C>T	c.(1792-1794)Cgt>Tgt	p.R598C		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	598					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.R598C(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCAGTGTGACGAAAAACTTTG	0.299000													5	37					0	0	0.001984	0	0
IFT88	8100	broad.mit.edu	37	13	21237654	21237654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:21237654C>T	ENST00000382778.4	+	25	3355	c.2237C>T	c.(2236-2238)tCg>tTg	p.S746L	IFT88_ENST00000319980.6_Missense_Mutation_p.R705C|IFT88_ENST00000537103.1_Missense_Mutation_p.R677C|IFT88_ENST00000351808.5_Missense_Mutation_p.R696C			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	0					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TTTCTTAGTTCGTCTCTGCAC	0.328000													4	27					0	0	0.000602	0	0
ATP8A1	10396	broad.mit.edu	37	4	42466951	42466951	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:42466951C>T	ENST00000381668.5	-	26	2698	c.2467G>A	c.(2467-2469)Ggc>Agc	p.G823S	ATP8A1_ENST00000264449.10_Missense_Mutation_p.G808S	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	823					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GCCTGCAGGCCTTCATTGCCA	0.458000													7	24					0	0	0.003080	0	0
SPHKAP	80309	broad.mit.edu	37	2	229046312	229046312	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:229046312C>T	ENST00000392056.3	-	1	49	c.3G>A	c.(1-3)atG>atA	p.M1I	SPHKAP_ENST00000344657.5_Start_Codon_SNP_p.M1I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGTTGCCATCCATTGTTGGTG	0.572000													16	80					0	0	0.006122	0	0
CSMD2	114784	broad.mit.edu	37	1	34166236	34166236	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:34166236C>T	ENST00000373381.4	-	23	3790	c.3614G>A	c.(3613-3615)gGa>gAa	p.G1205E	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.G78E	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1165	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTAAAAACTCCCAGCAAACG	0.502000													6	65					0	0	0.001168	0	0
CIITA	4261	broad.mit.edu	37	16	10996552	10996552	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:10996552C>T	ENST00000324288.8	+	8	799	c.666C>T	c.(664-666)ctC>ctT	p.L222L	CIITA_ENST00000381835.5_Silent_p.L173L|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	222					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GCCTGAATCTCCCTGAGGGAC	0.532000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								5	52					0	0	0.001168	0	0
BMS1	9790	broad.mit.edu	37	10	43287155	43287155	+	Silent	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:43287155T>C	ENST00000374518.4	+	6	780	c.717T>C	c.(715-717)atT>atC	p.I239I		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	239					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCCGTTTTATTACAGTTATGA	0.398000													12	117					0	0	0.003163	0	0
MACF1	23499	broad.mit.edu	37	1	39950307	39950307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:39950307C>T	ENST00000564288.1	+	100	23093	c.22316C>T	c.(22315-22317)cCa>cTa	p.P7439L	MACF1_ENST00000317713.7_Missense_Mutation_p.P5314L|MACF1_ENST00000567887.1_Missense_Mutation_p.P7476L|MACF1_ENST00000289893.4_Missense_Mutation_p.P5822L|MACF1_ENST00000545844.1_Missense_Mutation_p.P5314L|MACF1_ENST00000539005.1_Missense_Mutation_p.P5184L|MACF1_ENST00000361689.2_Missense_Mutation_p.P5314L|MACF1_ENST00000372915.3_Missense_Mutation_p.P7272L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7272					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTGAAACGACCAACACCAACT	0.403000													9	89					0	0	0.008291	0	0
FLG	2312	broad.mit.edu	37	1	152282627	152282627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:152282627C>T	ENST00000368799.1	-	3	4770	c.4735G>A	c.(4735-4737)Gga>Aga	p.G1579R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1579	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G1579fs*16(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGATTCTCCCTGGCCCACC	0.587000									Ichthyosis				13	150					0	0	0.002450	0	0
LIFR	3977	broad.mit.edu	37	5	38496631	38496631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:38496631C>T	ENST00000263409.4	-	13	1900	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.E580K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	580	Fibronectin type-III 4.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GACTGTGTTTCCTCATCTGAT	0.373000			T	PLAG1	salivary adenoma								10	38					0	0	0.000978	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540285	169540285	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:169540285C>T	ENST00000340806.6	+	1	576	c.576C>T	c.(574-576)atC>atT	p.I192I		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	192										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CCCTGGAAATCATTGACCTGG	0.493000													8	51					0	0	0.003080	0	0
NEK5	341676	broad.mit.edu	37	13	52676350	52676350	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:52676350G>A	ENST00000355568.4	-	10	827	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	230	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TGGAGCTCACGAGAAAACCCC	0.418000													19	145					0	0	0.001882	0	0
ESRRB	2103	broad.mit.edu	37	14	76928939	76928939	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:76928939G>A	ENST00000380887.2	+	3	521	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Missense_Mutation_p.R150Q|ESRRB_ENST00000509242.1_Missense_Mutation_p.R150Q|ESRRB_ENST00000556177.1_Missense_Mutation_p.R150Q			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	150						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R150Q(1)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		ATCACCAAACGGAGGCGCAAG	0.617000													7	82					0	0	0.001984	0	0
DAXX	1616	broad.mit.edu	37	6	33289563	33289563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:33289563G>A	ENST00000374542.5	-	2	344	c.140C>T	c.(139-141)gCc>gTc	p.A47V	DAXX_ENST00000414083.2_Intron|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Missense_Mutation_p.A47V	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	47	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCTTCCTCTGGCCCCATGAGG	0.587000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								36	192					0	0	0.006999	0	0
RP1L1	94137	broad.mit.edu	37	8	10465121	10465121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:10465121C>T	ENST00000382483.3	-	4	6710	c.6487G>A	c.(6487-6489)Ggt>Agt	p.G2163S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2163					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCCTCTATACCTTCTGACTCT	0.602000													14	131					0	0	0.001855	0	0
ZNF428	126299	broad.mit.edu	37	19	44112185	44112185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:44112185C>T	ENST00000300811.3	-	3	597	c.151G>A	c.(151-153)Gag>Aag	p.E51K	SRRM5_ENST00000607544.1_Intron|SRRM5_ENST00000526798.1_Intron	NM_182498.3	NP_872304.2	Q96B54	ZN428_HUMAN	zinc finger protein 428	51	Glu-rich.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				tcctcttcctcctcctcctca	0.617000													4	20					0	0	0.000248	0	0
LPAL2	80350	broad.mit.edu	37	6	160906919	160906919	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:160906919C>T	ENST00000335388.5	-	0	777					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GCAAGTGCTTCCTGTGACGGT	0.453000													19	176					0	0	0.006122	0	0
SUMF2	25870	broad.mit.edu	37	7	56136241	56136241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:56136241C>T	ENST00000434526.2	+	2	222	c.191C>T	c.(190-192)cCa>cTa	p.P64L	SUMF2_ENST00000437307.2_Missense_Mutation_p.P45L|SUMF2_ENST00000413756.1_Missense_Mutation_p.P45L|SUMF2_ENST00000395435.2_Missense_Mutation_p.P64L|SUMF2_ENST00000342190.6_Missense_Mutation_p.P64L|SUMF2_ENST00000275607.9_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.P64L	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	45						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACAAATTCTCCAGACAGCAGA	0.488000													12	19					0	0	0.001855	0	0
DDX19B	11269	broad.mit.edu	37	16	70363949	70363949	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:70363949C>T	ENST00000288071.6	+	9	1246	c.1001C>T	c.(1000-1002)gCt>gTt	p.A334V	DDX19B_ENST00000563206.1_Missense_Mutation_p.A339V|RP11-529K1.2_ENST00000562077.1_RNA|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000393657.2_Missense_Mutation_p.A225V|DDX19B_ENST00000355992.3_Missense_Mutation_p.A303V|DDX19B_ENST00000568625.1_Missense_Mutation_p.A225V|DDX19B_ENST00000563392.1_Missense_Mutation_p.A225V|DDX19B_ENST00000451014.3_Missense_Mutation_p.A308V	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	334	Helicase C-terminal.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				ATCACCATTGCTCAAGCCATG	0.582000													8	66					0	0	0.004482	0	0
CEP104	9731	broad.mit.edu	37	1	3732052	3732052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:3732052G>A	ENST00000378230.3	-	22	3016	c.2692C>T	c.(2692-2694)Ccc>Tcc	p.P898S		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	898						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GACCCCAAGGGGCCTGATGCG	0.652000													4	32					0	0	0.000602	0	0
STAT6	6778	broad.mit.edu	37	12	57492326	57492326	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:57492326G>A	ENST00000300134.3	-	19	2446	c.2121C>T	c.(2119-2121)tcC>tcT	p.S707S	STAT6_ENST00000556155.1_Silent_p.S707S|STAT6_ENST00000537215.2_Silent_p.S597S|STAT6_ENST00000543873.2_Silent_p.S707S|STAT6_ENST00000538913.2_Silent_p.S597S|STAT6_ENST00000454075.3_Silent_p.S707S	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	707					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						ATTCTTCTGGGGAGAGGCCTT	0.542000													4	71					0	0	0.000602	0	0
ZNF197	10168	broad.mit.edu	37	3	44684905	44684905	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:44684905C>T	ENST00000396058.1	+	5	2450	c.2283C>T	c.(2281-2283)ccC>ccT	p.P761P	ZNF197_ENST00000344387.4_Silent_p.P761P|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000383745.2_Intron|RP11-944L7.4_ENST00000457331.1_RNA			O14709	ZN197_HUMAN	zinc finger protein 197	761					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GAGAAAAACCCTTTGAATGCA	0.433000													12	63					0	0	0.000978	0	0
PPL	5493	broad.mit.edu	37	16	4945268	4945268	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:4945268C>T	ENST00000345988.2	-	11	1325	c.1236G>A	c.(1234-1236)ggG>ggA	p.G412G	PPL_ENST00000590782.2_Silent_p.G410G	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	412					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCACCTGCTCCCCCTCAAAGT	0.627000													4	47					0	0	0.000248	0	0
SAV1	60485	broad.mit.edu	37	14	51132059	51132059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:51132059C>T	ENST00000324679.4	-	2	736	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	125					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					TCTCCATTTTCAACAGCAAAA	0.408000													5	25					0	0	0.001168	0	0
SLAMF7	57823	broad.mit.edu	37	1	160718154	160718154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:160718154C>T	ENST00000368043.3	+	2	263	c.226C>T	c.(226-228)Cgt>Tgt	p.R76C	SLAMF7_ENST00000441662.2_Missense_Mutation_p.R76C|SLAMF7_ENST00000444090.2_Missense_Mutation_p.R76C|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000488819.1_3'UTR|SLAMF7_ENST00000359331.4_Missense_Mutation_p.R76C|SLAMF7_ENST00000368042.3_Intron|SLAMF7_ENST00000458602.2_Intron	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	76					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GACCCAAAATCGTAATAGGGA	0.468000													12	26					0	0	0.000978	0	0
OR13C5	138799	broad.mit.edu	37	9	107361157	107361157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:107361157C>T	ENST00000374779.2	-	1	631	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GCTAGAATTTCACAGGTGAAA	0.423000													19	74					0	0	0.007413	0	0
AKAP13	11214	broad.mit.edu	37	15	86076872	86076872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:86076872C>T	ENST00000394518.2	+	4	334	c.239C>T	c.(238-240)cCc>cTc	p.P80L	AKAP13_ENST00000560302.1_Missense_Mutation_p.P80L|AKAP13_ENST00000361243.2_Missense_Mutation_p.P80L	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	80					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAGGGCCTTCCCGTGTTTGTG	0.468000													10	72					0	0	0.008291	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202391804	202391804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:202391804C>T	ENST00000406302.3	+	3	632	c.479C>T	c.(478-480)cCc>cTc	p.P160L	PPP1R12B_ENST00000480184.1_Missense_Mutation_p.P160L|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.P160L|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.P160L	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	160					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GGTGAAGTTCCCTCTGACCTT	0.443000													4	55					0	0	0.001984	0	0
PEG3	5178	broad.mit.edu	37	19	57326320	57326320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:57326320C>T	ENST00000326441.9	-	10	3853	c.3490G>A	c.(3490-3492)Gaa>Aaa	p.E1164K	ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E1038K|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E1040K|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E1164K|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1164					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTGGACATTCATACAGCTGC	0.448000													17	82					0	0	0.004990	0	0
KIAA1191	57179	broad.mit.edu	37	5	175774689	175774689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:175774689G>A	ENST00000298569.4	-	9	1365	c.832C>T	c.(832-834)Cca>Tca	p.P278S	KIAA1191_ENST00000393725.2_Missense_Mutation_p.P259S|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000510164.1_Missense_Mutation_p.P278S	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	278							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		TCCATCACTGGGATGTCCATC	0.572000													12	85					0	0	0.000978	0	0
KIF13B	23303	broad.mit.edu	37	8	28967446	28967446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:28967446G>A	ENST00000524189.1	-	33	4110	c.4072C>T	c.(4072-4074)Cgt>Tgt	p.R1358C		NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1358					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TGGCGCAGACGATCTAAAGTC	0.522000													4	11					0	0	0.000248	0	0
OTOP1	133060	broad.mit.edu	37	4	4198981	4198981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:4198981G>A	ENST00000296358.4	-	5	1604	c.1580C>T	c.(1579-1581)cCa>cTa	p.P527L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	527					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAGGCGGACTGGGCTTGGGCT	0.537000													7	53					0	0	0.003080	0	0
MKRN3	7681	broad.mit.edu	37	15	23811410	23811410	+	Missense_Mutation	SNP	C	C	T	rs146108146		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:23811410C>T	ENST00000314520.3	+	1	957	c.481C>T	c.(481-483)Ccg>Tcg	p.P161S	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	161						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGAAGCCCCCCCGGCTGCATC	0.647000													5	28					0	0	0.001984	0	0
COL4A4	1286	broad.mit.edu	37	2	227945198	227945198	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:227945198C>T	ENST00000396625.3	-	24	1971	c.1764G>A	c.(1762-1764)cgG>cgA	p.R588R	COL4A4_ENST00000329662.7_Silent_p.R588R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	588	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CATGTCCATCCCGACCATGTG	0.458000													6	83					0	0	0.001984	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354085	45354085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:45354085C>T	ENST00000359271.2	+	2	660	c.410C>T	c.(409-411)tCc>tTc	p.S137F		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	137						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GTGCTGGTGTCCCTCTATGAG	0.627000													10	88					0	0	0.006214	0	0
RPH3A	22895	broad.mit.edu	37	12	113307833	113307833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:113307833G>A	ENST00000389385.4	+	10	1282	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.R262Q|RPH3A_ENST00000551052.1_Missense_Mutation_p.R258Q|RPH3A_ENST00000548866.1_Missense_Mutation_p.R213Q|RPH3A_ENST00000543106.2_Missense_Mutation_p.R262Q|RPH3A_ENST00000415485.3_Missense_Mutation_p.R262Q|RPH3A_ENST00000447659.2_Missense_Mutation_p.R213Q	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	262	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GACTCCAGCCGGAGCCCAGCA	0.542000													3	18					0	0	0.000248	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650433	121650433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:121650433C>T	ENST00000393386.2	+	12	1744	c.1333C>T	c.(1333-1335)Cct>Tct	p.P445S	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P445S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	445					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TATTGTGAATCCTGGTAGAGA	0.388000													22	71					0	0	0.002299	0	0
DBN1	1627	broad.mit.edu	37	5	176894001	176894001	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:176894001G>A	ENST00000292385.5	-	8	1233	c.624C>T	c.(622-624)ttC>ttT	p.F208F	DBN1_ENST00000393565.1_Silent_p.F206F|DBN1_ENST00000309007.5_Silent_p.F206F	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	drebrin 1	206					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTCCTGCTCGAACCTGAGCC	0.667000													10	35					0	0	0.008291	0	0
SPTA1	6708	broad.mit.edu	37	1	158624529	158624529	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158624529C>T	ENST00000368148.3	-	21	3088	c.2908G>A	c.(2908-2910)Gct>Act	p.A970T	SPTA1_ENST00000368147.3_Missense_Mutation_p.A970T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	970			A -> D (in dbSNP:rs35948326).		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.A970P(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACTGGTGCAGCCTGTTGTTGC	0.512000													6	35					0	0	0.001168	0	0
ZNF623	9831	broad.mit.edu	37	8	144732612	144732612	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:144732612C>G	ENST00000501748.2	+	1	659	c.570C>G	c.(568-570)caC>caG	p.H190Q	ZNF623_ENST00000526926.1_Missense_Mutation_p.H150Q|ZNF623_ENST00000458270.2_Missense_Mutation_p.H150Q	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACTTCATTCACTATTCAGGTC	0.473000													9	53					0	0	0.004482	0	0
ANGPT4	51378	broad.mit.edu	37	20	896686	896686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:896686C>T	ENST00000381922.3	-	1	274	c.172G>A	c.(172-174)Ggg>Agg	p.G58R	ANGPT4_ENST00000546022.1_Missense_Mutation_p.G58R	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	58					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						ACCTCAGGCCCCGGAGGGCAG	0.617000													15	66					0	0	0.007413	0	0
ZNF761	388561	broad.mit.edu	37	19	53958887	53958887	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:53958887C>T	ENST00000454407.1	+	0	1579							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCATAGACTTCATACTGGAGA	0.433000													21	68					0	0	0.002299	0	0
NSUN6	221078	broad.mit.edu	37	10	18834941	18834941	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:18834941C>A	ENST00000377304.4	-	11	1749	c.1331G>T	c.(1330-1332)aGa>aTa	p.R444I		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	444							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						CATGTCTTCTCTTCTGGCCTC	0.448000													15	119					2.32078e-09	2.63528e-09	0.003163	1	0
WNK3	65267	broad.mit.edu	37	X	54224978	54224978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:54224978G>A	ENST00000354646.2	-	24	5620	c.5182C>T	c.(5182-5184)Cct>Tct	p.P1728S	WNK3_ENST00000375159.2_Missense_Mutation_p.P1728S|WNK3_ENST00000375169.3_Missense_Mutation_p.P1671S	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1671					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AATGGCCCAGGAAATGAAGGG	0.493000													7	12					0	0	0.003080	0	0
MUC4	4585	broad.mit.edu	37	3	195515992	195515992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:195515992C>T	ENST00000463781.3	-	2	2918	c.2459G>A	c.(2458-2460)gGa>gAa	p.G820E	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G820E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	825	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGTGGATATTCCTTCGCTTCC	0.582000													8	63					0	0	0.004482	0	0
CD163L1	283316	broad.mit.edu	37	12	7527908	7527908	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:7527908G>A	ENST00000313599.3	-	11	3027	c.2970C>T	c.(2968-2970)atC>atT	p.I990I	CD163L1_ENST00000416109.2_Silent_p.I1000I|CD163L1_ENST00000396630.1_Silent_p.I990I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	990	SRCR 9.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TATTTCCATGGATACAGGGAG	0.438000													7	28					0	0	0.004482	0	0
DCDC1	341019	broad.mit.edu	37	11	30938508	30938508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:30938508C>T	ENST00000597505.1	-	24	3360	c.3361G>A	c.(3361-3363)Gaa>Aaa	p.E1121K	DCDC1_ENST00000339794.5_Missense_Mutation_p.E200K|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGTGAAGTTTCCTGCCAGGCA	0.418000													6	85					0	0	0.001984	0	0
PHF8	23133	broad.mit.edu	37	X	54048696	54048696	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:54048696C>A	ENST00000338154.6	-	4	793	c.289G>T	c.(289-291)Gac>Tac	p.D97Y	PHF8_ENST00000357988.5_Missense_Mutation_p.D133Y|PHF8_ENST00000322659.8_Missense_Mutation_p.D97Y|PHF8_ENST00000338946.6_Missense_Mutation_p.D97Y	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	133					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CCTCACCTGTCAAAAGTCCTA	0.562000													12	28					3.07112e-06	3.47647e-06	0.000978	1	0
GPR161	23432	broad.mit.edu	37	1	168054872	168054872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:168054872C>T	ENST00000367838.1	-	8	1800	c.1487G>A	c.(1486-1488)gGg>gAg	p.G496E	GPR161_ENST00000537209.1_Missense_Mutation_p.G516E|GPR161_ENST00000367835.1_Missense_Mutation_p.G496E|GPR161_ENST00000539777.1_Missense_Mutation_p.G418E|GPR161_ENST00000361697.2_Missense_Mutation_p.G496E|GPR161_ENST00000271357.5_Missense_Mutation_p.G496E|GPR161_ENST00000546300.1_Missense_Mutation_p.G382E|GPR161_ENST00000367836.1_Missense_Mutation_p.G364E	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	496					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GAAGCCGCCCCCCGGGACAGT	0.587000													25	130					0	0	0.002445	0	0
PPAP2C	8612	broad.mit.edu	37	19	288022	288022	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:288022G>A	ENST00000269812.3	-	2	251	c.202C>T	c.(202-204)Ctt>Ttt	p.L68F	PPAP2C_ENST00000327790.3_Missense_Mutation_p.L89F|PPAP2C_ENST00000434325.2_Missense_Mutation_p.L12F	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	68					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCTTACAAGGATGACGGTG	0.647000													5	56					0	0	0.001984	0	0
ABCB1	5243	broad.mit.edu	37	7	87179798	87179798	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:87179798G>A	ENST00000265724.3	-	12	1627	c.1210C>T	c.(1210-1212)Cga>Tga	p.R404*	ABCB1_ENST00000543898.1_Nonsense_Mutation_p.R340*	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	404	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ACTTCTTTTCGAGATGGGTAA	0.318000													7	51					0	0	0.003080	0	0
CALCRL	10203	broad.mit.edu	37	2	188216844	188216844	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:188216844G>A	ENST00000409998.1	-	14	1906	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Silent_p.F375F|CALCRL_ENST00000392370.3_Silent_p.F375F|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	375						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GCCATACCTGGAAGTGCATAA	0.398000													6	45					0	0	0.001168	0	0
NOL4	8715	broad.mit.edu	37	18	31685048	31685048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:31685048C>T	ENST00000261592.5	-	3	788	c.491G>A	c.(490-492)aGa>aAa	p.R164K	NOL4_ENST00000589544.1_Missense_Mutation_p.R164K|NOL4_ENST00000269185.4_Missense_Mutation_p.R50K|NOL4_ENST00000538587.1_Missense_Mutation_p.R90K|NOL4_ENST00000535475.1_Missense_Mutation_p.R9K	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	164						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TAAATGCATTCTTTTCTGGCA	0.383000													5	53					0	0	0.001168	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967308	142967308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:142967308C>T	ENST00000370494.1	+	1	136	c.106C>T	c.(106-108)Cat>Tat	p.H36Y		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	36							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCGTTATTTTCATGTGGTCAT	0.498000													7	57					0	0	0.003080	0	0
COL4A1	1282	broad.mit.edu	37	13	110829287	110829287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:110829287C>T	ENST00000375820.4	-	34	2935	c.2814G>A	c.(2812-2814)atG>atA	p.M938I		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	938	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCACCTTATCCATGGAGCCAG	0.587000													11	65					0	0	0.000978	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310847	178310847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:178310847C>T	ENST00000322434.3	+	5	1620	c.1394C>T	c.(1393-1395)cCa>cTa	p.P465L		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGAAAAACCATGTAAATGT	0.373000													8	39					0	0	0.006214	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935675	151935675	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:151935675G>A	ENST00000393902.3	-	3	1059	c.492C>T	c.(490-492)atC>atT	p.I164I	MAGEA3_ENST00000370278.3_Silent_p.I164I			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	164	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCAGCTCGATGCCAAAGA	0.532000													25	36					0	0	0.003954	0	0
P2RY10	27334	broad.mit.edu	37	X	78216634	78216634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:78216634G>A	ENST00000171757.2	+	4	897	c.617G>A	c.(616-618)gGa>gAa	p.G206E	P2RY10_ENST00000544091.1_Missense_Mutation_p.G206E	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	206						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GAGCTTGCAGGATTTGTGATC	0.458000													9	17					0	0	0.004482	0	0
VPS13D	55187	broad.mit.edu	37	1	12343669	12343669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:12343669C>T	ENST00000358136.3	+	21	5640	c.5510C>T	c.(5509-5511)tCc>tTc	p.S1837F	VPS13D_ENST00000356315.4_Missense_Mutation_p.S1837F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1837					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGAATCGGCTCCACTGCAGAC	0.483000													10	100					0	0	0.001368	0	0
NLRP13	126204	broad.mit.edu	37	19	56423114	56423114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:56423114G>A	ENST00000588751.1	-	5	2093	c.2069C>T	c.(2068-2070)tCt>tTt	p.S690F	NLRP13_ENST00000342929.3_Missense_Mutation_p.S690F			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	690							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ACTGCTAACAGAAAGCCTTAG	0.393000													9	51					0	0	0.006214	0	0
OR1D2	4991	broad.mit.edu	37	17	2996212	2996212	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:2996212G>A	ENST00000331459.1	-	1	78	c.79C>T	c.(79-81)Ctg>Ttg	p.L27L		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	27					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						ATCCAAAACAGGATCCGCTGC	0.532000													6	79					0	0	0.001168	0	0
NSUN7	79730	broad.mit.edu	37	4	40778076	40778076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:40778076G>A	ENST00000381782.2	+	7	1331	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	NSUN7_ENST00000463952.1_3'UTR|NSUN7_ENST00000316607.5_Missense_Mutation_p.R279Q	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						GACAAATCTCGAAGTCTTGCT	0.348000													7	21					0	0	0.003080	0	0
KIF1C	10749	broad.mit.edu	37	17	4927197	4927197	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:4927197G>A	ENST00000320785.5	+	23	3420	c.3063G>A	c.(3061-3063)ccG>ccA	p.P1021P		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	1021	Pro-rich.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GCCGGCCTCCGAGTCCCCGAA	0.701000													7	18					0	0	0.004482	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343263	69343263	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:69343263G>C	ENST00000305363.4	+	8	948	c.884G>C	c.(883-885)aGa>aCa	p.R295T		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	295	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						GCAGTACATAGAGTTTGTCTC	0.413000													17	202					0	0	0.004007	0	0
KCNN3	3782	broad.mit.edu	37	1	154685942	154685942	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:154685942T>C	ENST00000271915.3	-	7	2212	c.1897A>G	c.(1897-1899)Aag>Gag	p.K633E	KCNN3_ENST00000361147.4_Missense_Mutation_p.K328E|KCNN3_ENST00000358505.2_Missense_Mutation_p.K320E	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	638	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CCACTCACCTTGGAAAGGTCC	0.562000													5	56					0	0	0.001984	0	0
HAUS8	93323	broad.mit.edu	37	19	17186219	17186219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:17186219G>A	ENST00000253669.5	-	1	204	c.14C>T	c.(13-15)tCg>tTg	p.S5L	HAUS8_ENST00000448593.2_Missense_Mutation_p.S5L			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	5					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						GCCTCGCCCCGAGGAATCCGC	0.647000													4	27					0	0	0.000602	0	0
ZNF607	84775	broad.mit.edu	37	19	38189016	38189016	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:38189016G>A	ENST00000355202.4	-	5	2611	c.2016C>T	c.(2014-2016)ccC>ccT	p.P672P	ZNF607_ENST00000395835.3_Silent_p.P671P|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	672					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TACATTTAAAGGGTTTCTCAC	0.363000													7	69					0	0	0.003080	0	0
EEF2	1938	broad.mit.edu	37	19	3976654	3976654	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:3976654G>A	ENST00000309311.6	-	15	2563	c.2475C>T	c.(2473-2475)ttC>ttT	p.F825F		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	825						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGTTGTCGAAGGGGTCTC	0.637000													5	6					0	0	0.000602	0	0
ANO5	203859	broad.mit.edu	37	11	22261116	22261116	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:22261116G>A	ENST00000324559.8	+	9	1081	c.762_splice	c.e9-1	p.G255_splice		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	255						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATCTGCAGGGCCAATATTGG	0.408000													29	83					0	0	0.001786	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128984509	128984509	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:128984509G>A	ENST00000274487.4	+	13	2149	c.2004G>A	c.(2002-2004)agG>agA	p.R668R	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	668	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTGAAGCAAGGGATTGTAATG	0.343000													5	44					0	0	0.000602	0	0
C2orf16	84226	broad.mit.edu	37	2	27799475	27799475	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:27799475A>G	ENST00000408964.2	+	1	87	c.36A>G	c.(34-36)atA>atG	p.I12M		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	12										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGCAAGGTATAAATTATCAAG	0.453000													8	18					0	0	0.008291	0	0
IGLV1-50	28821	broad.mit.edu	37	22	22681955	22681955	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:22681955C>T	ENST00000390291.2	+	0	188																											GGGAGCAGCTCCAACATTGGG	0.612000													57	111					0	0	0.003610	0	0
FAM71A	149647	broad.mit.edu	37	1	212799775	212799775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:212799775C>T	ENST00000294829.3	+	1	1987	c.1556C>T	c.(1555-1557)tCc>tTc	p.S519F	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	519										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AGTTCCGGTTCCAGCAAGGGA	0.542000													15	40					0	0	0.003163	0	0
FNDC1	84624	broad.mit.edu	37	6	159682253	159682253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:159682253C>T	ENST00000297267.9	+	19	5406	c.5206C>T	c.(5206-5208)Cat>Tat	p.H1736Y	FNDC1_ENST00000340366.6_Missense_Mutation_p.H1673Y	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1736	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACAAAATCCTCATGGCTACGG	0.358000													9	58					0	0	0.008291	0	0
C5orf42	65250	broad.mit.edu	37	5	37183083	37183083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:37183083G>A	ENST00000274258.7	-	26	5430	c.1843C>T	c.(1843-1845)Cct>Tct	p.P615S	C5orf42_ENST00000508244.1_Missense_Mutation_p.P1734S|C5orf42_ENST00000425232.2_Missense_Mutation_p.P1734S			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1734										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AGTGCTAAAGGAAGATCTTCT	0.373000													9	57					0	0	0.008291	0	0
RTKN2	219790	broad.mit.edu	37	10	64022525	64022525	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:64022525C>T	ENST00000373789.3	-	2	212	c.116G>A	c.(115-117)tGg>tAg	p.W39*	RTKN2_ENST00000395265.1_Nonsense_Mutation_p.W39*|RTKN2_ENST00000395260.3_Nonsense_Mutation_p.W39*	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	39					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AAGGAGTTTCCATATTCCTTC	0.353000													15	27					0	0	0.003163	0	0
NPAP1	23742	broad.mit.edu	37	15	24921298	24921298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:24921298G>A	ENST00000329468.2	+	1	758	c.284G>A	c.(283-285)aGg>aAg	p.R95K		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTGGCCATCAGGAAGACACCC	0.672000													5	30					0	0	0.000602	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315234	30315234	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:30315234G>A	ENST00000375377.1	-	3	3944	c.3843C>T	c.(3841-3843)tcC>tcT	p.S1281S		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1281										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CGTCCTCCTGGGAGTCGGCAT	0.632000													7	38					0	0	0.001984	0	0
CASR	846	broad.mit.edu	37	3	121980930	121980930	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:121980930G>A	ENST00000498619.1	+	4	1486	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	CASR_ENST00000490131.1_Missense_Mutation_p.E350K|CASR_ENST00000296154.5_Missense_Mutation_p.E350K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	350					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTTTGCCAAGGAGTTTTGGGA	0.507000													6	33					0	0	0.001984	0	0
CST4	1472	broad.mit.edu	37	20	23669436	23669436	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:23669436C>T	ENST00000217423.3	-	1	241	c.171G>A	c.(169-171)aaG>aaA	p.K57K		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	57						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CTTCGGTGGCCTTGTTGTACT	0.592000													10	44					0	0	0.008291	0	0
OIT3	170392	broad.mit.edu	37	10	74673144	74673144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:74673144C>T	ENST00000334011.5	+	6	1087	c.869C>T	c.(868-870)aCc>aTc	p.T290I		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	290	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CTCTTCCTGACCAACACCTCC	0.542000													10	73					0	0	0.006214	0	0
EHMT1	79813	broad.mit.edu	37	9	140622819	140622819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:140622819C>T	ENST00000460843.1	+	4	688	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.P190S|EHMT1_ENST00000462484.1_Missense_Mutation_p.P221S	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	221					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAGTAAAGATCCCAGAGAAGT	0.413000													7	60					0	0	0.003080	0	0
EDNRA	1909	broad.mit.edu	37	4	148453722	148453722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:148453722G>A	ENST00000324300.5	+	4	1128	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000339690.5_Silent_p.*162*|EDNRA_ENST00000511804.1_5'UTR|EDNRA_ENST00000506066.1_Intron|EDNRA_ENST00000358556.4_Intron	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	205					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	AACTGCCATTGAAATTGTCTC	0.453000													17	98					0	0	0.004007	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369185	20369185	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:20369185G>A	ENST00000593655.1	-	0	199																											ACCAAAGTGGGAAACATTGAA	0.408000													4	32					0	0	0.000248	0	0
OR14K1	343170	broad.mit.edu	37	1	247902560	247902560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:247902560C>T	ENST00000283225.2	+	1	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						ATTGTAGTTTCCTATGTGTAC	0.408000													8	49					0	0	0.003080	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19204035	19204035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:19204035G>A	ENST00000375341.3	-	10	1269	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	ALDH4A1_ENST00000538839.1_Missense_Mutation_p.R338C|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.R338C|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.R278C	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	338					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	AAGGCTGAGCGGAGGGTCCCG	0.657000													4	17					0	0	0.000602	0	0
GOT1L1	137362	broad.mit.edu	37	8	37793365	37793365	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:37793365C>T	ENST00000307599.4	-	7	885	c.786G>A	c.(784-786)gtG>gtA	p.V262V	GOT1L1_ENST00000518826.1_Silent_p.V3V	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	262					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CTGCCACCACCACTAGCATCC	0.597000													6	52					0	0	0.003080	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839807	27839807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:27839807G>A	ENST00000356790.2	+	3	629	c.384G>A	c.(382-384)atG>atA	p.M128I		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	128	MAGE.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						AGTACCAAATGAAAGAGCCCA	0.443000													4	8					0	0	0.000248	0	0
DCHS2	54798	broad.mit.edu	37	4	155157247	155157247	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:155157247G>A	ENST00000357232.3	-	25	7191	c.7192C>T	c.(7192-7194)Caa>Taa	p.Q2398*		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2398	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCTTTGGCTTGGACTGTGAGG	0.408000													8	67					0	0	0.004482	0	0
LGSN	51557	broad.mit.edu	37	6	64004938	64004938	+	Missense_Mutation	SNP	C	C	T	rs144073733		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:64004938C>T	ENST00000370658.5	-	2	76	c.43G>A	c.(43-45)Gat>Aat	p.D15N	LGSN_ENST00000370657.4_Missense_Mutation_p.D15N	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	15					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.D15N(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TTGCCTTCATCTCTTGTTGAG	0.343000													10	40					0	0	0.000978	0	0
CPT1B	1375	broad.mit.edu	37	22	51011344	51011344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:51011344G>A	ENST00000360719.2	-	11	1449	c.1312C>T	c.(1312-1314)Ctc>Ttc	p.L438F	CPT1B_ENST00000457250.1_Missense_Mutation_p.L404F|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.L357F|CPT1B_ENST00000405237.3_Missense_Mutation_p.L438F|CPT1B_ENST00000434492.2_Missense_Mutation_p.L235F|CPT1B_ENST00000312108.7_Missense_Mutation_p.L438F|CPT1B_ENST00000395650.2_Missense_Mutation_p.L438F	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	438					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TTGCCATAGAGGCTGAGGCTG	0.552000													5	159					0	0	0.001168	0	0
KCNB1	3745	broad.mit.edu	37	20	47990999	47990999	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:47990999G>A	ENST00000371741.4	-	2	1264	c.1098C>T	c.(1096-1098)gcC>gcT	p.A366A		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	366					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACCAGAAAGAGGCTGGGATGC	0.507000													5	57					0	0	0.000602	0	0
KAZN	23254	broad.mit.edu	37	1	15392187	15392187	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:15392187C>T	ENST00000376030.2	+	8	1454	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F	KAZN_ENST00000503743.1_Missense_Mutation_p.S387F|KAZN_ENST00000400798.2_Missense_Mutation_p.S293F|KAZN_ENST00000400797.3_Missense_Mutation_p.S293F|KAZN_ENST00000361144.5_Missense_Mutation_p.S381F|KAZN_ENST00000422387.2_Missense_Mutation_p.S387F	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	387					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GGATTCGGCTCCATCTCCCGC	0.557000													7	44					0	0	0.001984	0	0
STK33	65975	broad.mit.edu	37	11	8496347	8496347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:8496347G>A	ENST00000447869.1	-	1	1024	c.106C>T	c.(106-108)Cca>Tca	p.P36S	STK33_ENST00000534493.1_5'UTR|STK33_ENST00000396672.1_Missense_Mutation_p.P36S|STK33_ENST00000315204.1_Missense_Mutation_p.P36S|STK33_ENST00000396673.1_Missense_Mutation_p.P36S|STK33_ENST00000358872.3_Intron			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	36						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		ACCAAAACTGGAGGAACCCTT	0.373000													18	78					0	0	0.008871	0	0
CD33	945	broad.mit.edu	37	19	51738413	51738413	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:51738413G>A	ENST00000436584.2	+	4	421	c.364_splice	c.e4-1	p.G122_splice	CD33_ENST00000262262.4_Splice_Site_p.G249_splice|CD33_ENST00000421133.2_Splice_Site_p.G122_splice|CD33_ENST00000391796.3_Splice_Site_p.G249_splice			P20138	CD33_HUMAN	CD33 molecule	249	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TGTCTGCAGGGAAACAAGAGA	0.483000													6	51					0	0	0.003080	0	0
MYH8	4626	broad.mit.edu	37	17	10322008	10322008	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10322008G>A	ENST00000403437.2	-	5	559	c.465C>T	c.(463-465)ccC>ccT	p.P155P	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	155	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGAAGATGTGGGGCGGGGCCT	0.517000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				9	125					0	0	0.006214	0	0
MED9	55090	broad.mit.edu	37	17	17394689	17394689	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:17394689C>T	ENST00000268711.3	+	2	377	c.321C>T	c.(319-321)atC>atT	p.I107I		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	107					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGCCCGGCATCCACCTGAGCC	0.582000													6	46					0	0	0.001168	0	0
PNN	5411	broad.mit.edu	37	14	39650383	39650383	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:39650383C>T	ENST00000216832.4	+	9	1537	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	490	Gln-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		aatcccagtcccaaccAGTAC	0.517000													6	50					0	0	0.001984	0	0
ABHD2	11057	broad.mit.edu	37	15	89738513	89738513	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:89738513C>T	ENST00000352732.5	+	11	1657	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	ABHD2_ENST00000355100.3_Silent_p.F379F|ABHD2_ENST00000565973.1_Silent_p.F379F	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	379						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					ACTTGGGCTTCTTTGAGGGCT	0.547000													4	40					0	0	0.000248	0	0
IFNB1	3456	broad.mit.edu	37	9	21077465	21077465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:21077465C>T	ENST00000380232.2	-	1	478	c.404G>A	c.(403-405)gGa>gAa	p.G135E		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	135					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	CATGAGTTTTCCCCTGGTGAA	0.443000													12	105					0	0	0.000978	0	0
TWSG1	57045	broad.mit.edu	37	18	9396351	9396351	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:9396351G>A	ENST00000262120.5	+	4	488	c.297G>A	c.(295-297)ccG>ccA	p.P99P	TWSG1_ENST00000581641.1_Silent_p.P99P	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	99										breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						TGCATGAACCGATCCCTTCTC	0.443000													6	54					0	0	0.001168	0	0
SNHG14	104472715	broad.mit.edu	37	15	25419986	25419986	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:25419986C>T	ENST00000549301.1	+	0	721				SNHG14_ENST00000441592.2_RNA																							tccctgacttccctcaacaCT	0.517000													7	44					0	0	0.001984	0	0
BLNK	29760	broad.mit.edu	37	10	97983593	97983593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:97983593G>A	ENST00000224337.5	-	6	655	c.514C>T	c.(514-516)Ctt>Ttt	p.L172F	BLNK_ENST00000371176.2_Missense_Mutation_p.L172F|BLNK_ENST00000413476.2_Missense_Mutation_p.L172F|BLNK_ENST00000427367.2_Missense_Mutation_p.L172F	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	172	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TCATCCTCAAGGAGGCCTTTG	0.592000													6	76					0	0	0.001168	0	0
ZNF560	147741	broad.mit.edu	37	19	9577806	9577806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:9577806C>T	ENST00000301480.4	-	10	2030	c.1817G>A	c.(1816-1818)gGa>gAa	p.G606E		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GAAGGCTTTTCCACATTTCTT	0.408000													17	71					0	0	0.007413	0	0
LMO2	4005	broad.mit.edu	37	11	33881075	33881075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:33881075G>A	ENST00000257818.2	-	6	1340	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	LMO2_ENST00000395833.3_Missense_Mutation_p.R102C	NM_005574.3	NP_005565.2	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	102					multicellular organismal development	nucleus	protein binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						TCATAGGCACGAATCCGCTTG	0.478000			T	TRD@	T-ALL								10	25					0	0	0.001368	0	0
ABL2	27	broad.mit.edu	37	1	179078078	179078078	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:179078078G>A	ENST00000502732.1	-	12	2527	c.2324C>T	c.(2323-2325)tCc>tTc	p.S775F	ABL2_ENST00000511413.1_Intron|ABL2_ENST00000344730.3_Intron|ABL2_ENST00000408940.3_Missense_Mutation_p.S739F|ABL2_ENST00000504405.1_Intron|ABL2_ENST00000512653.1_Missense_Mutation_p.S760F|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000367623.4_Missense_Mutation_p.S754F	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	775	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AAAAGGCTTGGAAGTGTCATC	0.527000			T	ETV6	AML								12	134					0	0	0.002450	0	0
IGHV4-34	28395	broad.mit.edu	37	14	106829751	106829751	+	RNA	SNP	A	A	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:106829751A>C	ENST00000390616.2	-	0	242																											AATCCACTCCAGCCCCTTCCC	0.552000													6	68					0	0	0.001984	0	0
CYP1A2	1544	broad.mit.edu	37	15	75047276	75047276	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:75047276G>A	ENST00000343932.4	+	7	1461	c.1398G>A	c.(1396-1398)tgG>tgA	p.W466*		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	466					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	TGGCCAAGTGGGAGATCTTCC	0.587000													7	52					0	0	0.003080	0	0
TRPV5	56302	broad.mit.edu	37	7	142605958	142605958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:142605958C>T	ENST00000265310.1	-	15	2260	c.1912G>A	c.(1912-1914)Gat>Aat	p.D638N		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	638					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGATTCTGATCATTGTGGTTC	0.517000													5	38					0	0	0.001168	0	0
NPAP1	23742	broad.mit.edu	37	15	24921643	24921643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:24921643G>A	ENST00000329468.2	+	1	1103	c.629G>A	c.(628-630)gGa>gAa	p.G210E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTCTGGAGGGAAATGTCTAC	0.612000													4	18					0	0	0.000248	0	0
CCDC14	64770	broad.mit.edu	37	3	123671450	123671450	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:123671450A>G	ENST00000310351.4	-	1	7	c.8T>C	c.(7-9)aTg>aCg	p.M3T	CCDC14_ENST00000489746.1_Intron|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000485727.1_5'UTR|CCDC14_ENST00000433542.2_Intron|CCDC14_ENST00000488653.2_Intron			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	0						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		ACCTGACTCCATAGGCATTCA	0.438000													3	22					0	0	0.000248	0	0
SCNN1A	6337	broad.mit.edu	37	12	6458352	6458352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:6458352C>T	ENST00000358945.3	-	10	1981	c.1541G>A	c.(1540-1542)cGa>cAa	p.R514Q	SCNN1A_ENST00000228916.2_Missense_Mutation_p.R492Q|SCNN1A_ENST00000540037.1_Missense_Mutation_p.R192Q|SCNN1A_ENST00000396966.2_Intron|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R551Q|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R515Q			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	492					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CGAGGGCCATCGTGAGTAACC	0.562000													5	93					0	0	0.001168	0	0
KERA	11081	broad.mit.edu	37	12	91449728	91449728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:91449728C>T	ENST00000266719.3	-	2	578	c.331G>A	c.(331-333)Gga>Aga	p.G111R		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	111					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TTTTCAATTCCGTAGTTGGTT	0.393000													8	62					0	0	0.003080	0	0
RNF220	55182	broad.mit.edu	37	1	45092050	45092050	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:45092050C>T	ENST00000355387.2	+	5	1336	c.886C>T	c.(886-888)Cac>Tac	p.H296Y	RNF220_ENST00000443020.2_Missense_Mutation_p.H57Y|RNF220_ENST00000372247.2_Missense_Mutation_p.H296Y|RNF220_ENST00000361799.2_Missense_Mutation_p.H296Y			Q5VTB9	RN220_HUMAN	ring finger protein 220	296					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CGATGACCTCCACCATTCAGA	0.562000													4	45					0	0	0.000248	0	0
URB2	9816	broad.mit.edu	37	1	229773807	229773807	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:229773807C>T	ENST00000258243.2	+	4	3583	c.3447C>T	c.(3445-3447)tcC>tcT	p.S1149S		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1149						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CGCTGCTCTCCCATGTTGCCC	0.557000													4	48					0	0	0.000248	0	0
XIRP2	129446	broad.mit.edu	37	2	168107274	168107274	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:168107274C>T	ENST00000409195.1	+	9	9461	c.9372C>T	c.(9370-9372)atC>atT	p.I3124I	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.I2902I|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.I3124I|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2949					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAACTTTTATCACAATAGAAT	0.443000													7	42					0	0	0.004482	0	0
ZNF419	79744	broad.mit.edu	37	19	58003528	58003528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:58003528G>A	ENST00000424930.2	+	4	479	c.250G>A	c.(250-252)Gag>Aag	p.E84K	ZNF419_ENST00000354197.4_Missense_Mutation_p.E71K|ZNF419_ENST00000518999.1_Missense_Mutation_p.E84K|ZNF419_ENST00000426954.2_Missense_Mutation_p.E71K|ZNF419_ENST00000415379.2_Intron|ZNF419_ENST00000520540.1_Missense_Mutation_p.E71K|ZNF419_ENST00000221735.7_Missense_Mutation_p.E83K|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000347466.6_Intron|ZNF419_ENST00000442920.2_Missense_Mutation_p.E70K	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	83	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		GGAGTCATGGGAGGAGCCCTT	0.512000													4	44					0	0	0.003080	0	0
GDF10	2662	broad.mit.edu	37	10	48429372	48429372	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:48429372G>A	ENST00000224605.2	-	2	779	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	172					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CGGAAGAGCAGGTGCTGGCGT	0.741000													6	40					0	0	0.004482	0	0
LILRB1	10859	broad.mit.edu	37	19	55146187	55146187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55146187C>T	ENST00000396331.1	+	11	1813	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	LILRB1_ENST00000396327.3_Nonsense_Mutation_p.R487*|LILRB1_ENST00000396332.4_Nonsense_Mutation_p.R486*|LILRB1_ENST00000396317.1_Nonsense_Mutation_p.R470*|LILRB1_ENST00000448689.1_Nonsense_Mutation_p.R486*|LILRB1_ENST00000396321.2_Nonsense_Mutation_p.R486*|LILRB1_ENST00000418536.2_Nonsense_Mutation_p.R470*|LILRB1_ENST00000324602.7_Nonsense_Mutation_p.R487*|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396315.1_Nonsense_Mutation_p.R487*|LILRB1_ENST00000434867.2_Nonsense_Mutation_p.R486*|LILRB1_ENST00000427581.2_Nonsense_Mutation_p.R536*	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	486					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		cctccGACATCGACGTCAGGG	0.597000										HNSCC(37;0.09)			21	47					0	0	0.002299	0	0
LPIN2	9663	broad.mit.edu	37	18	2934435	2934435	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:2934435T>G	ENST00000261596.4	-	8	1420	c.1182A>C	c.(1180-1182)agA>agC	p.R394S		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	394					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GGTGTTGGCTTCTTTTGTGAA	0.378000													3	24					0	0	0.000248	0	0
SERPINA3	12	broad.mit.edu	37	14	95085577	95085577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:95085577G>A	ENST00000553947.1	+	6	1652	c.764G>A	c.(763-765)aGg>aAg	p.R255K	SERPINA3_ENST00000393078.3_Missense_Mutation_p.R230K|SERPINA3_ENST00000467132.1_Missense_Mutation_p.R230K|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000482740.1_Missense_Mutation_p.R12K|SERPINA3_ENST00000393080.4_Missense_Mutation_p.R230K			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	230					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CATCAGTCAAGGTTCTACTTG	0.527000													5	52					0	0	0.000602	0	0
ZNF462	58499	broad.mit.edu	37	9	109686529	109686529	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:109686529C>T	ENST00000277225.5	+	3	625	c.336C>T	c.(334-336)ttC>ttT	p.F112F	ZNF462_ENST00000457913.1_Silent_p.F112F			Q96JM2	ZN462_HUMAN	zinc finger protein 462	112					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AATGCAAGTTCTGTGTACGCT	0.478000													4	45					0	0	0.000602	0	0
CSMD1	64478	broad.mit.edu	37	8	2818669	2818669	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:2818669G>A	ENST00000602557.1	-	63	10254	c.9699C>T	c.(9697-9699)ggC>ggT	p.G3233G	CSMD1_ENST00000602723.1_Silent_p.G3056G|CSMD1_ENST00000542608.1_Silent_p.G3055G|CSMD1_ENST00000520002.1_Silent_p.G3233G|CSMD1_ENST00000537824.1_Silent_p.G3232G|CSMD1_ENST00000400186.3_Silent_p.G3056G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3233	Sushi 27.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTACCTCATAGCCTCTGGAGC	0.343000													5	18					0	0	0.001168	0	0
FRRS1	391059	broad.mit.edu	37	1	100206365	100206365	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:100206365G>A	ENST00000414213.1	-	6	1161	c.560C>T	c.(559-561)tCc>tTc	p.S187F	FRRS1_ENST00000287474.5_Missense_Mutation_p.S187F			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	187					electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		GGTTAAGTGGGAAACGGGAGG	0.433000													8	96					0	0	0.008291	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858626	9858626	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:9858626G>A	ENST00000396573.2	-	14	3084	c.2775C>T	c.(2773-2775)atC>atT	p.I925I	GRIN2A_ENST00000562109.1_Silent_p.I925I|GRIN2A_ENST00000396575.2_Silent_p.I925I|GRIN2A_ENST00000330684.3_Silent_p.I925I|GRIN2A_ENST00000404927.2_Silent_p.I925I|GRIN2A_ENST00000535259.1_Silent_p.I768I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	925					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AACCTCTTTGGATGAAGTCAG	0.448000													17	146					0	0	0.004990	0	0
PSG5	5673	broad.mit.edu	37	19	43689184	43689184	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:43689184C>T	ENST00000404580.1	-	2	268	c.180G>A	c.(178-180)caG>caA	p.Q60Q	PSG5_ENST00000342951.6_Silent_p.Q60Q|PSG5_ENST00000407356.1_Silent_p.Q60Q|PSG5_ENST00000599812.1_Silent_p.Q60Q|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000366175.3_Silent_p.Q60Q|PSG5_ENST00000407568.1_Silent_p.Q60Q			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	60	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CAGCAAGATTCTGAGGCAAAT	0.448000													49	71					0	0	0.003610	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725454	106725454	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:106725454G>A	ENST00000390609.2	-	0	176																											GGACCCCCCAGGCTGTACCAA	0.587000													9	96					0	0	0.006214	0	0
MAG	4099	broad.mit.edu	37	19	35791122	35791122	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:35791122G>A	ENST00000361922.4	+	6	935	c.785G>A	c.(784-786)gGg>gAg	p.G262E	MAG_ENST00000537831.2_Missense_Mutation_p.G237E|MAG_ENST00000392213.3_Missense_Mutation_p.G262E	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	262	Ig-like C2-type 2.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTGCTCTGTGGGGCTGACAGC	0.677000													3	5					0	0	0.004672	0	0
OR4C6	219432	broad.mit.edu	37	11	55432969	55432969	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:55432969G>A	ENST00000314259.3	+	1	356	c.327G>A	c.(325-327)ggG>ggA	p.G109G		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTGGTGTGGGGATCATCCTCC	0.547000													16	32					0	0	0.004007	0	0
PRICKLE4	29964	broad.mit.edu	37	6	41753099	41753099	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:41753099G>A	ENST00000359201.5	+	5	992	c.403G>A	c.(403-405)Gag>Aag	p.E135K	PRICKLE4_ENST00000394263.1_Missense_Mutation_p.E135K|PRICKLE4_ENST00000394260.1_Missense_Mutation_p.E95K|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.E95K|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.E135K|PRICKLE4_ENST00000463606.1_3'UTR			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	95	LIM zinc-binding 1.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAAGCCAGGGGAGTACGGAGT	0.597000													8	18					0	0	0.004482	0	0
ARMC4	55130	broad.mit.edu	37	10	28284008	28284008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:28284008C>T	ENST00000305242.5	-	2	156	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	22							binding	p.E22K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGGGTGATTTCGAGGATTCCA	0.453000													5	45					0	0	0.003080	0	0
KCNH1	3756	broad.mit.edu	37	1	210856679	210856679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:210856679C>T	ENST00000367007.4	-	11	3002	c.2833G>A	c.(2833-2835)Gaa>Aaa	p.E945K	KCNH1_ENST00000271751.4_Missense_Mutation_p.E972K	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	972	CAD (involved in subunit assembly) (By similarity).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTCGATATTTCAAACAACTCC	0.433000													5	103					0	0	0.001168	0	0
TAF4	6874	broad.mit.edu	37	20	60582625	60582625	+	Missense_Mutation	SNP	G	G	A	rs6089604		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:60582625G>A	ENST00000252996.3	-	6	1951	c.1952C>T	c.(1951-1953)cCt>cTt	p.P651L		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	651	TAFH.		P -> L (in dbSNP:rs6089604).		interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CACAAGGTAAGGTTGAGGTGA	0.478000													10	106					0	0	0.008291	0	0
SDHA	6389	broad.mit.edu	37	5	225538	225538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:225538G>A	ENST00000264932.6	+	4	432	c.317G>A	c.(316-318)gGa>gAa	p.G106E	SDHA_ENST00000504309.1_Missense_Mutation_p.G106E|SDHA_ENST00000510361.1_Intron	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	106					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TTCCAGGGAGGAATCAATGCT	0.572000									Familial Paragangliomas				7	39					0	0	0.003080	0	0
HNF4G	3174	broad.mit.edu	37	8	76471257	76471257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:76471257G>A	ENST00000396423.2	+	8	1202	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	HNF4G_ENST00000354370.1_Missense_Mutation_p.E323K	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	323					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TCTACTTCAGGAAATGCTATT	0.338000													4	66					0	0	0.000248	0	0
GP2	2813	broad.mit.edu	37	16	20335565	20335565	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:20335565G>A	ENST00000302555.5	-	3	257	c.108C>T	c.(106-108)ccC>ccT	p.P36P	GP2_ENST00000381360.5_Intron|GP2_ENST00000381362.4_Silent_p.P36P|GP2_ENST00000341642.5_Intron			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	36						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGGCTTCAATGGGGTTTCCAT	0.522000													5	32					0	0	0.001168	0	0
OR6K6	128371	broad.mit.edu	37	1	158725174	158725174	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158725174G>A	ENST00000368144.2	+	1	665	c.569G>A	c.(568-570)tGg>tAg	p.W190*		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					GAGATTGCATGGATTTCCACC	0.488000													6	75					0	0	0.001984	0	0
OR9I1	219954	broad.mit.edu	37	11	57886847	57886847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:57886847C>T	ENST00000302610.1	-	1	69	c.70G>A	c.(70-72)Gag>Aag	p.E24K	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				AGGGGAATCTCCAATTTGGGG	0.443000													5	35					0	0	0.000602	0	0
C8B	732	broad.mit.edu	37	1	57417813	57417813	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:57417813C>T	ENST00000543257.1	-	6	984	c.418G>A	c.(418-420)Gat>Aat	p.D140N	C8B_ENST00000371237.4_Missense_Mutation_p.D192N|C8B_ENST00000535057.1_Missense_Mutation_p.D130N	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	192	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TACCTGTGATCAAGAACTGGG	0.458000													17	101					0	0	0.004990	0	0
C1orf127	148345	broad.mit.edu	37	1	11008428	11008428	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:11008428G>A	ENST00000377004.4	-	12	1763	c.1764C>T	c.(1762-1764)ttC>ttT	p.F588F	C1orf127_ENST00000377008.4_Silent_p.F421F	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	439										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCAATGGCTGGAACTCCTCAC	0.647000													5	33					0	0	0.000602	0	0
AR	367	broad.mit.edu	37	X	66765853	66765853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:66765853G>A	ENST00000374690.3	+	1	1389	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	AR_ENST00000396044.3_Missense_Mutation_p.E289K|AR_ENST00000504326.1_Missense_Mutation_p.E289K|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	287	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.E289K(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CCCATTGGCCGAATGCAAAGG	0.562000									Androgen Insensitivity Syndrome				4	15					0	0	0.000602	0	0
ZNF285	26974	broad.mit.edu	37	19	44891757	44891757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:44891757G>A	ENST00000330997.4	-	4	714	c.650C>T	c.(649-651)tCa>tTa	p.S217L	ZNF285_ENST00000591679.1_Missense_Mutation_p.S224L|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.S217L	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TTCAACCGTTGATTTCATACC	0.463000													17	50					0	0	0.008871	0	0
FMO1	2326	broad.mit.edu	37	1	171236709	171236709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:171236709C>T	ENST00000354841.4	+	2	291	c.160C>T	c.(160-162)Ctc>Ttc	p.L54F	FMO1_ENST00000402921.2_Intron|FMO1_ENST00000367750.3_Missense_Mutation_p.L54F|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	54					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAGAGCCAGTCTCTACAAGTC	0.433000													6	80					0	0	0.003080	0	0
NF1	4763	broad.mit.edu	37	17	29684035	29684035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:29684035C>T	ENST00000358273.4	+	53	8179	c.7796C>T	c.(7795-7797)tCt>tTt	p.S2599F	NF1_ENST00000356175.3_Missense_Mutation_p.S2578F|NF1_ENST00000444181.2_Missense_Mutation_p.S392F|NF1_ENST00000417592.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2599					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTTCAGTGTCTGAATCAAAT	0.423000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			12	92					0	0	0.001855	0	0
TXNDC16	57544	broad.mit.edu	37	14	52985926	52985926	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:52985926T>A	ENST00000281741.4	-	7	849	c.478A>T	c.(478-480)Att>Ttt	p.I160F	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	160					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GAGAATATAATATTTGCTTTT	0.323000													6	54					0	0	0.001984	0	0
KCNQ4	9132	broad.mit.edu	37	1	41300651	41300651	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:41300651C>T	ENST00000347132.5	+	12	1708	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Silent_p.F488F	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	542					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TTCTCAAGTTCCTGGTGGCCA	0.557000													10	50					0	0	0.008291	0	0
ITGA5	3678	broad.mit.edu	37	12	54798523	54798523	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:54798523G>A	ENST00000293379.4	-	13	1642	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	461					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CGGCCTCCTCGAAGGGCAGAG	0.592000											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	51					0	0	0.002450	0	0
ACSS1	84532	broad.mit.edu	37	20	24993469	24993469	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:24993469G>A	ENST00000537502.1	-	9	2968	c.1437C>T	c.(1435-1437)acC>acT	p.T479T	ACSS1_ENST00000323482.4_Silent_p.T562T|ACSS1_ENST00000542618.1_Silent_p.T441T|ACSS1_ENST00000432802.2_Intron			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	562					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CAATCTCTGCGGTCCCCAGCC	0.597000													5	54					0	0	0.000602	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53675298	53675298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:53675298C>T	ENST00000262135.4	-	18	2866	c.2773G>A	c.(2773-2775)Gga>Aga	p.G925R	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.G925R|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.G925R|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.G925R	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	925					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GTTATTGATCCACTTGGTGGA	0.393000													48	386					0	0	0.003610	0	0
MYH7	4625	broad.mit.edu	37	14	23899822	23899822	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:23899822C>T	ENST00000355349.3	-	11	1108	c.946G>A	c.(946-948)Gga>Aga	p.G316R		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	316	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTGGTCTCTCCTTGGGAGATG	0.562000													6	32					0	0	0.003080	0	0
FLG	2312	broad.mit.edu	37	1	152281478	152281478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:152281478C>T	ENST00000368799.1	-	3	5919	c.5884G>A	c.(5884-5886)Gaa>Aaa	p.E1962K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1962	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGTCTTCGTGATGGGAC	0.567000									Ichthyosis				31	322					0	0	0.002445	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667716	106667716	+	RNA	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:106667716C>T	ENST00000390606.2	-	0	277																											TACCACCATTCCAATTAATAC	0.517000													11	70					0	0	0.001368	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731997	140731997	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140731997C>T	ENST00000523390.1	+	1	2170	c.2170C>T	c.(2170-2172)Caa>Taa	p.Q724*	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTGCTTTCAAACCGGTCT	0.582000													17	51					0	0	0.008871	0	0
RHBDL2	54933	broad.mit.edu	37	1	39384781	39384781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:39384781C>T	ENST00000289248.2	-	2	1112	c.104G>A	c.(103-105)gGa>gAa	p.G35E	RHBDL2_ENST00000540558.1_Missense_Mutation_p.G35E|RHBDL2_ENST00000538156.1_Missense_Mutation_p.G102E|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Missense_Mutation_p.G115E|RHBDL2_ENST00000372990.1_Missense_Mutation_p.G35E			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	35					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			ATCTTTACCTCCCCCATCCTC	0.483000													10	99					0	0	0.006214	0	0
ITIH2	3698	broad.mit.edu	37	10	7772024	7772024	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:7772024G>A	ENST00000358415.4	+	12	1555	c.1389G>A	c.(1387-1389)aaG>aaA	p.K463K	ITIH2_ENST00000379587.4_Silent_p.K452K	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	463	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ATTTTTTGAAGAGACTGTCCA	0.363000													6	65					0	0	0.001984	0	0
EPHA4	2043	broad.mit.edu	37	2	222365857	222365857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:222365857C>T	ENST00000281821.2	-	4	900	c.859G>A	c.(859-861)Gat>Aat	p.D287N	EPHA4_ENST00000409854.1_Missense_Mutation_p.D287N|EPHA4_ENST00000392071.4_Missense_Mutation_p.D236N|EPHA4_ENST00000409938.1_Missense_Mutation_p.D287N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	287	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CAGGTGGCATCCGTGGAGAGA	0.488000													6	22					0	0	0.001984	0	0
OR6M1	390261	broad.mit.edu	37	11	123676604	123676604	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:123676604G>A	ENST00000309154.2	-	1	491	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AACACAGACAGGAAGGCTCCC	0.507000													11	21					0	0	0.000978	0	0
OR1J2	26740	broad.mit.edu	37	9	125273119	125273119	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:125273119C>T	ENST00000335302.5	+	1	39	c.39C>T	c.(37-39)ctC>ctT	p.L13L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CCGAGTTCCTCCTTCTGGGCC	0.547000													12	88					0	0	0.001855	0	0
IGSF3	3321	broad.mit.edu	37	1	117156498	117156498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:117156498G>A	ENST00000369486.3	-	4	1486	c.721C>T	c.(721-723)Cag>Tag	p.Q241*	IGSF3_ENST00000369483.1_Nonsense_Mutation_p.Q241*|IGSF3_ENST00000318837.6_Nonsense_Mutation_p.Q241*	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	241	Ig-like C2-type 2.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AATTCGCCCTGGTCAGAAGGC	0.627000													5	29					0	0	0.000602	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147811	100147811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:100147811G>A	ENST00000231461.5	-	5	1130	c.820C>T	c.(820-822)Cct>Tct	p.P274S		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	274					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CTTTTGATAGGAACTTTGTTG	0.378000													4	47					0	0	0.000602	0	0
CYP2C8	1558	broad.mit.edu	37	10	96802823	96802823	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:96802823C>T	ENST00000371270.3	-	7	1067	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	CYP2C8_ENST00000535898.1_Missense_Mutation_p.E223K|CYP2C8_ENST00000539050.1_Missense_Mutation_p.E239K	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	325					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TCAATCTCTTCCTGGACTTTA	0.423000													5	44					0	0	0.000602	0	0
TARBP1	6894	broad.mit.edu	37	1	234565931	234565931	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:234565931G>A	ENST00000040877.1	-	15	2510	c.2511C>T	c.(2509-2511)ccC>ccT	p.P837P		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	837					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AGCTTTCCAGGGGCCCAGCAT	0.572000													7	133					0	0	0.001984	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120449	38120449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:38120449C>T	ENST00000406386.3	+	7	2141	c.1886C>T	c.(1885-1887)gCc>gTc	p.A629V	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	629					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACATCCTGTGCCCAGCGGGAC	0.597000													11	52					0	0	0.001368	0	0
TACR3	6870	broad.mit.edu	37	4	104510988	104510988	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:104510988C>T	ENST00000304883.2	-	5	1389	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	417						integral to plasma membrane	tachykinin receptor activity	p.D417N(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GTGTCTGCATCGTTGGGGTCA	0.527000													38	104					0	0	0.002522	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644244	37644244	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:37644244A>T	ENST00000356958.4	-	5	815	c.557T>A	c.(556-558)tTt>tAt	p.F186Y	ZNF585A_ENST00000355533.2_Missense_Mutation_p.F131Y|ZNF585A_ENST00000392157.2_Missense_Mutation_p.F131Y|ZNF585A_ENST00000292841.5_Missense_Mutation_p.F131Y|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTGCATTTAAAGGGTTTCTC	0.403000													11	45					0	0	0.001855	0	0
NAIP	4671	broad.mit.edu	37	5	70308397	70308397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:70308397C>T	ENST00000517649.1	-	4	636	c.346G>A	c.(346-348)Gac>Aac	p.D116N	NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.D116N|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.D116N	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	116					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CTCTTGTGGTCTTCTATGGGG	0.488000													5	77					0	0	0.001168	0	0
MXRA5	25878	broad.mit.edu	37	X	3241047	3241047	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:3241047C>T	ENST00000217939.6	-	5	2833	c.2679G>A	c.(2677-2679)gaG>gaA	p.E893E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	893						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCTCAGTCTTCTCGGAAAGGT	0.478000													9	52					0	0	0.004482	0	0
REG1P	5969	broad.mit.edu	37	2	79364056	79364056	+	RNA	SNP	G	G	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:79364056G>T	ENST00000444841.1	-	0	285																											CAGTAGAGCTGTTGGAGAAGA	0.493000													7	33					1.12685e-05	1.27439e-05	0.004482	1	0
OR2B6	26212	broad.mit.edu	37	6	27925818	27925818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:27925818C>T	ENST00000244623.1	+	1	800	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCGCCCAGCTCCAAGGACCAA	0.453000													7	86					0	0	0.003080	0	0
ZNF827	152485	broad.mit.edu	37	4	146806916	146806916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:146806916G>A	ENST00000508784.1	-	4	1888	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	ZNF827_ENST00000513320.1_Missense_Mutation_p.S204F|ZNF827_ENST00000379448.4_Missense_Mutation_p.S554F			Q17R98	ZN827_HUMAN	zinc finger protein 827	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CACATACTCGGAGGGGTCTTT	0.522000													6	59					0	0	0.003080	0	0
ELF3	1999	broad.mit.edu	37	1	201982372	201982372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:201982372C>T	ENST00000359651.3	+	6	3943	c.751C>T	c.(751-753)Cga>Tga	p.R251*	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Nonsense_Mutation_p.R251*|ELF3_ENST00000367283.3_Nonsense_Mutation_p.R251*			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	251					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						AGGCCGGCCCCGAAAGCTGAG	0.637000													11	41					0	0	0.000978	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887503	12887503	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:12887503C>T	ENST00000535591.1	-	3	549	c.354G>A	c.(352-354)agG>agA	p.R118R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	118										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CATCCAGAGTCCTGTTCTTGA	0.478000													60	260					0	0	0.003610	0	0
RPTN	126638	broad.mit.edu	37	1	152127432	152127432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:152127432C>T	ENST00000316073.3	-	3	2207	c.2143G>A	c.(2143-2145)Gat>Aat	p.D715N		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	715	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTGTCTATCCCAAGTTTGA	0.562000													11	171					0	0	0.000978	0	0
GTF3C1	2975	broad.mit.edu	37	16	27556757	27556757	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:27556757G>A	ENST00000356183.4	-	2	324	c.309C>T	c.(307-309)atC>atT	p.I103I	GTF3C1_ENST00000561623.1_Silent_p.I103I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	103						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TATTCTCTAAGATCATATGAA	0.443000													14	33					0	0	0.002450	0	0
INPP5B	3633	broad.mit.edu	37	1	38338742	38338742	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:38338742G>A	ENST00000373023.2	-	19	2380	c.2287C>T	c.(2287-2289)Ctg>Ttg	p.L763L	INPP5B_ENST00000373026.1_Silent_p.L763L|INPP5B_ENST00000373027.1_Silent_p.L519L|INPP5B_ENST00000373024.3_Silent_p.L683L	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	763					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCAAGTGCAGAACCAGAATG	0.443000													22	88					0	0	0.003330	0	0
KRT4	3851	broad.mit.edu	37	12	53205630	53205630	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:53205630C>T	ENST00000293774.4	-	2	1086	c.816G>A	c.(814-816)caG>caA	p.Q272Q	KRT4_ENST00000458244.2_Silent_p.Q178Q|KRT4_ENST00000551956.1_Silent_p.Q198Q			B4DRS2	B4DRS2_HUMAN	keratin 4	198						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						AGGTATCTAGCTGCTTCCTCA	0.547000													4	57					0	0	0.000248	0	0
CAPN9	10753	broad.mit.edu	37	1	230914722	230914722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:230914722G>A	ENST00000354537.1	+	8	961	c.879G>A	c.(877-879)atG>atA	p.M293I	CAPN9_ENST00000366666.2_Missense_Mutation_p.M256I|RP11-99J16__A.2_ENST00000452640.1_RNA|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.M319I|RP11-99J16__A.2_ENST00000428480.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	319	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GCTGCAGGATGGCATTTAAGG	0.483000													6	25					0	0	0.001984	0	0
NT5E	4907	broad.mit.edu	37	6	86201773	86201773	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:86201773G>A	ENST00000257770.3	+	8	1488	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q	NT5E_ENST00000369651.3_Missense_Mutation_p.R430Q	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	480					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	ACCAAGTGTCGAGTGCCCAGT	0.428000													22	74					0	0	0.002299	0	0
EHBP1	23301	broad.mit.edu	37	2	63101536	63101536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:63101536C>T	ENST00000263991.5	+	11	1641	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S	EHBP1_ENST00000354487.3_Missense_Mutation_p.P352S|EHBP1_ENST00000405289.1_Missense_Mutation_p.P352S|EHBP1_ENST00000431489.1_Missense_Mutation_p.P352S|EHBP1_ENST00000405015.3_Missense_Mutation_p.P352S	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	387						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TTTGGTAAATCCTGTTCAAGA	0.363000													8	60					0	0	0.003080	0	0
GABRQ	55879	broad.mit.edu	37	X	151821633	151821633	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:151821633C>T	ENST00000370306.2	+	9	1808	c.1788C>T	c.(1786-1788)ttC>ttT	p.F596F		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	596						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTCTCCTTCGATCTCTTTA	0.527000													7	16					0	0	0.001984	0	0
NRSN1	140767	broad.mit.edu	37	6	24146025	24146025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:24146025G>A	ENST00000378491.4	+	4	740	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	147					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						CTCCAAAGAAGAAAAATTCCT	0.502000													8	59					0	0	0.006214	0	0
ITGAE	3682	broad.mit.edu	37	17	3662736	3662736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:3662736C>T	ENST00000263087.4	-	8	924	c.826G>A	c.(826-828)Ggg>Agg	p.G276R		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	276	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GTGACACTCCCCACTTGAGTG	0.557000													6	54					0	0	0.003080	0	0
OR51B2	79345	broad.mit.edu	37	11	5345273	5345273	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:5345273C>T	ENST00000328813.2	-	1	309	c.255G>A	c.(253-255)gtG>gtA	p.V85V	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTGTGATTCACCCATAGGA	0.502000													13	34					0	0	0.001368	0	0
WWP1	11059	broad.mit.edu	37	8	87393069	87393069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:87393069C>T	ENST00000517970.1	+	4	492	c.185C>T	c.(184-186)cCa>cTa	p.P62L	WWP1_ENST00000265428.4_Missense_Mutation_p.P62L|WWP1_ENST00000341922.2_Missense_Mutation_p.P62L|WWP1_ENST00000523863.1_3'UTR|WWP1_ENST00000349423.2_Intron	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	62	C2.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TCTTCTAATCCAAAATGGGAT	0.323000													4	20					0	0	0.000248	0	0
OR4F6	390648	broad.mit.edu	37	15	102346165	102346165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:102346165G>A	ENST00000328882.4	+	1	264	c.243G>A	c.(241-243)atG>atA	p.M81I		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTCCCAAGATGATTTATGACC	0.478000													19	149					0	0	0.007413	0	0
TRANK1	9881	broad.mit.edu	37	3	36896923	36896923	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:36896923G>A	ENST00000429976.2	-	12	4405	c.4158C>T	c.(4156-4158)tcC>tcT	p.S1386S	TRANK1_ENST00000428977.2_Silent_p.S836S|TRANK1_ENST00000301807.6_Silent_p.S836S			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1386					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCTCGTGGATGGACCATGGGA	0.498000													14	95					0	0	0.003163	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30950957	30950957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:30950957C>T	ENST00000402321.1	-	3	1572	c.1255G>A	c.(1255-1257)Gat>Aat	p.D419N	GAL3ST1_ENST00000338911.5_Missense_Mutation_p.D419N|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.D419N|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.D419N|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.D419N|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.D419N|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.D419N			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	419					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CGCAGGAAATCGCGAATGAAC	0.682000													7	20					0	0	0.003080	0	0
OR6N1	128372	broad.mit.edu	37	1	158736211	158736211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158736211C>T	ENST00000335094.2	-	1	281	c.262G>A	c.(262-264)Gag>Aag	p.E88K		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GTCTTTTTCTCACTGAGCAAG	0.488000													14	53					0	0	0.002450	0	0
ZBBX	79740	broad.mit.edu	37	3	167045777	167045777	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:167045777C>T	ENST00000392766.2	-	11	1155	c.815G>A	c.(814-816)gGa>gAa	p.G272E	ZBBX_ENST00000455345.2_Missense_Mutation_p.G272E|ZBBX_ENST00000392764.1_Missense_Mutation_p.G243E|ZBBX_ENST00000307529.5_Missense_Mutation_p.G272E|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Missense_Mutation_p.G272E	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	272						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATCATGATTTCCGGTTCTCCA	0.383000													12	65					0	0	0.002450	0	0
ZNF521	25925	broad.mit.edu	37	18	22806712	22806712	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:22806712G>A	ENST00000361524.3	-	4	1318	c.1170C>T	c.(1168-1170)acC>acT	p.T390T	ZNF521_ENST00000584787.1_Silent_p.T170T|ZNF521_ENST00000538137.2_Silent_p.T390T	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	390					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCATGTCAGGGGTTTGTTGAG	0.493000			T	PAX5	ALL								5	56					0	0	0.001984	0	0
AMICA1	120425	broad.mit.edu	37	11	118083240	118083240	+	Missense_Mutation	SNP	G	G	A	rs150593418		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:118083240G>A	ENST00000292067.7	-	2	491	c.50C>T	c.(49-51)cCg>cTg	p.P17L	AMICA1_ENST00000356289.5_Missense_Mutation_p.P27L|AMICA1_ENST00000533261.1_Missense_Mutation_p.P27L|AMICA1_ENST00000526620.1_5'UTR	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	27					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TAGCTCAGGCGGGGAAACATT	0.408000													5	25					0	0	0.001984	0	0
ADC	113451	broad.mit.edu	37	1	33562307	33562307	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:33562307G>A	ENST00000294517.6	+	9	1340		c.e9-1		ADC_ENST00000358680.3_Splice_Site|ADC_ENST00000398167.1_Splice_Site|ADC_ENST00000373441.1_Splice_Site|ADC_ENST00000484656.1_Splice_Site|ADC_ENST00000373440.1_Splice_Site|ADC_ENST00000373443.3_Splice_Site	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase						polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	CCTCCTACCAGATTGCTTCCG	0.502000													11	33					0	0	0.000978	0	0
MON2	23041	broad.mit.edu	37	12	62938768	62938768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:62938768C>T	ENST00000393630.3	+	22	2951	c.2560C>T	c.(2560-2562)Cct>Tct	p.P854S	MON2_ENST00000280379.6_Missense_Mutation_p.P854S|MON2_ENST00000552738.1_Missense_Mutation_p.P830S|MON2_ENST00000552115.1_Missense_Mutation_p.P853S|MON2_ENST00000546600.1_Missense_Mutation_p.P853S|MON2_ENST00000393632.2_Missense_Mutation_p.P853S|MON2_ENST00000393629.2_Missense_Mutation_p.P853S	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	854					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TAACCATGATCCTCCACTCTC	0.348000													5	32					0	0	0.001168	0	0
FRAS1	80144	broad.mit.edu	37	4	79369304	79369304	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:79369304G>A	ENST00000264895.6	+	44	6548	c.6108G>A	c.(6106-6108)ggG>ggA	p.G2036G		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2035					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCCTAGCTGGGCTGGTTGGGT	0.542000													5	45					0	0	0.001168	0	0
DRD1	1812	broad.mit.edu	37	5	174868801	174868801	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:174868801C>T	ENST00000393752.2	-	2	2294	c.1302G>A	c.(1300-1302)aaG>aaA	p.K434K		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	434					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	TGGGTTGGATCTTCTCCAGAG	0.527000													13	89					0	0	0.003163	0	0
MEI1	150365	broad.mit.edu	37	22	42120046	42120046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:42120046G>A	ENST00000401548.3	+	7	873	c.833G>A	c.(832-834)gGa>gAa	p.G278E	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_Missense_Mutation_p.G18E|MEI1_ENST00000400107.1_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	278							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGGTCATCAGGAAATACCTCA	0.463000													6	26					0	0	0.001168	0	0
RP11-298I3.5	0	broad.mit.edu	37	14	23416932	23416932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:23416932G>A	ENST00000555074.1	-	3	204	c.205C>T	c.(205-207)Ccg>Tcg	p.P69S	HAUS4_ENST00000555367.1_Silent_p.L194L|HAUS4_ENST00000555986.1_Silent_p.L194L|HAUS4_ENST00000206474.7_Silent_p.L239L|HAUS4_ENST00000347758.2_Silent_p.L113L|HAUS4_ENST00000541587.1_Silent_p.L239L|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000397409.4_Silent_p.L113L|HAUS4_ENST00000342454.8_Silent_p.L194L|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000490506.1_Silent_p.L115L|RP11-298I3.1_ENST00000548322.1_RNA																							TGAGGCAGCGGAGAAGCACCT	0.502000													6	57					0	0	0.001984	0	0
ITIH2	3698	broad.mit.edu	37	10	7759688	7759688	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:7759688G>A	ENST00000358415.4	+	6	733	c.567G>A	c.(565-567)agG>agA	p.R189R	ITIH2_ENST00000379587.4_Silent_p.R178R|ITIH2_ENST00000480387.1_3'UTR	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	189					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGAAGTGGAGGAAGCTGGGCT	0.527000													10	94					0	0	0.008291	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8436237	8436237	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:8436237C>T	ENST00000301455.2	+	6	1041	c.870C>T	c.(868-870)tcC>tcT	p.S290S	ANGPTL4_ENST00000541807.1_Silent_p.S123S|ANGPTL4_ENST00000393962.2_Silent_p.S252S	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	290	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						TGCAGTTCTCCGTGCACCTGG	0.692000													8	22					0	0	0.003080	0	0
MAP1A	4130	broad.mit.edu	37	15	43820735	43820735	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:43820735A>C	ENST00000382031.1	+	5	7809	c.7778A>C	c.(7777-7779)gAg>gCg	p.E2593A	MAP1A_ENST00000300231.5_Missense_Mutation_p.E2355A|MAP1A_ENST00000399453.1_Missense_Mutation_p.E2355A			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2355						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GTTCCCTCTGAGGATTGTGCA	0.632000													5	32					0	0	0.001168	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227300563	227300563	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:227300563C>T	ENST00000366769.3	-	13	2990	c.1699G>A	c.(1699-1701)Gac>Aac	p.D567N	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D567N|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D567N|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D567N|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D567N|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D567N|CDC42BPA_ENST00000366767.3_Intron	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	567					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CAGTGTGCGTCTTTCAGCTCT	0.423000													9	139					0	0	0.006214	0	0
SERPINB5	5268	broad.mit.edu	37	18	61160312	61160312	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:61160312C>T	ENST00000382771.4	+	5	843	c.551C>T	c.(550-552)cCt>cTt	p.P184L	SERPINB5_ENST00000489441.1_Missense_Mutation_p.P184L|SERPINB5_ENST00000464346.1_3'UTR	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	184					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						AAAGAATGTCCTTTCAGAGTC	0.408000													5	49					0	0	0.000602	0	0
REV1	51455	broad.mit.edu	37	2	100055763	100055763	+	Silent	SNP	G	G	A	rs28382881	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:100055763G>A	ENST00000258428.3	-	6	741	c.513C>T	c.(511-513)atC>atT	p.I171I	REV1_ENST00000393445.3_Silent_p.I171I|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	171					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTTCTTAACGATGTGATTTC	0.299000								Direct reversal of damage					4	29					0	0	0.000248	0	0
ZNF99	7652	broad.mit.edu	37	19	22941498	22941498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:22941498C>T	ENST00000397104.3	-	5	939	c.940G>A	c.(940-942)Gct>Act	p.A314T	ZNF99_ENST00000596209.1_Missense_Mutation_p.A405T					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CACTTAAAAGCTTTACCACAT	0.378000													5	33					0	0	0.001168	0	0
IGDCC3	9543	broad.mit.edu	37	15	65667550	65667550	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:65667550G>A	ENST00000327987.4	-	2	545	c.294C>T	c.(292-294)atC>atT	p.I98I		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	98	Ig-like C2-type 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGAAGTGACGGATCATCAAGG	0.607000													5	32					0	0	0.001168	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130219889	130219889	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:130219889C>T	ENST00000276211.5	+	9	1452	c.1107C>T	c.(1105-1107)gtC>gtT	p.V369V	ARHGAP36_ENST00000370922.1_Silent_p.V357V|ARHGAP36_ENST00000370921.1_Silent_p.V233V	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	369	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TTGCCTAGGTCCCAGGCAACC	0.438000													29	120					0	0	0.002096	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369820	20369820	+	RNA	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:20369820G>A	ENST00000593655.1	-	0	199																											AGAGAGATTTGAAACACCAGA	0.408000													5	17					0	0	0.001168	0	0
SLC6A5	9152	broad.mit.edu	37	11	20625943	20625943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:20625943C>T	ENST00000525748.1	+	3	925	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	218					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTGGAGGTTTCCCTACCTGGC	0.637000													9	111					0	0	0.008291	0	0
USH2A	7399	broad.mit.edu	37	1	215847770	215847770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:215847770G>A	ENST00000366943.2	-	63	13869	c.13483C>T	c.(13483-13485)Cgt>Tgt	p.R4495C	USH2A_ENST00000307340.3_Missense_Mutation_p.R4495C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4495	Fibronectin type-III 30.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTAAAATCACGATAGCGTGTT	0.458000										HNSCC(13;0.011)			13	121					0	0	0.004007	0	0
EPHB1	2047	broad.mit.edu	37	3	134960079	134960079	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:134960079C>T	ENST00000398015.3	+	13	2806	c.2436C>T	c.(2434-2436)atC>atT	p.I812I	EPHB1_ENST00000493838.1_Silent_p.I373I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	812	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCTATGGGATCGTCATGTGGG	0.527000													13	139					0	0	0.003163	0	0
MYO1B	4430	broad.mit.edu	37	2	192272864	192272864	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:192272864C>T	ENST00000392318.3	+	25	2827	c.2580C>T	c.(2578-2580)ttC>ttT	p.F860F	MYO1B_ENST00000304164.4_Silent_p.F860F|MYO1B_ENST00000339514.4_Silent_p.F802F|MYO1B_ENST00000392316.1_Silent_p.F831F|MYO1B_ENST00000439065.2_Silent_p.F105F	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	860	IQ 6.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			ACAGGAAATTCTTCAGAGCCA	0.363000													4	30					0	0	0.000602	0	0
DNAH5	1767	broad.mit.edu	37	5	13923469	13923469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:13923469C>T	ENST00000265104.4	-	4	462	c.358G>A	c.(358-360)Gat>Aat	p.D120N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	120	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D120N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGCCACATCGTTTCCCTCG	0.458000									Kartagener syndrome				18	84					0	0	0.004990	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720191	140720191	+	Silent	SNP	C	C	T	rs139317352		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140720191C>T	ENST00000394576.2	+	1	1653	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAGCCTGTTCGTGCTGGACC	0.602000													22	73					0	0	0.003330	0	0
SYNE1	23345	broad.mit.edu	37	6	152539445	152539445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:152539445G>A	ENST00000367255.5	-	121	22739	c.22138C>T	c.(22138-22140)Cct>Tct	p.P7380S	SYNE1_ENST00000341594.5_Missense_Mutation_p.P6992S|SYNE1_ENST00000356820.4_Missense_Mutation_p.P1904S|SYNE1_ENST00000265368.4_Missense_Mutation_p.P7380S|SYNE1_ENST00000423061.1_Missense_Mutation_p.P7309S|SYNE1_ENST00000448038.1_Missense_Mutation_p.P7309S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7380					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGTGGCTAGGGTCCTGCCCT	0.438000										HNSCC(10;0.0054)			22	203					0	0	0.002299	0	0
CD1E	913	broad.mit.edu	37	1	158325230	158325230	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158325230C>T	ENST00000444681.2	+	2	492	c.199C>T	c.(199-201)Cag>Tag	p.Q67*	CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368163.3_Nonsense_Mutation_p.Q166*|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368167.3_Nonsense_Mutation_p.Q166*|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368160.3_Nonsense_Mutation_p.Q166*|CD1E_ENST00000368161.3_Nonsense_Mutation_p.Q166*|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000434258.1_Nonsense_Mutation_p.Q164*|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368164.3_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	166					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GATCCGGGCCCAGAACATCTG	0.483000													6	59					0	0	0.001168	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47200576	47200576	+	Silent	SNP	A	A	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:47200576A>T	ENST00000296861.2	-	6	2286	c.1893T>A	c.(1891-1893)atT>atA	p.I631I		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	631					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGACTCCAATAATTTCGAATA	0.483000													27	118					0	0	0.002096	0	0
OR4C11	219429	broad.mit.edu	37	11	55371656	55371656	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:55371656G>A	ENST00000302231.4	-	1	218	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ATCTGCAAAGGACAAATAAAA	0.403000													17	62					0	0	0.006122	0	0
TEX14	56155	broad.mit.edu	37	17	56699130	56699130	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:56699130C>G	ENST00000389934.3	-	5	552	c.435G>C	c.(433-435)caG>caC	p.Q145H	TEX14_ENST00000349033.5_Missense_Mutation_p.Q145H|TEX14_ENST00000240361.8_Missense_Mutation_p.Q145H	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	145						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGCACAGCGCTGCATGAACT	0.552000													14	32					0	0	0.001855	0	0
EIF4G3	8672	broad.mit.edu	37	1	21221991	21221991	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:21221991G>A	ENST00000602326.1	-	15	2436	c.1853C>T	c.(1852-1854)tCc>tTc	p.S618F	EIF4G3_ENST00000536266.1_Missense_Mutation_p.S216F|EIF4G3_ENST00000264211.8_Missense_Mutation_p.S612F|EIF4G3_ENST00000537738.1_Missense_Mutation_p.S65F|EIF4G3_ENST00000544689.1_Missense_Mutation_p.S155F|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S612F|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000374935.3_Missense_Mutation_p.S332F|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S618F	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	612					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGGCTTCCAGGATTCTAGAAA	0.423000													11	38					0	0	0.001855	0	0
LRRC15	131578	broad.mit.edu	37	3	194080084	194080084	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:194080084G>A	ENST00000347624.3	-	2	1774	c.1689C>T	c.(1687-1689)tgC>tgT	p.C563C	LRRC15_ENST00000428839.1_Silent_p.C569C|LRRC15_ENST00000439944.2_Silent_p.C569C	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	563						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TCTTCTTGCAGCAGCAACAGC	0.617000													10	61					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179594268	179594268	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179594268C>T	ENST00000589042.1	-	64	18839	c.18615G>A	c.(18613-18615)ctG>ctA	p.L6205L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.L4961L|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.L5888L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5888	Ig-like 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACAGGCTTCAGCTCTCTGA	0.463000													10	61					0	0	0.000978	0	0
ABCC6	368	broad.mit.edu	37	16	16302666	16302666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:16302666G>A	ENST00000205557.7	-	7	742	c.713C>T	c.(712-714)tCg>tTg	p.S238L	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	238					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TCTCCCAAGCGACCAGAGGTC	0.557000													4	30					0	0	0.001168	0	0
RGPD3	653489	broad.mit.edu	37	2	107041599	107041599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:107041599C>T	ENST00000409886.3	-	20	2911	c.2824G>A	c.(2824-2826)Gaa>Aaa	p.E942K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E942K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	942					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GTATCATTTTCAAGAGGCTTT	0.418000													51	212					0	0	0.003610	0	0
DESI2	51029	broad.mit.edu	37	1	244852572	244852572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:244852572C>T	ENST00000302550.11	+	3	516	c.137C>T	c.(136-138)cCt>cTt	p.P46L	DESI2_ENST00000263831.7_Intron	NM_016076.3	NP_057160.2	Q9BSY9	PPDE1_HUMAN	desumoylating isopeptidase 2	46	PPPDE peptidase.																GGTGGCCATCCTTACCCCTTT	0.303000													14	135					0	0	0.007413	0	0
OR13C3	138803	broad.mit.edu	37	9	107298727	107298727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:107298727G>A	ENST00000374781.2	-	1	410	c.368C>T	c.(367-369)tCc>tTc	p.S123F		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TCCAGAGAAGGAAATGTTTCT	0.443000													9	58					0	0	0.004482	0	0
PTCH2	8643	broad.mit.edu	37	1	45293381	45293381	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:45293381G>A	ENST00000447098.2	-	15	2075	c.2064C>T	c.(2062-2064)atC>atT	p.I688I	PTCH2_ENST00000372192.3_Silent_p.I688I	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	688					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GCACCAGCACGATGGCCTGCG	0.647000									Basal Cell Nevus syndrome				6	32					0	0	0.004482	0	0
ZNF250	58500	broad.mit.edu	37	8	146107318	146107318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:146107318G>A	ENST00000292579.7	-	6	1381	c.1265C>T	c.(1264-1266)cCc>cTc	p.P422L	ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.P417L|ZNF250_ENST00000342660.6_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		GCATGCATAGGGCTTTTCCTC	0.562000													6	30					0	0	0.001168	0	0
SPATA31A1	647060	broad.mit.edu	37	9	39361018	39361018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:39361018G>A	ENST00000377647.3	+	4	3285	c.3256G>A	c.(3256-3258)Gag>Aag	p.E1086K		NM_001085452.1	NP_001078921.1			SPATA31 subfamily A, member 1									p.E1086K(1)									ACTGGTGCACGAGGAGCCCAG	0.542000													44	169					0	0	0.003610	0	0
NUAK2	81788	broad.mit.edu	37	1	205272852	205272852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:205272852C>T	ENST00000367157.3	-	7	1739	c.1613G>A	c.(1612-1614)cGa>cAa	p.R538Q		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	538					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCCTGAGGGTCGGCTGGCCCG	0.672000													4	46					0	0	0.001168	0	0
FCGR3A	2214	broad.mit.edu	37	1	161514572	161514572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:161514572C>T	ENST00000367969.3	-	4	787	c.604G>A	c.(604-606)Gac>Aac	p.D202N	FCGR3A_ENST00000443193.1_Missense_Mutation_p.D201N|FCGR3A_ENST00000540048.1_Missense_Mutation_p.D166N|FCGR3A_ENST00000436743.1_Missense_Mutation_p.D166N	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	166					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAGCCGCTGTCTTTGAGTGTG	0.443000													6	51					0	0	0.001984	0	0
MLKL	197259	broad.mit.edu	37	16	74729605	74729605	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:74729605C>T	ENST00000308807.7	-	2	514	c.51G>A	c.(49-51)cgG>cgA	p.R17R	MLKL_ENST00000306247.7_Silent_p.R17R	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	17							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TCTCTTCACACCGTTTGTGGA	0.498000													4	35					0	0	0.000248	0	0
NLRP2	55655	broad.mit.edu	37	19	55494640	55494640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55494640G>A	ENST00000543010.1	+	6	1717	c.1574G>A	c.(1573-1575)aGg>aAg	p.R525K	NLRP2_ENST00000391721.4_Missense_Mutation_p.R501K|NLRP2_ENST00000537859.1_Missense_Mutation_p.R503K|NLRP2_ENST00000448584.2_Missense_Mutation_p.R525K|NLRP2_ENST00000538819.1_Missense_Mutation_p.R501K|NLRP2_ENST00000263437.6_Missense_Mutation_p.R522K|NLRP2_ENST00000339757.7_Missense_Mutation_p.R503K|NLRP2_ENST00000427260.2_Missense_Mutation_p.R502K	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	525	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAAGAGGATAGGGACGGCCAC	0.547000													8	57					0	0	0.004482	0	0
NOVA1	4857	broad.mit.edu	37	14	26917315	26917315	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:26917315G>A	ENST00000539517.2	-	5	1691	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	NOVA1_ENST00000465357.2_Silent_p.S434S|NOVA1_ENST00000267422.7_Silent_p.S336S	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	461	KH 3.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CTCCTTTTTTGGAGATCTGTA	0.428000													6	27					0	0	0.001168	0	0
SPTA1	6708	broad.mit.edu	37	1	158639531	158639531	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158639531C>T	ENST00000368148.3	-	13	1825	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N	SPTA1_ENST00000368147.3_Missense_Mutation_p.D549N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	549					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCTCTGAATCATAATGGTCA	0.413000													7	174					0	0	0.003080	0	0
ACKR3	57007	broad.mit.edu	37	2	237489756	237489756	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:237489756C>T	ENST00000272928.3	+	2	958	c.648C>T	c.(646-648)tcC>tcT	p.S216S		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		AGCTGGTCTCCGTTGTCTTGG	0.572000													10	62					0	0	0.006214	0	0
CEP250	11190	broad.mit.edu	37	20	34095871	34095871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:34095871G>A	ENST00000397527.1	+	32	7478	c.6758G>A	c.(6757-6759)gGa>gAa	p.G2253E	CEP250_ENST00000342580.4_Missense_Mutation_p.G2197E	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2253					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CAGGTCTCAGGAGTGGAGGCT	0.552000													28	117					0	0	0.002096	0	0
NMU	10874	broad.mit.edu	37	4	56471515	56471515	+	Splice_Site	SNP	G	G	A	rs138342873		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:56471515G>A	ENST00000264218.3	-	7	467	c.360_splice	c.e7-1	p.S121_splice	NMU_ENST00000505262.1_Splice_Site_p.S94_splice|NMU_ENST00000515325.1_5'UTR|NMU_ENST00000511469.1_Splice_Site_p.S105_splice|NMU_ENST00000507338.1_Intron	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	121					neuropeptide signaling pathway	extracellular region				lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		CACAACTGACGACTGAGAGGA	0.453000													6	32					0	0	0.001168	0	0
EWSR1	2130	broad.mit.edu	37	22	29684598	29684598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:29684598C>T	ENST00000397938.2	+	8	1116	c.797C>T	c.(796-798)tCa>tTa	p.S266L	EWSR1_ENST00000406548.1_Missense_Mutation_p.S266L|EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000414183.2_Missense_Mutation_p.S272L|EWSR1_ENST00000332035.6_Missense_Mutation_p.S210L|EWSR1_ENST00000331029.7_Missense_Mutation_p.S266L|EWSR1_ENST00000333395.6_Missense_Mutation_p.S266L	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	266	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).|IQ.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCCTCAGGTTCATTCCGACAG	0.507000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								6	58					0	0	0.001984	0	0
KLHL12	59349	broad.mit.edu	37	1	202864694	202864694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:202864694G>A	ENST00000367261.3	-	8	1309	c.1091C>T	c.(1090-1092)cCt>cTt	p.P364L	KLHL12_ENST00000435533.3_Missense_Mutation_p.P402L|KLHL12_ENST00000367259.1_Missense_Mutation_p.P97L	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	364					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GACATTCATAGGGGCCACAGA	0.532000													10	21					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179584942	179584942	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179584942C>T	ENST00000589042.1	-	81	23651	c.23427G>A	c.(23425-23427)ggG>ggA	p.G7809G	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.G6565G|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.G7492G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7492	Ig-like 60.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACAGCATCCCCAATAAGGG	0.443000													4	41					0	0	0.000602	0	0
C9orf156	51531	broad.mit.edu	37	9	100672574	100672574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:100672574G>A	ENST00000375119.3	-	4	810	c.734C>T	c.(733-735)cCt>cTt	p.P245L	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	245					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				CCTGTGCATAGGAAATGCTTG	0.453000													14	123					0	0	0.004007	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24253266	24253266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:24253266G>A	ENST00000538205.1	+	6	707	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.E54K|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.E133K|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	133					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.E133K(1)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CATCCTAAATGAAAAGAATTC	0.363000													7	26					0	0	0.004482	0	0
SLAMF7	57823	broad.mit.edu	37	1	160720183	160720183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:160720183C>T	ENST00000368043.3	+	4	776	c.739C>T	c.(739-741)Ctt>Ttt	p.L247F	SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000359331.4_Missense_Mutation_p.L247F|SLAMF7_ENST00000368042.3_Missense_Mutation_p.L140F|SLAMF7_ENST00000458602.2_Intron	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	247					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGGGCTATTTCTTTGGTTTCT	0.468000													18	157					0	0	0.007413	0	0
TGM3	7053	broad.mit.edu	37	20	2308781	2308781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:2308781G>A	ENST00000381458.5	+	9	1166	c.1103G>A	c.(1102-1104)gGc>gAc	p.G368D		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	368					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TTCCAGTGCGGCCCCGCTTCG	0.592000													6	55					0	0	0.003080	0	0
MIER2	54531	broad.mit.edu	37	19	313599	313599	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:313599G>A	ENST00000264819.4	-	8	710	c.700C>T	c.(700-702)Cct>Tct	p.P234S		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	234	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCTCTCAGGGAGGACGCTG	0.617000													11	50					0	0	0.000978	0	0
CCDC60	160777	broad.mit.edu	37	12	119978455	119978455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:119978455G>A	ENST00000327554.2	+	14	2053	c.1588G>A	c.(1588-1590)Gat>Aat	p.D530N	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	530										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GCCTCAAGAGGATTACATCAG	0.532000													5	85					0	0	0.000602	0	0
OR4B1	119765	broad.mit.edu	37	11	48238598	48238598	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:48238598C>T	ENST00000309562.2	+	1	255	c.237C>T	c.(235-237)ttC>ttT	p.F79F		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCCCTAAATTCATCATAGACT	0.448000													10	110					0	0	0.006214	0	0
PRRC2A	7916	broad.mit.edu	37	6	31597589	31597589	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:31597589C>A	ENST00000376033.2	+	14	2455	c.2221C>A	c.(2221-2223)Cta>Ata	p.L741I	PRRC2A_ENST00000376007.4_Missense_Mutation_p.L741I	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	741	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCGTCCCCCTCTAGACTTCTA	0.577000													9	69					0.000673444	0.00075997	0.008291	1	0
AGRN	375790	broad.mit.edu	37	1	983033	983033	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:983033C>T	ENST00000379370.2	+	21	3647	c.3597C>T	c.(3595-3597)tcC>tcT	p.S1199S		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1199	SEA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCGGCAAATCCGTCCGCGCCA	0.617000													4	39					0	0	0.001168	0	0
NLRP14	338323	broad.mit.edu	37	11	7063788	7063788	+	Silent	SNP	G	G	A	rs141888194		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:7063788G>A	ENST00000299481.4	+	4	877	c.531G>A	c.(529-531)caG>caA	p.Q177Q		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	177	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CACAGCCACAGATCGTGGTGC	0.478000													7	45					0	0	0.004482	0	0
AMPH	273	broad.mit.edu	37	7	38433676	38433676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:38433676C>T	ENST00000356264.2	-	18	1752	c.1537G>A	c.(1537-1539)Gga>Aga	p.G513R	AMPH_ENST00000325590.5_Missense_Mutation_p.G471R|AMPH_ENST00000428293.2_Missense_Mutation_p.G471R|AMPH_ENST00000471913.1_5'UTR	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	513					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GTTTCAGTTCCAATTTTGGCC	0.597000													18	111					0	0	0.007413	0	0
NEU1	4758	broad.mit.edu	37	6	31828340	31828340	+	Missense_Mutation	SNP	C	C	A	rs104893980		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:31828340C>A	ENST00000375631.4	-	4	803	c.674G>T	c.(673-675)cGg>cTg	p.R225L		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	225			R -> P (in SIALIDOSIS; type 2; impaired enzyme folding; dbSNP:rs28940584).			cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	GACTCCGTCCCGCTCCAGCGT	0.612000													7	428					0.00448238	0.00504891	0.004482	1	0
CILP	8483	broad.mit.edu	37	15	65494342	65494342	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:65494342G>A	ENST00000261883.4	-	8	1220	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	352	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TAGAGGGAAGGATCCAGCAAT	0.542000													23	95					0	0	0.007291	0	0
KCTD7	154881	broad.mit.edu	37	7	66104169	66104169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:66104169C>T	ENST00000275532.3	+	4	1004	c.820C>T	c.(820-822)Cac>Tac	p.H274Y	KCTD7_ENST00000443322.1_Missense_Mutation_p.H274Y	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	274						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CCTCGTGAACCACTACTACTG	0.582000													7	59					0	0	0.003080	0	0
TMEM2	23670	broad.mit.edu	37	9	74365122	74365122	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:74365122G>C	ENST00000377044.4	-	2	707	c.168C>G	c.(166-168)gaC>gaG	p.D56E	TMEM2_ENST00000377066.5_Missense_Mutation_p.D56E	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	56						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGGTTGCCCGGTCTTCTCGTC	0.463000													5	98					0	0	0.000602	0	0
GABBR1	2550	broad.mit.edu	37	6	29591248	29591248	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:29591248G>A	ENST00000377034.4	-	8	1132	c.797C>T	c.(796-798)tCc>tTc	p.S266F	GABBR1_ENST00000377012.4_Missense_Mutation_p.S149F|GABBR1_ENST00000377016.4_Missense_Mutation_p.S204F|GABBR1_ENST00000355973.3_Missense_Mutation_p.S149F|GABBR1_ENST00000376977.3_Missense_Mutation_p.S266F	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	266					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GGAGCCATAGGAAAGCTGTGG	0.562000													3	15					0	0	0.004672	0	0
LST3	0	broad.mit.edu	37	12	21242929	21242929	+	Silent	SNP	C	C	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:21242929C>T	ENST00000540229.1	+	16	2201	c.2136C>T	c.(2134-2136)tcC>tcT	p.S712S	SLCO1B7_ENST00000554957.1_Silent_p.S651S|SLCO1B7_ENST00000421593.2_Silent_p.S604S|LST3_ENST00000381541.3_Silent_p.S651S|SLCO1B3_ENST00000553473.1_Silent_p.S712S|RP11-125O5.2_ENST00000590779.1_Intron																							GGAAAAAATCCCATGGAAAGG	0.343000													4	19					0	0	0.000248	0	0
MYO5B	4645	broad.mit.edu	37	18	47488732	47488732	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:47488732G>A	ENST00000285039.7	-	12	1748	c.1449C>T	c.(1447-1449)atC>atT	p.I483I		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	483	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGGTCCAAGGGATCTGTTCCT	0.428000													4	28					0	0	0.000248	0	0
CD93	22918	broad.mit.edu	37	20	23065369	23065369	+	Silent	SNP	T	T	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:23065369T>C	ENST00000246006.4	-	1	1608	c.1461A>G	c.(1459-1461)ggA>ggG	p.G487G		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	487					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTTCTTTCTCTCCTTTGTCCT	0.652000													6	38					0	0	0.003080	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307287	39307287	+	Silent	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:39307287G>A	ENST00000541347.1	-	2	953	c.714C>T	c.(712-714)atC>atT	p.I238I	CX3CR1_ENST00000358309.3_Silent_p.I270I|CX3CR1_ENST00000542107.1_Silent_p.I238I|CX3CR1_ENST00000399220.2_Silent_p.I238I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	238					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.I238I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GGAAAAACACGATGACCACCA	0.428000													21	59					0	0	0.008871	0	0
IL13RA1	3597	broad.mit.edu	37	X	117900492	117900492	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:117900492G>A	ENST00000371666.3	+	7	895		c.e7-1		IL13RA1_ENST00000481868.1_Splice_Site	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1							interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						ttattttCAAGGTCCAAGAGG	0.333000													4	18					0	0	0.000248	0	0
VPS13D	55187	broad.mit.edu	37	1	12405522	12405522	+	Frame_Shift_Del	DEL	T	T	-	rs34106288		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:12405522delT	ENST00000358136.3	+	43	9107	c.8977delT	c.(8977-8979)ttfs	p.F2994fs	VPS13D_ENST00000356315.4_Frame_Shift_Del_p.F2969fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2993					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGTCGGGACCTTTTTTCGATA	0.483													7	129	---	---	---	---					
MAPKAPK2	9261	broad.mit.edu	37	1	206858676	206858678	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:206858676_206858678delGCC	ENST00000367103.3	+	1	295_297	c.102_104delGCC	c.(100-105)cag>ca	p.QP34del	MAPKAPK2_ENST00000294981.4_In_Frame_Del_p.QP34del	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	34	Pro-rich.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			ccccggcgcagccgccgccgccg	0.729													2	4	---	---	---	---					
DISP1	84976	broad.mit.edu	37	1	223178918	223178919	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:223178918_223178919insT	ENST00000284476.6	+	8	4343_4344	c.4179_4180insT	c.(4177-4182)tcttgtfs	p.C1394fs		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1394					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGCCATCGTCATTTGTCTGCAG	0.455													19	279	---	---	---	---					
MTA3	57504	broad.mit.edu	37	2	42871289	42871289	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:42871289delT	ENST00000405592.1	+	7	906	c.236delT	c.(235-237)gcfs	p.V79fs	MTA3_ENST00000406652.1_Frame_Shift_Del_p.V79fs|MTA3_ENST00000406911.1_Frame_Shift_Del_p.V135fs|MTA3_ENST00000405094.1_Frame_Shift_Del_p.V135fs|MTA3_ENST00000407270.3_Frame_Shift_Del_p.V135fs			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	135	BAH.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						TACTCATTGGTCTATGACCCC	0.353													8	41	---	---	---	---					
CDH10	1008	broad.mit.edu	37	5	24488051	24488051	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:24488051delA	ENST00000264463.4	-	12	2595	c.2088delT	c.(2086-2088)ttfs	p.F696fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	696					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCCGAGGAATAAATAACGTTT	0.502										HNSCC(23;0.051)			11	42	---	---	---	---					
SCAF8	22828	broad.mit.edu	37	6	155153552	155153569	+	In_Frame_Del	DEL	CCACCCCAACGGGGAATC	CCACCCCAACGGGGAATC	-			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:155153552_155153569delCCACCCCAACGGGGAATC	ENST00000367178.3	+	20	3415_3432	c.2839_2856delCCACCCCAACGGGGAATC	c.(2839-2856)del	p.PPQRGI947del	SCAF8_ENST00000367186.4_In_Frame_Del_p.PPQRGI1013del|SCAF8_ENST00000417268.1_In_Frame_Del_p.PPQRGI947del	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	947	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	p.I952I(1)|p.R950L(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						GCCTGGAATTCCACCCCAACGGGGAATCCCACCCCCAT	0.495													12	174	---	---	---	---					
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707	by1000genomes	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(145-150)gggcgg>ggGGCGGCGGCgcgg	p.49_50GR>GAAAR	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	49	Gly-rich.		Missing.					p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688													4	2	---	---	---	---					
MSANTD4	84437	broad.mit.edu	37	11	105880579	105880579	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:105880579delG	ENST00000301919.4	-	3	2136	c.721delC	c.(721-723)ggfs	p.R241fs		NM_032424.1	NP_115800.1	Q8NCY6	K1826_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	241						nucleus											TCTAAATGCCGCAGCCTCTCT	0.463													16	64	---	---	---	---					
NEDD4L	23327	broad.mit.edu	37	18	56058729	56058729	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:56058729delT	ENST00000456986.1	+	30	3000	c.2400delT	c.(2398-2400)ggfs	p.G800fs	NEDD4L_ENST00000400345.3_Frame_Shift_Del_p.G921fs|NEDD4L_ENST00000431212.2_Frame_Shift_Del_p.G800fs|NEDD4L_ENST00000356462.6_Frame_Shift_Del_p.G857fs|NEDD4L_ENST00000357895.5_Frame_Shift_Del_p.G913fs|NEDD4L_ENST00000382850.4_Frame_Shift_Del_p.G901fs|NEDD4L_ENST00000586263.1_Frame_Shift_Del_p.G893fs|NEDD4L_ENST00000456173.2_Frame_Shift_Del_p.G780fs|NEDD4L_ENST00000256830.9_Frame_Shift_Del_p.G817fs|NEDD4L_ENST00000589054.1_Frame_Shift_Del_p.G52fs|NEDD4L_ENST00000435432.2_Frame_Shift_Del_p.G780fs|NEDD4L_ENST00000256832.7_Frame_Shift_Del_p.G781fs	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	921	HECT.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GTTCCAATGGTCCTCAGCTGT	0.453													2	4	---	---	---	---					
ARHGAP35	2909	broad.mit.edu	37	19	47503883	47503884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:47503883_47503884insC	ENST00000404338.3	+	6	4438_4439	c.4438_4439insC	c.(4438-4440)cccfs	p.P1480fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1480	Pro-rich.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.T1480P(2)									GCCTCCACCCACCCCCCAGTCC	0.668													2	4	---	---	---	---