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
CLN6	54982	broad.mit.edu	37	15	68500508	68500508	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:68500508G>C	ENST00000249806.5	-	7	1063	c.906C>G	c.(904-906)ttC>ttG	p.F302L	CLN6_ENST00000538696.1_Missense_Mutation_p.F334L|CLN6_ENST00000565471.1_Missense_Mutation_p.F149L|CLN6_ENST00000418702.2_Missense_Mutation_p.F173L|CLN6_ENST00000566347.1_Missense_Mutation_p.F239L|RP11-315D16.2_ENST00000562767.1_Intron	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	302					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAAGGGTGTAGAAAGCCCAGG	0.617000													30	91					0	0	1	0	0
ZNF271P	10778	broad.mit.edu	37	18	32887028	32887028	+	RNA	SNP	T	T	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr18:32887028T>A	ENST00000399070.3	+	0	1422					NR_024565.1|NR_024566.1															large_intestine(3)|lung(9)	12						GGAAAACCTTTAGTCAGAGCT	0.383000													4	149					0	0	1	0	0
SLC10A7	84068	broad.mit.edu	37	4	147215141	147215141	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr4:147215141G>A	ENST00000432059.2	-	7	869	c.623C>T	c.(622-624)aCg>aTg	p.T208M	SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000507030.1_Missense_Mutation_p.T221M|SLC10A7_ENST00000394062.3_Missense_Mutation_p.T221M|SLC10A7_ENST00000335472.7_Missense_Mutation_p.T221M			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	221						integral to membrane	bile acid:sodium symporter activity	p.T221M(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					GTTAGAGAACGTGTCACAGAA	0.428000													10	84					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155240738	155240738	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:155240738C>T	ENST00000368361.4	-	2	346	c.31G>A	c.(31-33)Gag>Aag	p.E11K	CLK2_ENST00000361168.5_Missense_Mutation_p.E11K|CLK2_ENST00000536801.1_Missense_Mutation_p.E11K|CLK2_ENST00000355560.4_Missense_Mutation_p.E11K			P49760	CLK2_HUMAN	CDC-like kinase 2	11						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		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)			CTGCCTCGCTCTGAGGAGTGG	0.547000								Other conserved DNA damage response genes					27	145					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76482548	76482548	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:76482548C>G	ENST00000389840.5	-	45	6941	c.6817G>C	c.(6817-6819)Gag>Cag	p.E2273Q	RP11-559N14.5_ENST00000588565.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Missense_Mutation_p.E2282Q|DNAH17_ENST00000586052.1_5'UTR					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)			TTGGCCTTCTCCGACTGCACC	0.607000													11	69					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564002	46564002	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:46564002C>A	ENST00000458649.2	-	7	1983	c.1565G>T	c.(1564-1566)gGg>gTg	p.G522V	AMBRA1_ENST00000314845.3_Missense_Mutation_p.G432V|AMBRA1_ENST00000426438.1_Missense_Mutation_p.G522V|AMBRA1_ENST00000533727.1_Missense_Mutation_p.G432V|AMBRA1_ENST00000528950.1_Missense_Mutation_p.G522V|AMBRA1_ENST00000298834.3_Missense_Mutation_p.G522V|AMBRA1_ENST00000534300.1_Missense_Mutation_p.G522V			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	522					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)		GGGAGCTTCCCCACTCAGGCT	0.562000													31	57					3.99451e-17	4.37159e-17	1	1	0
SFI1	9814	broad.mit.edu	37	22	31927106	31927106	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr22:31927106C>G	ENST00000432498.1	+	4	722	c.329C>G	c.(328-330)tCt>tGt	p.S110C	SFI1_ENST00000540643.1_Intron|SFI1_ENST00000400288.2_Missense_Mutation_p.S110C|SFI1_ENST00000443326.1_Intron|SFI1_ENST00000414585.1_Intron|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000443011.1_Intron	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	110					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GTATTTCCCTCTAAAGCCAGG	0.318000													15	43					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90166913	90166913	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:90166913C>G	ENST00000268138.7	+	20	3477	c.3372C>G	c.(3370-3372)atC>atG	p.I1124M	TICRR_ENST00000560985.1_Missense_Mutation_p.I1123M|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator																		CAAGAAGGATCTCTCATACAC	0.408000													15	326					0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14664490	14664490	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:14664490C>T	ENST00000240617.5	-	7	1652	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	334					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TTGCCACTATCTGCCATCATA	0.443000													11	222					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52956428	52956428	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:52956428A>T	ENST00000371544.3	-	8	1626	c.1364T>A	c.(1363-1365)gTt>gAt	p.V455D	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.V455D|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	455					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCACACCACAACAGGAACTTT	0.308000													8	36					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40853607	40853607	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr18:40853607C>T	ENST00000255224.3	-	2	1155	c.787G>A	c.(787-789)Gga>Aga	p.G263R	SYT4_ENST00000590752.1_Missense_Mutation_p.G245R|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	263	Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AATTCAATTCCCGAGAGAGGA	0.328000													24	35					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2349535	2349535	+	Splice_Site	SNP	T	T	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:2349535T>G	ENST00000301732.5	-	14	2312		c.e14-2		ABCA3_ENST00000382381.3_Splice_Site	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3						response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCTGAACACCTGCAGGAAAGG	0.647000													35	59					0	0	1	0	0
CPO	130749	broad.mit.edu	37	2	207833019	207833019	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:207833019G>C	ENST00000272852.3	+	8	856	c.810G>C	c.(808-810)ttG>ttC	p.L270F		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	270					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CAAATGCATTGAAAGCAAAGT	0.358000													29	22					0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90894909	90894909	+	Silent	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:90894909G>T	ENST00000287934.2	+	1	1127	c.714G>T	c.(712-714)ccG>ccT	p.P238P		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	238					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			AGGGCACCCCGACGCCCTCGC	0.711000													9	37					2.17888e-05	2.25811e-05	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169463548	169463548	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:169463548G>A	ENST00000256935.8	+	36	3734	c.3654G>A	c.(3652-3654)gaG>gaA	p.E1218E	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.E279E|DOCK2_ENST00000520908.1_Silent_p.E710E	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1218	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAGGGAGGAGATGTACATAA	0.428000													32	8					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26463550	26463550	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:26463550C>T	ENST00000256737.3	+	2	984	c.132C>T	c.(130-132)taC>taT	p.Y44Y	ANO3_ENST00000525139.1_Silent_p.Y28Y|ANO3_ENST00000531646.1_Silent_p.Y44Y|ANO3_ENST00000537978.1_Silent_p.Y28Y	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	44						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						CCCAGAGCTACGCTTACTCAA	0.453000													74	144					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75601257	75601257	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:75601257G>C	ENST00000549446.1	-	2	1187	c.507C>G	c.(505-507)ttC>ttG	p.F169L	KCNC2_ENST00000550433.1_Missense_Mutation_p.F169L|KCNC2_ENST00000393288.2_Missense_Mutation_p.F169L|KCNC2_ENST00000298972.1_Missense_Mutation_p.F169L|KCNC2_ENST00000548513.1_Missense_Mutation_p.F169L|KCNC2_ENST00000350228.2_Missense_Mutation_p.F169L|KCNC2_ENST00000540018.1_Missense_Mutation_p.F169L|KCNC2_ENST00000341669.3_Missense_Mutation_p.F169L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	169					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CGGGGGTCTCGAAGATGTCCA	0.721000													4	22					0	0	1	0	0
MLC1	23209	broad.mit.edu	37	22	50512736	50512736	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr22:50512736G>C	ENST00000311597.5	-	8	1229	c.623C>G	c.(622-624)tCt>tGt	p.S208C	MLC1_ENST00000535444.1_Missense_Mutation_p.S129C|MLC1_ENST00000431262.2_Missense_Mutation_p.S178C|MLC1_ENST00000395876.2_Missense_Mutation_p.S208C|MLC1_ENST00000538737.1_Missense_Mutation_p.S174C|MLC1_ENST00000450140.2_Missense_Mutation_p.S156C	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	208						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GAGGACGGCAGAGATGCCTGC	0.567000													9	31					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277164	152277164	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:152277164G>T	ENST00000368799.1	-	3	10233	c.10198C>A	c.(10198-10200)Cat>Aat	p.H3400N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3400	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)			GTCCGCCCATGGGCAGACTCA	0.612000									Ichthyosis				151	666					1.56079e-52	1.74441e-52	1	1	0
SMPDL3B	27293	broad.mit.edu	37	1	28285004	28285004	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:28285004C>A	ENST00000373894.3	+	8	1214	c.1023C>A	c.(1021-1023)ttC>ttA	p.F341L	SMPDL3B_ENST00000549094.1_Missense_Mutation_p.F293L|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	341					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)		TGACCTACTTCATGAACCTGA	0.612000													6	105					1.06961e-07	1.11868e-07	1	1	0
BLM	641	broad.mit.edu	37	15	91341433	91341433	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:91341433G>C	ENST00000355112.3	+	17	3342	c.3224G>C	c.(3223-3225)aGa>aCa	p.R1075T	BLM_ENST00000560509.1_Missense_Mutation_p.R1075T|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1075					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)			TATAAAACAAGAGATGTGACT	0.299000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				5	64					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82935193	82935193	+	Splice_Site	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:82935193C>T	ENST00000306270.7	-	6	1375		c.e6+1		IBTK_ENST00000503631.1_Splice_Site|IBTK_ENST00000510291.1_Splice_Site	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase						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)		GTAAAGCTTACCTGTCTGGGT	0.299000													45	7					0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73956347	73956347	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:73956347C>A	ENST00000537812.1	-	3	913	c.265G>T	c.(265-267)Gcc>Tcc	p.A89S	ACOX1_ENST00000591857.1_5'UTR|ACOX1_ENST00000293217.5_Missense_Mutation_p.A127S|ACOX1_ENST00000301608.4_Intron	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	127					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						AAGTTCCAGGCGGGCATGAAG	0.587000													5	63					1	1	1	1	0
OR10A4	283297	broad.mit.edu	37	11	6897945	6897945	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:6897945G>C	ENST00000379829.2	+	1	90	c.67G>C	c.(67-69)Gag>Cag	p.E23Q		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTGTCCACTGAGCTTCAGGC	0.448000													36	158					0	0	1	0	0
C12orf55	144535	broad.mit.edu	37	12	97078959	97078959	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:97078959C>T	ENST00000524981.4	+	42	5980	c.5957C>T	c.(5956-5958)tCa>tTa	p.S1986L						chromosome 12 open reading frame 55																		GAGTTTCTGTCAAGAGTTGGC	0.493000													14	67					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:90161926T>C	ENST00000567960.1	+	0	662				TUBB8P7_ENST00000564451.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													4	18					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39903487	39903487	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:39903487G>C	ENST00000564288.1	+	71	18804	c.18027G>C	c.(18025-18027)gaG>gaC	p.E6009D	MACF1_ENST00000372915.3_Missense_Mutation_p.E5908D|MACF1_ENST00000361689.2_Missense_Mutation_p.E3950D|MACF1_ENST00000567887.1_Missense_Mutation_p.E6046D|MACF1_ENST00000317713.7_Missense_Mutation_p.E3950D|MACF1_ENST00000289893.4_Missense_Mutation_p.E4452D|MACF1_ENST00000545844.1_Missense_Mutation_p.E3950D|MACF1_ENST00000539005.1_Missense_Mutation_p.E3820D			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6024					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)			AGACACTGGAGAATCTTTCCT	0.448000													18	115					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27324449	27324449	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr10:27324449C>T	ENST00000376087.4	-	24	3095	c.2930G>A	c.(2929-2931)cGg>cAg	p.R977Q	ANKRD26_ENST00000376070.3_Missense_Mutation_p.R534Q|ANKRD26_ENST00000436985.2_Missense_Mutation_p.R993Q	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	976						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AACACTAAGCCGTCCATTATA	0.358000													12	61					0	0	1	0	0
AGO3	192669	broad.mit.edu	37	1	36479639	36479639	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:36479639G>A	ENST00000373191.4	+	11	1745	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	AGO3_ENST00000246314.6_Missense_Mutation_p.E232K	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		GTGCAGAGAAGAAATATTGAA	0.393000													16	161					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58832330	58832330	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr14:58832330G>C	ENST00000355431.3	+	21	3679	c.3306G>C	c.(3304-3306)aaG>aaC	p.K1102N	ARID4A_ENST00000395168.3_Missense_Mutation_p.K1102N|ARID4A_ENST00000431317.2_Missense_Mutation_p.K1102N|ARID4A_ENST00000348476.3_Missense_Mutation_p.K1102N	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1102					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						AAAATGAAAAGAATGGAACAG	0.373000													16	18					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241951227	241951227	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:241951227G>T	ENST00000366552.2	+	23	2959	c.2752G>T	c.(2752-2754)Gat>Tat	p.D918Y	WDR64_ENST00000437684.2_Missense_Mutation_p.D751Y	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	918										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)			ACAGACAAGAGATTTCATTTT	0.383000													23	132					7.16444e-05	7.40253e-05	1	1	0
TRBV5-6	28609	broad.mit.edu	37	7	142131662	142131662	+	RNA	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:142131662G>C	ENST00000390375.2	-	0	133																											CTCTCGTTTTGATCAGGTGTG	0.567000													72	61					0	0	1	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279832	217279832	+	Silent	SNP	A	A	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:217279832A>G	ENST00000357276.4	+	3	735	c.405A>G	c.(403-405)aaA>aaG	p.K135K	SMARCAL1_ENST00000358207.5_Silent_p.K135K	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	135					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AGGTCCCTAAACAACAGCTCT	0.517000									Schimke Immuno-Osseous Dysplasia				7	101					0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74453608	74453608	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr4:74453608C>G	ENST00000307439.5	-	5	625	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	RASSF6_ENST00000395777.2_Missense_Mutation_p.E111Q|RASSF6_ENST00000335049.5_Missense_Mutation_p.E99Q|RASSF6_ENST00000342081.3_Missense_Mutation_p.E143Q	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	143					apoptosis|signal transduction		protein binding			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)			CTGTCCAGCTCACTAATACGA	0.368000													11	68					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129125554	129125554	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:129125554G>A	ENST00000249344.2	+	21	2429	c.2389G>A	c.(2389-2391)Gta>Ata	p.V797I		NM_020704.2	NP_065755.1			striatin interacting protein 2																		CTTGCAGAGCGTACTGGGGCA	0.507000													53	75					0	0	1	0	0
COPS4	51138	broad.mit.edu	37	4	83996469	83996469	+	Missense_Mutation	SNP	G	G	A	rs113267477	byFrequency	TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr4:83996469G>A	ENST00000509093.1	+	9	1800	c.1022G>A	c.(1021-1023)cGt>cAt	p.R341H	COPS4_ENST00000511653.1_Missense_Mutation_p.V419M|COPS4_ENST00000503682.1_Silent_p.T401T|COPS4_ENST00000264389.2_Silent_p.T369T	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	341	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				CCCTGCCAACGTGGGATAAGC	0.378000													8	41					0	0	1	0	0
SIMC1	375484	broad.mit.edu	37	5	175740741	175740741	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:175740741G>C	ENST00000443967.1	+	7	2132	c.1725G>C	c.(1723-1725)caG>caC	p.Q575H	SIMC1_ENST00000430704.2_Missense_Mutation_p.Q160H|SIMC1_ENST00000341199.6_Missense_Mutation_p.Q160H|SIMC1_ENST00000332772.4_Missense_Mutation_p.Q36H					SUMO-interacting motifs containing 1																		ATGTCGTTCAGACCCTAGAAG	0.507000													59	231					0	0	1	0	0
FASTKD1	79675	broad.mit.edu	37	2	170411686	170411686	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:170411686G>A	ENST00000453153.2	-	7	1508	c.1162C>T	c.(1162-1164)Ctg>Ttg	p.L388L	FASTKD1_ENST00000453929.2_Silent_p.L388L	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	388					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TGGAAATGCAGAAAAGTTAAT	0.308000													7	28					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31778366	31778366	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr14:31778366C>G	ENST00000543095.2	-	29	4648	c.4464G>C	c.(4462-4464)gaG>gaC	p.E1488D	HEATR5A_ENST00000439727.1_Missense_Mutation_p.E1195D|HEATR5A_ENST00000389961.3_Missense_Mutation_p.E1482D|HEATR5A_ENST00000439348.1_Missense_Mutation_p.E1482D	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1482							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TTTCACTAGTCTCTGCTGTGT	0.378000													7	81					0	0	1	0	0
PPP5C	5536	broad.mit.edu	37	19	46891955	46891955	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:46891955G>A	ENST00000012443.4	+	11	1425	c.1322G>A	c.(1321-1323)cGc>cAc	p.R441H	PPP5C_ENST00000391919.1_Missense_Mutation_p.R313H	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	441	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CACGGAGGCCGCTGTGTCACC	0.552000													50	157					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77288825	77288825	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr4:77288825C>G	ENST00000388914.3	-	11	1604	c.1452G>C	c.(1450-1452)ttG>ttC	p.L484F		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	484										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCTTGGCTGTCAACTCTTCTA	0.453000													6	46					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150935959	150935959	+	Silent	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:150935959G>T	ENST00000261800.5	-	3	3591	c.3579C>A	c.(3577-3579)ctC>ctA	p.L1193L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1193	Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTAGATAGGAGACCTGAGA	0.453000													8	35					4.68919e-08	4.91933e-08	1	1	0
CCDC41	51134	broad.mit.edu	37	12	94703834	94703834	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:94703834C>G	ENST00000397809.5	-	16	2410	c.1861G>C	c.(1861-1863)Gat>Cat	p.D621H	CCDC41_ENST00000339839.5_Missense_Mutation_p.D621H	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	613										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CTCTGTATATCTTTTAGTCTT	0.328000													45	36					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187524171	187524171	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr4:187524171C>G	ENST00000441802.2	-	20	11577	c.11368G>C	c.(11368-11370)Gtc>Ctc	p.V3790L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3790	EGF-like 1.				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						CCATGGTGGACAGGTGGGCAC	0.498000										HNSCC(5;0.00058)			7	83					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169578883	169578883	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:169578883C>G	ENST00000263686.6	-	8	1229	c.1192G>C	c.(1192-1194)Gat>Cat	p.D398H	SELP_ENST00000367786.2_Missense_Mutation_p.D336H|SELP_ENST00000367793.2_Missense_Mutation_p.D336H|SELP_ENST00000367788.2_Missense_Mutation_p.D336H|SELP_ENST00000367791.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.D336H|SELP_ENST00000367792.2_Missense_Mutation_p.D336H|SELP_ENST00000458599.2_Missense_Mutation_p.D336H	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	398	Sushi 4.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GGAGAGCAATCCATGCTTCCG	0.507000													8	48					0	0	1	0	0
FAM216A	29902	broad.mit.edu	37	12	110923001	110923001	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:110923001C>G	ENST00000377673.5	+	3	815	c.303C>G	c.(301-303)ttC>ttG	p.F101L		NM_013300.2	NP_037432.2	Q8WUB2	CL024_HUMAN	family with sequence similarity 216, member A	101																	CGTCCTTTTTCAAGGTATGCT	0.398000													80	14					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70812069	70812069	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:70812069G>C	ENST00000358731.4	+	21	5094	c.4831G>C	c.(4831-4833)Gat>Cat	p.D1611H	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1611					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATTACCAAAAGATGAAACTGA	0.333000													10	30					0	0	1	0	0
FBXO21	23014	broad.mit.edu	37	12	117612051	117612051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:117612051G>A	ENST00000427718.2	-	6	909	c.835C>T	c.(835-837)Cga>Tga	p.R279*	FBXO21_ENST00000549689.1_5'UTR|FBXO21_ENST00000330622.5_Nonsense_Mutation_p.R279*	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	279					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TAATCCATTCGATTCCCCTTG	0.358000													64	54					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56490299	56490299	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:56490299C>A	ENST00000267101.3	+	18	2508	c.2068C>A	c.(2068-2070)Ctg>Atg	p.L690M	ERBB3_ENST00000415288.2_Missense_Mutation_p.L631M|ERBB3_ENST00000553131.1_5'UTR|ERBB3_ENST00000450146.2_Missense_Mutation_p.L47M	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	690					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CATAGAGCCTCTGGACCCCAG	0.502000													7	176					0.00198382	0.00201924	1	1	0
MED1	5469	broad.mit.edu	37	17	37564350	37564350	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:37564350G>C	ENST00000300651.6	-	17	4347	c.4124C>G	c.(4123-4125)tCt>tGt	p.S1375C	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1375	Interaction with TP53.|Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGTCTTCTTAGAAGAATCCAC	0.443000										HNSCC(31;0.082)			5	142					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76816041	76816041	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:76816041C>T	ENST00000542802.3	-	9	1325	c.882G>A	c.(880-882)ctG>ctA	p.L294L	USP36_ENST00000312010.6_Silent_p.L294L|USP36_ENST00000449938.2_5'UTR			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TCTCTCCACTCAGGACATCTG	0.458000													30	237					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58830995	58830995	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr14:58830995G>A	ENST00000355431.3	+	20	2561	c.2188G>A	c.(2188-2190)Gat>Aat	p.D730N	ARID4A_ENST00000395168.3_Missense_Mutation_p.D730N|ARID4A_ENST00000431317.2_Missense_Mutation_p.D730N|ARID4A_ENST00000348476.3_Missense_Mutation_p.D730N	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	730					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						TTTGAATGATGATAAGCTAGA	0.289000													30	37					0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46727052	46727052	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:46727052G>A	ENST00000371975.4	+	8	1560	c.886G>A	c.(886-888)Gac>Aac	p.D296N	RAD54L_ENST00000473251.1_3'UTR|RAD54L_ENST00000442598.1_Missense_Mutation_p.D296N	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	296	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GGTCATATGTGACGAGGTACT	0.498000								Direct reversal of damage;Homologous recombination					15	26					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72064581	72064581	+	Silent	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:72064581C>G	ENST00000265381.4	-	10	2322	c.2100G>C	c.(2098-2100)ctG>ctC	p.L700L		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	700	PDZ 1.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CACCGATATTCAGCTTCCCAG	0.527000													28	154					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47454780	47454780	+	Silent	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:47454780G>C	ENST00000398879.1	-	11	864	c.498C>G	c.(496-498)ctC>ctG	p.L166L	TNS3_ENST00000458317.2_Silent_p.L166L|TNS3_ENST00000442536.2_Silent_p.L166L|TNS3_ENST00000311160.9_Silent_p.L166L|TNS3_ENST00000355730.3_Silent_p.L166L			Q68CZ2	TENS3_HUMAN	tensin 3	166	Phosphatase tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ATCCGGACAGGAGCCCACTGA	0.542000													28	13					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25924824	25924824	+	Silent	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:25924824C>G	ENST00000356865.6	-	21	4275	c.4164G>C	c.(4162-4164)ctG>ctC	p.L1388L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1388					ATP biosynthetic process|regulation of cell shape	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(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CCGGTGCGCTCAGCCCCTCCA	0.682000													8	74					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59501033	59501033	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:59501033G>A	ENST00000288235.4	-	14	1776	c.1377C>T	c.(1375-1377)atC>atT	p.I459I		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	459	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GGATGCTCATGATGCCAGGAG	0.537000													68	9					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64166737	64166737	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:64166737G>C	ENST00000395391.1	+	4	1430	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	ZNF107_ENST00000423627.1_Missense_Mutation_p.E19Q|ZNF107_ENST00000344930.3_Missense_Mutation_p.E19Q			Q9UII5	ZN107_HUMAN	zinc finger protein 107	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CCTTTGGCCAGAGCAGAACAT	0.323000													31	70					0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48143764	48143764	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:48143764C>G	ENST00000405493.2	-	8	849	c.640G>C	c.(640-642)Gaa>Caa	p.E214Q	RAPGEF3_ENST00000171000.4_Missense_Mutation_p.E214Q|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.E214Q|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.E214Q|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.E256Q|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.E256Q|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.E256Q	NM_001098532.2|NM_006105.5	NP_001092002|NP_006096	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	214					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GCCGCTAATTCTCGCTTCACC	0.562000													29	248					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133948049	133948049	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr8:133948049C>T	ENST00000220616.4	+	25	5021	c.4981C>T	c.(4981-4983)Cgc>Tgc	p.R1661C	TG_ENST00000542445.1_Missense_Mutation_p.R95C|TG_ENST00000377869.1_Missense_Mutation_p.R1604C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1661					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)		TGGAAGTCTTCGCTGCCAGGT	0.483000													5	75					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19252338	19252338	+	Silent	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:19252338C>G	ENST00000527884.1	-	8	1342	c.1110G>C	c.(1108-1110)gtG>gtC	p.V370V	E2F8_ENST00000250024.4_Silent_p.V370V|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	370					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.V370V(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AAGACCGTCTCACCTCCAAAT	0.433000													4	66					0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51869162	51869162	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:51869162C>A	ENST00000371733.3	-	17	1816	c.1720G>T	c.(1720-1722)Gaa>Taa	p.E574*	EPS15_ENST00000396122.4_Nonsense_Mutation_p.E251*|EPS15_ENST00000371730.2_Nonsense_Mutation_p.E440*|EPS15_ENST00000493793.1_5'UTR	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	574					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ACCTCATTTTCATCAGTCACA	0.333000			T	MLL	ALL								14	74					0.00400662	0.00406005	1	1	0
CHRNA1	1134	broad.mit.edu	37	2	175614815	175614815	+	Silent	SNP	C	C	T	rs144020157	by1000genomes	TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:175614815C>T	ENST00000348749.5	-	7	938	c.861G>A	c.(859-861)acG>acA	p.T287T	CHRNA1_ENST00000409542.1_Silent_p.T205T|CHRNA1_ENST00000261007.5_Silent_p.T312T|CHRNA1_ENST00000409219.1_Silent_p.T287T|AC018890.6_ENST00000442996.1_RNA	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	312					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CAGCACTGGACGTGGAGGGGA	0.478000													6	56					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97867839	97867839	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:97867839G>A	ENST00000447648.2	-	9	1316	c.1017C>T	c.(1015-1017)aaC>aaT	p.N339N	TECPR1_ENST00000379795.3_Silent_p.N339N|TECPR1_ENST00000542604.1_Silent_p.N269N			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	339						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCATTCCCACGTTCACCATCG	0.572000													4	4					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149488999	149488999	+	RNA	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:149488999G>C	ENST00000378016.2	+	0	5340							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)			ACTCACCCCAGAATGGGGGCC	0.657000													28	4					0	0	1	0	0
ITM2B	9445	broad.mit.edu	37	13	48830410	48830410	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr13:48830410T>G	ENST00000378565.5	+	3	547	c.344T>G	c.(343-345)aTt>aGt	p.I115S	ITM2B_ENST00000378549.5_Intron	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	115					nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		TACCAGACAATTGAAGAAAAT	0.403000													26	142					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23914486	23914486	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr13:23914486G>C	ENST00000382298.3	-	10	4117	c.3529C>G	c.(3529-3531)Ctc>Gtc	p.L1177V	SACS_ENST00000402364.1_Missense_Mutation_p.L427V|SACS_ENST00000382292.3_Missense_Mutation_p.L1177V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1177					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)		AGATTACAGAGATCTCCTTTC	0.433000													42	35					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3078873	3078873	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:3078873C>T	ENST00000397461.1	+	17	2337	c.1953C>T	c.(1951-1953)ctC>ctT	p.L651L	CNTN4_ENST00000448906.2_Silent_p.L323L|CNTN4_ENST00000418658.1_Silent_p.L651L|CNTN4_ENST00000397459.2_Silent_p.L323L|CNTN4_ENST00000427331.1_Silent_p.L651L|CNTN4_ENST00000358480.3_Silent_p.L432L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	651	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCCCAGAACTCATTGATGGGA	0.468000													35	195					0	0	1	0	0
ZNF19	7567	broad.mit.edu	37	16	71509744	71509744	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:71509744G>A	ENST00000288177.5	-	6	961	c.706C>T	c.(706-708)Cag>Tag	p.Q236*	ZNF19_ENST00000564230.1_Nonsense_Mutation_p.Q236*|ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000565637.1_Nonsense_Mutation_p.Q194*|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000565100.2_Nonsense_Mutation_p.Q166*	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	236						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TGGATTCTCTGATGCCTGATC	0.463000													9	47					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40839850	40839850	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:40839850C>G	ENST00000264638.4	+	8	1374	c.1157C>G	c.(1156-1158)tCa>tGa	p.S386*	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	386					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTGGCAGTCTCATTTCGCTTC	0.642000													11	111					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42637866	42637866	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:42637866G>A	ENST00000372899.1	+	35	4176	c.3918G>A	c.(3916-3918)acG>acA	p.T1306T	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Silent_p.T1306T	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1306					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)			AAATGCTAACGACATTTGGAA	0.418000													21	54					0	0	1	0	0
GFOD2	81577	broad.mit.edu	37	16	67709391	67709391	+	Silent	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:67709391C>G	ENST00000268797.7	-	3	1170	c.825G>C	c.(823-825)acG>acC	p.T275T	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	275						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GCTCCTCTTGCGTGGCAGAGT	0.637000													14	45					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431628	117431628	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:117431628T>C	ENST00000160373.3	-	4	1713	c.1622A>G	c.(1621-1623)aAt>aGt	p.N541S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	541	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGGAGGAGGATTTCCTCTGTC	0.547000													26	188					0	0	1	0	0
TCF25	22980	broad.mit.edu	37	16	89961497	89961497	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:89961497G>A	ENST00000263346.8	+	8	936	c.880G>A	c.(880-882)Gat>Aat	p.D294N	TCF25_ENST00000263347.7_Missense_Mutation_p.D59N	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	294					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GCAGCTCAGCGATGCCTGCCG	0.607000													4	40					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167645134	167645134	+	Missense_Mutation	SNP	G	G	A	rs78965008	by1000genomes	TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:167645134G>A	ENST00000519204.1	+	22	3993	c.3875G>A	c.(3874-3876)cGt>cAt	p.R1292H	TENM2_ENST00000520394.1_Missense_Mutation_p.R1174H|TENM2_ENST00000518659.1_Missense_Mutation_p.R1413H|TENM2_ENST00000403607.2_Missense_Mutation_p.R1237H|TENM2_ENST00000545108.1_Missense_Mutation_p.R1412H					teneurin transmembrane protein 2																		CCACAGGTTCGTCTGGAGTGG	0.428000													15	76					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18028546	18028546	+	Splice_Site	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:18028546G>A	ENST00000205890.5	+	4	4094		c.e4+1			NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA						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)					CCTCATCTACGTAAGGCCTGG	0.602000													55	30					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140648655	140648655	+	Silent	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:140648655C>G	ENST00000460843.1	+	8	1308	c.1281C>G	c.(1279-1281)ctC>ctG	p.L427L	EHMT1_ENST00000334856.6_Silent_p.L396L|EHMT1_ENST00000462484.1_Silent_p.L427L|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	427					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)		AGAAATTTCTCAAGAGGAAAG	0.512000													6	161					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211525318	211525318	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:211525318A>G	ENST00000233072.5	+	32	4062	c.3866A>G	c.(3865-3867)gAt>gGt	p.D1289G	CPS1_ENST00000430249.2_Missense_Mutation_p.D1295G|CPS1_ENST00000451903.2_Missense_Mutation_p.D838G	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1289					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GAGAATGTTGATGAGAAACAT	0.388000													82	19					0	0	1	0	0
RANBP3	8498	broad.mit.edu	37	19	5923856	5923856	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:5923856C>A	ENST00000340578.6	-	12	1123	c.1066G>T	c.(1066-1068)Gag>Tag	p.E356*	RANBP3_ENST00000034275.8_Nonsense_Mutation_p.E288*|RANBP3_ENST00000541471.1_Nonsense_Mutation_p.E228*|RANBP3_ENST00000591092.1_Nonsense_Mutation_p.E283*|RANBP3_ENST00000439268.2_Nonsense_Mutation_p.E351*	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	356					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						GACGAGGACTCAGACCCTGAC	0.552000													4	36					0.00909568	0.00920332	1	1	0
OR5M1	390168	broad.mit.edu	37	11	56380308	56380308	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:56380308G>A	ENST00000526538.1	-	1	670	c.671C>T	c.(670-672)gCg>gTg	p.A224V		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CCTGAAGATCGCTGCAAAAAT	0.443000													4	79					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618663	77618663	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr8:77618663G>C	ENST00000521891.2	+	2	2788	c.2340G>C	c.(2338-2340)agG>agC	p.R780S	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R780S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R780S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R780S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	780						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)			ATGTCGCCAGGAACCTCCGAA	0.498000										HNSCC(33;0.089)			4	51					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134321872	134321872	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:134321872G>C	ENST00000357304.4	+	6	753	c.698G>C	c.(697-699)aGg>aCg	p.R233T	PRRC2B_ENST00000458550.1_Missense_Mutation_p.R233T|PRRC2B_ENST00000405995.1_Missense_Mutation_p.R233T	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	233							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTGGGCAGCAGGAACTCGAGT	0.597000													10	39					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171323173	171323173	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:171323173G>A	ENST00000334231.6	+	25	2993	c.2993G>A	c.(2992-2994)cGc>cAc	p.R998H	MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Missense_Mutation_p.R989H|MYO3B_ENST00000408978.4_Missense_Mutation_p.R989H			Q8WXR4	MYO3B_HUMAN	myosin IIIB	989	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GTCAGCATCCGCCGCCAGGGC	0.522000													9	71					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43234015	43234015	+	Silent	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:43234015C>G	ENST00000327495.5	-	4	1087	c.903G>C	c.(901-903)acG>acC	p.T301T	PSG3_ENST00000595140.1_Silent_p.T301T	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	301	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TTTCATTTCTCGTGACACTGG	0.483000													35	271					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582526	136582526	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:136582526G>A	ENST00000531224.1	-	12	2886	c.2634C>T	c.(2632-2634)ttC>ttT	p.F878F	BCLAF1_ENST00000392348.2_Silent_p.F827F|BCLAF1_ENST00000031135.9_Silent_p.F96F|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Silent_p.F829F|BCLAF1_ENST00000353331.4_Silent_p.F827F|BCLAF1_ENST00000530767.1_Silent_p.F705F|BCLAF1_ENST00000527759.1_Silent_p.F876F	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	878					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTGATTTTTTGAAGTTAAAGC	0.428000													7	315					0	0	1	0	0
HSCB	150274	broad.mit.edu	37	22	29153142	29153142	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr22:29153142G>A	ENST00000216027.3	+	6	758	c.693G>A	c.(691-693)aaG>aaA	p.K231K	HSCB_ENST00000495977.1_3'UTR|HSCB_ENST00000398941.2_3'UTR	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	231					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						TCAAGTTAAAGAAGATTCCCC	0.363000													12	44					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198274548	198274548	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:198274548C>T	ENST00000335508.6	-	7	941	c.850G>A	c.(850-852)Gca>Aca	p.A284T		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa		Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.A284T(1)		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)			CTGGAAGTTGCGCCTCCATGG	0.517000			Mis		myelodysplastic syndrome								5	382					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818881	159818881	+	RNA	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:159818881C>T	ENST00000497452.1	-	0	517																											ggggagaaaacggagaagagt	0.458000													118	393					0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72897478	72897478	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:72897478G>A	ENST00000361138.5	+	7	1018	c.960G>A	c.(958-960)ttG>ttA	p.L320L		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	320					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GTCACAATTTGGAGGCTCGAA	0.338000													21	62					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75865414	75865414	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:75865414C>G	ENST00000322507.8	-	16	3716	c.3407G>C	c.(3406-3408)gGa>gCa	p.G1136A	COL12A1_ENST00000483888.2_Missense_Mutation_p.G1136A|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.G1136A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1136	Fibronectin type-III 8.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTCATAGGGTCCAACCACTAA	0.443000													52	199					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151962165	151962165	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:151962165G>T	ENST00000355193.2	-	8	1360	c.1142C>A	c.(1141-1143)gCa>gAa	p.A381E	KMT2C_ENST00000262189.6_Missense_Mutation_p.A381E					lysine (K)-specific methyltransferase 2C																		TTGCCAACCTGCACGTTTTAA	0.438000													46	511					3.21867e-24	3.56819e-24	1	1	0
PAXBP1	94104	broad.mit.edu	37	21	34113884	34113884	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr21:34113884T>G	ENST00000290178.4	-	16	2383	c.2384A>C	c.(2383-2385)aAa>aCa	p.K795T	PAXBP1_ENST00000331923.4_Intron|PAXBP1-AS1_ENST00000440052.1_RNA	NM_013329.3	NP_037461.2			PAX3 and PAX7 binding protein 1																		gcagcattctttccttctggg	0.453000													12	35					0	0	1	0	0
PHF5A	84844	broad.mit.edu	37	22	41856450	41856450	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr22:41856450C>G	ENST00000216252.3	-	4	356	c.285G>C	c.(283-285)aaG>aaC	p.K95N	PHF5A_ENST00000491254.1_5'UTR	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	95					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(1)	4						AGAGGTCTGTCTTAGAGCTCC	0.488000													5	101					0	0	1	0	0
C11orf54	28970	broad.mit.edu	37	11	93487186	93487186	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:93487186C>G	ENST00000528288.1	+	5	548	c.313C>G	c.(313-315)Ctc>Gtc	p.L105V	C11orf54_ENST00000528099.1_Missense_Mutation_p.L105V|C11orf54_ENST00000331239.4_Missense_Mutation_p.L105V|C11orf54_ENST00000540113.1_Missense_Mutation_p.L86V|C11orf54_ENST00000354421.3_Missense_Mutation_p.L105V	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	105						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATTTCAGACTCTCGGGTTCAA	0.353000													22	120					0	0	1	0	0
HTR3B	9177	broad.mit.edu	37	11	113780031	113780031	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:113780031G>T	ENST00000260191.2	+	2	324	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	HTR3B_ENST00000537778.1_Missense_Mutation_p.D12Y	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	23					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TCTAGCCACAGATACACATCA	0.418000													15	79					6.94344e-10	7.36328e-10	1	1	0
CCT6P1	643253	broad.mit.edu	37	7	65220853	65220853	+	RNA	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:65220853G>A	ENST00000442266.1	+	0	369																											AGTAAGCAGAGAGATGGACAA	0.388000													6	43					0	0	1	0	0
SPINT1	6692	broad.mit.edu	37	15	41136955	41136955	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:41136955C>T	ENST00000344051.4	+	2	437	c.203C>T	c.(202-204)tCg>tTg	p.S68L	SPINT1_ENST00000562057.1_Missense_Mutation_p.S68L|SPINT1_ENST00000431806.1_Missense_Mutation_p.S68L			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	68	MANSC.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		ACCAACGCCTCGGTCAGCAAC	0.716000													6	37					0	0	1	0	0
CA4	762	broad.mit.edu	37	17	58227417	58227417	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:58227417C>T	ENST00000300900.4	+	1	121	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	8					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	GCTGGCGCTCCTGGCCCTCTC	0.761000													24	11					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43510466	43510466	+	Silent	SNP	A	A	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr21:43510466A>G	ENST00000400424.2	+	6	1029	c.633A>G	c.(631-633)gcA>gcG	p.A211A	UMODL1_ENST00000400427.1_Silent_p.A211A|UMODL1_ENST00000408989.2_Silent_p.A283A|UMODL1_ENST00000408910.2_Silent_p.A283A	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1							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						AACTGTGCGCAAACCTGGAGG	0.567000													44	131					0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	119122470	119122470	+	Silent	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr8:119122470C>A	ENST00000378204.2	-	1	1622	c.816G>T	c.(814-816)ctG>ctT	p.L272L		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	272					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CTATCCCTGTCAGGTACCTCT	0.522000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				18	51					1.67942e-08	1.76999e-08	1	1	0
TNRC6B	23112	broad.mit.edu	37	22	40661958	40661958	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr22:40661958G>C	ENST00000454349.2	+	5	1935	c.1724G>C	c.(1723-1725)gGa>gCa	p.G575A	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.G575A|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	575					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CAAAGCACTGGAAGCAACCAC	0.542000													28	53					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43520182	43520182	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:43520182G>A	ENST00000405006.4	-	32	4960	c.4609C>T	c.(4609-4611)Cgg>Tgg	p.R1537W	THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Missense_Mutation_p.R1537W|THADA_ENST00000415080.2_Missense_Mutation_p.R1218W	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1537							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTCGTCTCCCGCTCTCCACTC	0.577000													9	48					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945589	16945589	+	RNA	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:16945589G>T	ENST00000412962.1	-	0	1930																											GACTCCTTCAGAGACAAGGCC	0.602000													27	1038					1.50039e-11	1.60605e-11	1	1	0
DGKH	160851	broad.mit.edu	37	13	42793397	42793397	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr13:42793397C>A	ENST00000261491.5	+	27	3266	c.3245C>A	c.(3244-3246)tCc>tAc	p.S1082Y	DGKH_ENST00000538674.1_Missense_Mutation_p.S837Y|DGKH_ENST00000379274.2_Missense_Mutation_p.S946Y|DGKH_ENST00000337343.4_Missense_Mutation_p.S1082Y|DGKH_ENST00000536612.1_Missense_Mutation_p.S946Y|DGKH_ENST00000540693.1_Missense_Mutation_p.S1082Y|DGKH_ENST00000498255.2_3'UTR	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GAGCGAGTATCCAATGCCTTA	0.403000													30	243					5.45727e-16	5.91564e-16	1	1	0
HACL1	26061	broad.mit.edu	37	3	15642949	15642949	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:15642949C>G	ENST00000321169.5	-	1	389	c.22G>C	c.(22-24)Gag>Cag	p.E8Q	HACL1_ENST00000456194.2_Missense_Mutation_p.E8Q|HACL1_ENST00000457447.2_Missense_Mutation_p.E8Q|HACL1_ENST00000451445.2_Missense_Mutation_p.E8Q|HACL1_ENST00000435217.2_Missense_Mutation_p.E8Q	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	8					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						TCGCTGCGCTCTGCGAAGTTA	0.552000													17	104					0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4126442	4126442	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:4126442C>T	ENST00000465828.1	-	6	796	c.511G>A	c.(511-513)Gat>Aat	p.D171N	ECI2_ENST00000361538.2_Missense_Mutation_p.D171N|ECI2_ENST00000380118.3_Missense_Mutation_p.D201N|ECI2_ENST00000413766.2_Missense_Mutation_p.D34N|C6orf201_ENST00000333388.5_Intron|C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000380125.2_Missense_Mutation_p.D171N			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	201	ECH-like.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						TTAGTCAGATCATTCCCACTA	0.383000													13	61					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120628514	120628514	+	Silent	SNP	T	T	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr8:120628514T>G	ENST00000427067.2	-	8	936	c.756A>C	c.(754-756)ggA>ggC	p.G252G	ENPP2_ENST00000522826.1_Silent_p.G256G|ENPP2_ENST00000259486.6_Silent_p.G256G|ENPP2_ENST00000075322.6_Silent_p.G256G			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	256	Substrate binding (By similarity).				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCGGTTGACCTCCCCACCATC	0.383000													44	86					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43526707	43526707	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr18:43526707C>T	ENST00000282041.5	-	7	1633	c.1599G>A	c.(1597-1599)atG>atA	p.M533I		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	533					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CGCTGGGCTTCATGTGGCACA	0.488000													5	118					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38651274	38651274	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:38651274C>T	ENST00000413689.1	-	7	1078	c.885G>A	c.(883-885)gaG>gaA	p.E295E	SCN5A_ENST00000425664.1_Silent_p.E295E|SCN5A_ENST00000423572.2_Silent_p.E295E|SCN5A_ENST00000333535.4_Silent_p.E295E|SCN5A_ENST00000450102.2_Silent_p.E295E|SCN5A_ENST00000449557.2_Silent_p.E295E|SCN5A_ENST00000451551.2_Silent_p.E295E|SCN5A_ENST00000443581.1_Silent_p.E295E|SCN5A_ENST00000455624.2_Silent_p.E295E|SCN5A_ENST00000414099.2_Silent_p.E295E	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	295					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)	AGCCGTCGGCCTCCACGGAGC	0.602000													5	77					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761720	96761720	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr4:96761720G>A	ENST00000295266.4	+	1	482	c.419G>A	c.(418-420)aGa>aAa	p.R140K		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	140					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ACGGGAAGAAGAGGAGGTTGT	0.532000													33	70					0	0	1	0	0
AGMO	392636	broad.mit.edu	37	7	15427101	15427101	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:15427101G>A	ENST00000342526.3	-	9	1056	c.887C>T	c.(886-888)tCt>tTt	p.S296F		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	296					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AAATATGACAGAAAACTTATT	0.388000													34	111					0	0	1	0	0
SLC22A4	6583	broad.mit.edu	37	5	131670448	131670448	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:131670448G>C	ENST00000200652.3	+	7	1258	c.1084G>C	c.(1084-1086)Gat>Cat	p.D362H	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	362					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TCTGTCTCTGGATGCTCCTAA	0.433000													383	166					0	0	1	0	0
C17orf80	55028	broad.mit.edu	37	17	71231847	71231847	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:71231847G>A	ENST00000359042.2	+	3	420	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	C17orf80_ENST00000255557.4_Missense_Mutation_p.E76K|C17orf80_ENST00000268942.8_Missense_Mutation_p.E76K|C17orf80_ENST00000535032.2_Missense_Mutation_p.E76K|C17orf80_ENST00000426147.2_Missense_Mutation_p.E76K|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000577615.1_Missense_Mutation_p.E76K|C17orf80_ENST00000582793.1_Intron	NM_017941.4	NP_060411	Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	76						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			AGAGAATGAAGAAAGAAATTC	0.423000													5	74					0	0	1	0	0
NELFB	25920	broad.mit.edu	37	9	140157650	140157650	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:140157650C>G	ENST00000343053.4	+	5	1096	c.759C>G	c.(757-759)atC>atG	p.I253M		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		TGGGTGAAATCTGCACCGTGG	0.637000													13	89					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36534667	36534667	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:36534667G>C	ENST00000273183.3	+	6	1012	c.712G>C	c.(712-714)Gag>Cag	p.E238Q	STAC_ENST00000457375.2_Missense_Mutation_p.E177Q|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	238					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GGAGGTTCCTGAGGAAGCCAA	0.483000													12	90					0	0	1	0	0
FAM92B	339145	broad.mit.edu	37	16	85143910	85143910	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:85143910G>A	ENST00000539556.1	-	2	332	c.177C>T	c.(175-177)tcC>tcT	p.S59S		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	59										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						CGGGGTTCTCGGAGTTGGCAA	0.677000													47	25					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231282316	231282316	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:231282316G>C	ENST00000264052.5	+	2	398	c.43G>C	c.(43-45)Gaa>Caa	p.E15Q	SP100_ENST00000340126.4_Missense_Mutation_p.E15Q|SP100_ENST00000409112.1_Missense_Mutation_p.E15Q|SP100_ENST00000409824.1_Intron|SP100_ENST00000427101.2_Intron|SP100_ENST00000341950.4_Missense_Mutation_p.E15Q|SP100_ENST00000409341.1_Missense_Mutation_p.E15Q|SP100_ENST00000409897.1_5'UTR	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	15					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|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)		gaggctgaatgaatgtatttc	0.358000													13	83					0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	157000469	157000469	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:157000469G>A	ENST00000348165.5	+	13	2009	c.1649G>A	c.(1648-1650)cGa>cAa	p.R550Q		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	550					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CGATGCCTTCGAGATGCATGC	0.383000													21	83					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4433273	4433273	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:4433273G>A	ENST00000301280.5	+	13	2511	c.2410G>A	c.(2410-2412)Gag>Aag	p.E804K	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	804	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCATTTCCGAGAACTCAGT	0.652000								Chromatin Structure					47	72					0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16350395	16350395	+	Missense_Mutation	SNP	G	G	C	rs17855678		TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:16350395G>C	ENST00000375692.1	+	4	329	c.201G>C	c.(199-201)atG>atC	p.M67I	CLCNKA_ENST00000331433.4_Missense_Mutation_p.M67I|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.M67I|CLCNKA_ENST00000420078.1_Missense_Mutation_p.M67I			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	67			M -> I (in dbSNP:rs17855678).		excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		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)	Niflumic Acid(DB04552)	GCTATGCCATGAACTTTGCCA	0.597000													12	106					0	0	1	0	0
OIP5	11339	broad.mit.edu	37	15	41624541	41624541	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:41624541C>G	ENST00000220514.3	-	1	278	c.219G>C	c.(217-219)gaG>gaC	p.E73D		NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	73					cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding			endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CAGCGCACCTCTCAGGCTGCA	0.711000													25	53					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7645641	7645641	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:7645641G>C	ENST00000340209.4	+	5	871	c.574G>C	c.(574-576)Gag>Cag	p.E192Q	RBFOX1_ENST00000436368.2_Missense_Mutation_p.E207Q|RBFOX1_ENST00000422070.4_Missense_Mutation_p.E230Q|RBFOX1_ENST00000552089.1_Missense_Mutation_p.E204Q|RBFOX1_ENST00000355637.4_Missense_Mutation_p.E207Q|RBFOX1_ENST00000547338.1_Missense_Mutation_p.E187Q|RBFOX1_ENST00000311745.5_Missense_Mutation_p.E207Q|RBFOX1_ENST00000553186.1_Missense_Mutation_p.E187Q|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000550418.1_Missense_Mutation_p.E187Q|RBFOX1_ENST00000547372.1_Missense_Mutation_p.E230Q			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	187	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.E207K(2)		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						CCGTAAAATCGAGGTGCATGT	0.448000													36	258					0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148851196	148851196	+	Missense_Mutation	SNP	C	C	T	rs145157368		TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:148851196C>T	ENST00000475153.1	+	2	451	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.R67W|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000426851.2_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	62					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GATCCACAGCCGGCGACTCCT	0.577000													54	10					0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73947643	73947643	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:73947643C>T	ENST00000537812.1	-	8	1494	c.846G>A	c.(844-846)caG>caA	p.Q282Q	ACOX1_ENST00000293217.5_Silent_p.Q320Q|ACOX1_ENST00000301608.4_Silent_p.Q320Q	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	320					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						AATCCAAAATCTGTGGTTCTG	0.403000													6	128					0	0	1	0	0
VPS33B	26276	broad.mit.edu	37	15	91549610	91549610	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:91549610C>T	ENST00000333371.3	-	11	1197	c.844G>A	c.(844-846)Gag>Aag	p.E282K	VPS33B_ENST00000535906.1_Missense_Mutation_p.E255K|VPS33B_ENST00000535843.1_Missense_Mutation_p.E191K	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	282					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					ACCTTGTCCTCGGCATTGAGT	0.577000													6	101					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34628837	34628837	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:34628837G>T	ENST00000354181.3	-	2	537	c.45C>A	c.(43-45)ttC>ttA	p.F15L	SLC12A6_ENST00000560611.1_Missense_Mutation_p.F15L|SLC12A6_ENST00000397702.2_Intron|SLC12A6_ENST00000458406.2_Intron|SLC12A6_ENST00000558667.1_Missense_Mutation_p.F15L|SLC12A6_ENST00000397707.2_Missense_Mutation_p.F15L|SLC12A6_ENST00000558589.1_Missense_Mutation_p.F6L			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	15					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GTGTCACCATGAACCGAACTG	0.473000													18	80					4.63292e-17	5.06217e-17	1	1	0
NME8	51314	broad.mit.edu	37	7	37916441	37916441	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:37916441G>C	ENST00000199447.4	+	12	1198	c.826G>C	c.(826-828)Gaa>Caa	p.E276Q	NME8_ENST00000440017.1_Missense_Mutation_p.E276Q|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	276					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										CAGTTTACAAGAATATCTGGA	0.313000													14	41					0	0	1	0	0
DPH3	285381	broad.mit.edu	37	3	16306365	16306365	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:16306365C>T	ENST00000488423.1	-	1	114	c.19G>A	c.(19-21)Gag>Aag	p.E7K	DPH3_ENST00000383775.4_Missense_Mutation_p.E7K	NM_206831.2	NP_996662.1	Q96FX2	DPH3_HUMAN	diphthamide biosynthesis 3	7					negative regulation of protein secretion|peptidyl-diphthamide biosynthetic process from peptidyl-histidine|positive regulation of binding	cytoplasm|nucleus	metal ion binding|protein binding			large_intestine(2)	2						ATTTCCACCTCGTCATGAAAC	0.567000													7	69					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201038636	201038636	+	Silent	SNP	C	C	T	rs141619541	byFrequency	TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:201038636C>T	ENST00000362061.3	-	18	2680	c.2454G>A	c.(2452-2454)gcG>gcA	p.A818A	CACNA1S_ENST00000367338.3_Silent_p.A818A	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	818					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)	TGGGGTCTTCCGCAGCCAGTG	0.607000													4	11					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61528530	61528530	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:61528530C>G	ENST00000398571.2	-	28	3953	c.3877G>C	c.(3877-3879)Gat>Cat	p.D1293H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1293					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GCTTTTTCATCATAATCTGTT	0.338000													30	150					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183695389	183695389	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:183695389G>A	ENST00000334444.6	-	10	1560	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Silent_p.F440F	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	440	ABC transmembrane type-1 1.					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)			TCATGGAATTGAAGACTGTCA	0.428000													21	74					0	0	1	0	0
GTF2I	2969	broad.mit.edu	37	7	74129183	74129183	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:74129183C>G	ENST00000324896.4	+	10	1159	c.770C>G	c.(769-771)cCt>cGt	p.P257R	GTF2I_ENST00000353920.4_Intron|GTF2I_ENST00000416070.1_Intron|GTF2I_ENST00000443166.1_Intron|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000346152.4_Missense_Mutation_p.P257R|AC083884.8_ENST00000434256.1_RNA|AC083884.8_ENST00000450426.2_RNA	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	257					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						AAAGCAGGCCCTTCTGAAACT	0.388000													21	174					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79175578	79175578	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr14:79175578G>C	ENST00000554719.1	+	4	612	c.121G>C	c.(121-123)Gac>Cac	p.D41H	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.D41H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TAAGAATAATGACATCCGTCT	0.453000													12	45					0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57138417	57138417	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:57138417G>A	ENST00000376149.3	-	12	1438	c.629C>T	c.(628-630)tCa>tTa	p.S210L	TRIM37_ENST00000393065.2_Missense_Mutation_p.S298L|TRIM37_ENST00000393066.3_Missense_Mutation_p.S332L|TRIM37_ENST00000262294.7_Missense_Mutation_p.S332L			O94972	TRI37_HUMAN	tripartite motif containing 37	332						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CAAGCCAGCTGAGAGCTCCAG	0.338000									Mulibrey Nanism				8	32					0	0	1	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75386616	75386616	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr14:75386616G>A	ENST00000555647.1	-	4	609	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	RPS6KL1_ENST00000358328.4_Missense_Mutation_p.R108W|RPS6KL1_ENST00000554900.1_5'UTR|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.R108W|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.R108W			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	108	MIT.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		TCTGCCCGCCGCAGGTATTTG	0.632000													54	16					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98667891	98667891	+	Silent	SNP	A	A	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr13:98667891A>G	ENST00000261574.5	+	23	2667	c.2487A>G	c.(2485-2487)cgA>cgG	p.R829R	IPO5_ENST00000539640.1_Silent_p.R686R|IPO5_ENST00000490680.1_Silent_p.R811R	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	811					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						AAGAATTACGACAAGGTAAGT	0.313000													33	63					0	0	1	0	0
HLA-F	3134	broad.mit.edu	37	6	29693015	29693015	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:29693015G>C	ENST00000440587.2	+	4	823	c.464G>C	c.(463-465)gGa>gCa	p.G155A	HLA-F_ENST00000259951.7_Missense_Mutation_p.G273A|HLA-F_ENST00000376861.1_Missense_Mutation_p.G273A|HLA-F_ENST00000434407.2_Intron|HLA-F_ENST00000334668.4_Missense_Mutation_p.G273A			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	273	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GTGCCTCCTGGAGAGGAACAG	0.612000													18	50					0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82530717	82530717	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:82530717G>C	ENST00000268206.7	-	7	830	c.662C>G	c.(661-663)tCt>tGt	p.S221C	EFTUD1_ENST00000359445.3_Missense_Mutation_p.S170C	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	221					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GTAAAGGTGAGAATCATCTGT	0.448000													6	80					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													3	12					0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28488910	28488910	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:28488910G>C	ENST00000569430.1	-	17	2063	c.1244C>G	c.(1243-1245)tCt>tGt	p.S415C	CLN3_ENST00000354630.5_Missense_Mutation_p.S398C|CLN3_ENST00000565316.1_Missense_Mutation_p.S398C|CLN3_ENST00000359984.7_Missense_Mutation_p.S415C|CLN3_ENST00000535392.1_Missense_Mutation_p.S337C|CLN3_ENST00000567963.1_Missense_Mutation_p.S318C|CLN3_ENST00000355477.5_Missense_Mutation_p.S367C|CLN3_ENST00000360019.2_Missense_Mutation_p.S415C|CLN3_ENST00000333496.9_Missense_Mutation_p.S391C|CLN3_ENST00000568224.1_Missense_Mutation_p.S337C|CLN3_ENST00000357806.7_Missense_Mutation_p.S316C|CLN3_ENST00000395653.4_Missense_Mutation_p.S315C|CLN3_ENST00000357857.9_Missense_Mutation_p.S361C			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	415					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CAGTGTGTCAGAGATGCAGGT	0.617000													11	118					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	830088	830088	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:830088G>A	ENST00000293892.3	-	3	912	c.913C>T	c.(913-915)Ctt>Ttt	p.L305F	MSLNL_ENST00000442466.1_Missense_Mutation_p.L38F			Q96KJ4	MSLNL_HUMAN	mesothelin-like	38					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CCTGGGGAAAGAACCTTGGCC	0.662000													5	9					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25453361	25453361	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr13:25453361G>A	ENST00000255324.5	+	35	4862	c.4810G>A	c.(4810-4812)Gat>Aat	p.D1604N	RNF17_ENST00000339524.3_Missense_Mutation_p.D614N|RNF17_ENST00000381921.1_Missense_Mutation_p.D1562N	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1604					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATTATATGACGATGAACAGCA	0.383000													20	72					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98451339	98451339	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:98451339G>C	ENST00000186436.5	-	9	1082	c.854C>G	c.(853-855)tCt>tGt	p.S285C	TMEM131_ENST00000425805.2_Missense_Mutation_p.S236C	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	285						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TGCTTCTCTAGATGAAAAACT	0.378000													20	140					0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132684	59132684	+	Silent	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:59132684C>G	ENST00000313940.2	+	1	800	c.753C>G	c.(751-753)ctC>ctG	p.L251L		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CTGTTTCCCTCTTCTATACAT	0.433000													16	109					0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1129608	1129608	+	Missense_Mutation	SNP	C	C	T	rs142959735		TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:1129608C>T	ENST00000293897.4	+	1	828	c.740C>T	c.(739-741)aCg>aTg	p.T247M	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.T247M	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	247					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CGGAAGGTGACGCGCATGGTG	0.672000													4	46					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9631616	9631616	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:9631616C>T	ENST00000285199.7	+	15	2777	c.2681C>T	c.(2680-2682)tCg>tTg	p.S894L	USP43_ENST00000570475.1_Missense_Mutation_p.S889L|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCCTGTCCCTCGGCTCAACCC	0.582000													16	5					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27959760	27959760	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:27959760C>G	ENST00000269033.3	-	15	2522	c.2371G>C	c.(2371-2373)Gag>Cag	p.E791Q	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.E818Q	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	791					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						TGGGCCCTCTCAAGGAGCAGC	0.512000													12	101					0	0	1	0	0
HOXA7	3204	broad.mit.edu	37	7	27196079	27196079	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:27196079C>G	ENST00000242159.3	-	1	219	c.86G>C	c.(85-87)tGc>tCc	p.C29S		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	29					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						AGCAAAGGAGCAAGAAGTCGG	0.532000													53	175					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58831208	58831208	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr14:58831208G>C	ENST00000355431.3	+	20	2774	c.2401G>C	c.(2401-2403)Gat>Cat	p.D801H	ARID4A_ENST00000395168.3_Missense_Mutation_p.D801H|ARID4A_ENST00000431317.2_Missense_Mutation_p.D801H|ARID4A_ENST00000348476.3_Missense_Mutation_p.D801H	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	801					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						CAAGACAAAAGATCTTTCTTT	0.333000													17	31					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21904152	21904152	+	Splice_Site	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:21904152G>C	ENST00000328843.6	+	71	11425		c.e71-1		DNAH11_ENST00000409508.3_Splice_Site			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						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						CTACTCTCAAGATTTTGTTGA	0.383000									Kartagener syndrome				4	75					0	0	1	0	0
RFPL2	10739	broad.mit.edu	37	22	32587017	32587017	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr22:32587017C>T	ENST00000400236.3	-	5	1814	c.609G>A	c.(607-609)ccG>ccA	p.P203P	RFPL2_ENST00000400237.1_Silent_p.P293P|RFPL2_ENST00000248980.4_Silent_p.P232P|RFPL2_ENST00000248983.4_Silent_p.P203P|RFPL2_ENST00000489846.1_5'UTR	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	293	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GGAAAGTCAGCGGCACCGTGG	0.527000													11	27					0	0	1	0	0
DHPS	1725	broad.mit.edu	37	19	12786939	12786939	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:12786939G>A	ENST00000210060.7	-	8	1041	c.906C>T	c.(904-906)taC>taT	p.Y302Y	DHPS_ENST00000351660.5_Intron|DHPS_ENST00000594424.1_Silent_p.Y260Y	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	302					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	TGTAAACAGCGTAGTCGGCCC	0.632000											OREG0025272	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	22					0	0	1	0	0
SYN1	6853	broad.mit.edu	37	X	47464458	47464458	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chrX:47464458C>T	ENST00000295987.7	-	5	817	c.693G>A	c.(691-693)caG>caA	p.Q231Q	SYN1_ENST00000340666.4_Silent_p.Q231Q	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	231	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						GTCGAACCATCTGGGCAAACT	0.463000													7	28					0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126343309	126343309	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:126343309C>T	ENST00000525144.2	-	5	735	c.486G>A	c.(484-486)gcG>gcA	p.A162A	KIRREL3_ENST00000525704.2_Silent_p.A162A|KIRREL3_ENST00000529097.2_Silent_p.A162A	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	162	Ig-like C2-type 2.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	p.A162A(2)|p.A121A(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GAGGGTCCCCCGCACGCAGGC	0.647000													6	4					0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8692528	8692528	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:8692528G>C	ENST00000299663.3	-	2	218	c.53C>G	c.(52-54)tCt>tGt	p.S18C	CLEC4E_ENST00000545274.1_Missense_Mutation_p.S18C|CLEC4E_ENST00000446457.2_Missense_Mutation_p.S18C	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	18						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)					CATTTGGGAAGAGAAGCATCC	0.408000													34	201					0	0	1	0	0
PAX3	5077	broad.mit.edu	37	2	223161758	223161758	+	Missense_Mutation	SNP	A	A	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:223161758A>C	ENST00000350526.4	-	2	396	c.260T>G	c.(259-261)cTg>cGg	p.L87R	PAX3_ENST00000392070.2_Missense_Mutation_p.L87R|PAX3_ENST00000336840.6_Missense_Mutation_p.L87R|PAX3_ENST00000409828.3_Missense_Mutation_p.L87R|PAX3_ENST00000392069.2_Missense_Mutation_p.L87R|PAX3_ENST00000258387.5_Missense_Mutation_p.L87R|PAX3_ENST00000409551.3_Missense_Mutation_p.L87R|PAX3_ENST00000344493.4_Missense_Mutation_p.L87R	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	87	Paired.				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTACCTGCACAGGATCTTGGA	0.667000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						4	33					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40661479	40661479	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:40661479C>T	ENST00000267889.3	+	8	3253	c.3166C>T	c.(3166-3168)Ctg>Ttg	p.L1056L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1056					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GGCCTTCTCTCTGCGCCAGAC	0.632000													22	158					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21158753	21158753	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr10:21158753G>A	ENST00000377122.4	-	6	894	c.498C>T	c.(496-498)gaC>gaT	p.D166D	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Silent_p.D166D|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	166					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTCCTGCACGTCTTTCCTAT	0.358000													3	40					0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28754498	28754498	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:28754498C>G	ENST00000225719.4	+	7	2015	c.1939C>G	c.(1939-1941)Cct>Gct	p.P647A	CPD_ENST00000543464.2_Missense_Mutation_p.P400A	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	647	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GATCACAGATCCTACGCAACC	0.398000													10	166					0	0	1	0	0
TNMD	64102	broad.mit.edu	37	X	99852500	99852500	+	Splice_Site	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chrX:99852500G>C	ENST00000373031.4	+	5	640		c.e5-1		TNMD_ENST00000485971.1_Splice_Site	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin							integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						TCTTCTTTCAGAATGAAGAAA	0.358000													28	26					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91403276	91403276	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:91403276C>T	ENST00000370440.1	-	4	3671	c.3454G>A	c.(3454-3456)Gaa>Aaa	p.E1152K	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.E1152K			Q9H582	ZN644_HUMAN	zinc finger protein 644	1152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCATCATATTCATTTAAGAAA	0.373000													22	185					0	0	1	0	0
CERS5	91012	broad.mit.edu	37	12	50528446	50528446	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:50528446G>A	ENST00000317551.6	-	9	1036	c.912C>T	c.(910-912)atC>atT	p.I304I	CERS5_ENST00000422340.2_Silent_p.I246I	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	304	TLC.				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CATAAGGCCCGATTATCTCCC	0.498000													28	123					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54096654	54096654	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:54096654T>C	ENST00000404125.1	-	44	5177	c.5122A>G	c.(5122-5124)Acc>Gcc	p.T1708A	PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Missense_Mutation_p.T852A	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1708					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCGCTTAAGGTAGTAGCAGCC	0.393000													23	120					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100496076	100496076	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr4:100496076C>G	ENST00000457717.1	+	2	266	c.10C>G	c.(10-12)Ctt>Gtt	p.L4V	MTTP_ENST00000422897.2_Missense_Mutation_p.L4V|MTTP_ENST00000511045.1_Intron|MTTP_ENST00000265517.5_Missense_Mutation_p.L4V	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	4					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)	TATGATTCTTCTTGCTGTGCT	0.433000													11	71					0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28789485	28789485	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:28789485C>G	ENST00000225719.4	+	20	3990	c.3914C>G	c.(3913-3915)tCa>tGa	p.S1305*	CPD_ENST00000543464.2_Nonsense_Mutation_p.S1058*	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1305					proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GTAACTGTATCAGGTAAAGAC	0.368000													9	106					0	0	1	0	0
PVRL3	25945	broad.mit.edu	37	3	110852704	110852704	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:110852704G>A	ENST00000485303.1	+	6	1567	c.1292G>A	c.(1291-1293)aGa>aAa	p.R431K	PVRL3_ENST00000319792.3_3'UTR|PVRL3_ENST00000493615.1_Intron	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	431					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TATAGGAGAAGACGGACGTTT	0.413000													8	235					0	0	1	0	0
FUT4	2526	broad.mit.edu	37	11	94278769	94278769	+	Silent	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:94278769G>C	ENST00000358752.2	+	1	1753	c.1470G>C	c.(1468-1470)cgG>cgC	p.R490R	RP11-867G2.8_ENST00000536540.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	490					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACTGGCGCCGGAGCTACGCTG	0.642000													26	49					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91403213	91403213	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:91403213C>G	ENST00000370440.1	-	4	3734	c.3517G>C	c.(3517-3519)Gaa>Caa	p.E1173Q	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.E1173Q			Q9H582	ZN644_HUMAN	zinc finger protein 644	1173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTAAGAAGTTCTATGAGTGTA	0.363000													17	93					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	9014268	9014268	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:9014268C>T	ENST00000344836.4	-	5	757	c.559G>A	c.(559-561)Gac>Aac	p.D187N	USP7_ENST00000535863.1_Missense_Mutation_p.D88N|USP7_ENST00000381886.4_Missense_Mutation_p.D171N	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	187	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GTAACTTTGTCATCATCTATA	0.368000													49	115					0	0	1	0	0
FAM134A	79137	broad.mit.edu	37	2	220047205	220047205	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:220047205G>C	ENST00000430297.2	+	9	1622	c.1486G>C	c.(1486-1488)Gat>Cat	p.D496H		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	496						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)		TGAGTTGCTGGATCAGGGGGA	0.622000													17	69					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744334	140744334	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:140744334C>T	ENST00000518069.1	+	1	437	c.437C>T	c.(436-438)gCg>gTg	p.A146V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.A146V(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGAAAATGCGGCTGCAGGG	0.443000													3	40					0	0	1	0	0
CD99	4267	broad.mit.edu	37	X	2658837	2658837	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chrX:2658837G>C	ENST00000381192.3	+	10	732	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	CD99_ENST00000381187.3_Missense_Mutation_p.E168Q	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	184					cell adhesion	cytoplasm|integral to plasma membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						TACTCTTTTAGAGAAATAGAA	0.527000													22	152					0	0	1	0	0
POMK	84197	broad.mit.edu	37	8	42958922	42958922	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr8:42958922G>A	ENST00000331373.5	+	4	486	c.231G>A	c.(229-231)ctG>ctA	p.L77L		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1			protein-O-mannose kinase	77																	GCGAGGAGCTGAGAACAGAAG	0.507000													17	21					0	0	1	0	0
IQCK	124152	broad.mit.edu	37	16	19838389	19838389	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:19838389G>C	ENST00000320394.6	+	9	1431	c.732G>C	c.(730-732)caG>caC	p.Q244H	IQCK_ENST00000541926.1_Missense_Mutation_p.R216T|IQCK_ENST00000562762.1_3'UTR|IQCK_ENST00000564186.1_Missense_Mutation_p.Q244H|IQCK_ENST00000433597.2_Missense_Mutation_p.Q156H	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	244										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						GTCAGTGGCAGAAGAAACTTC	0.443000													23	138					0	0	1	0	0
GGA3	23163	broad.mit.edu	37	17	73238531	73238531	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:73238531C>T	ENST00000245541.6	-	8	849	c.633G>A	c.(631-633)gtG>gtA	p.V211V	GGA3_ENST00000582717.1_Silent_p.V139V|GGA3_ENST00000538886.1_Silent_p.V89V|GGA3_ENST00000578348.1_Silent_p.V89V|GGA3_ENST00000351904.7_Silent_p.V178V|GGA3_ENST00000537686.1_3'UTR|GGA3_ENST00000582486.1_Silent_p.V139V	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	211	Binds to ARF1 (in long isoform).|GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GACGCTTGGTCACCTTCTGGA	0.527000													28	198					0	0	1	0	0
CYP2A6	1548	broad.mit.edu	37	19	41349849	41349849	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:41349849C>T	ENST00000301141.5	-	9	1357	c.1337G>A	c.(1336-1338)aGa>aAa	p.R446K	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	446					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	GAGCTCCATTCTGGCCAGGCC	0.592000													4	102					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7172370	7172370	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:7172370G>C	ENST00000341500.5	-	5	1238	c.1199C>G	c.(1198-1200)tCc>tGc	p.S400C	INSR_ENST00000302850.5_Missense_Mutation_p.S400C	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	400					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGAGCGTAGGATCGGCGGAT	0.483000													20	75					0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47839910	47839910	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr20:47839910G>A	ENST00000371764.4	+	4	508	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	167	Asp/Glu/Lys-rich.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGAAGGCTCAGAAGATGAAGC	0.498000													5	213					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90169170	90169170	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:90169170C>G	ENST00000268138.7	+	21	5585	c.5480C>G	c.(5479-5481)tCc>tGc	p.S1827C	TICRR_ENST00000560985.1_Missense_Mutation_p.S1826C|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator																		TCTTTAGGCTCCACCCCACCT	0.622000													5	77					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72997507	72997507	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr18:72997507G>A	ENST00000322038.5	+	2	594	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	TSHZ1_ENST00000580243.1_Missense_Mutation_p.E49K	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	49						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CATGTGCAATGAAGAGACGGA	0.532000													4	38					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734759	92734759	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:92734759C>T	ENST00000379958.2	-	3	921	c.652G>A	c.(652-654)Gag>Aag	p.E218K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	218						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)			CGGAAAACCTCATTGCTAAAT	0.403000													23	189					0	0	1	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17363117	17363117	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr10:17363117G>A	ENST00000377602.4	-	8	1031	c.957C>T	c.(955-957)taC>taT	p.Y319Y		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	319					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						TGGACAAGCGGTATGCAGTCA	0.443000													144	73					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6532654	6532654	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:6532654C>T	ENST00000254579.6	+	7	1951	c.1387C>T	c.(1387-1389)Cga>Tga	p.R463*	DNHD1_ENST00000527990.2_Nonsense_Mutation_p.R463*|DNHD1_ENST00000354685.3_Nonsense_Mutation_p.R463*	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	463					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATCCATTCTTCGACTGGTAAG	0.517000													49	56					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151110229	151110229	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:151110229G>A	ENST00000341697.3	-	10	2405	c.714C>T	c.(712-714)ttC>ttT	p.F238F				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	238	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			CGCGGAAGAAGAAGTAGACAT	0.557000													22	181					0	0	1	0	0
FOXC2	2303	broad.mit.edu	37	16	86601105	86601105	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:86601105C>G	ENST00000320354.4	+	1	249	c.164C>G	c.(163-165)tCc>tGc	p.S55C	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	55					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ATGGGCCGCTCCTACGCGCCC	0.677000									Late-onset Hereditary Lymphedema				7	56					0	0	1	0	0
SNTN	132203	broad.mit.edu	37	3	63638439	63638439	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:63638439A>G	ENST00000496807.1	+	1	66	c.64A>G	c.(64-66)Aca>Gca	p.T22A	SNTN_ENST00000343837.3_Missense_Mutation_p.T26A			A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	26						cilium	calcium ion binding			endometrium(2)|ovary(1)	3						TGCAGCCCCAACATCCACCTG	0.458000													28	33					0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3475544	3475544	+	Splice_Site	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:3475544C>T	ENST00000174621.6	-	13	2387		c.e13-1		TRPV1_ENST00000310522.5_Splice_Site|TRPV1_ENST00000576351.1_Splice_Site|SHPK_ENST00000572705.1_Splice_Site|TRPV1_ENST00000425167.2_Splice_Site|TRPV1_ENST00000399756.4_Splice_Site|TRPV1_ENST00000399759.3_Splice_Site|TRPV1_ENST00000571088.1_Splice_Site			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1						cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TGATGGCTCTCTGCAGGAAGA	0.632000													8	2					0	0	1	0	0
ZNF620	253639	broad.mit.edu	37	3	40557467	40557467	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:40557467G>C	ENST00000314529.6	+	5	531	c.382G>C	c.(382-384)Gac>Cac	p.D128H	ZNF620_ENST00000418905.1_Missense_Mutation_p.D14H	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CCAGCACCTTGACTTTGGGAG	0.493000													28	56					0	0	1	0	0
NR1H2	7376	broad.mit.edu	37	19	50882296	50882296	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:50882296C>T	ENST00000253727.5	+	7	1020	c.785C>T	c.(784-786)gCc>gTc	p.A262V	NR1H2_ENST00000598168.1_Intron|NR1H2_ENST00000599105.1_Intron|NR1H2_ENST00000593926.1_Missense_Mutation_p.A262V|NR1H2_ENST00000411902.2_Missense_Mutation_p.A165V|NR1H2_ENST00000542413.1_Intron	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	262	Ligand-binding (Potential).				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TCCCGAGATGCCCGCCAGCAA	0.632000													5	251					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39914706	39914706	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:39914706C>G	ENST00000425673.1	+	17	3171	c.2846C>G	c.(2845-2847)cCa>cGa	p.P949R	PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P978R|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P919R|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	978					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)			CAAGGCCACCCAGAAATCCAA	0.567000													7	267					0	0	1	0	0
GNE	10020	broad.mit.edu	37	9	36246351	36246351	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:36246351A>T	ENST00000396594.3	-	3	497	c.386T>A	c.(385-387)gTc>gAc	p.V129D	GNE_ENST00000539208.1_Missense_Mutation_p.V39D|GNE_ENST00000377902.5_Missense_Mutation_p.V98D|GNE_ENST00000539815.1_Missense_Mutation_p.V98D|GNE_ENST00000543356.2_Missense_Mutation_p.V93D|GNE_ENST00000447283.2_Missense_Mutation_p.V98D	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	98					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			GCGATTAAGGACATCTGGCAG	0.507000													8	67					0	0	1	0	0
USP1	7398	broad.mit.edu	37	1	62916591	62916591	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:62916591C>T	ENST00000339950.4	+	9	3112	c.2297C>T	c.(2296-2298)tCt>tTt	p.S766F	USP1_ENST00000371146.1_Missense_Mutation_p.S766F	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	766					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		TTTCTGAATTCTCTTTCCCCT	0.353000													5	82					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104898096	104898096	+	Silent	SNP	T	T	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr8:104898096T>C	ENST00000507740.1	+	2	929	c.693T>C	c.(691-693)tcT>tcC	p.S231S	RIMS2_ENST00000436393.2_Silent_p.S201S|RIMS2_ENST00000406091.3_Silent_p.S423S|RIMS2_ENST00000262231.10_Silent_p.S231S	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	454					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S231S(3)|p.S459S(2)|p.S201S(2)		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)			GACCAAGTTCTTATGCACAAA	0.478000										HNSCC(12;0.0054)			55	57					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905318	144905318	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chrX:144905318A>T	ENST00000370490.1	+	1	5630	c.1375A>T	c.(1375-1377)Att>Ttt	p.I459F	SLITRK2_ENST00000413937.2_Missense_Mutation_p.I459F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.I459F|SLITRK2_ENST00000434188.2_Missense_Mutation_p.I459F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.I459F			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	459						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GTATAATGTCATTAAGGAAAT	0.378000													108	20					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165953900	165953900	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:165953900C>T	ENST00000360093.3	-	23	4592	c.4101G>A	c.(4099-4101)atG>atA	p.M1367I	SCN3A_ENST00000409101.3_Missense_Mutation_p.M1318I|SCN3A_ENST00000283254.7_Missense_Mutation_p.M1367I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1367						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TACCCGTTGTCATGTTAACAC	0.413000													8	78					0	0	1	0	0
STOML1	9399	broad.mit.edu	37	15	74277055	74277055	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:74277055G>T	ENST00000316900.5	-	6	1072	c.948C>A	c.(946-948)ttC>ttA	p.F316L	STOML1_ENST00000561656.1_Missense_Mutation_p.F228L|STOML1_ENST00000359750.4_Intron|STOML1_ENST00000316911.6_Missense_Mutation_p.F266L|STOML1_ENST00000541638.1_Missense_Mutation_p.F273L|STOML1_ENST00000564777.1_Missense_Mutation_p.F265L	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	316	SCP2.					integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GGACGACATTGAACTGGTAGC	0.632000													13	78					0.000219431	0.000226041	1	1	0
IL1RAP	3556	broad.mit.edu	37	3	190341199	190341199	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:190341199A>G	ENST00000412504.2	+	6	1022	c.770A>G	c.(769-771)gAa>gGa	p.E257G	IL1RAP_ENST00000434491.1_Missense_Mutation_p.E116G|IL1RAP_ENST00000447382.1_Missense_Mutation_p.E257G|IL1RAP_ENST00000317757.3_Missense_Mutation_p.E257G|IL1RAP_ENST00000443369.2_Missense_Mutation_p.E257G|IL1RAP_ENST00000422940.1_Missense_Mutation_p.E257G|IL1RAP_ENST00000072516.3_Missense_Mutation_p.E257G|IL1RAP_ENST00000439062.1_Missense_Mutation_p.E257G|IL1RAP_ENST00000422485.1_Missense_Mutation_p.E257G			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	257	Ig-like C2-type 3.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TATGAGAAAGAACCAGGTAAT	0.358000													24	73					0	0	1	0	0
DDX17	10521	broad.mit.edu	37	22	38882080	38882080	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr22:38882080G>C	ENST00000396821.3	-	13	2155	c.2056C>G	c.(2056-2058)Cgg>Ggg	p.R686G	DDX17_ENST00000444597.1_Missense_Mutation_p.R136G|DDX17_ENST00000381633.3_Missense_Mutation_p.R607G	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	605					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.R684G(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TGCCCAGACCGGCCTATCCCA	0.522000													26	80					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7676019	7676019	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:7676019C>T	ENST00000446248.2	+	11	1270	c.1169C>T	c.(1168-1170)tCt>tTt	p.S390F	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.S363F	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	363					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CTTCTGTCATCTGGTGGCCCC	0.662000													10	77					0	0	1	0	0
COPG1	22820	broad.mit.edu	37	3	128971204	128971204	+	Splice_Site	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:128971204G>A	ENST00000314797.6	+	3	275	c.171G>A	c.(169-171)caG>caA	p.Q57Q		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	57					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										TCATAAACCAGGTAACAGGGT	0.478000													43	68					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32733132	32733132	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:32733132C>T	ENST00000421745.2	+	51	9920	c.9786C>T	c.(9784-9786)ctC>ctT	p.L3262L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3262					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAAGTGGCCTCACCTACATAA	0.453000													9	44					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187240	12187240	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:12187240C>T	ENST00000439326.3	+	4	1480	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						CACTTCCTTTCGATATCATGA	0.438000													49	42					0	0	1	0	0
SETD7	80854	broad.mit.edu	37	4	140441498	140441498	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr4:140441498G>C	ENST00000274031.3	-	6	1331	c.695C>G	c.(694-696)tCa>tGa	p.S232*	SETD7_ENST00000506866.2_Nonsense_Mutation_p.S232*	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	232	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					AGCTACCTTTGAAAAAAGTCC	0.373000													25	83					0	0	1	0	0
CNOT6	57472	broad.mit.edu	37	5	179991566	179991566	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:179991566G>C	ENST00000393356.1	+	7	887	c.463G>C	c.(463-465)Gat>Cat	p.D155H	CNOT6_ENST00000261951.4_Missense_Mutation_p.D155H|CNOT6_ENST00000502447.1_3'UTR			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	155					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CTATTTGCTTGATAATTTGTC	0.328000													36	118					0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154517455	154517455	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr4:154517455C>G	ENST00000409959.3	+	20	2090	c.2041C>G	c.(2041-2043)Ctg>Gtg	p.L681V	KIAA0922_ENST00000440693.1_Missense_Mutation_p.L597V|KIAA0922_ENST00000409663.3_Missense_Mutation_p.L680V	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	680						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CCACTTACATCTGCAGCCTTT	0.433000													23	126					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147128304	147128304	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:147128304G>A	ENST00000282928.4	+	1	1134	c.405G>A	c.(403-405)acG>acA	p.T135T		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	135					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACGGCCACACGGACGCCGCGG	0.721000													26	20					0	0	1	0	0
SLC44A1	23446	broad.mit.edu	37	9	108125182	108125182	+	Silent	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:108125182C>G	ENST00000374720.3	+	9	1228	c.981C>G	c.(979-981)gtC>gtG	p.V327V	SLC44A1_ENST00000343170.7_Silent_p.V119V|SLC44A1_ENST00000374724.1_Silent_p.V327V|SLC44A1_ENST00000374723.1_Silent_p.V327V	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	327						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	CTGGCAAGGTCTTCATTCACT	0.443000													37	175					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153905783	153905783	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:153905783G>A	ENST00000361217.4	-	21	3761	c.3343C>T	c.(3343-3345)Ctg>Ttg	p.L1115L		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1115	Ser-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCACTGCCCAGAGAGGCTGAG	0.557000													6	25					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975342	20975342	+	Silent	SNP	G	G	A	rs142743875	byFrequency	TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:20975342G>A	ENST00000261383.3	-	53	9863	c.9864C>T	c.(9862-9864)gaC>gaT	p.D3288D	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3288					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)		TCCGAGTCTCGTCAATCTGCG	0.498000													37	165					0	0	1	0	0
SETMAR	6419	broad.mit.edu	37	3	4345157	4345157	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:4345157G>T	ENST00000358065.4	+	1	170	c.103G>T	c.(103-105)Gaa>Taa	p.E35*	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Nonsense_Mutation_p.E35*|SETMAR_ENST00000430981.1_Nonsense_Mutation_p.E35*	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	22	Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		GTGCGGCCAGGAAAACTTGCC	0.741000								Chromatin Structure					5	14					1	1	1	1	0
TTC14	151613	broad.mit.edu	37	3	180325518	180325518	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:180325518G>C	ENST00000412756.2	+	10	1324	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q	TTC14_ENST00000296015.4_Missense_Mutation_p.E419Q|TTC14_ENST00000382584.4_Missense_Mutation_p.E419Q	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	419							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TAAAGATGCAGAGGATGCTTT	0.299000													13	77					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46501218	46501218	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:46501218C>T	ENST00000231751.4	-	2	430	c.135G>A	c.(133-135)atG>atA	p.M45I	LTF_ENST00000426532.2_Start_Codon_SNP_p.M1I|LTF_ENST00000417439.1_Missense_Mutation_p.M45I	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	45	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GCACTTTTCTCATATTCCTTT	0.562000													8	74					0	0	1	0	0
FAM124A	220108	broad.mit.edu	37	13	51825990	51825990	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr13:51825990C>T	ENST00000322475.8	+	3	622	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	FAM124A_ENST00000280057.6_Missense_Mutation_p.R199W	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	163										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		TTGGGCCATCCGGCCCGTGCA	0.632000													24	0					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156920125	156920125	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:156920125G>A	ENST00000257527.4	-	16	1842	c.1764C>T	c.(1762-1764)aaC>aaT	p.N588N	ADAM19_ENST00000394020.1_Silent_p.N590N|ADAM19_ENST00000430702.2_Silent_p.N321N|ADAM19_ENST00000517905.1_Silent_p.N588N	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	588	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGGCACCGCGTTGGACTCCA	0.597000													13	74					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38948809	38948809	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:38948809C>T	ENST00000355481.4	+	18	2175	c.2044C>T	c.(2044-2046)Cgg>Tgg	p.R682W	RYR1_ENST00000359596.3_Missense_Mutation_p.R682W|RYR1_ENST00000360985.3_Missense_Mutation_p.R682W	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	682	B30.2/SPRY 1.				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)	CACCCACTTGCGGGTGGGCTG	0.647000													84	87					0	0	1	0	0
FAM63A	55793	broad.mit.edu	37	1	150971904	150971904	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:150971904C>T	ENST00000361936.5	-	8	1876	c.922G>A	c.(922-924)Gag>Aag	p.E308K	FAM63A_ENST00000312210.5_Missense_Mutation_p.E166K|FAM63A_ENST00000361738.6_Missense_Mutation_p.E356K|FAM63A_ENST00000493834.2_Missense_Mutation_p.E213K|FAM63A_ENST00000470877.1_5'UTR	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	308							protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|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)			AGTTCACCCTCCTTAGCAGCT	0.552000													6	507					0	0	1	0	0
SPINT1	6692	broad.mit.edu	37	15	41149126	41149126	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:41149126G>T	ENST00000344051.4	+	11	1777	c.1543G>T	c.(1543-1545)Gag>Tag	p.E515*	SPINT1_ENST00000562057.1_Nonsense_Mutation_p.E499*|SPINT1_ENST00000431806.1_Nonsense_Mutation_p.E499*			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	515						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CTCCACTACCGAGGACACGGA	0.607000													20	313					6.33239e-15	6.85341e-15	1	1	0
DENND2C	163259	broad.mit.edu	37	1	115147542	115147542	+	Splice_Site	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:115147542C>T	ENST00000393274.1	-	11	2293		c.e11+1		DENND2C_ENST00000393276.3_Splice_Site|DENND2C_ENST00000481894.1_Splice_Site|DENND2C_ENST00000393277.1_Splice_Site	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C											NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		AGCCCATTTACCTCTTGAGTT	0.358000													12	28					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058234	56058234	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:56058234A>G	ENST00000313022.2	-	1	332	c.305T>C	c.(304-306)tTt>tCt	p.F102S		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GAAGACAAAAAAGAACATCTG	0.423000													32	229					0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9559550	9559550	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr18:9559550G>A	ENST00000400556.3	-	14	1968	c.1895C>T	c.(1894-1896)tCt>tTt	p.S632F	PPP4R1_ENST00000400555.3_Missense_Mutation_p.S615F	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	632					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						CTGTGCACGAGAAGGGTCAGT	0.473000													7	127					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73168940	73168940	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:73168940C>T	ENST00000545377.1	+	22	2859	c.2683C>T	c.(2683-2685)Ccc>Tcc	p.P895S	ARHGEF28_ENST00000296794.6_Missense_Mutation_p.P895S|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.P582S|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.P895S|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.P895S|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.P895S|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.P895S	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		TAAAATTTTCCCCTGTTTAGA	0.468000													21	4					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37364033	37364033	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:37364033G>T	ENST00000231498.3	-	3	552	c.349C>A	c.(349-351)Ctc>Atc	p.L117I	NUP155_ENST00000513532.1_Missense_Mutation_p.L117I|NUP155_ENST00000381843.2_Missense_Mutation_p.L58I	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	117					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCAATTGTGAGCCAAGCTCTG	0.398000													22	121					3.08376e-08	3.24507e-08	1	1	0
OR10R2	343406	broad.mit.edu	37	1	158450267	158450267	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:158450267C>A	ENST00000368152.1	+	1	600	c.600C>A	c.(598-600)gaC>gaA	p.D200E	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ACTTCTGTGACATCTCAGCAG	0.403000													91	100					1.44766e-59	1.62062e-59	1	1	0
KRT32	3882	broad.mit.edu	37	17	39623357	39623357	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:39623357G>T	ENST00000225899.3	-	1	324	c.221C>A	c.(220-222)gCc>gAc	p.A74D		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	74	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GATGCCACTGGCTGCCTGGCA	0.617000													25	147					1.04121e-07	1.09064e-07	1	1	0
MUC16	94025	broad.mit.edu	37	19	9017493	9017493	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:9017493C>A	ENST00000397910.4	-	26	38034	c.37831G>T	c.(37831-37833)Gga>Tga	p.G12611*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12613	SEA 4.				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						GCATCCACTCCAGTGGCTGCT	0.537000													9	49					3.27435e-08	3.44033e-08	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62298217	62298217	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:62298217C>G	ENST00000378024.4	-	5	3946	c.3672G>C	c.(3670-3672)atG>atC	p.M1224I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1224					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)				CTGGCACTTTCATTTCACCTT	0.498000													6	518					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36682784	36682784	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr22:36682784C>T	ENST00000216181.5	-	35	5271	c.5041G>A	c.(5041-5043)Gag>Aag	p.E1681K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1681					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						TGGATCATCTCGGCCTCCATG	0.637000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026519	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	194					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530753	80530753	+	Silent	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:80530753C>A	ENST00000295057.3	-	2	848	c.192G>T	c.(190-192)ctG>ctT	p.L64L	CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L64L|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	64	LRRNT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCAGGCCGGACAGGTTGTGGG	0.697000										HNSCC(69;0.2)			50	17					1.23713e-20	1.36483e-20	1	1	0
NUP214	8021	broad.mit.edu	37	9	134034770	134034770	+	Splice_Site	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:134034770G>T	ENST00000359428.5	+	18	2581	c.2437G>T	c.(2437-2439)Gaa>Taa	p.E813*	RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000411637.2_Splice_Site_p.E803*|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000417798.2_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000589128.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000451030.1_Splice_Site_p.E814*			P35658	NU214_HUMAN	nucleoporin 214kDa	813	11 X 5 AA approximate repeats.	Breakpoint.			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)		TTTCTTATAGGAAATTCGGCG	0.328000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								18	14					1.56452e-12	1.67996e-12	1	1	0
RANBP17	64901	broad.mit.edu	37	5	170669745	170669745	+	Silent	SNP	T	T	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:170669745T>C	ENST00000523189.1	+	24	2861	c.2697T>C	c.(2695-2697)caT>caC	p.H899H	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	899					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTCAGGACCATATGAGCTTCA	0.428000			T	TRD@	ALL								16	137					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141164461	141164461	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:141164461G>C	ENST00000514251.1	+	4	3510	c.3231G>C	c.(3229-3231)ttG>ttC	p.L1077F	ZBTB38_ENST00000441582.2_Missense_Mutation_p.L1077F|ZBTB38_ENST00000321464.5_Missense_Mutation_p.L1078F			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	1077					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CATTCACCTTGAATGAGACCC	0.443000													13	125					0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79954649	79954649	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:79954649C>T	ENST00000306729.7	+	7	957	c.860C>T	c.(859-861)tCg>tTg	p.S287L	ASPSCR1_ENST00000580534.1_Missense_Mutation_p.S210L|ASPSCR1_ENST00000306739.4_Missense_Mutation_p.S287L	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	287							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AAGTCCAAGTCGGGCCAGGAT	0.652000			T	TFE3	alveolar soft part sarcoma								21	118					0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104427572	104427572	+	Silent	SNP	T	T	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr8:104427572T>C	ENST00000297579.5	+	1	631	c.354T>C	c.(352-354)acT>acC	p.T118T		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTCACGTGACTGGAAGTAGTC	0.637000													62	96					0	0	1	0	0
H3F3A	3020	broad.mit.edu	37	1	226253377	226253377	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:226253377G>A	ENST00000366814.3	+	3	270	c.149G>A	c.(148-150)cGt>cAt	p.R50H	H3F3A_ENST00000366813.1_Missense_Mutation_p.R50H|H3F3A_ENST00000366815.3_Missense_Mutation_p.R50H|H3F3A_ENST00000366816.1_Missense_Mutation_p.R50H					H3 histone, family 3A											central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		GTGGCGCTCCGTGAAATTAGA	0.408000			Mis		glioma								7	56					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122205854	122205854	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:122205854C>G	ENST00000263710.4	-	18	2128	c.1739G>C	c.(1738-1740)aGa>aCa	p.R580T	CLASP1_ENST00000545861.1_Missense_Mutation_p.R348T|CLASP1_ENST00000397587.3_Missense_Mutation_p.R580T|CLASP1_ENST00000541377.1_Missense_Mutation_p.R580T|CLASP1_ENST00000541859.1_Missense_Mutation_p.R349T|CLASP1_ENST00000409078.3_Missense_Mutation_p.R580T|CLASP1_ENST00000455322.2_Missense_Mutation_p.R580T	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	580	Ser-rich.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					AGTCTCACCTCTAGATGTGGT	0.502000													10	104					0	0	1	0	0
TYSND1	219743	broad.mit.edu	37	10	71905920	71905920	+	Silent	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr10:71905920C>A	ENST00000287078.6	-	1	422	c.423G>T	c.(421-423)ccG>ccT	p.P141P	TYSND1_ENST00000335494.5_Silent_p.P141P	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	141					proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CCCAGAAGGCCGGGCAGCTCA	0.736000													3	2					1	1	1	1	0
ASXL2	55252	broad.mit.edu	37	2	26022373	26022373	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:26022373G>A	ENST00000435504.4	-	5	577	c.284C>T	c.(283-285)tCa>tTa	p.S95L	ASXL2_ENST00000336112.4_Missense_Mutation_p.S67L|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	95	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAACCTTCTGACAGCTCTTT	0.428000													4	137					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058206	56058206	+	Missense_Mutation	SNP	A	A	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:56058206A>C	ENST00000313022.2	-	1	360	c.333T>G	c.(331-333)tgT>tgG	p.C111W		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AGAGAAGAAAACATTCAGCAG	0.438000													29	161					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19488175	19488175	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:19488175C>A	ENST00000375267.2	-	37	5086	c.5083G>T	c.(5083-5085)Gct>Tct	p.A1695S	UBR4_ENST00000375217.2_Missense_Mutation_p.A1695S|UBR4_ENST00000375254.3_Missense_Mutation_p.A1695S|UBR4_ENST00000375226.2_Missense_Mutation_p.A1695S			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1695					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)		CACACCTTAGCACACACTGTG	0.483000													27	59					4.59853e-10	4.88415e-10	1	1	0
CCND3	896	broad.mit.edu	37	6	41909349	41909349	+	Silent	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:41909349G>T	ENST00000372991.4	-	1	237	c.39C>A	c.(37-39)ccC>ccA	p.P13P	CCND3_ENST00000414200.2_Silent_p.P13P|CCND3_ENST00000510503.1_Intron|CCND3_ENST00000415497.2_Intron|CCND3_ENST00000511642.1_Intron|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000372988.4_Intron	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	13					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			gcccggcccggggcgcgTGCC	0.731000			T	IGH@	MM								9	1					2.62144e-13	2.81928e-13	1	1	0
KLHL1	57626	broad.mit.edu	37	13	70281831	70281831	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr13:70281831C>T	ENST00000377844.4	-	10	2872	c.2113G>A	c.(2113-2115)Gtt>Att	p.V705I	KLHL1_ENST00000545028.1_Missense_Mutation_p.V512I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	705					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.V705I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TAGCCACCAACAGCATATAAT	0.448000													72	12					0	0	1	0	0
HIST2H2BA	337875	broad.mit.edu	37	1	120906266	120906266	+	RNA	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:120906266C>T	ENST00000430394.1	+	0	239					NR_027337.1																						GAGCGCATCGCGGGAGAGGCG	0.647000													45	100					0	0	1	0	0
SPSB2	84727	broad.mit.edu	37	12	6981305	6981305	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:6981305G>A	ENST00000519357.1	-	2	947	c.761C>T	c.(760-762)tCa>tTa	p.S254L	SPSB2_ENST00000523102.1_Intron|SPSB2_ENST00000524270.1_Intron			Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	10	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						CAGGCTGGATGAAGGTCCATC	0.522000											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	81					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140401940	140401940	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:140401940C>T	ENST00000286349.3	+	2	1169	c.978C>T	c.(976-978)ctC>ctT	p.L326L		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	326						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCATTAGCCTCATCGACGCCT	0.542000													31	118					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72090947	72090947	+	Silent	SNP	A	A	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr14:72090947A>G	ENST00000555818.1	+	4	2160	c.1812A>G	c.(1810-1812)gaA>gaG	p.E604E	SIPA1L1_ENST00000537413.1_Silent_p.E79E|SIPA1L1_ENST00000381232.3_Silent_p.E604E|SIPA1L1_ENST00000358550.2_Silent_p.E604E	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	604					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)		AACTGGATGAACAAGGGGTGA	0.483000													63	15					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24896462	24896462	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr10:24896462C>T	ENST00000396432.2	-	11	3136	c.2650G>A	c.(2650-2652)Gag>Aag	p.E884K	ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.E671K	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	883					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TCCAGACCCTCATCATATGAT	0.378000													9	88					0	0	1	0	0
KBTBD2	25948	broad.mit.edu	37	7	32909797	32909797	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:32909797G>A	ENST00000304056.4	-	4	1731	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	344										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TCACAGTTCTGAAGGCAGTCT	0.388000													38	117					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27472739	27472739	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:27472739C>T	ENST00000356183.4	-	37	6277	c.6262G>A	c.(6262-6264)Gac>Aac	p.D2088N	GTF3C1_ENST00000561623.1_Missense_Mutation_p.D2063N	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	2088						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						AGGGTACAGTCCAAGGTGGGC	0.632000													33	93					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480590	140480590	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:140480590C>G	ENST00000231130.2	+	1	357	c.357C>G	c.(355-357)aaC>aaG	p.N119K	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		119	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGTTACAAACGAGCTCCGTA	0.413000													78	44					0	0	1	0	0
NUCB2	4925	broad.mit.edu	37	11	17317693	17317693	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:17317693G>A	ENST00000529010.1	+	4	406	c.187G>A	c.(187-189)Gat>Aat	p.D63N	NUCB2_ENST00000458064.2_Missense_Mutation_p.D63N|NUCB2_ENST00000323688.6_Missense_Mutation_p.D63N	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	63						cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GCAAGTGATTGATGTGCTGGA	0.318000													10	52					0	0	1	0	0
SLC17A7	57030	broad.mit.edu	37	19	49937246	49937246	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:49937246G>C	ENST00000221485.3	-	6	866	c.695C>G	c.(694-696)tCa>tGa	p.S232*	SLC17A7_ENST00000543531.1_Nonsense_Mutation_p.S220*|SLC17A7_ENST00000600601.1_Nonsense_Mutation_p.S165*	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	232					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GCTCCATCCTGAGTACTGCAC	0.662000													35	38					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494386	55494386	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:55494386C>T	ENST00000543010.1	+	6	1463	c.1320C>T	c.(1318-1320)ggC>ggT	p.G440G	NLRP2_ENST00000427260.2_Silent_p.G417G|NLRP2_ENST00000339757.7_Silent_p.G418G|NLRP2_ENST00000538819.1_Silent_p.G416G|NLRP2_ENST00000263437.6_Silent_p.G437G|NLRP2_ENST00000391721.4_Silent_p.G416G|NLRP2_ENST00000448584.2_Silent_p.G440G|NLRP2_ENST00000537859.1_Silent_p.G418G	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	440	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)		TCCCGCAGGGCGCACAGCTGC	0.701000													18	22					0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11014129	11014129	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:11014129G>A	ENST00000377004.4	-	10	1045	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V	C1orf127_ENST00000377008.4_Missense_Mutation_p.A182V	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	200										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)		AGCCATCTCGGCAAATTCCAG	0.557000													4	182					0	0	1	0	0
FBXO4	26272	broad.mit.edu	37	5	41927313	41927313	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:41927313G>C	ENST00000296812.2	+	2	444	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	FBXO4_ENST00000281623.3_Missense_Mutation_p.E130Q|FBXO4_ENST00000509134.1_Missense_Mutation_p.E130Q	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	130					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				GCCTATATCTGAGGTCACTGA	0.338000													28	258					0	0	1	0	0
FUT4	2526	broad.mit.edu	37	11	94278191	94278191	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:94278191G>C	ENST00000358752.2	+	1	1175	c.892G>C	c.(892-894)Gag>Cag	p.E298Q		NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	298					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GATGAACTTCGAGTCGCCCTC	0.667000													6	24					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62295024	62295024	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:62295024C>G	ENST00000378024.4	-	5	7139	c.6865G>C	c.(6865-6867)Gaa>Caa	p.E2289Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2289					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)				TCTGGACCTTCAAGGCTCACA	0.498000													5	281					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13224174	13224174	+	Splice_Site	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:13224174G>C	ENST00000197268.8	+	10	1488		c.e10-1			NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467							integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CTCTTTTGTAGATGATGGTTG	0.463000													10	103					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183695351	183695351	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:183695351G>C	ENST00000334444.6	-	10	1598	c.1358C>G	c.(1357-1359)tCa>tGa	p.S453*	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Nonsense_Mutation_p.S453*	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	453	ABC transmembrane type-1 1.					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)			GGACTTTACTGAAAACGGTGT	0.473000													24	87					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60088128	60088128	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:60088128G>A	ENST00000397786.2	-	9	1826	c.1750C>T	c.(1750-1752)Cag>Tag	p.Q584*		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	584					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGGAAAGACTGGGACAAACTG	0.413000													67	20					0	0	1	0	0
C18orf8	29919	broad.mit.edu	37	18	21086950	21086950	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr18:21086950G>C	ENST00000269221.3	+	3	306	c.196G>C	c.(196-198)Gaa>Caa	p.E66Q	C18orf8_ENST00000590868.1_Missense_Mutation_p.E66Q	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	66										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGACAAAGGAGAAGTGAAGTG	0.323000													24	179					0	0	1	0	0
XPO1	7514	broad.mit.edu	37	2	61719598	61719598	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:61719598C>T	ENST00000401558.2	-	15	2312	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	XPO1_ENST00000406957.1_Missense_Mutation_p.E529K|XPO1_ENST00000404992.2_Missense_Mutation_p.E529K	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	529	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CTTTTCTGTTCACATAATCCT	0.294000			Mis		CLL								5	30					0	0	1	0	0
CYB5R3	1727	broad.mit.edu	37	22	43026923	43026923	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr22:43026923C>T	ENST00000361740.4	-	4	396	c.397G>A	c.(397-399)Gat>Aat	p.D133N	CYB5R3_ENST00000352397.5_Missense_Mutation_p.D100N|CYB5R3_ENST00000402438.1_Missense_Mutation_p.D77N|CYB5R3_ENST00000407332.1_Missense_Mutation_p.D77N|CYB5R3_ENST00000396303.3_Missense_Mutation_p.D77N|CYB5R3_ENST00000407623.3_Missense_Mutation_p.D77N	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	100	FAD-binding FR-type.				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	TTGTCATCATCGCTGGAGATG	0.597000													8	24					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183493769	183493769	+	Missense_Mutation	SNP	G	G	T	rs79893976		TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:183493769G>T	ENST00000305135.5	+	18	2630	c.2435G>T	c.(2434-2436)gGa>gTa	p.G812V		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	812	Gly-rich.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	p.G812A(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ggaggaggaggaggcggcagt	0.577000													9	52					5.4927e-09	5.80681e-09	1	1	0
KIAA1210	57481	broad.mit.edu	37	X	118223109	118223109	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chrX:118223109A>G	ENST00000402510.2	-	11	2083	c.2084T>C	c.(2083-2085)aTg>aCg	p.M695T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	695										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGAAGGATTCATAAACACCTG	0.448000													19	17					0	0	1	0	0
TOM1L2	146691	broad.mit.edu	37	17	17787974	17787974	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:17787974G>C	ENST00000581396.1	-	4	421	c.325C>G	c.(325-327)Ctg>Gtg	p.L109V	TOM1L2_ENST00000318094.10_Intron|TOM1L2_ENST00000395739.4_Intron|TOM1L2_ENST00000540946.1_Intron|TOM1L2_ENST00000379504.3_Missense_Mutation_p.L159V|TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000535933.1_Missense_Mutation_p.L159V	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	159	VHS.				intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					ATGGGAGACAGAGCGTCCAAG	0.537000													22	49					0	0	1	0	0
DUSP7	1849	broad.mit.edu	37	3	52088053	52088053	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:52088053G>A	ENST00000495880.1	-	2	1038	c.855C>T	c.(853-855)ttC>ttT	p.F285F	DUSP7_ENST00000296483.6_Silent_p.F234F			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	285					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)		CGCCGTGCTCGAAGGCGTTGG	0.562000													54	182					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40662949	40662949	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr22:40662949G>C	ENST00000454349.2	+	5	2926	c.2715G>C	c.(2713-2715)aaG>aaC	p.K905N	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.K905N|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	905					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						ATAACTACAAGAATGTGAATC	0.498000													10	13					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114239697	114239697	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr4:114239697G>C	ENST00000357077.4	+	26	2874	c.2821G>C	c.(2821-2823)Gaa>Caa	p.E941Q	ANK2_ENST00000264366.6_Missense_Mutation_p.E941Q|ANK2_ENST00000394537.3_Missense_Mutation_p.E941Q|ANK2_ENST00000506722.1_Missense_Mutation_p.E920Q|ANK2_ENST00000509550.1_Missense_Mutation_p.E150Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	941					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAAGGAGGCAGAAAGGAATTC	0.358000													7	27					0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47833972	47833972	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:47833972C>T	ENST00000378460.2	-	16	2008	c.1962G>A	c.(1960-1962)gtG>gtA	p.V654V	NUP160_ENST00000528071.1_Silent_p.V540V|NUP160_ENST00000530326.1_Silent_p.V540V|NUP160_ENST00000528501.1_Silent_p.V218V	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	654					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TATCCTCCATCACATTTTCTC	0.343000													4	58					0	0	1	0	0
ARC	23237	broad.mit.edu	37	8	143695045	143695045	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr8:143695045C>T	ENST00000356613.2	-	1	1788	c.588G>A	c.(586-588)ccG>ccA	p.P196P		NM_015193.4	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	196	Required for binding DNM2 (By similarity).				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CGGGGACCCACGGCTGGTACT	0.711000													10	22					0	0	1	0	0
ZNF486	90649	broad.mit.edu	37	19	20308650	20308650	+	Silent	SNP	A	A	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:20308650A>T	ENST00000335117.8	+	4	1188	c.1131A>T	c.(1129-1131)ccA>ccT	p.P377P	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						GAGAGAAACCATACAAATGTG	0.423000													4	60					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10742774	10742774	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:10742774C>A	ENST00000586078.1	+	10	874	c.765C>A	c.(763-765)ttC>ttA	p.F255L	SLC44A2_ENST00000407327.4_Missense_Mutation_p.F253L|SLC44A2_ENST00000335757.5_Missense_Mutation_p.F255L	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	255					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TGCTTCGCTTCCTGGCTGGTA	0.557000													14	237					4.7546e-09	5.03429e-09	1	1	0
DEF8	54849	broad.mit.edu	37	16	90028179	90028179	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:90028179C>T	ENST00000563594.1	+	8	1711	c.714C>T	c.(712-714)taC>taT	p.Y238Y	DEF8_ENST00000563795.1_Silent_p.Y238Y|DEF8_ENST00000268676.7_Silent_p.Y299Y|DEF8_ENST00000569453.1_Silent_p.Y238Y|DEF8_ENST00000570182.1_Silent_p.Y228Y|DEF8_ENST00000567874.1_Silent_p.Y178Y|DEF8_ENST00000563848.1_3'UTR	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	299					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		AGTGCGACTACACCGGCCAGT	0.617000													8	84					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27426857	27426857	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:27426857C>T	ENST00000263980.3	-	12	2964	c.2389G>A	c.(2389-2391)Gac>Aac	p.D797N	SLC9A1_ENST00000545949.1_Missense_Mutation_p.D458N	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	797					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GGGCCTGGGTCACTGAGGCAG	0.652000													4	83					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6530629	6530629	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:6530629C>T	ENST00000377748.1	-	16	2345	c.1848G>A	c.(1846-1848)gcG>gcA	p.A616A	PLEKHG5_ENST00000400915.3_Silent_p.A595A|PLEKHG5_ENST00000377737.2_Silent_p.A539A|PLEKHG5_ENST00000340850.5_Silent_p.A539A|PLEKHG5_ENST00000544978.1_Silent_p.A539A|PLEKHG5_ENST00000400913.1_Silent_p.A539A|PLEKHG5_ENST00000377740.3_Silent_p.A616A|PLEKHG5_ENST00000535355.1_Silent_p.A608A|PLEKHG5_ENST00000377728.3_Silent_p.A539A|PLEKHG5_ENST00000537245.1_Silent_p.A618A|PLEKHG5_ENST00000377725.1_Silent_p.A539A|PLEKHG5_ENST00000377732.1_Silent_p.A576A	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	595					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TCACCACGGCCGCCAGCCGCT	0.682000													13	18					0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50306555	50306555	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:50306555C>G	ENST00000354293.5	+	18	2432	c.2266C>G	c.(2266-2268)Ctc>Gtc	p.L756V	AP2A1_ENST00000359032.5_Missense_Mutation_p.L778V	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	778					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|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|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	p.L778F(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCGCATGTATCTCTTCTATGG	0.602000													19	92					0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151243416	151243416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:151243416C>T	ENST00000367321.3	+	10	1334	c.1060C>T	c.(1060-1062)Cag>Tag	p.Q354*		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	354	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CTTGAAACTTCAGCCTCTCTC	0.512000													20	71					0	0	1	0	0
TUBB1	81027	broad.mit.edu	37	20	57597933	57597933	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr20:57597933G>A	ENST00000217133.1	+	2	360	c.91G>A	c.(91-93)Gac>Aac	p.D31N		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	31					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	ACACGGGATCGACTTGGCTGG	0.572000													61	49					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56486842	56486842	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:56486842G>C	ENST00000267101.3	+	11	1696	c.1256G>C	c.(1255-1257)gGa>gCa	p.G419A	ERBB3_ENST00000415288.2_Missense_Mutation_p.G360A|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	419					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACAACCATTGGAGGCAGAAGC	0.478000													35	3					0	0	1	0	0
PRAMEF7	441871	broad.mit.edu	37	1	12979810	12979810	+	Silent	SNP	C	C	T	rs144939857		TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:12979810C>T	ENST00000361079.2	+	4	1085	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F						PRAME family member 7											endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGACCCATTTCAGCCCTGAGC	0.577000													11	196					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561902	11561902	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:11561902G>A	ENST00000294484.6	+	2	991	c.853G>A	c.(853-855)Gcg>Acg	p.A285T	PTCHD2_ENST00000389575.3_Missense_Mutation_p.A285T	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	285					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)		GCGCGGCGACGCGGAGCGCAA	0.637000													3	28					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76753098	76753098	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr18:76753098C>T	ENST00000536229.3	+	1	1417	c.708C>T	c.(706-708)agC>agT	p.S236S	SALL3_ENST00000575389.2_Silent_p.S369S|SALL3_ENST00000537592.2_Silent_p.S369S			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CTTCCGCCAGCGGCGTCATCT	0.716000													5	15					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133367876	133367876	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:133367876C>T	ENST00000204726.3	-	12	3031	c.2473G>A	c.(2473-2475)Gaa>Aaa	p.E825K	GOLGA3_ENST00000450791.2_Missense_Mutation_p.E825K|GOLGA3_ENST00000456883.2_Missense_Mutation_p.E825K|GOLGA3_ENST00000537452.1_Missense_Mutation_p.E825K|GOLGA3_ENST00000545875.1_Missense_Mutation_p.E825K	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	825					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGCAGGTGTTCCACCTGTGGG	0.458000													127	131					0	0	1	0	0
GSK3B	2932	broad.mit.edu	37	3	119585468	119585468	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:119585468G>A	ENST00000316626.5	-	9	1148	c.917C>T	c.(916-918)tCa>tTa	p.S306L	GSK3B_ENST00000473886.1_Intron|GSK3B_ENST00000264235.8_Intron			P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	303	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TCCTGTTCCTGACGAATCCTA	0.373000													24	227					0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45047491	45047491	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:45047491T>C	ENST00000559390.1	+	3	1328	c.400T>C	c.(400-402)Tgc>Cgc	p.C134R	TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000329464.4_Missense_Mutation_p.C134R|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000338264.4_Intron			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	134	Necessary for nuclear localization (By similarity).				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)		GAAACTGATCTGCTTTCAATG	0.498000													28	67					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79249842	79249842	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:79249842G>A	ENST00000374759.3	-	8	1222	c.839C>T	c.(838-840)tCa>tTa	p.S280L	SLC38A10_ENST00000288439.5_Missense_Mutation_p.S280L|SLC38A10_ENST00000546352.1_5'UTR	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	280					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CACAGCCACTGACATCATGAA	0.617000													14	135					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8617577	8617577	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:8617577C>G	ENST00000337907.3	-	6	1162	c.528G>C	c.(526-528)aaG>aaC	p.K176N	RERE_ENST00000400907.2_Missense_Mutation_p.K176N|RERE_ENST00000400908.2_Missense_Mutation_p.K176N	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	176	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GATGGTCCCTCTTACTCTGAA	0.438000													22	69					0	0	1	0	0
FANCC	2176	broad.mit.edu	37	9	97873861	97873861	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:97873861C>G	ENST00000289081.3	-	13	1467	c.1213G>C	c.(1213-1215)Gag>Cag	p.E405Q	FANCC_ENST00000375305.1_Missense_Mutation_p.E405Q	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	405					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GCCACCATCTCAGCCCATCCT	0.577000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	130					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120192484	120192484	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr4:120192484C>G	ENST00000450251.1	+	12	2013	c.1469C>G	c.(1468-1470)tCt>tGt	p.S490C	USP53_ENST00000274030.6_Missense_Mutation_p.S490C			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	490					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			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						CATTTCCAATCTGGATCACCT	0.368000													19	41					0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39726192	39726192	+	Silent	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:39726192C>A	ENST00000246662.4	-	3	866	c.801G>T	c.(799-801)ctG>ctT	p.L267L	KRT9_ENST00000588431.1_Silent_p.L34L	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	267	Coil 1B.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TCTCCATGGTCAGATTGTCCA	0.527000													24	182					4.26978e-12	4.57763e-12	1	1	0
NAA35	60560	broad.mit.edu	37	9	88628646	88628646	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:88628646G>A	ENST00000361671.5	+	17	1535	c.1402G>A	c.(1402-1404)Gat>Aat	p.D468N		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	468					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						AGAGAAGGTTGATGCAGCGCT	0.378000													19	130					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170856088	170856088	+	Silent	SNP	T	T	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:170856088T>C	ENST00000436636.2	-	15	1844	c.1500A>G	c.(1498-1500)ttA>ttG	p.L500L	TNIK_ENST00000470834.1_Silent_p.L471L|TNIK_ENST00000284483.8_Silent_p.L500L|TNIK_ENST00000357327.5_Silent_p.L471L|TNIK_ENST00000538048.1_Silent_p.L500L|TNIK_ENST00000341852.6_Silent_p.L471L|TNIK_ENST00000460047.1_Silent_p.L500L|TNIK_ENST00000488470.1_Silent_p.L500L|TNIK_ENST00000369326.5_Silent_p.L471L|TNIK_ENST00000475336.1_Silent_p.L471L	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	500	Mediates interaction with NEDD4.				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)			GAAGGGAAACTAAGTAGTCTC	0.478000													16	23					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806086	54806086	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:54806086C>T	ENST00000306858.7	+	5	2433	c.2317C>T	c.(2317-2319)Cag>Tag	p.Q773*		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	773										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAAGGGGTCTCAGAAGTTAAG	0.368000													12	67					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106461078	106461078	+	Silent	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:106461078C>G	ENST00000261402.2	-	7	2867	c.1488G>C	c.(1486-1488)gtG>gtC	p.V496V		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	496							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						TGCTGCCCATCACATCATTAC	0.572000													36	80					0	0	1	0	0
CSK	1445	broad.mit.edu	37	15	75091619	75091619	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:75091619C>G	ENST00000220003.9	+	5	978	c.249C>G	c.(247-249)ttC>ttG	p.F83L	CSK_ENST00000439220.2_Missense_Mutation_p.F83L|CSK_ENST00000567571.1_Missense_Mutation_p.F83L|CSK_ENST00000309470.9_Missense_Mutation_p.F83L	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	83	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						CCAGTTGGTTCCACGGCAAGA	0.637000													7	91					0	0	1	0	0
ARG1	383	broad.mit.edu	37	6	131894467	131894467	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:131894467C>G	ENST00000368087.3	+	1	184	c.45C>G	c.(43-45)ttC>ttG	p.F15L	ARG1_ENST00000356962.2_Missense_Mutation_p.F15L|ARG1_ENST00000498260.1_3'UTR			P05089	ARGI1_HUMAN	arginase 1	15					arginine catabolic process|urea cycle	cytosol	arginase activity	p.F15L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	GAGCTCCTTTCTCAAAGGGAC	0.408000													26	43					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76803462	76803462	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:76803462C>A	ENST00000542802.3	-	14	2107	c.1664G>T	c.(1663-1665)gGg>gTg	p.G555V	USP36_ENST00000312010.6_Missense_Mutation_p.G555V|USP36_ENST00000449938.2_Missense_Mutation_p.G255V			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GTTGCTGGTCCCAGGCAGCCC	0.577000													40	18					5.04308e-16	5.47534e-16	1	1	0
ZNF329	79673	broad.mit.edu	37	19	58640513	58640513	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:58640513C>T	ENST00000598312.1	-	4	591	c.358G>A	c.(358-360)Ggt>Agt	p.G120S	ZNF329_ENST00000358067.4_Missense_Mutation_p.G120S	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TCACTGTCACCAGTTCTCTTA	0.448000													18	146					0	0	1	0	0
IQCF2	389123	broad.mit.edu	37	3	51897098	51897098	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:51897098G>T	ENST00000333127.3	+	3	236	c.207G>T	c.(205-207)agG>agT	p.R69S	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	69	IQ 1.									endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAGCCCTCAGGGCCTGGATAA	0.577000													13	130					4.3838e-07	4.57091e-07	1	1	0
CREBBP	1387	broad.mit.edu	37	16	3799627	3799627	+	Splice_Site	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:3799627C>T	ENST00000262367.5	-	21	4646		c.e21+1		CREBBP_ENST00000382070.3_Splice_Site	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein						cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.?(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TATATACTTACGGTTCGGGGT	0.294000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						6	12					0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116620560	116620560	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr10:116620560T>C	ENST00000369248.4	+	15	2335	c.2000T>C	c.(1999-2001)tTc>tCc	p.F667S	FAM160B1_ENST00000369250.3_Missense_Mutation_p.F667S	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	667										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						CTTTCTCTCTTCCCTCATCCA	0.398000													36	111					0	0	1	0	0
DIEXF	27042	broad.mit.edu	37	1	210012460	210012460	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:210012460C>A	ENST00000491415.2	+	7	1326	c.1269C>A	c.(1267-1269)gaC>gaA	p.D423E		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	423					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						ATATTGATGACCACTTCAGGA	0.438000													7	65					0.307466	0.309275	1	1	0
CTBP2	1488	broad.mit.edu	37	10	126691538	126691538	+	Missense_Mutation	SNP	C	C	T	rs76079088		TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr10:126691538C>T	ENST00000309035.6	-	3	2099	c.1969G>A	c.(1969-1971)Ggc>Agc	p.G657S	CTBP2_ENST00000334808.6_Missense_Mutation_p.G185S|CTBP2_ENST00000411419.2_Missense_Mutation_p.G117S|CTBP2_ENST00000337195.5_Missense_Mutation_p.G117S|CTBP2_ENST00000531469.1_Missense_Mutation_p.G117S|CTBP2_ENST00000494626.2_Missense_Mutation_p.G117S	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	117					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCGAGCTCGCCGGCAGCCTTG	0.632000													17	24					0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70281161	70281161	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:70281161G>A	ENST00000346329.3	+	17	1743	c.1435G>A	c.(1435-1437)Gat>Aat	p.D479N	CTTN_ENST00000376561.3_Missense_Mutation_p.D479N|CTTN_ENST00000538675.1_Missense_Mutation_p.D200N|CTTN_ENST00000301843.8_Missense_Mutation_p.D516N	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	516						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		ATTTGACCCTGATGACATCAT	0.547000													8	119					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94620410	94620410	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:94620410C>T	ENST00000258526.4	+	8	2069	c.1820C>T	c.(1819-1821)gCg>gTg	p.A607V		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	607					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						ACTGGCTGCGCGTGGTGTAAA	0.443000													11	88					0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7951862	7951862	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:7951862C>G	ENST00000380183.4	+	14	2149	c.2010C>G	c.(2008-2010)atC>atG	p.I670M	ALOX15B_ENST00000380173.2_Missense_Mutation_p.I641M|ALOX15B_ENST00000572022.1_Missense_Mutation_p.I658M|ALOX15B_ENST00000573359.1_Missense_Mutation_p.I596M	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	670	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						CTCCCCTCATCGAGAACAGCG	0.592000													4	48					0	0	1	0	0
FANCC	2176	broad.mit.edu	37	9	97876927	97876927	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:97876927C>T	ENST00000289081.3	-	12	1392	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	FANCC_ENST00000464653.1_5'UTR|FANCC_ENST00000375305.1_Missense_Mutation_p.E380K	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	380					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GTCTGGTCTTCAACTGCTTCT	0.517000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	131					0	0	1	0	0
PAQR4	124222	broad.mit.edu	37	16	3019782	3019782	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:3019782C>G	ENST00000318782.8	+	1	537	c.107C>G	c.(106-108)tCg>tGg	p.S36W	PKMYT1_ENST00000571102.1_Intron|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000576565.1_Intron|PAQR4_ENST00000293978.8_Missense_Mutation_p.S36W|PAQR4_ENST00000572687.1_Missense_Mutation_p.S36W	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	36						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						AGCAGCGGCTCGGGCTGCCTG	0.697000													8	13					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183603109	183603109	+	Silent	SNP	T	T	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr4:183603109T>A	ENST00000511685.1	+	11	2100	c.1977T>A	c.(1975-1977)ctT>ctA	p.L659L	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.L659L					teneurin transmembrane protein 3																		GAACGTATCTTCAAGAAAGTG	0.507000													15	49					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13776571	13776571	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:13776571C>A	ENST00000265104.4	-	55	9454	c.9350G>T	c.(9349-9351)tGg>tTg	p.W3117L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3117	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)					ATCTTTGGGCCATCGGCTGAA	0.458000									Kartagener syndrome				68	232					2.19297e-23	2.42717e-23	1	1	0
FNBP1	23048	broad.mit.edu	37	9	132687349	132687349	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:132687349G>A	ENST00000420781.1	-	9	1095	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	FNBP1_ENST00000355681.3_Missense_Mutation_p.R293C|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000446176.2_Missense_Mutation_p.R293C			Q96RU3	FNBP1_HUMAN	formin binding protein 1	293	Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	p.R293C(1)					Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GACACAGTGCGCTTCATTGGC	0.423000			T	MLL	AML								7	87					0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91449191	91449191	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:91449191C>G	ENST00000266719.3	-	2	1115	c.868G>C	c.(868-870)Gat>Cat	p.D290H		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	290					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TTGTTATGATCAAGGTGAAGG	0.363000													78	14					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887240	12887240	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:12887240C>A	ENST00000535591.1	-	3	812	c.617G>T	c.(616-618)cGc>cTc	p.R206L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	206										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGAAACGTAGCGAGAGACATC	0.488000													144	290					4.74456e-70	5.32013e-70	1	1	0
PHF1	5252	broad.mit.edu	37	6	33381073	33381073	+	Splice_Site	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:33381073G>A	ENST00000374516.3	+	5	709	c.438G>A	c.(436-438)aaG>aaA	p.K146K	PHF1_ENST00000374512.3_Splice_Site_p.K146K	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	146					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)				TCGCCACCAAGGTAAAGGCAC	0.607000													5	78					0	0	1	0	0
TMEM243	79161	broad.mit.edu	37	7	86827331	86827331	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:86827331G>C	ENST00000433078.1	-	4	601	c.160C>G	c.(160-162)Caa>Gaa	p.Q54E	TMEM243_ENST00000481425.1_5'UTR|TMEM243_ENST00000257637.3_Missense_Mutation_p.Q54E|TMEM243_ENST00000423734.1_Missense_Mutation_p.Q54E					transmembrane protein 243, mitochondrial																		GGAGGTAGTTGAGGGAAAACA	0.368000													40	133					0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31255373	31255373	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:31255373G>C	ENST00000407793.2	+	23	2535	c.2284G>C	c.(2284-2286)Gag>Cag	p.E762Q	DDX11_ENST00000350437.4_Missense_Mutation_p.E712Q|DDX11_ENST00000228264.6_Missense_Mutation_p.E736Q|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.E762Q|DDX11_ENST00000545668.1_Missense_Mutation_p.E762Q	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	762					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CTGTGGCCAGGAGAGAGGCCA	0.562000										Multiple Myeloma(12;0.14)			10	140					0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7818238	7818238	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:7818238C>G	ENST00000329434.2	-	1	282	c.252G>C	c.(250-252)gaG>gaC	p.E84D	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	84					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)		CTGTATTTCTCTCCACCAGGA	0.483000													99	71					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50214030	50214030	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:50214030C>A	ENST00000392518.4	+	16	2154	c.1782C>A	c.(1780-1782)ttC>ttA	p.F594L	CPT1C_ENST00000598293.1_Missense_Mutation_p.F594L|CPT1C_ENST00000405931.2_Missense_Mutation_p.F583L|CPT1C_ENST00000323446.5_Missense_Mutation_p.F594L|CPT1C_ENST00000354199.5_Missense_Mutation_p.F594L	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	594					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTCGCTTATTCCTGGAAGGCC	0.602000													11	87					0.000673444	0.000690608	1	1	0
UFSP2	55325	broad.mit.edu	37	4	186329556	186329556	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr4:186329556G>C	ENST00000264689.6	-	8	981	c.865C>G	c.(865-867)Cat>Gat	p.H289D		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	289						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		TGCATATAATGATGATAGCCA	0.388000													5	85					0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37863158	37863158	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr4:37863158G>A	ENST00000381967.4	+	14	1864	c.1764G>A	c.(1762-1764)ctG>ctA	p.L588L	PGM2_ENST00000537241.1_Silent_p.L428L	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	588					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						AGAAGGAACTGAATGAACTGG	0.428000													38	139					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065262	23065262	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr20:23065262G>C	ENST00000246006.4	-	1	1715	c.1568C>G	c.(1567-1569)tCt>tGt	p.S523C		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	523					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)					GGGGGCGTCAGATGACAGCGA	0.657000													25	231					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39881462	39881462	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:39881462G>A	ENST00000260356.5	+	12	1998	c.1833G>A	c.(1831-1833)acG>acA	p.T611T		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	611	EGF-like 2; calcium-binding (Potential).				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GTGAGAACACGGACCCCGGCT	0.567000													125	73					0	0	1	0	0
PAN3	255967	broad.mit.edu	37	13	28851435	28851435	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr13:28851435G>C	ENST00000399613.1	+	14	1574	c.1511G>C	c.(1510-1512)gGa>gCa	p.G504A	PAN3_ENST00000282391.5_Missense_Mutation_p.G392A|PAN3_ENST00000380958.3_Missense_Mutation_p.G704A			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	704	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TCTTTGGCAGGAATTCAGCGA	0.333000													10	122					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48951053	48951053	+	Splice_Site	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr13:48951053G>C	ENST00000267163.4	+	13	1353		c.e13-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACCTCCTAAAGAACTGCACAG	0.318000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			62	10					0	0	1	0	0
F12	2161	broad.mit.edu	37	5	176829433	176829433	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:176829433C>G	ENST00000253496.3	-	14	1756	c.1708G>C	c.(1708-1710)Gag>Cag	p.E570Q		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	570	Peptidase S1.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			GCTTGGTCCTCACACACCAGC	0.647000									Hereditary Angioedema				3	27					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49728874	49728874	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:49728874G>A	ENST00000327697.6	+	3	243	c.99G>A	c.(97-99)aaG>aaA	p.K33K	RNF123_ENST00000432042.1_Intron	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	33						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TGCAGGAGAAGCTGCTGAATG	0.582000													8	68					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11049492	11049492	+	RNA	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr21:11049492G>T	ENST00000470054.1	-	0	616									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)		TTGCCAACCTGCACGTTTTAA	0.443000													32	254					5.43694e-19	5.97888e-19	1	1	0
PAX3	5077	broad.mit.edu	37	2	223161757	223161757	+	Silent	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:223161757C>A	ENST00000350526.4	-	2	397	c.261G>T	c.(259-261)ctG>ctT	p.L87L	PAX3_ENST00000392070.2_Silent_p.L87L|PAX3_ENST00000336840.6_Silent_p.L87L|PAX3_ENST00000409828.3_Silent_p.L87L|PAX3_ENST00000392069.2_Silent_p.L87L|PAX3_ENST00000258387.5_Silent_p.L87L|PAX3_ENST00000409551.3_Silent_p.L87L|PAX3_ENST00000344493.4_Silent_p.L87L	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	87	Paired.				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTACCTGCACAGGATCTTGG	0.667000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						5	33					8.12818e-05	8.38564e-05	1	1	0
STON2	85439	broad.mit.edu	37	14	81737165	81737165	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr14:81737165C>T	ENST00000555447.1	-	7	2874	c.2462G>A	c.(2461-2463)cGg>cAg	p.R821Q	STON2_ENST00000267540.2_Missense_Mutation_p.R821Q	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	821	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			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)		AGGCACTTCCCGGTCAGAGCC	0.488000													19	93					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2222482	2222482	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:2222482C>T	ENST00000398665.3	+	24	3350	c.3314C>T	c.(3313-3315)cCc>cTc	p.P1105L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1105						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		GGCGTGTCCCCCAAGCGCCGA	0.697000													5	17					0	0	1	0	0
OXSR1	9943	broad.mit.edu	37	3	38278396	38278396	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:38278396G>A	ENST00000311806.3	+	11	1390	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	OXSR1_ENST00000446845.1_Missense_Mutation_p.D340N	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	340					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGAGTGGAGTGATGATGAATT	0.428000													48	153					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61505560	61505560	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:61505560C>G	ENST00000398571.2	-	40	5351	c.5275G>C	c.(5275-5277)Gat>Cat	p.D1759H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1759					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GCCAAGGCATCTAAGTCGAGG	0.269000													4	17					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430948	37430948	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr10:37430948C>G	ENST00000374660.1	+	7	1054	c.955C>G	c.(955-957)Cca>Gca	p.P319A	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P319A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	375						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						ATTTACGTGGCCAGCAAAAGG	0.423000													5	157					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152275827	152275827	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:152275827G>A	ENST00000368799.1	-	3	11570	c.11535C>T	c.(11533-11535)tcC>tcT	p.S3845S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3845	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S3845S(2)		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)			CACCCTGGCCGGACTGTGAGT	0.587000									Ichthyosis				7	801					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156815855	156815855	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:156815855C>T	ENST00000368195.3	-	9	2263	c.1867G>A	c.(1867-1869)Gtg>Atg	p.V623M	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	623	Fibronectin type-III 2.				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)					TTCCAGCGCACCAGGAGGTGG	0.617000													18	65					0	0	1	0	0
C9orf43	257169	broad.mit.edu	37	9	116191590	116191590	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:116191590C>G	ENST00000288462.4	+	14	1756	c.1310C>G	c.(1309-1311)tCt>tGt	p.S437C	C9orf43_ENST00000374165.1_Missense_Mutation_p.S437C	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	437										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						GGCTGGAACTCTGAGCTCAAA	0.498000													14	78					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40661910	40661910	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr22:40661910G>A	ENST00000454349.2	+	5	1887	c.1676G>A	c.(1675-1677)gGa>gAa	p.G559E	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.G559E|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	559					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CCCTGTTGGGGAAGATCTTCC	0.532000													19	44					0	0	1	0	0
NR6A1	2649	broad.mit.edu	37	9	127285047	127285047	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:127285047C>T	ENST00000487099.2	-	10	1537	c.1380G>A	c.(1378-1380)gaG>gaA	p.E460E	NR6A1_ENST00000344523.4_Silent_p.E459E|NR6A1_ENST00000416460.2_Silent_p.E455E|NR6A1_ENST00000373584.3_Silent_p.E456E	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	460					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						GGGGCAGCTGCTCCAGGGGCA	0.582000													4	5					0	0	1	0	0
DUS2	54920	broad.mit.edu	37	16	68087474	68087474	+	Silent	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:68087474C>G	ENST00000565263.1	+	5	674	c.180C>G	c.(178-180)ctC>ctG	p.L60L	DUS2_ENST00000432752.1_Silent_p.L60L|DUS2_ENST00000358896.6_Silent_p.L60L	NM_017803.3	NP_060273.1			dihydrouridine synthase 2	60																	CAGAGGTGCTCAGCACAGTGG	0.498000													12	70					0	0	1	0	0
C17orf80	55028	broad.mit.edu	37	17	71232370	71232370	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:71232370G>A	ENST00000359042.2	+	3	943	c.749G>A	c.(748-750)aGa>aAa	p.R250K	C17orf80_ENST00000255557.4_Missense_Mutation_p.R250K|C17orf80_ENST00000268942.8_Missense_Mutation_p.R250K|C17orf80_ENST00000535032.2_Missense_Mutation_p.R250K|C17orf80_ENST00000426147.2_Missense_Mutation_p.R250K|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000577615.1_Missense_Mutation_p.R250K|C17orf80_ENST00000582793.1_Intron	NM_017941.4	NP_060411	Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	250						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			AGCAATGAGAGAGATTCCAAA	0.393000													12	72					0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57131752	57131752	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:57131752C>T	ENST00000296318.7	-	12	2067	c.1979G>A	c.(1978-1980)cGg>cAg	p.R660Q	IL17RD_ENST00000320057.5_Missense_Mutation_p.R516Q|IL17RD_ENST00000463523.1_Missense_Mutation_p.R516Q|IL17RD_ENST00000427856.2_Missense_Mutation_p.R636Q	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	660						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GCCTGAGTCCCGCGGCATGTC	0.647000													10	17					0	0	1	0	0
PGGT1B	5229	broad.mit.edu	37	5	114573558	114573558	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:114573558C>T	ENST00000419445.1	-	4	496	c.476G>A	c.(475-477)gGg>gAg	p.G159E	PGGT1B_ENST00000379615.3_Missense_Mutation_p.G159E	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	159					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	CTCATACCTCCCATCTTCCAG	0.368000													71	10					0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31489599	31489599	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr22:31489599G>A	ENST00000404574.1	+	1	256	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	SMTN_ENST00000333137.7_Intron|SMTN_ENST00000358743.1_Intron|SMTN_ENST00000347557.2_Intron			P53814	SMTN_HUMAN	smoothelin	0					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						CCGGGCAGCTGAAGAGCTGCG	0.692000													6	7					0	0	1	0	0
HRH3	11255	broad.mit.edu	37	20	60791551	60791551	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr20:60791551G>A	ENST00000340177.5	-	3	1133	c.849C>T	c.(847-849)ggC>ggT	p.G283G	HRH3_ENST00000317393.6_Silent_p.G283G	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	283					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CGGCCTCAGCGCCTACGGCCG	0.746000													4	19					0	0	1	0	0
MYNN	55892	broad.mit.edu	37	3	169500368	169500368	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:169500368G>T	ENST00000349841.5	+	5	1999	c.1336G>T	c.(1336-1338)Gat>Tat	p.D446Y	MYNN_ENST00000544106.1_Missense_Mutation_p.D446Y|MYNN_ENST00000392733.1_Missense_Mutation_p.D446Y|MYNN_ENST00000356716.4_Missense_Mutation_p.D446Y	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	446						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TTATGTATGTGATACCTGTGG	0.428000													7	143					0.000274275	0.000281688	1	1	0
PLA2G4C	8605	broad.mit.edu	37	19	48556259	48556259	+	Silent	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:48556259C>A	ENST00000354276.3	-	16	1902	c.1575G>T	c.(1573-1575)gtG>gtT	p.V525V	PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000599111.1_Silent_p.V535V|PLA2G4C_ENST00000599921.1_Silent_p.V525V|PLA2G4C_ENST00000413144.2_Silent_p.V525V	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	525	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CCTACCCGGCCACGTTCATCA	0.493000													18	109					1.00905e-13	1.08691e-13	1	1	0
ZIC5	85416	broad.mit.edu	37	13	100622442	100622442	+	Silent	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr13:100622442G>C	ENST00000267294.4	-	1	1721	c.1488C>G	c.(1486-1488)ccC>ccG	p.P496P		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	496					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGCCGCAGCCGGGGAAAGGGC	0.652000													15	167					0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42751982	42751982	+	Missense_Mutation	SNP	A	A	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr21:42751982A>C	ENST00000330714.3	+	4	665	c.481A>C	c.(481-483)Aag>Cag	p.K161Q	MX2_ENST00000543692.1_Intron	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	161					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GAAACTGAAAAAGCAGCCCTG	0.542000													20	83					0	0	1	0	0
ZNF283	284349	broad.mit.edu	37	19	44352525	44352525	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:44352525G>C	ENST00000324461.7	+	7	2069	c.1772G>C	c.(1771-1773)aGa>aCa	p.R591T	ZNF283_ENST00000588797.1_Missense_Mutation_p.R452T	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				AAGCATGAGAGAGTCCATACT	0.413000													10	102					0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3477236	3477236	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:3477236C>T	ENST00000174621.6	-	12	2077	c.1788G>A	c.(1786-1788)ctG>ctA	p.L596L	TRPV1_ENST00000310522.5_Silent_p.L538L|TRPV1_ENST00000576351.1_Silent_p.L588L|SHPK_ENST00000572705.1_Silent_p.L598L|TRPV1_ENST00000425167.2_Silent_p.L609L|TRPV1_ENST00000399756.4_Silent_p.L598L|TRPV1_ENST00000399759.3_Silent_p.L598L|TRPV1_ENST00000571088.1_Silent_p.L598L			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	598					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CGTCTTCAATCAGCGTCACCA	0.617000													24	4					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080530	42080530	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr21:42080530C>T	ENST00000400454.1	-	2	688	c.211G>A	c.(211-213)Ggg>Agg	p.G71R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	71	Ig-like C2-type 1.				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)				TGGCGGATCCCGGGGACATCG	0.567000													89	123					0	0	1	0	0
ACER3	55331	broad.mit.edu	37	11	76637639	76637639	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:76637639A>G	ENST00000532485.1	+	2	246	c.142A>G	c.(142-144)Atg>Gtg	p.M48V	ACER3_ENST00000526597.1_5'UTR|ACER3_ENST00000538157.1_Missense_Mutation_p.M6V|ACER3_ENST00000533873.1_Intron|ACER3_ENST00000530182.1_3'UTR	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN	alkaline ceramidase 3	48					ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						TATACCTCCAATGTTCGGTGC	0.343000													6	106					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118375019	118375019	+	Silent	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:118375019C>A	ENST00000534358.1	+	27	8435	c.8412C>A	c.(8410-8412)ctC>ctA	p.L2804L	KMT2A_ENST00000354520.4_Silent_p.L2763L|KMT2A_ENST00000389506.5_Silent_p.L2801L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AAGCTCAGCTCAGCTCATTGG	0.448000													33	149					6.84511e-11	7.3043e-11	1	1	0
DOT1L	84444	broad.mit.edu	37	19	2227055	2227055	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:2227055C>G	ENST00000398665.3	+	27	4571	c.4535C>G	c.(4534-4536)tCc>tGc	p.S1512C		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1512						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		CACGTGTCGTCCGCTGCCACC	0.706000													7	11					0	0	1	0	0
FAHD2B	151313	broad.mit.edu	37	2	97757250	97757250	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:97757250G>T	ENST00000414820.1	-	3	464	c.194C>A	c.(193-195)aCg>aAg	p.T65K	FAHD2B_ENST00000272610.3_Missense_Mutation_p.T65K|FAHD2B_ENST00000440566.2_Missense_Mutation_p.T65K|FAHD2B_ENST00000468548.1_Intron			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	65							hydrolase activity|metal ion binding			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						CTGCGTCATCGTCTTTGGGAG	0.607000													30	63					3.73988e-18	4.10607e-18	1	1	0
ZFYVE20	64145	broad.mit.edu	37	3	15116075	15116075	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:15116075C>G	ENST00000253699.3	-	14	2182	c.1569G>C	c.(1567-1569)caG>caC	p.Q523H	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.Q523H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	523	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CACGCAACATCTGCAGCTGTT	0.607000													5	172					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56481823	56481823	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:56481823G>C	ENST00000267101.3	+	7	1191	c.751G>C	c.(751-753)Gac>Cac	p.D251H	ERBB3_ENST00000415288.2_Missense_Mutation_p.D192H|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	251					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCACTTCAATGACAGTGGAGC	0.507000													84	12					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38633939	38633939	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:38633939C>T	ENST00000254051.6	-	13	2207	c.2049G>A	c.(2047-2049)gaG>gaA	p.E683E		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	683	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGCATACGTTCTCCTGAGGCT	0.607000													24	156					0	0	1	0	0
STT3A	3703	broad.mit.edu	37	11	125489914	125489914	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:125489914C>G	ENST00000392708.4	+	17	2131	c.1972C>G	c.(1972-1974)Cca>Gca	p.P658A	STT3A_ENST00000526364.1_3'UTR|STT3A_ENST00000529196.1_Missense_Mutation_p.P658A|STT3A_ENST00000531491.1_Missense_Mutation_p.P566A	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	658					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		AGAGCGTCCTCCAGGCTTTGA	0.433000													6	33					0	0	1	0	0
OVOL1	5017	broad.mit.edu	37	11	65561515	65561515	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:65561515C>T	ENST00000335987.3	+	2	466	c.114C>T	c.(112-114)ttC>ttT	p.F38F	OVOL1_ENST00000531907.1_3'UTR|OVOL1_ENST00000532448.1_5'UTR	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	38					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		GCCTGGGCTTCTGCCCACCAC	0.607000													21	36					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097																		p.A803V(4)		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						CATGTCCCTCGCCCTTTCGGT	0.463000													3	32					0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124191342	124191342	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:124191342C>G	ENST00000303372.5	+	16	1967	c.1839C>G	c.(1837-1839)atC>atG	p.I613M	TCTN2_ENST00000426174.2_Missense_Mutation_p.I612M	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	613					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TTCTCCCTATCAGTGCATCCG	0.493000													4	100					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21798135	21798135	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:21798135G>C	ENST00000318220.6	+	8	1400	c.352G>C	c.(352-354)Gat>Cat	p.D118H	NBPF3_ENST00000318249.5_Missense_Mutation_p.D174H|NBPF3_ENST00000454000.2_Missense_Mutation_p.D104H|NBPF3_ENST00000342104.5_Missense_Mutation_p.D174H			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	174						cytoplasm		p.D174N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGAAGGGAGAGATGCCTCCCG	0.532000													87	211					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18301459	18301459	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:18301459G>A	ENST00000396253.3	-	22	3480	c.3018C>T	c.(3016-3018)tgC>tgT	p.C1006C	HPS5_ENST00000537258.1_3'UTR|HPS5_ENST00000349215.3_Silent_p.C1120C|HPS5_ENST00000438420.2_Silent_p.C1006C	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1120						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GAAACCGATCGCATTTTTCAA	0.393000									Hermansky-Pudlak syndrome				18	39					0	0	1	0	0
CHPT1	56994	broad.mit.edu	37	12	102107984	102107984	+	Silent	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:102107984C>G	ENST00000549872.1	+	2	580	c.390C>G	c.(388-390)ctC>ctG	p.L130L	CHPT1_ENST00000229266.3_Silent_p.L130L|CHPT1_ENST00000550385.1_3'UTR			Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	130					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TAGGGGAGCTCTTTGACCATG	0.383000													32	147					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106331	27106331	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:27106331G>A	ENST00000324856.7	+	20	6313	c.5942G>A	c.(5941-5943)tGc>tAc	p.C1981Y	ARID1A_ENST00000540690.1_Missense_Mutation_p.C309Y|ARID1A_ENST00000374152.2_Missense_Mutation_p.C1598Y|ARID1A_ENST00000457599.2_Missense_Mutation_p.C1764Y	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1981					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCAAGCGCTGCGTCTGTGTG	0.542000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								82	39					0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76990404	76990404	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:76990404T>C	ENST00000315938.4	-	3	344	c.94A>G	c.(94-96)Att>Gtt	p.I32V	GDPD4_ENST00000376217.2_Missense_Mutation_p.I32V|GDPD4_ENST00000527489.1_Intron	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	32					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						AGAATAAAAATAGACCAGAAA	0.388000													35	34					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8419940	8419940	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:8419940C>T	ENST00000337907.3	-	20	4136	c.3502G>A	c.(3502-3504)Gag>Aag	p.E1168K	RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.E1168K|RERE_ENST00000476556.1_Missense_Mutation_p.E614K|RERE_ENST00000377464.1_Missense_Mutation_p.E900K	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1168					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTGGCCTTCTCAATGGCCTCC	0.642000													6	76					0	0	1	0	0
HSPA1A	3303	broad.mit.edu	37	6	31785354	31785354	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:31785354C>G	ENST00000375651.5	+	1	2064	c.1821C>G	c.(1819-1821)atC>atG	p.I607M	HSPA1A_ENST00000608703.1_Missense_Mutation_p.I442M|HSPA1A_ENST00000458062.2_Missense_Mutation_p.I516M	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	607					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			endometrium(1)|ovary(1)|stomach(1)	3						ACCCCATCATCAGCGGACTGT	0.632000													19	65					0	0	1	0	0
FAM169A	26049	broad.mit.edu	37	5	74096840	74096840	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:74096840G>C	ENST00000389156.4	-	10	1058	c.968C>G	c.(967-969)tCt>tGt	p.S323C	FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Missense_Mutation_p.S263C	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	323										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						AGTGGAAACAGATGTTTTATC	0.353000													18	102					0	0	1	0	0
FCHSD2	9873	broad.mit.edu	37	11	72554550	72554550	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:72554550C>G	ENST00000409314.1	-	16	1711	c.1543G>C	c.(1543-1545)Gag>Cag	p.E515Q	FCHSD2_ENST00000409853.1_Missense_Mutation_p.E435Q|ATG16L2_ENST00000534905.1_3'UTR|FCHSD2_ENST00000311172.7_Missense_Mutation_p.E435Q|FCHSD2_ENST00000458644.2_Missense_Mutation_p.E355Q|FCHSD2_ENST00000409418.4_Missense_Mutation_p.E491Q|FCHSD2_ENST00000409263.1_5'UTR			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	491	SH3 1.						protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TCATGTTCCTCAATGGTCAAC	0.403000													17	59					0	0	1	0	0
SCLY	51540	broad.mit.edu	37	2	239002507	239002507	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:239002507G>A	ENST00000254663.6	+	9	1093	c.951G>A	c.(949-951)gcG>gcA	p.A317A	SCLY_ENST00000429612.2_Silent_p.A103A|SCLY_ENST00000422984.2_Silent_p.A215A|SCLY_ENST00000555827.1_Silent_p.A309A	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	309					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CCCAGGCCGCGGAGCTGGTGA	0.567000													14	13					0	0	1	0	0
SRSF11	9295	broad.mit.edu	37	1	70716336	70716336	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:70716336G>A	ENST00000370950.3	+	13	1385	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	SRSF11_ENST00000370949.1_Missense_Mutation_p.E375K|SRSF11_ENST00000370951.1_Missense_Mutation_p.E434K|SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000405432.1_Missense_Mutation_p.E435K			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	435					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			large_intestine(3)|ovary(2)|skin(1)	6						GTATGACAGTGAGAAAGAGAA	0.373000													5	73					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55626579	55626579	+	Silent	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr10:55626579G>T	ENST00000373965.2	-	28	3955	c.3561C>A	c.(3559-3561)gcC>gcA	p.A1187A	PCDH15_ENST00000437009.1_Silent_p.A1109A|PCDH15_ENST00000320301.6_Silent_p.A1180A|PCDH15_ENST00000395445.1_Silent_p.A1187A|PCDH15_ENST00000395432.2_Silent_p.A1143A|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Silent_p.A791A|PCDH15_ENST00000361849.3_Silent_p.A1180A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Silent_p.A1185A|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Silent_p.A1180A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Silent_p.A1158A|PCDH15_ENST00000395430.1_Silent_p.A1180A	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1180	Cadherin 11.				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)				TGAGTCTGTAGGCCATGACAC	0.353000										HNSCC(58;0.16)			37	33					4.14481e-20	4.5653e-20	1	1	0
KANK1	23189	broad.mit.edu	37	9	732472	732472	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:732472G>C	ENST00000382303.1	+	10	3752	c.3100G>C	c.(3100-3102)Gaa>Caa	p.E1034Q	KANK1_ENST00000382293.3_Missense_Mutation_p.E876Q|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.E1034Q	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1034					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCCTCTTGAAGAAGAGGAGGA	0.458000													25	128					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179395896	179395896	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:179395896G>C	ENST00000589042.1	-	358	105670	c.105446C>G	c.(105445-105447)tCt>tGt	p.S35149C	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S26209C|TTN_ENST00000460472.2_Missense_Mutation_p.S26084C|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S32581C|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S26276C|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S33508C|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33508							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)			GGTGTCACAAGAAAACCTTGC	0.507000													28	196					0	0	1	0	0
AGMAT	79814	broad.mit.edu	37	1	15911258	15911258	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:15911258C>T	ENST00000375826.3	-	1	347	c.205G>A	c.(205-207)Gag>Aag	p.E69K	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	69					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)		TCCAGCCCCTCGGGGGAGGTC	0.731000													9	20					0	0	1	0	0
CLIC1	1192	broad.mit.edu	37	6	31700070	31700070	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:31700070G>C	ENST00000375780.2	-	6	1060	c.488C>G	c.(487-489)tCt>tGt	p.S163C	CLIC1_ENST00000375779.2_Missense_Mutation_p.S163C|CLIC1_ENST00000395892.1_Missense_Mutation_p.S163C|CLIC1_ENST00000375784.3_Missense_Mutation_p.S163C			O00299	CLIC1_HUMAN	chloride intracellular channel 1	163	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						CTTCCTCTGAGAGACACCTTC	0.488000													38	107					0	0	1	0	0
FBXL2	25827	broad.mit.edu	37	3	33406161	33406161	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:33406161G>A	ENST00000484457.1	+	5	331	c.240G>A	c.(238-240)ctG>ctA	p.L80L	FBXL2_ENST00000538892.1_Silent_p.L80L|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Silent_p.L80L|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_5'UTR	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	80					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GTGGATTCCTGAGGAAGCTCA	0.448000													41	265					0	0	1	0	0
C18orf8	29919	broad.mit.edu	37	18	21106668	21106668	+	Silent	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr18:21106668C>G	ENST00000269221.3	+	13	1238	c.1128C>G	c.(1126-1128)ctC>ctG	p.L376L	C18orf8_ENST00000590868.1_Silent_p.L328L	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	376										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGGAAGACTCATGGACTTTC	0.438000													4	120					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6701173	6701173	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:6701173C>G	ENST00000309577.6	-	20	3162	c.2999G>C	c.(2998-3000)cGa>cCa	p.R1000P	CHD4_ENST00000357008.2_Missense_Mutation_p.R1000P|CHD4_ENST00000544040.1_Missense_Mutation_p.R993P|CHD4_ENST00000544484.1_Missense_Mutation_p.R997P			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1000					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GCCACCACCTCGGGCATTGAG	0.463000													20	91					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68044192	68044192	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr8:68044192G>A	ENST00000262210.5	+	14	1720	c.1689G>A	c.(1687-1689)acG>acA	p.T563T	CSPP1_ENST00000412460.1_Silent_p.T269T	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	598						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GTAGGAATACGGTTGGACAGA	0.313000													16	58					0	0	1	0	0
LCORL	254251	broad.mit.edu	37	4	17963571	17963571	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr4:17963571C>G	ENST00000326877.4	-	4	509	c.385G>C	c.(385-387)Gaa>Caa	p.E129Q	LCORL_ENST00000512376.2_5'UTR|LCORL_ENST00000382226.5_Missense_Mutation_p.E129Q|LCORL_ENST00000539056.1_Missense_Mutation_p.E42Q|LCORL_ENST00000382224.1_Missense_Mutation_p.E45Q	NM_153686.7	NP_710153.2	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						GCTTGGCATTCAATCTTATCA	0.353000													17	16					0	0	1	0	0
FAM132A	388581	broad.mit.edu	37	1	1179464	1179464	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:1179464G>C	ENST00000330388.2	-	4	432	c.401C>G	c.(400-402)tCa>tGa	p.S134*		NM_001014980.2	NP_001014980.1	Q5T7M4	F132A_HUMAN	family with sequence similarity 132, member A	134						extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2	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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAGAAGCCCTGAGAACCGGCG	0.741000													9	23					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10102470	10102470	+	Splice_Site	SNP	A	A	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chrX:10102470A>T	ENST00000380861.4	+	19	2989		c.e19-1		WWC3_ENST00000454666.1_Splice_Site	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3											NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						ACCACTCCCTAGGTTGATAAG	0.507000													137	18					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37564295	37564295	+	Silent	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:37564295G>T	ENST00000300651.6	-	17	4402	c.4179C>A	c.(4177-4179)atC>atA	p.I1393I	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1393	Interaction with TP53.|Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCTTACTGATGATAATTTTTG	0.458000										HNSCC(31;0.082)			4	112					1	1	1	1	0
MRPS6	64968	broad.mit.edu	37	21	35514791	35514791	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr21:35514791G>C	ENST00000399312.2	+	3	447	c.269G>C	c.(268-270)aGa>aCa	p.R90T	MRPS6_ENST00000482679.1_3'UTR|AP000320.7_ENST00000362077.4_RNA	NM_032476.3	NP_115865.1	P82932	RT06_HUMAN	mitochondrial ribosomal protein S6	90					translation	mitochondrion|small ribosomal subunit	rRNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|pancreas(1)|skin(1)	6						GATGTGATTAGAGGGAATATT	0.413000													12	98					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79955335	79955335	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:79955335G>C	ENST00000360280.3	+	50	7155	c.6895G>C	c.(6895-6897)Gac>Cac	p.D2299H	VPS13A_ENST00000376634.4_Missense_Mutation_p.D2299H|VPS13A_ENST00000357409.5_Missense_Mutation_p.D2299H|VPS13A_ENST00000376636.3_Missense_Mutation_p.D2260H	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2299					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGTCACTATAGACCTGAGCAG	0.264000													7	52					0	0	1	0	0
UROS	7390	broad.mit.edu	37	10	127496021	127496021	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr10:127496021A>G	ENST00000368778.3	-	6	548	c.355T>C	c.(355-357)Tgt>Cgt	p.C119R	UROS_ENST00000368786.1_Missense_Mutation_p.C119R|UROS_ENST00000462490.1_5'UTR|UROS_ENST00000368774.1_Missense_Mutation_p.C119R|UROS_ENST00000368797.4_Missense_Mutation_p.C119R			P10746	HEM4_HUMAN	uroporphyrinogen III synthase	119					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				GCATTTCCACAGGTTTCTCCT	0.363000													32	7					0	0	1	0	0
CCNA2	890	broad.mit.edu	37	4	122740632	122740632	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr4:122740632C>T	ENST00000274026.5	-	5	1200	c.897G>A	c.(895-897)ttG>ttA	p.L299L		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	299					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TAAGGACTTTCAAAACTAGAT	0.388000													5	66					0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37515909	37515909	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:37515909G>C	ENST00000432825.2	-	10	2736	c.2688C>G	c.(2686-2688)ttC>ttG	p.F896L	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.F421L	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	896						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACTTTTTCTTGAAGACCAGGA	0.498000													44	137					0	0	1	0	0
HOXB9	3219	broad.mit.edu	37	17	46703274	46703274	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:46703274G>T	ENST00000311177.5	-	1	565	c.358C>A	c.(358-360)Ccg>Acg	p.P120T	HOXB9_ENST00000550387.1_Intron|HOXB7_ENST00000567101.2_Intron	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	120					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						CCCAGCAGCGGCTCCGCCTTC	0.726000													19	0					2.35188e-11	2.51357e-11	1	1	0
F2RL2	2151	broad.mit.edu	37	5	75914061	75914061	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:75914061G>T	ENST00000296641.4	-	2	674	c.471C>A	c.(469-471)aaC>aaA	p.N157K	IQGAP2_ENST00000274364.6_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.N135K|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	157					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		ATACCCAGTTGTTCCCATTGA	0.463000													57	16					1.03172e-35	1.14748e-35	1	1	0
OR52K1	390036	broad.mit.edu	37	11	4510912	4510912	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:4510912C>T	ENST00000307632.3	+	1	804	c.782C>T	c.(781-783)tCa>tTa	p.S261L		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTCATCTCTTCAGTCATGCAC	0.517000													31	196					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46583391	46583391	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:46583391G>A	ENST00000263734.3	+	3	829	c.319G>A	c.(319-321)Gac>Aac	p.D107N		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	107	PAS 1.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CCAAGATGGCGACATGATCTT	0.473000													17	91					0	0	1	0	0
WAS	7454	broad.mit.edu	37	X	48546837	48546837	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chrX:48546837G>A	ENST00000376701.4	+	9	1001	c.926G>A	c.(925-927)cGc>cAc	p.R309H		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	309					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)				GAGATGAGGCGCCAGGGTGAG	0.562000			"""Mis, N, F, S"""			lymphoma							12	17					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19419955	19419955	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:19419955C>A	ENST00000375267.2	-	96	13966	c.13963G>T	c.(13963-13965)Gat>Tat	p.D4655Y	UBR4_ENST00000375217.2_Missense_Mutation_p.D4648Y|UBR4_ENST00000543981.1_Missense_Mutation_p.D319Y|UBR4_ENST00000375224.1_Missense_Mutation_p.D362Y|UBR4_ENST00000375254.3_Missense_Mutation_p.D4655Y|UBR4_ENST00000375226.2_Missense_Mutation_p.D4631Y|UBR4_ENST00000429347.2_Missense_Mutation_p.D178Y|UBR4_ENST00000467272.2_5'UTR			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4655					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)		AAGACTTTATCATCACCACTG	0.468000													24	132					1.2476e-16	1.35885e-16	1	1	0
HFM1	164045	broad.mit.edu	37	1	91733380	91733380	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:91733380C>A	ENST00000370425.3	-	35	3903	c.3805G>T	c.(3805-3807)Gaa>Taa	p.E1269*	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Nonsense_Mutation_p.E948*|HFM1_ENST00000294696.5_Nonsense_Mutation_p.E501*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1269							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)		TCCCAAACTTCATTTCCCAAT	0.308000													20	26					3.62473e-10	3.85586e-10	1	1	0
VCAM1	7412	broad.mit.edu	37	1	101190238	101190238	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:101190238C>T	ENST00000294728.2	+	4	821	c.720C>T	c.(718-720)ggC>ggT	p.G240G	VCAM1_ENST00000370119.4_Silent_p.G178G|VCAM1_ENST00000347652.2_Silent_p.G240G|VCAM1_ENST00000370115.1_Silent_p.G240G	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	240	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AAGAAGGTGGCTCTGTGACCA	0.413000													48	29					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5355627	5355627	+	Silent	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:5355627G>C	ENST00000399537.4	-	25	7170	c.6822C>G	c.(6820-6822)ctC>ctG	p.L2274L	TNRC18_ENST00000430969.1_Silent_p.L2274L			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2274							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGATATGTGAGAGGGGGATCC	0.612000													4	59					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21557738	21557738	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr13:21557738C>T	ENST00000382592.4	-	5	2512	c.2107G>A	c.(2107-2109)Gat>Aat	p.D703N	LATS2_ENST00000542899.1_Missense_Mutation_p.D703N	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	703	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTCAGGACATCCTTTTTCCTT	0.547000													66	172					0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2407129	2407129	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chrX:2407129G>C	ENST00000381223.4	-	2	1835	c.1632C>G	c.(1630-1632)atC>atG	p.I544M	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.I544M|ZBED1_ENST00000381218.3_Missense_Mutation_p.I544M	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	544						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		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)				GCATGTTGTTGATGACGCTGG	0.647000													34	44					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577551	7577551	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:7577551C>A	ENST00000420246.2	-	7	862	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C	TP53_ENST00000455263.2_Missense_Mutation_p.G244C|TP53_ENST00000413465.2_Missense_Mutation_p.G244C|TP53_ENST00000269305.4_Missense_Mutation_p.G244C|TP53_ENST00000445888.2_Missense_Mutation_p.G244C|TP53_ENST00000359597.4_Missense_Mutation_p.G244C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	244	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|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|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCATGCCGCCCATGCAGGAA	0.582000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			46	14					4.44712e-29	4.93804e-29	1	1	0
INPP5B	3633	broad.mit.edu	37	1	38409338	38409338	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:38409338G>A	ENST00000373023.2	-	5	347	c.254C>T	c.(253-255)tCc>tTc	p.S85F	INPP5B_ENST00000373021.1_Missense_Mutation_p.S85F|INPP5B_ENST00000373024.3_Missense_Mutation_p.S85F|INPP5B_ENST00000373026.1_Missense_Mutation_p.S85F	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	85					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)				ACCATCTGGGGACACTGTGGG	0.547000													37	20					0	0	1	0	0
PKNOX1	5316	broad.mit.edu	37	21	44433252	44433252	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr21:44433252C>G	ENST00000291547.5	+	5	637	c.426C>G	c.(424-426)ttC>ttG	p.F142L	PKNOX1_ENST00000432907.2_Missense_Mutation_p.F25L	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	142							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GCAAAGATTTCTGCAGTCGAT	0.438000													21	126					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	417135	417135	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:417135C>T	ENST00000399788.2	-	23	3777	c.3415G>A	c.(3415-3417)Gaa>Aaa	p.E1139K	KDM5A_ENST00000382815.4_Missense_Mutation_p.E1139K	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1139					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						TGCATGGCTTCAATCTCTTTT	0.433000			T	NUP98	AML								15	125					0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41194990	41194990	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:41194990C>G	ENST00000220509.5	+	5	2712	c.2373C>G	c.(2371-2373)ttC>ttG	p.F791L	VPS18_ENST00000558474.1_3'UTR	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	791					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGCTGCCCTTCTTTCCTGATT	0.557000													7	65					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45481968	45481968	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:45481968G>C	ENST00000331493.2	+	20	2613	c.2202G>C	c.(2200-2202)ttG>ttC	p.L734F	EFCAB13_ENST00000517484.1_Missense_Mutation_p.L638F	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		TGAGGGCTTTGAGGGACACCC	0.358000													5	42					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39869234	39869234	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:39869234C>T	ENST00000538976.1	+	24	3147	c.2965C>T	c.(2965-2967)Cgc>Tgc	p.R989C	DAAM2_ENST00000398904.2_Missense_Mutation_p.R990C|DAAM2_ENST00000274867.4_Missense_Mutation_p.R990C	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	990	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R989C(3)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCGGCGGGCGCGCATGGAAGC	0.622000													21	37					0	0	1	0	0
HID1	283987	broad.mit.edu	37	17	72960689	72960689	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:72960689G>C	ENST00000425042.2	-	2	182	c.105C>G	c.(103-105)ttC>ttG	p.F35L	HID1_ENST00000532900.1_5'UTR	NM_030630.2	NP_085133.1			HID1 domain containing																		TGTCTGCCCAGAACTGGTCCC	0.627000													5	26					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68191073	68191073	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:68191073C>T	ENST00000294304.7	+	14	3250	c.3144C>T	c.(3142-3144)atC>atT	p.I1048I		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1048	Beta-propeller 4.				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						CCAATACCATCAACGTCCACA	0.642000													73	76					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34826499	34826499	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:34826499C>G	ENST00000265109.3	+	16	3001	c.2714C>G	c.(2713-2715)tCc>tGc	p.S905C	RAI14_ENST00000397449.1_Missense_Mutation_p.S898C|RAI14_ENST00000512629.1_Missense_Mutation_p.S876C|RAI14_ENST00000515799.1_Missense_Mutation_p.S908C|RAI14_ENST00000428746.2_Missense_Mutation_p.S905C|RAI14_ENST00000506376.1_Missense_Mutation_p.S897C|RAI14_ENST00000503673.1_Missense_Mutation_p.S905C	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	905						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TCCCAGCTCTCCTACTCAACA	0.507000													12	134					0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40751398	40751398	+	Silent	SNP	G	G	A	rs142289543	by1000genomes	TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:40751398G>A	ENST00000561234.1	+	2	994	c.735G>A	c.(733-735)ccG>ccA	p.P245P	BAHD1_ENST00000416165.1_Silent_p.P245P|BAHD1_ENST00000560846.1_Silent_p.P245P			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	245	Pro-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCAAGGCCCCGAGGCCAAAGT	0.657000													33	53					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113191474	113191474	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:113191474C>A	ENST00000401783.2	-	35	6092	c.5756G>T	c.(5755-5757)aGt>aTt	p.S1919I	SVEP1_ENST00000374469.1_Missense_Mutation_p.S1896I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1919	Sushi 9.				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						GGTAAGCCCACTCAAAATATA	0.398000													3	5					0.00024832	0.000255415	1	1	0
RRN3	54700	broad.mit.edu	37	16	15166894	15166894	+	Silent	SNP	C	C	G	rs146935511		TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:15166894C>G	ENST00000198767.6	-	12	1124	c.1041G>C	c.(1039-1041)ctG>ctC	p.L347L	RRN3_ENST00000327307.7_Silent_p.L314L|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000429751.2_Silent_p.L317L|RRN3_ENST00000540462.1_Silent_p.L165L|RRN3_ENST00000563559.1_Silent_p.L347L	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	347					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						AGATGTTTATCAGGTCGCGAT	0.378000													9	99					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9068649	9068649	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:9068649C>T	ENST00000383836.3	-	13	1997	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.E500K	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	524	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.E524K(1)	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)		ATGCAGCTCTCGACTACAAGC	0.428000			T	RAF1	pilocytic astrocytoma								35	98					0	0	1	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698851	111698851	+	Silent	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chrX:111698851C>A	ENST00000340433.2	+	1	1125	c.895C>A	c.(895-897)Cga>Aga	p.R299R		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	299							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAAACGTTCTCGAGCTCCGGC	0.488000													11	35					0.0809354	0.0817722	1	1	0
FREM2	341640	broad.mit.edu	37	13	39357307	39357307	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr13:39357307G>A	ENST00000280481.7	+	5	5958	c.5742G>A	c.(5740-5742)ttG>ttA	p.L1914L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1914	Calx-beta 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCCAGGAGTTGATGGTGGTCT	0.433000													125	17					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999675	46999675	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr10:46999675G>A	ENST00000374314.4	+	1	1750	c.795G>A	c.(793-795)gtG>gtA	p.V265V	GPRIN2_ENST00000374317.1_Silent_p.V265V			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	265										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TGGCGTCAGTGAGCGAGTCTG	0.617000													17	128					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215865652	215865652	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:215865652G>A	ENST00000272895.7	-	22	3175	c.2956C>T	c.(2956-2958)Cgg>Tgg	p.R986W	ABCA12_ENST00000389661.4_Missense_Mutation_p.R668W	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	986					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)		AGACTCATCCGGATGGTATAT	0.443000													4	136					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47864573	47864573	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr20:47864573C>A	ENST00000396105.1	-	14	5234	c.4988G>T	c.(4987-4989)cGg>cTg	p.R1663L	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1663L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1663							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)			GGCCTTAAGCCGTTCCTGGCT	0.502000													31	157					8.58068e-18	9.40575e-18	1	1	0
KRT5	3852	broad.mit.edu	37	12	52913568	52913568	+	Missense_Mutation	SNP	C	C	A	rs61726459		TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:52913568C>A	ENST00000252242.4	-	1	903	c.513G>T	c.(511-513)caG>caT	p.Q171H		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	171	Coil 1A.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGTCTTGATCTGCTCGCGCT	0.498000													7	188					3.09899e-07	3.23619e-07	1	1	0
FLNB	2317	broad.mit.edu	37	3	58108986	58108986	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:58108986C>G	ENST00000357272.4	+	21	3458	c.3293C>G	c.(3292-3294)tCt>tGt	p.S1098C	FLNB_ENST00000295956.4_Missense_Mutation_p.S1098C|FLNB_ENST00000419752.2_Missense_Mutation_p.S929C|FLNB_ENST00000429972.2_Missense_Mutation_p.S1098C|FLNB_ENST00000358537.3_Missense_Mutation_p.S1098C|FLNB_ENST00000493452.1_Missense_Mutation_p.S929C|FLNB_ENST00000348383.5_Missense_Mutation_p.S1098C|FLNB_ENST00000490882.1_Missense_Mutation_p.S1098C			O75369	FLNB_HUMAN	filamin B, beta	1098					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGCTCCGTCTCTTACCTTCCC	0.527000													5	213					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181726127	181726127	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:181726127G>T	ENST00000526775.1	+	29	4302	c.4137G>T	c.(4135-4137)gaG>gaT	p.E1379D	CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1330D|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1005D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1398D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1349D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1379D|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1398D	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1398					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						ACCGCATGGAGATGTCTATCT	0.493000													28	117					2.46105e-21	2.71948e-21	1	1	0
RBBP4	5928	broad.mit.edu	37	1	33145306	33145306	+	Nonstop_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:33145306G>C	ENST00000373493.5	+	12	1437	c.1278G>C	c.(1276-1278)taG>taC	p.*426Y	RBBP4_ENST00000458695.2_Nonstop_Mutation_p.*391Y|RBBP4_ENST00000544435.1_Nonstop_Mutation_p.*174Y|RBBP4_ENST00000414241.3_Nonstop_Mutation_p.*425Y|RBBP4_ENST00000373485.1_Intron	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	0					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)				AAGGGTCCTAGATATGTCTTT	0.388000													8	44					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692344	20692344	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr14:20692344G>A	ENST00000315519.2	+	1	554	c.476G>A	c.(475-477)tGt>tAt	p.C159Y		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	159					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)		GGGAAGTTCTGTATAATTCTG	0.458000													46	9					0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55826172	55826172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:55826172G>A	ENST00000272313.5	-	4	628	c.301C>T	c.(301-303)Caa>Taa	p.Q101*	SMEK2_ENST00000345102.5_Nonsense_Mutation_p.Q101*|SMEK2_ENST00000407823.3_Nonsense_Mutation_p.Q101*	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	101						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCTTTACCTTGAACCTAAAAA	0.348000													7	49					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109689832	109689832	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:109689832G>A	ENST00000277225.5	+	3	3928	c.3639G>A	c.(3637-3639)caG>caA	p.Q1213Q	ZNF462_ENST00000457913.1_Silent_p.Q1213Q|ZNF462_ENST00000441147.2_Silent_p.Q58Q			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1213					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						TTCATTATCAGAAGAAGCACC	0.522000													78	506					0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40257813	40257813	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr22:40257813C>A	ENST00000325157.6	-	3	799	c.549G>T	c.(547-549)gaG>gaT	p.E183D		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	183										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TATACTTCTTCTCTGAAGCAG	0.368000													20	22					1.55795e-14	1.68347e-14	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48353833	48353833	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:48353833C>T	ENST00000435803.1	+	26	9710	c.9686C>T	c.(9685-9687)tCa>tTa	p.S3229L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3229					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						TCTCAGGTTTCACAAAATGTC	0.373000													6	33					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52913562	52913562	+	Silent	SNP	C	C	T	rs58163069		TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:52913562C>T	ENST00000252242.4	-	1	909	c.519G>A	c.(517-519)aaG>aaA	p.K173K		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	173	Coil 1A.|Rod.		K -> N (in K-EBS; dbSNP:rs58163069).		epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTTGAGGGTCTTGATCTGCT	0.493000													8	190					0	0	1	0	0
STXBP1	6812	broad.mit.edu	37	9	130420710	130420710	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:130420710C>G	ENST00000373302.3	+	4	365	c.226C>G	c.(226-228)Ctc>Gtc	p.L76V	STXBP1_ENST00000373299.1_Missense_Mutation_p.L76V	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	76					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GGCTGTGTATCTCATCACTCC	0.488000													33	164					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98242761	98242761	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:98242761C>T	ENST00000430669.2	-	6	1243	c.658G>A	c.(658-660)Gag>Aag	p.E220K	PTCH1_ENST00000421141.1_Missense_Mutation_p.E135K|PTCH1_ENST00000375274.2_Missense_Mutation_p.E285K|PTCH1_ENST00000437951.1_Missense_Mutation_p.E220K|PTCH1_ENST00000429896.2_Missense_Mutation_p.E135K|PTCH1_ENST00000331920.6_Missense_Mutation_p.E286K|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000418258.1_Missense_Mutation_p.E135K			Q13635	PTC1_HUMAN	patched 1	286					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TGACCAACCTCAGCCTTATTC	0.502000													44	105					0	0	1	0	0
SPINT1	6692	broad.mit.edu	37	15	41148493	41148493	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:41148493G>A	ENST00000344051.4	+	10	1590	c.1356G>A	c.(1354-1356)ctG>ctA	p.L452L	SPINT1_ENST00000562057.1_Silent_p.L436L|SPINT1_ENST00000431806.1_Silent_p.L436L			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	452						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TGTTTGGCCTGAGGCGGGAAA	0.537000													11	100					0	0	1	0	0
LPAR2	9170	broad.mit.edu	37	19	19735129	19735129	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:19735129C>A	ENST00000542587.1	-	6	1894	c.992G>T	c.(991-993)gGa>gTa	p.G331V	LPAR2_ENST00000407877.3_Missense_Mutation_p.G331V|LPAR2_ENST00000586703.1_Missense_Mutation_p.G331V			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	331					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						GCTGGCACCTCCCTGGGCAGA	0.617000													74	111					1.34568e-36	1.49909e-36	1	1	0
NTNG2	84628	broad.mit.edu	37	9	135102364	135102364	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:135102364G>A	ENST00000393229.3	+	4	1762	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	NTNG2_ENST00000360670.3_Missense_Mutation_p.R329Q|NTNG2_ENST00000393228.4_Missense_Mutation_p.R329Q|NTNG2_ENST00000372179.3_Missense_Mutation_p.R329Q	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	329	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CGGTCCTGGCGGGCCGGCTCC	0.672000													26	23					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866295	131866295	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:131866295C>T	ENST00000359827.3	-	18	4299	c.3337G>A	c.(3337-3339)Gag>Aag	p.E1113K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1113K			Q9HCM2	PLXA4_HUMAN	plexin A4	1113	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane		p.E1113K(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCGGGCCTCTCGGTCAGGTCT	0.587000													56	64					0	0	1	0	0
GPATCH3	63906	broad.mit.edu	37	1	27223950	27223950	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:27223950C>A	ENST00000361720.5	-	2	741	c.718G>T	c.(718-720)Gag>Tag	p.E240*		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	240	Glu-rich.					intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TCTGAGTCCTCATACTCAAAA	0.582000													29	248					2.61193e-14	2.81792e-14	1	1	0
COG3	83548	broad.mit.edu	37	13	46103945	46103945	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr13:46103945G>A	ENST00000349995.5	+	21	2362	c.2250G>A	c.(2248-2250)gcG>gcA	p.A750A		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	750					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		ATGACCTTGCGGCAACTGCAT	0.343000													22	59					0	0	1	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58846238	58846238	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:58846238G>A	ENST00000329665.4	+	2	217	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	24	Poly-Glu.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E24Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		AGTGAAGGTGGAGGAGGAAGA	0.612000													10	105					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26851530	26851530	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:26851530G>A	ENST00000226247.2	+	2	162	c.133G>A	c.(133-135)Ggc>Agc	p.G45S	FOXN1_ENST00000579795.1_Missense_Mutation_p.G45S	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	45					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GAAGCATGCCGGCTTCAGCTG	0.632000													96	76					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59469468	59469468	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:59469468C>T	ENST00000588462.1	+	25	2835	c.2835C>T	c.(2833-2835)ttC>ttT	p.F945F	BCAS3_ENST00000585812.1_3'UTR|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000585744.1_Silent_p.F694F|BCAS3_ENST00000588874.1_Silent_p.F679F|BCAS3_ENST00000408905.3_Silent_p.F930F|BCAS3_ENST00000589222.1_3'UTR|BCAS3_ENST00000390652.5_Silent_p.F923F|BCAS3_ENST00000407086.3_Silent_p.F908F			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	923						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TCAGCCTCTTCCCGACTGGCT	0.617000													20	77					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49159409	49159409	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:49159409C>G	ENST00000418109.1	-	30	5055	c.4891G>C	c.(4891-4893)Gac>Cac	p.D1631H	LAMB2_ENST00000305544.4_Missense_Mutation_p.D1631H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1631	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)		TCCCGTGTGTCAGCCACTGCC	0.577000													18	142					0	0	1	0	0
CDK9	1025	broad.mit.edu	37	9	130551808	130551808	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:130551808G>C	ENST00000373265.2	+	7	1456	c.1456G>C	c.(1456-1458)Gag>Cag	p.E486Q	CDK9_ENST00000373264.4_Missense_Mutation_p.E369Q			P50750	CDK9_HUMAN	cyclin-dependent kinase 9	369					cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						GACGGAGTTTGAGCGCGTCTT	0.562000													8	89					0	0	1	0	0
VCL	7414	broad.mit.edu	37	10	75863615	75863615	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr10:75863615G>T	ENST00000211998.4	+	15	2154	c.2060G>T	c.(2059-2061)gGa>gTa	p.G687V	VCL_ENST00000372755.3_Missense_Mutation_p.G687V|VCL_ENST00000478896.2_3'UTR|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	687	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					AGGAACCCTGGAAATCAAGCT	0.413000													17	158					8.00594e-06	8.30966e-06	1	1	0
ITPKA	3706	broad.mit.edu	37	15	41794989	41794989	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:41794989C>T	ENST00000260386.5	+	6	1167	c.1114C>T	c.(1114-1116)Cgg>Tgg	p.R372W		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	372					signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TCTGCAGAGGCGGTATCTGAA	0.637000													6	28					0	0	1	0	0
PDGFD	80310	broad.mit.edu	37	11	104034555	104034555	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:104034555C>T	ENST00000302251.5	-	1	552	c.101G>A	c.(100-102)cGc>cAc	p.R34H	PDGFD_ENST00000393158.2_Missense_Mutation_p.R34H	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	34					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	p.R34H(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GTTGGCGTTGCGCAAAGCTTT	0.428000											OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	39					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108724021	108724021	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:108724021C>T	ENST00000232603.5	-	19	1991	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	MORC1_ENST00000483760.1_Missense_Mutation_p.E616K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	637					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATTTTTGTTTCTGAAATATAC	0.388000													25	46					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101817430	101817430	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:101817430G>A	ENST00000375001.3	+	33	3501	c.3078G>A	c.(3076-3078)ttG>ttA	p.L1026L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1026	Nonhelical region 7 (NC7).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGAACAACTTGAAGGTGAGTA	0.358000													14	233					0	0	1	0	0
FADD	8772	broad.mit.edu	37	11	70049771	70049771	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:70049771C>T	ENST00000301838.4	+	1	503	c.206C>T	c.(205-207)tCc>tTc	p.S69F		NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	69	DED.				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTGCTCGCCTCCCTGCGGCGC	0.756000													10	46					0	0	1	0	0
TBRG4	9238	broad.mit.edu	37	7	45144232	45144232	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:45144232C>T	ENST00000258770.3	-	4	933	c.812G>A	c.(811-813)cGg>cAg	p.R271Q	TBRG4_ENST00000361278.3_Intron|TBRG4_ENST00000395655.4_Intron|TBRG4_ENST00000494076.1_Missense_Mutation_p.R271Q	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	271					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						GGGCACGGACCGCCGGCTCTG	0.617000													4	55					0	0	1	0	0
MYL4	4635	broad.mit.edu	37	17	45297325	45297325	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:45297325C>T	ENST00000354968.1	+	4	347	c.219C>T	c.(217-219)atC>atT	p.I73I	MYL4_ENST00000572316.1_Silent_p.I73I|MYL4_ENST00000393450.1_Silent_p.I73I	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	73	EF-hand 1.				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						AGATGAAGATCACCTACGGCC	0.577000													6	43					0	0	1	0	0
DYNC1LI1	51143	broad.mit.edu	37	3	32568320	32568320	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:32568320T>C	ENST00000273130.4	-	13	1646	c.1543A>G	c.(1543-1545)Aca>Gca	p.T515A	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.T399A	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	515					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						GTAGGAGATGTAGGTGTTGTG	0.388000													43	69					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43543592	43543592	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:43543592C>G	ENST00000265351.7	-	1	220	c.10G>C	c.(10-12)Gat>Cat	p.D4H		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	4	Necessary for interaction with Ran.				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TTTACTTGATCCATCGCCATG	0.652000													18	137					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150654455	150654455	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:150654455G>A	ENST00000392968.2	-	3	1884	c.764C>T	c.(763-765)tCg>tTg	p.S255L	KCNH2_ENST00000262186.5_Missense_Mutation_p.S351L|KCNH2_ENST00000430723.3_Missense_Mutation_p.S351L			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	351					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	ACTGGTGGGCGAAGCCAAGAA	0.582000													6	26					0	0	1	0	0
RTN4IP1	84816	broad.mit.edu	37	6	107069332	107069332	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:107069332G>A	ENST00000539449.1	-	3	939	c.463C>T	c.(463-465)Ctt>Ttt	p.L155F	RTN4IP1_ENST00000369063.3_Missense_Mutation_p.L155F			Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	155						mitochondrion	oxidoreductase activity|zinc ion binding			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		AACTCTGAAAGAGTGCCTTGT	0.403000													14	59					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136625	40136625	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:40136625G>A	ENST00000278198.2	-	2	3181	c.1218C>T	c.(1216-1218)ctC>ctT	p.L406L	LRRC4C_ENST00000527150.1_Silent_p.L406L|LRRC4C_ENST00000528697.1_Silent_p.L406L|LRRC4C_ENST00000530763.1_Silent_p.L406L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	406	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding	p.L406L(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TACCATCACTGAGCACAGCTA	0.448000													68	135					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132190621	132190621	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:132190621A>G	ENST00000360971.2	+	13	1417	c.1397A>G	c.(1396-1398)tAc>tGc	p.Y466C		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	466	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)	CCAGATAAATACTATTCATGT	0.368000													66	12					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57890219	57890219	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr4:57890219C>T	ENST00000381227.1	+	22	3318	c.2905C>T	c.(2905-2907)Ccc>Tcc	p.P969S	POLR2B_ENST00000441246.2_Missense_Mutation_p.P962S|POLR2B_ENST00000431623.2_Missense_Mutation_p.P894S|POLR2B_ENST00000314595.5_Missense_Mutation_p.P969S			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	969					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CATCATCAATCCCCATGCCAT	0.373000													21	64					0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129962490	129962490	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:129962490G>A	ENST00000222482.4	+	11	1268	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	CPA4_ENST00000445470.2_Missense_Mutation_p.E381K|CPA4_ENST00000493259.1_Missense_Mutation_p.E310K	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	414					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GACCATCATGGAGCATGTGCG	0.532000													16	163					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106843619	106843619	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chrX:106843619G>C	ENST00000276185.4	+	16	2449	c.2449G>C	c.(2449-2451)Gag>Cag	p.E817Q				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	817				DMSEMMSAM -> ALKSWFHDL (in Ref. 2; BAB47446).		cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						AGACATGTCAGAGATGATGTC	0.557000													7	22					0	0	1	0	0
BHLHE22	27319	broad.mit.edu	37	8	65494174	65494174	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr8:65494174C>G	ENST00000321870.1	+	1	1361	c.827C>G	c.(826-828)tCg>tGg	p.S276W	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	276	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						CACAGCCCCTCGGTGCGAAAG	0.657000													11	49					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308719	140308719	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:140308719G>C	ENST00000253807.2	+	1	2242	c.2242G>C	c.(2242-2244)Gag>Cag	p.E748Q	PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E748Q|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTACAGTTGAGAGACTTTC	0.488000													19	79					0	0	1	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40825729	40825729	+	Missense_Mutation	SNP	C	C	T	rs147643829		TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:40825729C>T	ENST00000293349.6	-	4	852	c.422G>A	c.(421-423)cGt>cAt	p.R141H	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.R141H|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.R141H			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	141	PH.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCTCCCGAGACGCCGCGCCCC	0.697000													22	35					0	0	1	0	0
CUTC	51076	broad.mit.edu	37	10	101502964	101502964	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr10:101502964G>A	ENST00000370476.5	+	4	377	c.248G>A	c.(247-249)cGg>cAg	p.R83Q	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	83					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GTGATGATTCGGCCACGGGGA	0.408000													24	129					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123860839	123860839	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:123860839G>C	ENST00000373855.1	+	7	1057	c.797G>C	c.(796-798)aGa>aCa	p.R266T	CNTRL_ENST00000373865.2_Missense_Mutation_p.R266T|CNTRL_ENST00000238341.5_Missense_Mutation_p.R266T			Q7Z7A1	CNTRL_HUMAN	centriolin	266	LRRCT.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GCTTTTGAGAGATTCAGTTTA	0.348000													10	29					0	0	1	0	0
MAP3K12	7786	broad.mit.edu	37	12	53878961	53878961	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:53878961C>T	ENST00000267079.2	-	7	1144	c.919G>A	c.(919-921)Gag>Aag	p.E307K	MAP3K12_ENST00000547488.1_Missense_Mutation_p.E340K|MAP3K12_ENST00000547035.1_Missense_Mutation_p.E340K	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	307	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TAGGGGATCTCACCAGTCAGC	0.557000													18	70					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137300143	137300143	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:137300143C>G	ENST00000540193.1	+	2	1060	c.137C>G	c.(136-138)tCa>tGa	p.S46*	RXRA_ENST00000481739.1_Nonsense_Mutation_p.S143*|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	143	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GACCGCTCCTCAGGTACCGCT	0.657000													15	30					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62903477	62903477	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr4:62903477G>A	ENST00000512091.2	+	23	4163	c.3416G>A	c.(3415-3417)cGa>cAa	p.R1139Q	LPHN3_ENST00000507164.1_Missense_Mutation_p.R1198Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.R1198Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.R1207Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R1139Q|LPHN3_ENST00000514591.1_Missense_Mutation_p.R1139Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R1198Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.R1130Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.R1130Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.R1139Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.R1130Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.R1139Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.R1207Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R1198Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R1207Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AAATGCCTGCGAACACATTGC	0.423000													62	26					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579629	140579629	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:140579629G>T	ENST00000354757.3	+	1	282	c.282G>T	c.(280-282)gaG>gaT	p.E94D	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		94	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGGGAGGAGCTCTGCGGTT	0.483000													103	47					2.449e-38	2.73265e-38	1	1	0
GPRASP2	114928	broad.mit.edu	37	X	101972058	101972058	+	Missense_Mutation	SNP	A	A	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chrX:101972058A>C	ENST00000543253.1	+	5	3180	c.2261A>C	c.(2260-2262)aAa>aCa	p.K754T	GPRASP2_ENST00000535209.1_Missense_Mutation_p.K754T|GPRASP2_ENST00000332262.5_Missense_Mutation_p.K754T	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GTGGCAAAAAAACTATTCAGT	0.343000													79	14					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144996528	144996528	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr8:144996528C>G	ENST00000322810.4	-	32	8041	c.7872G>C	c.(7870-7872)gaG>gaC	p.E2624D	PLEC_ENST00000354958.2_Missense_Mutation_p.E2465D|PLEC_ENST00000354589.3_Missense_Mutation_p.E2487D|PLEC_ENST00000436759.2_Missense_Mutation_p.E2514D|PLEC_ENST00000398774.2_Missense_Mutation_p.E2455D|PLEC_ENST00000527096.1_Missense_Mutation_p.E2510D|PLEC_ENST00000345136.3_Missense_Mutation_p.E2487D|PLEC_ENST00000357649.2_Missense_Mutation_p.E2491D|PLEC_ENST00000356346.3_Missense_Mutation_p.E2473D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2624	Central fibrous rod domain.				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						GGGCCTGCGTCTCCTGCAGCA	0.612000													16	44					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23724593	23724593	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:23724593C>T	ENST00000256797.4	-	1	228	c.60G>A	c.(58-60)gcG>gcA	p.A20A		NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	0					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GAGAAGGCTCCGCCCCTGGCT	0.711000													14	4					0	0	1	0	0
PI4KAP2	375133	broad.mit.edu	37	22	21828978	21828978	+	RNA	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr22:21828978G>C	ENST00000450651.1	-	0	1839																				endometrium(3)|urinary_tract(1)	4						GCCTGGAGGAGAGGCTGTGTC	0.612000													7	10					0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9793501	9793501	+	Silent	SNP	T	T	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:9793501T>A	ENST00000377298.4	-	16	3177	c.2385A>T	c.(2383-2385)tcA>tcT	p.S795S	CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000377288.3_Silent_p.S776S|CLSTN1_ENST00000361311.4_Silent_p.S785S	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	795					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CATTCAGCTCTGAGCAGATGA	0.552000													9	63					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769599	57769599	+	Silent	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr20:57769599C>G	ENST00000371030.2	+	1	3525	c.3525C>G	c.(3523-3525)ccC>ccG	p.P1175P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1175						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACCCCTTTCCCTCACTGAAGG	0.662000													108	79					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509310	106509310	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:106509310G>A	ENST00000359195.3	+	2	1614	c.1304G>A	c.(1303-1305)tGc>tAc	p.C435Y	PIK3CG_ENST00000440650.2_Missense_Mutation_p.C435Y|PIK3CG_ENST00000496166.1_Missense_Mutation_p.C435Y	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	435					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						CAGATCTACTGCGGTAAAGCT	0.507000													19	95					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139272848	139272848	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:139272848G>A	ENST00000298532.2	-	21	3799	c.3431C>T	c.(3430-3432)cCg>cTg	p.P1144L		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	1144	Pro-rich.				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)		GGAAGGCTCCGGTTCCCTGTT	0.652000													8	18					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76789938	76789938	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr10:76789938G>A	ENST00000287239.4	+	18	5845	c.5356G>A	c.(5356-5358)Gag>Aag	p.E1786K	KAT6B_ENST00000372714.1_Missense_Mutation_p.E1494K|KAT6B_ENST00000372711.1_Missense_Mutation_p.E1603K|KAT6B_ENST00000372724.1_Missense_Mutation_p.E1494K|KAT6B_ENST00000372725.1_Missense_Mutation_p.E1494K	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1786	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TGAAATCCCCGAGACGAGCAA	0.597000													5	73					0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27552049	27552049	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:27552049C>T	ENST00000359541.2	-	14	2407	c.1978G>A	c.(1978-1980)Gaa>Aaa	p.E660K	GTF3C2_ENST00000264720.3_Missense_Mutation_p.E660K			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	660						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGCCAGTTCTGTACTCAAG	0.527000													23	407					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63410227	63410227	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chrX:63410227C>A	ENST00000330258.3	-	2	3212	c.2940G>T	c.(2938-2940)ttG>ttT	p.L980F	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									AAGGCCTGTCCAACTGGTTGG	0.567000													6	10					0.00116845	0.00119286	1	1	0
VPS18	57617	broad.mit.edu	37	15	41192561	41192561	+	Silent	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:41192561C>G	ENST00000220509.5	+	4	1884	c.1545C>G	c.(1543-1545)ctC>ctG	p.L515L	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	515					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCCTGACTCTCTACCGAGAAA	0.622000													15	247					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47597789	47597789	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:47597789C>G	ENST00000253048.5	-	3	275	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	80							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CGGCTTCTCTCAGGCCCTCCG	0.532000													21	487					0	0	1	0	0
CHN1	1123	broad.mit.edu	37	2	175809631	175809631	+	Silent	SNP	A	A	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:175809631A>G	ENST00000409900.3	-	3	412	c.99T>C	c.(97-99)atT>atC	p.I33I	CHN1_ENST00000409156.3_Silent_p.I33I|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	33					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			AAGTACAGGTAATTCTTCGAG	0.398000			T	TAF15	extraskeletal myxoid chondrosarcoma								4	3					0	0	1	0	0
TRMT2A	27037	broad.mit.edu	37	22	20102494	20102494	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr22:20102494G>A	ENST00000252136.7	-	5	1387	c.999C>T	c.(997-999)caC>caT	p.H333H	TRMT2A_ENST00000439169.2_Silent_p.H333H|TRMT2A_ENST00000403707.3_Silent_p.H333H|TRMT2A_ENST00000492988.1_5'UTR|TRMT2A_ENST00000404751.3_Silent_p.H333H	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	333					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						AGACCTGGGGGTGGAAGTAGG	0.627000													5	5					0	0	1	0	0
CCT6P1	643253	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167																											AGGTTCTTGCGCAGAATTCTG	0.383000													3	38					0.115264	0.116113	1	1	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74801750	74801750	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:74801750G>C	ENST00000370895.1	+	9	937	c.902G>C	c.(901-903)gGa>gCa	p.G301A	FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.G314A|TNNI3K_ENST00000326637.3_Missense_Mutation_p.G200A|TNNI3K_ENST00000370891.2_Missense_Mutation_p.G301A|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.G301A			Q59H18	TNI3K_HUMAN		200						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										GGTGAAGTTGGAGATAGACCC	0.343000													12	42					0	0	1	0	0
ZNF283	284349	broad.mit.edu	37	19	44352541	44352541	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:44352541G>A	ENST00000324461.7	+	7	2085	c.1788G>A	c.(1786-1788)gaG>gaA	p.E596E	ZNF283_ENST00000588797.1_Silent_p.E457E	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				ATACTAATGAGAAGTCTTATG	0.408000													9	107					0	0	1	0	0
LRRC58	116064	broad.mit.edu	37	3	120067674	120067674	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:120067674G>A	ENST00000295628.3	-	1	512	c.417C>T	c.(415-417)ctC>ctT	p.L139L		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	139										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		GCAGCTCTAAGAGCGAGGCAG	0.667000													11	16					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132440854	132440854	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:132440854C>G	ENST00000326682.8	-	1	422	c.346G>C	c.(346-348)Gag>Cag	p.E116Q	NPHP3_ENST00000343113.4_Missense_Mutation_p.E116Q|NPHP3_ENST00000337331.5_Missense_Mutation_p.E116Q|NPHP3_ENST00000383282.2_Missense_Mutation_p.E116Q|NPHP3-AS1_ENST00000489343.1_RNA			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	116					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	p.E116K(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCTTGGCCTCGCGGCGGCCC	0.667000													14	80					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102916061	102916061	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr14:102916061C>T	ENST00000359520.7	+	14	3397	c.3171C>T	c.(3169-3171)ccC>ccT	p.P1057P	TECPR2_ENST00000558678.1_Silent_p.P1057P	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1057							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						CCCAAGCCCCCGTAGAAAAGG	0.552000													38	51					0	0	1	0	0
C18orf25	147339	broad.mit.edu	37	18	43796350	43796350	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr18:43796350C>T	ENST00000282059.6	+	2	878	c.504C>T	c.(502-504)gtC>gtT	p.V168V	C18orf25_ENST00000321319.6_Silent_p.V168V	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	168										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						ATGGCCGAGTCGCCAAGGTTA	0.517000													11	95					0	0	1	0	0
C17orf80	55028	broad.mit.edu	37	17	71231891	71231891	+	Silent	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:71231891G>C	ENST00000359042.2	+	3	464	c.270G>C	c.(268-270)gtG>gtC	p.V90V	C17orf80_ENST00000255557.4_Silent_p.V90V|C17orf80_ENST00000268942.8_Silent_p.V90V|C17orf80_ENST00000535032.2_Silent_p.V90V|C17orf80_ENST00000426147.2_Silent_p.V90V|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000577615.1_Silent_p.V90V|C17orf80_ENST00000582793.1_Intron	NM_017941.4	NP_060411	Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	90						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			AACAGACAGTGAAGACCTTTC	0.388000													5	75					0	0	1	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454778	114454778	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:114454778G>C	ENST00000369563.3	+	4	2010	c.1564G>C	c.(1564-1566)Gac>Cac	p.D522H	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	522					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		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)		CAGGAGATTTGACCAGCAAGT	0.453000								Other identified genes with known or suspected DNA repair function					65	58					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39923703	39923703	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:39923703C>G	ENST00000393931.3	-	5	955	c.837G>C	c.(835-837)aaG>aaC	p.K279N	JUP_ENST00000310706.5_Missense_Mutation_p.K279N|JUP_ENST00000540235.1_Missense_Mutation_p.K279N|JUP_ENST00000393930.1_Missense_Mutation_p.K279N	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	279					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)		TGGGGTTGTTCTTGTTGAGCA	0.647000													16	149					0	0	1	0	0
CD5	921	broad.mit.edu	37	11	60893302	60893302	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:60893302G>A	ENST00000347785.3	+	10	1645	c.1479G>A	c.(1477-1479)caG>caA	p.Q493Q		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	493					cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		ATGGGGCTCAGAGGCTGTAAA	0.622000													10	36					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534040	92534040	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:92534040C>G	ENST00000298047.6	+	9	7878	c.7861C>G	c.(7861-7863)Caa>Gaa	p.Q2621E	FAT3_ENST00000409404.2_Missense_Mutation_p.Q2621E|FAT3_ENST00000525166.1_Missense_Mutation_p.Q2471E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2621	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTTGGTCACTCAAGTTCAAGC	0.478000										TCGA Ovarian(4;0.039)			5	15					0	0	1	0	0
METTL25	84190	broad.mit.edu	37	12	82752576	82752576	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:82752576C>T	ENST00000248306.3	+	1	301	c.232C>T	c.(232-234)Ccc>Tcc	p.P78S	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2			methyltransferase like 25																		AGAGACGCGCCCCCTAGTGGA	0.687000											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	48					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22181230	22181230	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:22181230C>G	ENST00000374695.3	-	49	6241	c.6162G>C	c.(6160-6162)aaG>aaC	p.K2054N	HSPG2_ENST00000430507.1_Missense_Mutation_p.K4N	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2054	Ig-like C2-type 6.				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)	AGGACTCAATCTTGACCGGCG	0.642000													11	25					0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80400391	80400391	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:80400391C>T	ENST00000337014.6	+	12	2155	c.1681C>T	c.(1681-1683)Cct>Tct	p.P561S	HEXDC_ENST00000327949.9_3'UTR|HEXDC_ENST00000577944.1_Silent_p.F533F	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	475					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			ACACTCAGTTCCTGAGGGCCC	0.622000													12	234					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55085838	55085838	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:55085838C>T	ENST00000251377.3	+	4	274	c.141C>T	c.(139-141)ctC>ctT	p.L47L	LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Silent_p.L47L|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391737.1_Silent_p.L35L|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.L47L					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)		CTGTGACCCTCAGGTGTCAGG	0.552000													77	97					0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6972521	6972521	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:6972521C>G	ENST00000229268.8	+	15	1986	c.1934C>G	c.(1933-1935)cCt>cGt	p.P645R	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Intron	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	645					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TTCTGCTCCCCTCACTTCTCC	0.582000													17	112					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71252775	71252775	+	Silent	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:71252775C>G	ENST00000395275.2	-	7	1159	c.771G>C	c.(769-771)cgG>cgC	p.R257R	CALN1_ENST00000431984.1_Silent_p.R215R|CALN1_ENST00000329008.5_Silent_p.R215R|CALN1_ENST00000405452.2_Silent_p.R215R|CALN1_ENST00000395276.2_Silent_p.R215R|CALN1_ENST00000412588.1_Silent_p.R257R	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	215						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CCATGCCGCTCCGGAGTATCT	0.587000													7	66					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106845418	106845418	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chrX:106845418G>A	ENST00000276185.4	+	16	4248	c.4248G>A	c.(4246-4248)ctG>ctA	p.L1416L				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1416						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GCGAGTGTCTGGGAGCTCCCA	0.607000													5	61					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49167710	49167710	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:49167710G>C	ENST00000418109.1	-	10	1343	c.1179C>G	c.(1177-1179)ttC>ttG	p.F393L	LAMB2_ENST00000305544.4_Missense_Mutation_p.F393L	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	393	Laminin EGF-like 2.				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)		GGTCACGGTAGAAGAAGGGCC	0.602000													19	55					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58831613	58831613	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr14:58831613G>A	ENST00000355431.3	+	20	3179	c.2806G>A	c.(2806-2808)Gaa>Aaa	p.E936K	ARID4A_ENST00000395168.3_Missense_Mutation_p.E936K|ARID4A_ENST00000431317.2_Missense_Mutation_p.E936K|ARID4A_ENST00000348476.3_Missense_Mutation_p.E936K	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	936					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						TCCAGCTGAAGAAACTGTAAA	0.398000													30	44					0	0	1	0	0
SERPINE2	5270	broad.mit.edu	37	2	224849561	224849561	+	Silent	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:224849561C>A	ENST00000409840.3	-	6	1452	c.792G>T	c.(790-792)ccG>ccT	p.P264P	SERPINE2_ENST00000447280.2_Silent_p.P276P|SERPINE2_ENST00000258405.4_Silent_p.P264P|SERPINE2_ENST00000409304.1_Silent_p.P264P			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	264					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TGGCAGACAGCGGAGTGGAGC	0.537000													35	8					4.65686e-17	5.08022e-17	1	1	0
CEP192	55125	broad.mit.edu	37	18	13071109	13071109	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr18:13071109C>T	ENST00000506447.1	+	28	5326	c.5246C>T	c.(5245-5247)tCa>tTa	p.S1749L	CEP192_ENST00000430049.2_Missense_Mutation_p.S1274L|CEP192_ENST00000325971.8_Missense_Mutation_p.S1153L	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1344										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						GTCATTTCTTCAGGAAGTAAA	0.408000													61	56					0	0	1	0	0
FLOT1	10211	broad.mit.edu	37	6	30708549	30708549	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:30708549G>C	ENST00000376389.3	-	6	601	c.381C>G	c.(379-381)ttC>ttG	p.F127L	FLOT1_ENST00000470643.1_5'UTR|FLOT1_ENST00000456573.2_Missense_Mutation_p.F79L	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1	127						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						CCTGTTCTGAGAATTTCTGCC	0.428000													23	109					0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117561065	117561065	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:117561065G>C	ENST00000256652.4	+	6	1958	c.1900G>C	c.(1900-1902)Gag>Cag	p.E634Q	CD101_ENST00000369470.1_Missense_Mutation_p.E634Q	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	634	Ig-like C2-type 5.				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						CACTGAGGAAGAGACAGGAGT	0.468000													31	115					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40583371	40583371	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:40583371C>G	ENST00000260402.3	-	27	3133	c.2884G>C	c.(2884-2886)Gag>Cag	p.E962Q	PLCB2_ENST00000456256.2_Missense_Mutation_p.E947Q|PLCB2_ENST00000557821.1_Missense_Mutation_p.E958Q	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	962					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GCGCTCTCCTCGCGGGGCAGG	0.746000													4	8					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18235467	18235467	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:18235467G>T	ENST00000262811.6	+	10	874	c.874G>T	c.(874-876)Gaa>Taa	p.E292*	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3								ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TGACCCTGAGGAATTTTACCA	0.622000													6	14					0.00116845	0.00119286	1	1	0
ZNF223	7766	broad.mit.edu	37	19	44564956	44564956	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:44564956G>C	ENST00000591793.1	+	6	610	c.527G>C	c.(526-528)tGg>tCg	p.W176S	ZNF223_ENST00000585552.1_Missense_Mutation_p.W66S|ZNF223_ENST00000434772.3_Missense_Mutation_p.W66S			Q9UK11	ZN223_HUMAN	zinc finger protein 223	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				GAAAAGTTTTGGATGATGGAT	0.423000													33	272					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627003	140627003	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:140627003G>A	ENST00000231173.3	+	1	1857	c.1857G>A	c.(1855-1857)gcG>gcA	p.A619A		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		619	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGTGTGGGCGCACAATGGCG	0.687000													20	74					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89456492	89456492	+	Silent	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:89456492C>G	ENST00000336596.2	+	8	1893	c.1668C>G	c.(1666-1668)ctC>ctG	p.L556L	EPHA3_ENST00000494014.1_Silent_p.L556L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	556						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)		TTATTCTCCTCACTGTTGTCA	0.408000										TSP Lung(6;0.00050)			7	51					0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38323111	38323111	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:38323111G>C	ENST00000373036.4	-	2	360	c.220C>G	c.(220-222)Cta>Gta	p.L74V	MTF1_ENST00000468190.1_5'UTR	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	74						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCCCTACTAGAAAAGGCAAG	0.463000													8	100					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508910	106508910	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:106508910G>C	ENST00000359195.3	+	2	1214	c.904G>C	c.(904-906)Gag>Cag	p.E302Q	PIK3CG_ENST00000440650.2_Missense_Mutation_p.E302Q|PIK3CG_ENST00000496166.1_Missense_Mutation_p.E302Q	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	302					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						GAACGGAGAAGAGATTCACGT	0.592000													13	63					0	0	1	0	0
B3GNT4	79369	broad.mit.edu	37	12	122691073	122691073	+	Missense_Mutation	SNP	G	G	A	rs140214004	byFrequency	TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:122691073G>A	ENST00000535274.1	+	1	1927	c.200G>A	c.(199-201)cGt>cAt	p.R67H	B3GNT4_ENST00000546192.1_Missense_Mutation_p.R67H|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000324189.4_Missense_Mutation_p.R92H			Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	92					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CTGCCTAGCCGTCACCGTCTC	0.587000													354	57					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38424443	38424443	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:38424443C>T	ENST00000356264.2	-	21	2279	c.2064G>A	c.(2062-2064)gaG>gaA	p.E688E	AMPH_ENST00000325590.5_Silent_p.E646E|AMPH_ENST00000428293.2_Silent_p.E646E	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	688	SH3.				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						GGGTGAAGTTCTCTGGAAAGA	0.473000													40	131					0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42659089	42659089	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:42659089C>G	ENST00000232978.8	+	3	274	c.86C>G	c.(85-87)tCa>tGa	p.S29*	RP4-613B23.1_ENST00000438017.1_RNA|NKTR_ENST00000442970.1_Nonsense_Mutation_p.S29*|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	29	PPIase cyclophilin-type.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CAGCTCTTCTCAGACATATGT	0.333000													7	54					0	0	1	0	0
ZNF320	162967	broad.mit.edu	37	19	53384083	53384083	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:53384083C>T	ENST00000595635.1	-	8	1797	c.1296G>A	c.(1294-1296)agG>agA	p.R432R	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Silent_p.R432R	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TATGAATCCTCCTATGTCTTT	0.398000													38	48					0	0	1	0	0
UTP18	51096	broad.mit.edu	37	17	49371351	49371351	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:49371351C>G	ENST00000225298.7	+	12	1648	c.1591C>G	c.(1591-1593)Ccg>Gcg	p.P531A		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	531					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			GGATTTTTCTCCGAGAAGTGG	0.363000													33	4					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98242303	98242303	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:98242303C>G	ENST00000430669.2	-	7	1402	c.817G>C	c.(817-819)Gag>Cag	p.E273Q	PTCH1_ENST00000421141.1_Missense_Mutation_p.E188Q|PTCH1_ENST00000375274.2_Missense_Mutation_p.E338Q|PTCH1_ENST00000437951.1_Missense_Mutation_p.E273Q|PTCH1_ENST00000429896.2_Missense_Mutation_p.E188Q|PTCH1_ENST00000331920.6_Missense_Mutation_p.E339Q|PTCH1_ENST00000418258.1_Missense_Mutation_p.E188Q			Q13635	PTC1_HUMAN	patched 1	339					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ATCAACTCCTCCTGCCAGTGC	0.453000													51	136					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75265106	75265106	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr14:75265106C>A	ENST00000325680.7	+	5	3230	c.3106C>A	c.(3106-3108)Cta>Ata	p.L1036I	YLPM1_ENST00000238571.3_Missense_Mutation_p.L841I|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	841	Arg-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)		GGATAAAGGTCTAGTAAACAG	0.473000													11	97					3.07112e-06	3.19733e-06	1	1	0
RLBP1	6017	broad.mit.edu	37	15	89758410	89758410	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:89758410C>G	ENST00000268125.5	-	6	845	c.406G>C	c.(406-408)Gtc>Ctc	p.V136L		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	136	CRAL-TRIO.				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	GTGCAGCGGACAGCCTCTGGG	0.562000													37	121					0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51465368	51465368	+	Missense_Mutation	SNP	A	A	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr10:51465368A>C	ENST00000374095.5	-	7	1213	c.1088T>G	c.(1087-1089)aTc>aGc	p.I363S		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	363	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GAGCTTGGGGATGGTGGTGCT	0.517000													5	227					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113562700	113562700	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:113562700G>A	ENST00000416899.2	+	13	2144	c.2018G>A	c.(2017-2019)aGt>aAt	p.S673N	MUSK_ENST00000189978.5_Missense_Mutation_p.S681N|MUSK_ENST00000374448.4_Missense_Mutation_p.S681N			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	681	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CTCAGTCACAGTGACTTGTCT	0.592000													95	67					0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19381074	19381074	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:19381074G>T	ENST00000389363.4	-	4	381	c.309C>A	c.(307-309)taC>taA	p.Y103*	AC138430.4_ENST00000586064.2_RNA|TM6SF2_ENST00000586107.1_5'UTR	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	103						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			CTGTGCGCAGGTATGGCTCTC	0.622000													25	56					3.6726e-16	3.99374e-16	1	1	0
SPRED3	399473	broad.mit.edu	37	19	38882731	38882731	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:38882731C>T	ENST00000587013.1	+	2	533	c.455C>T	c.(454-456)gCt>gTt	p.A152V	SPRED3_ENST00000338502.4_Missense_Mutation_p.A108V|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000586301.1_Missense_Mutation_p.A108V			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	108	Ser-rich.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGCCTGCTGGCTGCGCTGGCC	0.607000													15	200					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160105237	160105237	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:160105237C>G	ENST00000361216.3	+	16	2218	c.2129C>G	c.(2128-2130)gCc>gGc	p.A710G	ATP1A2_ENST00000392233.3_Missense_Mutation_p.A710G	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	710					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCATTGTGGCCGTGACGGGT	0.602000													29	56					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25255134	25255134	+	Silent	SNP	T	T	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:25255134T>A	ENST00000328086.7	-	6	2756	c.1953A>T	c.(1951-1953)ggA>ggT	p.G651G		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	651					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GACCTGGAGGTCCCTGGAACT	0.463000													35	167					0	0	1	0	0
SCAMP5	192683	broad.mit.edu	37	15	75309051	75309051	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:75309051C>G	ENST00000361900.6	+	5	461	c.254C>G	c.(253-255)tCc>tGc	p.S85C	SCAMP5_ENST00000425597.3_Missense_Mutation_p.S85C|SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000562212.1_Missense_Mutation_p.S85C|SCAMP5_ENST00000545456.1_Intron	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	85					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ACACCCTGCTCCTACGTCTGC	0.597000													13	142					0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121305253	121305253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:121305253C>T	ENST00000334384.3	+	4	764	c.754C>T	c.(754-756)Cag>Tag	p.Q252*		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	252						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)		CTGTCTGTATCAGTATCTCTC	0.463000													36	126					0	0	1	0	0
CXorf38	159013	broad.mit.edu	37	X	40506716	40506716	+	Silent	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chrX:40506716C>A	ENST00000327877.5	-	1	83	c.57G>T	c.(55-57)gtG>gtT	p.V19V	CXorf38_ENST00000378426.1_5'UTR|CXorf38_ENST00000378418.2_Silent_p.V19V|CXorf38_ENST00000440784.2_Silent_p.V19V|CXorf38_ENST00000378421.1_5'UTR	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	19										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						GGCCCGCCTTCACCCAGTTCT	0.687000													5	16					3.59834e-05	3.72354e-05	1	1	0
PLCG1	5335	broad.mit.edu	37	20	39802893	39802893	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr20:39802893G>A	ENST00000373272.2	+	31	4180	c.3775G>A	c.(3775-3777)Gag>Aag	p.E1259K	PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000244007.3_Missense_Mutation_p.E1259K|PLCG1_ENST00000373271.1_Missense_Mutation_p.E1258K	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1258					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GCAGCCGTTTGAGGACTTCCG	0.607000													7	192					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10207138	10207138	+	Missense_Mutation	SNP	G	G	A	rs147329205		TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:10207138G>A	ENST00000377157.3	+	18	2907	c.1846G>A	c.(1846-1848)Gca>Aca	p.A616T	UBE4B_ENST00000343090.6_Missense_Mutation_p.A861T|UBE4B_ENST00000253251.8_Missense_Mutation_p.A732T	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	861					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.A732T(1)|p.A861T(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CCTGGACCCCGCATATCCCGA	0.493000													4	240					0	0	1	0	0
RNGTT	8732	broad.mit.edu	37	6	89479548	89479548	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:89479548G>A	ENST00000369485.4	-	13	1570	c.1384C>T	c.(1384-1386)Ccc>Tcc	p.P462S	RNGTT_ENST00000369475.3_Missense_Mutation_p.P462S|RNGTT_ENST00000265607.6_Missense_Mutation_p.P439S|RNGTT_ENST00000538899.1_Missense_Mutation_p.P379S	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	462	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TTCAGACTGGGAGGCTTCCAT	0.323000													5	28					0	0	1	0	0
UTP18	51096	broad.mit.edu	37	17	49365435	49365435	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:49365435C>T	ENST00000225298.7	+	11	1431	c.1374C>T	c.(1372-1374)ctC>ctT	p.L458L		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	458					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			ATTCTTGTCTCCAAGAAACAA	0.333000													29	5					0	0	1	0	0
EDEM2	55741	broad.mit.edu	37	20	33711796	33711796	+	Silent	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr20:33711796G>C	ENST00000540582.1	-	13	1609	c.888C>G	c.(886-888)ctC>ctG	p.L296L	EDEM2_ENST00000374492.3_Silent_p.L337L|EDEM2_ENST00000541621.1_Silent_p.L116L|EDEM2_ENST00000374491.3_Silent_p.L300L|EDEM2_ENST00000542871.1_Silent_p.L61L			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	337					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGTAGTAGTTGAGGAAGGTCC	0.527000													9	129					0	0	1	0	0
FAM3C	10447	broad.mit.edu	37	7	121019054	121019054	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:121019054C>T	ENST00000359943.3	-	3	241	c.28G>A	c.(28-30)Gtg>Atg	p.V10M		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	10					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					ACAGCTACCACCAACTTTGCA	0.299000													31	71					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49739787	49739787	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:49739787C>T	ENST00000327697.6	+	19	1722	c.1578C>T	c.(1576-1578)atC>atT	p.I526I	RNF123_ENST00000432042.1_Silent_p.I380I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	526						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTAGGTATATCTTCCTGACCA	0.587000													13	414					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49169079	49169079	+	Silent	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:49169079G>C	ENST00000418109.1	-	6	701	c.537C>G	c.(535-537)tcC>tcG	p.S179S	LAMB2_ENST00000305544.4_Silent_p.S179S	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	179	Laminin N-terminal.				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)		CACAGTCATAGGAGAAATATC	0.572000													51	159					0	0	1	0	0
KRTAP8-1	337879	broad.mit.edu	37	21	32185383	32185383	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr21:32185383G>A	ENST00000329621.4	-	1	187	c.156C>T	c.(154-156)ttC>ttT	p.F52F		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	52	12 X 2 AA repeats of G-[YCGS].					intermediate filament				central_nervous_system(1)|large_intestine(1)|lung(4)	6						TCCTGTAGCCGAAAGCCCCAC	0.562000													68	109					0	0	1	0	0
RBM42	79171	broad.mit.edu	37	19	36124047	36124047	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:36124047G>A	ENST00000262633.4	+	6	682	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	RBM42_ENST00000592202.1_Missense_Mutation_p.V139M|RBM42_ENST00000589871.1_Missense_Mutation_p.V171M|RBM42_ENST00000588161.1_Missense_Mutation_p.V163M|RBM42_ENST00000360475.4_Missense_Mutation_p.V164M|RBM42_ENST00000589559.1_Missense_Mutation_p.V164M|RBM42_ENST00000586618.1_Intron	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	193	Pro-rich.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCAGGCCCTCGTGGGCCCCCC	0.711000													122	165					0	0	1	0	0
HOXA6	3203	broad.mit.edu	37	7	27185431	27185431	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:27185431C>T	ENST00000222728.3	-	2	572	c.548G>A	c.(547-549)cGc>cAc	p.R183H	HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA6_ENST00000521478.1_5'UTR	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	183						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R183H(1)		central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						GATGCGGCGGCGCCGTGTCAG	0.607000													31	292					0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21599205	21599205	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:21599205G>C	ENST00000415912.2	-	4	557	c.432C>G	c.(430-432)atC>atG	p.I144M	ECE1_ENST00000436918.2_Missense_Mutation_p.I160M|ECE1_ENST00000374893.6_Missense_Mutation_p.I160M|ECE1_ENST00000357071.4_Missense_Mutation_p.I148M|ECE1_ENST00000264205.6_Missense_Mutation_p.I157M	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	160					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GGAGGTGCTTGATGATTGCTT	0.602000													3	66					0	0	1	0	0
LMF1	64788	broad.mit.edu	37	16	920734	920734	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:920734G>A	ENST00000262301.11	-	8	1245	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	LMF1_ENST00000399843.2_Silent_p.F409F|LMF1_ENST00000543238.1_Silent_p.F172F|LMF1_ENST00000568897.1_Silent_p.F192F	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	409						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				CATACCTTCCGAAGGCCCCGT	0.612000													26	42					0	0	1	0	0
CKMT2	1160	broad.mit.edu	37	5	80548634	80548634	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:80548634C>G	ENST00000424301.2	+	4	511	c.273C>G	c.(271-273)atC>atG	p.I91M	CKMT2_ENST00000437669.1_Missense_Mutation_p.I91M|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.I91M|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000500148.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	91	Phosphagen kinase N-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	ACCAGTGCATCCAGACTGGAG	0.562000													25	70					0	0	1	0	0
COA5	493753	broad.mit.edu	37	2	99220588	99220588	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:99220588C>A	ENST00000328709.3	-	2	252	c.166G>T	c.(166-168)Gag>Tag	p.E56*	COA5_ENST00000483527.1_5'UTR|COA5_ENST00000409997.1_Nonsense_Mutation_p.E56*	NM_001008215.2	NP_001008216.1	Q86WW8	COA5_HUMAN	cytochrome c oxidase assembly factor 5	56																	CTTTTACACTCAAAAAATGCG	0.328000													14	79					0.00244969	0.00248973	1	1	0
C1orf101	257044	broad.mit.edu	37	1	244724185	244724185	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:244724185C>T	ENST00000366534.4	+	10	1299	c.1245C>T	c.(1243-1245)gtC>gtT	p.V415V	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Silent_p.V264V|C1orf101_ENST00000366533.4_Silent_p.V415V	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	415						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TATGTAACGTCACCAAAAAGA	0.398000													9	85					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76790569	76790569	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr10:76790569G>A	ENST00000287239.4	+	18	6476	c.5987G>A	c.(5986-5988)aGc>aAc	p.S1996N	KAT6B_ENST00000372714.1_Missense_Mutation_p.S1704N|KAT6B_ENST00000372711.1_Missense_Mutation_p.S1813N|KAT6B_ENST00000372724.1_Missense_Mutation_p.S1704N|KAT6B_ENST00000372725.1_Missense_Mutation_p.S1704N	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1996	Interaction with RUNX1 and RUNX2.|Met-rich.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										AATGGGTACAGCATGTCCCAG	0.493000													117	122					0	0	1	0	0
ZNF510	22869	broad.mit.edu	37	9	99522664	99522664	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:99522664T>C	ENST00000375231.1	-	6	1098	c.448A>G	c.(448-450)Aca>Gca	p.T150A	ZNF510_ENST00000223428.4_Missense_Mutation_p.T150A			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCTTCCTCTGTAGTCAATGTT	0.368000													50	38					0	0	1	0	0
FAM132A	388581	broad.mit.edu	37	1	1179864	1179864	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:1179864G>C	ENST00000330388.2	-	2	222	c.191C>G	c.(190-192)tCa>tGa	p.S64*		NM_001014980.2	NP_001014980.1	Q5T7M4	F132A_HUMAN	family with sequence similarity 132, member A	64						extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2	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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCAGGTCCTGAGGCCTGGGA	0.662000													24	73					0	0	1	0	0
HGSNAT	138050	broad.mit.edu	37	8	43052998	43052998	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr8:43052998C>T	ENST00000458501.2	+	17	1713	c.1713C>T	c.(1711-1713)gtC>gtT	p.V571V	HGSNAT_ENST00000521576.1_Silent_p.V260V|HGSNAT_ENST00000297798.7_Silent_p.V275V|HGSNAT_ENST00000379644.4_Silent_p.V543V			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	571					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TTTCGTATGTCACTACGCTCA	0.483000													12	15					0	0	1	0	0
FAM169A	26049	broad.mit.edu	37	5	74096853	74096853	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:74096853G>T	ENST00000389156.4	-	10	1045	c.955C>A	c.(955-957)Cat>Aat	p.H319N	FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Missense_Mutation_p.H259N	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	319										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GTTTTATCATGACCTGAGGAG	0.358000													14	91					1.5739e-10	1.67686e-10	1	1	0
BBS10	79738	broad.mit.edu	37	12	76741119	76741119	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:76741119C>T	ENST00000393262.3	-	2	729	c.646G>A	c.(646-648)Gac>Aac	p.D216N		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	216					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						ACAAAATGGTCATCCACTAAC	0.378000									Bardet-Biedl syndrome				34	7					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388687	48388687	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr10:48388687C>T	ENST00000224600.4	-	1	2304	c.2191G>A	c.(2191-2193)Gag>Aag	p.E731K		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	731	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)	AACAGGGCCTCAATAAGGTAG	0.627000													4	72					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012239	29012239	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:29012239C>T	ENST00000377175.1	-	1	778	c.714G>A	c.(712-714)atG>atA	p.M238I		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CACAGGTATTCATTGCTTTTC	0.428000													54	97					0	0	1	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45567974	45567974	+	RNA	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:45567974C>G	ENST00000256692.5	-	0	711					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTGAAGGCTGCATTTGCAATC	0.453000													123	100					0	0	1	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179851902	179851902	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:179851902G>C	ENST00000606911.2	+	1	456	c.265G>C	c.(265-267)Gag>Cag	p.E89Q	TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.E89Q|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.E89Q|TOR1AIP1_ENST00000435319.4_5'UTR			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1							integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CCGGCTAGAAGAGTTCCGGTC	0.597000													7	87					0	0	1	0	0
MTPN	136319	broad.mit.edu	37	7	135635365	135635365	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:135635365C>T	ENST00000393085.3	-	3	467	c.252G>A	c.(250-252)gtG>gtA	p.V84V	MTPN_ENST00000435723.1_Intron	NM_001128619.2|NM_145808.3	NP_001122091.2|NP_665807.1	P58546	MTPN_HUMAN	myotrophin	84					cell growth|regulation of striated muscle tissue development|regulation of translation	cytoplasm	protein binding			endometrium(1)|lung(4)|prostate(1)	6						GAAGCAATTTCACACAGGAAA	0.323000													23	210					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205904902	205904902	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:205904902G>C	ENST00000367135.3	-	2	160	c.47C>G	c.(46-48)tCc>tGc	p.S16C	SLC26A9_ENST00000340781.4_Missense_Mutation_p.S16C|SLC26A9_ENST00000367134.2_Missense_Mutation_p.S16C	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	16						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GAGGGTAAGGGAGTATGCGGC	0.562000													69	31					0	0	1	0	0
SLC22A4	6583	broad.mit.edu	37	5	131670480	131670480	+	Silent	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:131670480G>C	ENST00000200652.3	+	7	1290	c.1116G>C	c.(1114-1116)ctG>ctC	p.L372L	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	372					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	ATGCCTACCTGAACTGTTTCC	0.458000													300	141					0	0	1	0	0
CHAD	1101	broad.mit.edu	37	17	48542780	48542780	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:48542780G>A	ENST00000508540.1	-	3	1111	c.959C>T	c.(958-960)tCc>tTc	p.S320F	ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.S320F|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	320	LRRCT.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			ATCTGGGCGGGAGGCCTTGGC	0.632000													4	65					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32181995	32181995	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:32181995C>T	ENST00000375023.3	-	13	2197	c.2059G>A	c.(2059-2061)Gag>Aag	p.E687K	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	687	EGF-like 17.				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						GCCTCACACTCTGGCCCCGTC	0.592000													23	128					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44894209	44894209	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:44894209G>C	ENST00000326047.4	+	35	4298	c.4149G>C	c.(4147-4149)aaG>aaC	p.K1383N	KIF15_ENST00000425755.1_Missense_Mutation_p.K1018N	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1383					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TAAAAGAAAAGAAAAGAAGTG	0.343000													32	39					0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784361	30784361	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr20:30784361C>G	ENST00000246229.4	-	3	1649	c.1385G>C	c.(1384-1386)gGa>gCa	p.G462A		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	462						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)			TCCCCCAGCTCCTGGGGAATC	0.602000													12	92					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214557384	214557384	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:214557384G>A	ENST00000366956.5	-	13	2008	c.1814C>T	c.(1813-1815)tCg>tTg	p.S605L	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	605					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGTCTTCACCGAGAGCTGCAC	0.657000													12	57					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37564852	37564852	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:37564852G>C	ENST00000300651.6	-	17	3845	c.3622C>G	c.(3622-3624)Cca>Gca	p.P1208A	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1208	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGCTTCATTGGAGAGGCAAGC	0.463000										HNSCC(31;0.082)			5	90					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799271	212799271	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:212799271C>T	ENST00000294829.3	+	1	1483	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	351	Ala-rich.									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)		GCAGGCAAGTCCTCAGAGCAT	0.587000													6	69					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51745781	51745781	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:51745781G>C	ENST00000251076.5	-	40	8883	c.8596C>G	c.(8596-8598)Cta>Gta	p.L2866V	DMXL2_ENST00000449909.3_Missense_Mutation_p.L2230V|DMXL2_ENST00000543779.2_Missense_Mutation_p.L2867V|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2866						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)		GTGGCAACTAGACTTGAAGAG	0.368000													32	64					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77471437	77471437	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:77471437C>G	ENST00000560626.2	-	4	3307	c.2832G>C	c.(2830-2832)gaG>gaC	p.E944D	PEAK1_ENST00000558305.1_Missense_Mutation_p.E944D|PEAK1_ENST00000312493.4_Missense_Mutation_p.E944D			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	944					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										CTCGCTCTTTCTCTTTGTCAT	0.532000													16	89					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43164002	43164002	+	Splice_Site	SNP	G	G	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:43164002G>T	ENST00000252050.4	+	10	2668	c.2584G>T	c.(2584-2586)Ggg>Tgg	p.G862W	CUL9_ENST00000354495.3_Splice_Site_p.G752W|CUL9_ENST00000372647.2_Splice_Site_p.G862W	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	862					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GAATACTGAGGGGTCAGGGCA	0.582000													11	54					0.000978159	0.00100159	1	1	0
QRICH1	54870	broad.mit.edu	37	3	49114440	49114440	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr3:49114440G>A	ENST00000395443.2	-	2	483	c.11C>T	c.(10-12)tCc>tTc	p.S4F	QRICH1_ENST00000424300.1_Missense_Mutation_p.S4F|QRICH1_ENST00000357496.2_Missense_Mutation_p.S4F	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	4	CARD.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GTTCTCTAGGGAATTATTCAT	0.423000													22	165					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20477013	20477013	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:20477013G>C	ENST00000573854.1	+	3	466	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.E118Q|ACSM2A_ENST00000575690.1_Missense_Mutation_p.E118Q|ACSM2A_ENST00000219054.6_Missense_Mutation_p.E118Q|ACSM2A_ENST00000417235.2_Missense_Mutation_p.E39Q|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.E118Q	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	118					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						CCGAGTGCCTGAGTGGTGGCT	0.567000													14	57					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20784959	20784959	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:20784959G>C	ENST00000404938.2	+	26	3979	c.3327G>C	c.(3325-3327)gaG>gaC	p.E1109D	ABCB5_ENST00000258738.6_Missense_Mutation_p.E664D	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	664					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	p.E664E(1)|p.E1109E(1)		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						GCATTGCTGAGAACATCGCCT	0.458000													22	107					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56491634	56491634	+	Silent	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:56491634C>G	ENST00000267101.3	+	21	2966	c.2526C>G	c.(2524-2526)ctC>ctG	p.L842L	ERBB3_ENST00000415288.2_Silent_p.L783L|ERBB3_ENST00000553131.1_Silent_p.L83L|ERBB3_ENST00000450146.2_Silent_p.L199L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	842	Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACGTGCTACTCAAGTCACCCA	0.498000													9	164					0	0	1	0	0
CDKAL1	54901	broad.mit.edu	37	6	20546671	20546671	+	Silent	SNP	A	A	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:20546671A>G	ENST00000274695.4	+	3	257	c.90A>G	c.(88-90)gtA>gtG	p.V30V	CDKAL1_ENST00000378624.4_5'UTR|CDKAL1_ENST00000378610.1_Silent_p.V30V	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	30					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GGCATTTTGTAAGAAAGGATG	0.413000													8	364					0	0	1	0	0
PIPOX	51268	broad.mit.edu	37	17	27382167	27382167	+	Silent	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:27382167G>C	ENST00000323372.4	+	6	1220	c.894G>C	c.(892-894)ctG>ctC	p.L298L	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	298					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TCCAGATCCTGAGCAGCTTTG	0.592000													15	272					0	0	1	0	0
TUBG2	27175	broad.mit.edu	37	17	40818466	40818466	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:40818466C>T	ENST00000251412.7	+	10	1321	c.1122C>T	c.(1120-1122)agC>agT	p.S374S		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	374					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		ACCGGGTCAGCGGGCTCATGA	0.597000													25	172					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97851035	97851035	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:97851035G>A	ENST00000447648.2	-	23	3394	c.3095C>T	c.(3094-3096)cCg>cTg	p.P1032L	TECPR1_ENST00000379795.3_Missense_Mutation_p.P1034L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1032						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCTCTGTCTCGGTGGGGACGG	0.577000													20	64					0	0	1	0	0
MARCH7	64844	broad.mit.edu	37	2	160605378	160605378	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:160605378C>G	ENST00000259050.4	+	5	1699	c.1577C>G	c.(1576-1578)tCa>tGa	p.S526*	MARCH7_ENST00000409591.1_Nonsense_Mutation_p.S488*|MARCH7_ENST00000539065.1_Nonsense_Mutation_p.S470*|MARCH7_ENST00000409175.1_Nonsense_Mutation_p.S526*	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase								ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						AGTGCGCCTTCAAGAGATCCA	0.343000													7	120					0	0	1	0	0
FANCC	2176	broad.mit.edu	37	9	97873900	97873900	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr9:97873900C>G	ENST00000289081.3	-	13	1428	c.1174G>C	c.(1174-1176)Gag>Cag	p.E392Q	FANCC_ENST00000375305.1_Missense_Mutation_p.E392Q	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	392					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				AACCAGCTCTCAAAGGGACCT	0.522000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	114					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97823399	97823399	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:97823399G>A	ENST00000297293.5	+	11	3915	c.3622G>A	c.(3622-3624)Gaa>Aaa	p.E1208K		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1208					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCTGAATGCAGAACTTAGCAG	0.597000													8	73					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67389503	67389503	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr14:67389503C>G	ENST00000478722.1	+	7	1698	c.577C>G	c.(577-579)Ctt>Gtt	p.L193V	GPHN_ENST00000543237.1_Missense_Mutation_p.L206V|GPHN_ENST00000305960.9_Missense_Mutation_p.L162V|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000459628.1_Missense_Mutation_p.L175V|GPHN_ENST00000315266.5_Missense_Mutation_p.L193V	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	193	Interaction with GABARAP (By similarity).				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ACCTCCCCCTCTTTCCCCTCC	0.478000			T	MLL	AL								62	80					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32474974	32474974	+	Silent	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:32474974G>A	ENST00000404025.2	-	5	2447	c.1959C>T	c.(1957-1959)ttC>ttT	p.F653F	NLRC4_ENST00000360906.5_Silent_p.F653F|NLRC4_ENST00000402280.1_Silent_p.F653F|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	653					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTTCCAGTTGAAGAACAAAG	0.473000													28	197					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70291507	70291507	+	Silent	SNP	T	T	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:70291507T>C	ENST00000310961.5	+	6	817	c.399T>C	c.(397-399)tcT>tcC	p.S133S	LRRC7_ENST00000370958.1_Silent_p.S166S|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Silent_p.S128S			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	128						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATCCCATTTCTAAGTGAGTAT	0.259000													10	38					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185891620	185891620	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:185891620G>A	ENST00000271588.4	+	7	1239	c.1010G>A	c.(1009-1011)aGa>aAa	p.R337K	HMCN1_ENST00000367492.2_Missense_Mutation_p.R337K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	337					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						ACAGTCAGCAGACCAGTGCAA	0.368000													5	24					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24046817	24046817	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:24046817G>A	ENST00000303531.7	+	5	630	c.478G>A	c.(478-480)Ggc>Agc	p.G160S	PRKCB_ENST00000321728.7_Missense_Mutation_p.G160S	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	160					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)	GGAGCGCCGCGGCCGCATCTA	0.617000													69	30					0	0	1	0	0
SLC15A4	121260	broad.mit.edu	37	12	129293415	129293415	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:129293415C>T	ENST00000266771.5	-	5	1215	c.1176G>A	c.(1174-1176)ttG>ttA	p.L392L	SLC15A4_ENST00000544112.1_Silent_p.L55L	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	392					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		CATGTCTTCTCAAAATGGGAT	0.552000													34	65					0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5138051	5138051	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:5138051C>T	ENST00000159111.4	+	18	2738	c.2520C>T	c.(2518-2520)atC>atT	p.I840I	KDM4B_ENST00000536461.1_Silent_p.I874I	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	840					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTGTGGACATCAGCGCCATCC	0.687000													3	22					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145115895	145115895	+	RNA	SNP	T	T	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:145115895T>C	ENST00000453618.1	+	0	981							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										TGTGAAATAATGAATACAGTC	0.398000													16	165					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848075	166848075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:166848075G>A	ENST00000423058.2	-	26	5727	c.5710C>T	c.(5710-5712)Cag>Tag	p.Q1904*	SCN1A_ENST00000375405.3_Nonsense_Mutation_p.Q1893*|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.Q1904*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.Q1876*	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1904						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTGATTGGCTGATAGGAGACC	0.428000													20	84					0	0	1	0	0
FKBP3	2287	broad.mit.edu	37	14	45587316	45587316	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr14:45587316G>C	ENST00000216330.3	-	7	945	c.535C>G	c.(535-537)Ctc>Gtc	p.L179V	FKBP3_ENST00000396062.3_Missense_Mutation_p.L179V			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	179	PPIase FKBP-type.				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						ATAGTCAAGAGAGCTTCATCC	0.398000													33	66					0	0	1	0	0
QTRT1	81890	broad.mit.edu	37	19	10823913	10823913	+	Silent	SNP	C	C	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:10823913C>T	ENST00000250237.5	+	10	1189	c.1179C>T	c.(1177-1179)gaC>gaT	p.D393D		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	393					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			GGGCCACTGACGCTCTGGCCT	0.622000													16	101					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158641148	158641148	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:158641148C>A	ENST00000368147.4	-	12	1764	c.1584G>T	c.(1582-1584)caG>caT	p.Q528H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						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)					TCTTCTCTTCCTGGGCAGTAA	0.473000													13	38					9.16793e-09	9.67726e-09	1	1	0
HEXDC	284004	broad.mit.edu	37	17	80393683	80393683	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:80393683G>A	ENST00000337014.6	+	6	1040	c.566G>A	c.(565-567)cGc>cAc	p.R189H	HEXDC_ENST00000327949.9_Missense_Mutation_p.R189H|HEXDC_ENST00000577944.1_Missense_Mutation_p.R189H	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	189					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AAGGCCCGGCGCCCCAGCGTG	0.706000													42	167					0	0	1	0	0
RAB39A	54734	broad.mit.edu	37	11	107832760	107832760	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:107832760G>C	ENST00000320578.2	+	2	382	c.316G>C	c.(316-318)Gat>Cat	p.D106H		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	106					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding										ACATGTGAAAGATTGGCTAGA	0.358000													3	53					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70961771	70961771	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:70961771G>A	ENST00000322954.6	-	16	1437	c.1252C>T	c.(1252-1254)Caa>Taa	p.Q418*	UACA_ENST00000560441.1_Nonsense_Mutation_p.Q403*|UACA_ENST00000379983.2_Nonsense_Mutation_p.Q405*|UACA_ENST00000539319.1_Nonsense_Mutation_p.Q309*	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	418						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GATCTGCTTTGCATATGGGCT	0.348000													16	49					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54801989	54801989	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr12:54801989A>T	ENST00000293379.4	-	7	983	c.722T>A	c.(721-723)aTt>aAt	p.I241N	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)	241					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						AGATTCTGCAATCTGCTCCTG	0.557000													63	6					0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26648783	26648783	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:26648783delC	ENST00000527815.1	-	18	2196	c.2147delG	c.(2146-2148)ggafs	p.G716fs	AIM1L_ENST00000308182.5_Frame_Shift_Del_p.G545fs	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	545							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GCTAGGGGGTCCAATCACCTG	0.622													16	97	---	---	---	---					
BCAR3	8412	broad.mit.edu	37	1	94048001	94048003	+	In_Frame_Del	DEL	AGG	AGG	-	rs138525821		TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:94048001_94048003delAGG	ENST00000370244.1	-	9	1829_1831	c.1541_1543delCCT	c.(1540-1545)tccttc>ttc	p.S514del	BCAR3_ENST00000370243.1_In_Frame_Del_p.S514del|BCAR3_ENST00000260502.6_In_Frame_Del_p.S514del|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000370247.3_In_Frame_Del_p.S423del|BCAR3_ENST00000539242.1_In_Frame_Del_p.S190del	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	514					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TTGGGCCTGAAGGAGGAGACAGT	0.537													31	111	---	---	---	---					
TCHH	7062	broad.mit.edu	37	1	152082957	152082959	+	In_Frame_Del	DEL	CTC	CTC	-	rs143222885	by1000genomes	TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:152082957_152082959delCTC	ENST00000368804.1	-	2	2733_2735	c.2734_2736delGAG	c.(2734-2736)gagdel	p.E912del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	912	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCTGTAGCTCCTCCTCCTCC	0.586													10	561	---	---	---	---					
F5	2153	broad.mit.edu	37	1	169519894	169519895	+	Frame_Shift_Ins	INS	-	-	TTGA	rs6015	byFrequency	TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:169519894_169519895insTTGA	ENST00000367796.3	-	9	1580_1581	c.1379_1380insTCAA	c.(1378-1380)aacfs	p.-460fs	F5_ENST00000546081.1_Frame_Shift_Ins_p.-323fs|F5_ENST00000367797.3_Frame_Shift_Ins_p.-460fs			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)						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)	TGAAAGAAGAGTTGACTTCATC	0.431													8	86	---	---	---	---					
C1orf186	440712	broad.mit.edu	37	1	206241637	206241637	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:206241637delT	ENST00000331555.5	-	4	790	c.152delA	c.(151-153)cagfs	p.Q51fs		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	51						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CCTGGGAACCTGGAGACTGGC	0.552													13	88	---	---	---	---					
SMYD2	56950	broad.mit.edu	37	1	214507617	214507617	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr1:214507617delA	ENST00000366957.5	+	11	1209	c.1187delA	c.(1186-1188)gaafs	p.E396fs	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	396					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		ATGGGCCTGGAACACAAAGCC	0.527													20	137	---	---	---	---					
LOC101927533	101927533	broad.mit.edu	37	2	65738863	65738863	+	RNA	DEL	G	G	-			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:65738863delG	ENST00000377977.3	+	0	862																											TTTTTTTTTTGTCCAGGAGGC	0.303													3	3	---	---	---	---					
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677		TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_ENST00000347849.3_In_Frame_Del_p.TG271del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	378				Missing (in Ref. 1; CAA56105).		cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													7	8	---	---	---	---					
IKZF2	22807	broad.mit.edu	37	2	214012343	214012344	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr2:214012343_214012344delTG	ENST00000442445.1	-	3	302_303	c.245_246delCA	c.(244-246)acafs	p.T82fs	IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000342002.2_Intron|IKZF2_ENST00000413091.3_Intron|IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000434687.1_Intron|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000457361.1_Intron			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TATACCACAATGTGAGAGGACC	0.356													11	43	---	---	---	---					
FAT4	79633	broad.mit.edu	37	4	126241692	126241692	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr4:126241692delA	ENST00000394329.3	+	1	4139	c.4126delA	c.(4126-4128)aaafs	p.K1377fs		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1377	Cadherin 13.				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						TTTTCTTGCCAAAAAACTGGA	0.368													34	167	---	---	---	---					
PCDHA13	56136	broad.mit.edu	37	5	140263135	140263135	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:140263135delC	ENST00000289272.2	+	1	1282	c.1282delC	c.(1282-1284)cggfs	p.R428fs	PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Frame_Shift_Del_p.R428fs|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGACCGCGCGGGACGGGGG	0.652													142	71	---	---	---	---					
HNRNPH1	3187	broad.mit.edu	37	5	179044087	179044089	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr5:179044087_179044089delAAG	ENST00000356731.5	-	9	2615_2617	c.1080_1082delCTT	c.(1078-1083)ttcttg>ttg	p.F360del	HNRNPH1_ENST00000511300.2_In_Frame_Del_p.F90del|HNRNPH1_ENST00000329433.6_In_Frame_Del_p.F360del|HNRNPH1_ENST00000393432.4_In_Frame_Del_p.F360del|HNRNPH1_ENST00000510411.1_In_Frame_Del_p.F360del|HNRNPH1_ENST00000442819.2_In_Frame_Del_p.F360del			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	360	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.|RRM 3.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TGTAGAATTCAAGAAGAGTTCTA	0.335													14	99	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206135	13206135	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr6:13206135delG	ENST00000379350.1	+	7	882	c.753delG	c.(751-753)gtgfs	p.V251fs	PHACTR1_ENST00000457702.2_Frame_Shift_Del_p.V106fs|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Del_p.V251fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GTATGCCCGTGGGGGGGCCAG	0.597													13	71	---	---	---	---					
GS1-124K5.2	0	broad.mit.edu	37	7	65888988	65888988	+	RNA	DEL	T	T	-			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:65888988delT	ENST00000442578.1	-	0	826																											tttttttttcttttttttttt	0.488													2	4	---	---	---	---					
ZKSCAN1	7586	broad.mit.edu	37	7	99631749	99631750	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr7:99631749_99631750delAG	ENST00000324306.6	+	6	1855_1856	c.1621_1622delAG	c.(1621-1623)agafs	p.R541fs	ZKSCAN1_ENST00000535170.1_Frame_Shift_Del_p.R328fs|ZKSCAN1_ENST00000426572.1_Frame_Shift_Del_p.R505fs	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	541					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R543fs*3(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AATCCATGCCAGAGAGAGAGCC	0.520													22	169	---	---	---	---					
DLAT	1737	broad.mit.edu	37	11	111930633	111930635	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr11:111930633_111930635delTGT	ENST00000280346.6	+	12	2180_2182	c.1521_1523delTGT	c.(1519-1524)catgtt>cat	p.V509del	DLAT_ENST00000393051.1_In_Frame_Del_p.V404del|DLAT_ENST00000537636.1_In_Frame_Del_p.V280del	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	509	Catalytic (By similarity).				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	aCAGAAATCATGTTGTTGATGTC	0.315													9	18	---	---	---	---					
ITM2B	9445	broad.mit.edu	37	13	48833016	48833019	+	Frame_Shift_Del	DEL	TTTC	TTTC	-			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr13:48833016_48833019delTTTC	ENST00000378565.5	+	5	851_854	c.648_651delTTTC	c.(646-651)ggtttcfs	p.GF216fs	ITM2B_ENST00000378549.5_Frame_Shift_Del_p.GF110fs	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	216	BRICHOS.				nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		ATCACCTGGGTTTCTTTATTTATC	0.358													61	87	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34032152	34032152	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr15:34032152delG	ENST00000389232.4	+	51	7846	c.7776delG	c.(7774-7776)gtgfs	p.V2592fs	RYR3_ENST00000415757.3_Frame_Shift_Del_p.V2592fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2592	4 X approximate repeats.				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)		AGATCTCAGTGGATGCGGATG	0.468													34	33	---	---	---	---					
RABEP2	79874	broad.mit.edu	37	16	28936433	28936435	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr16:28936433_28936435delGCC	ENST00000358201.4	-	1	638_640	c.50_52delGGC	c.(49-54)cggccg>ccg	p.R17del	RABEP2_ENST00000357573.6_In_Frame_Del_p.R17del|RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000544477.1_In_Frame_Del_p.R17del	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	17					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCAGCCCCCGgccgccgccgccg	0.744													3	6	---	---	---	---					
KRT17P1	147228	broad.mit.edu	37	17	16748666	16748666	+	RNA	DEL	T	T	-	rs78187481	by1000genomes	TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:16748666delT	ENST00000580363.1	-	0	501																				lung(4)	4						TGATGCCCCCTGGAGACCCCT	0.642													49	70	---	---	---	---					
NOS2P1	645740	broad.mit.edu	37	17	25988693	25988702	+	RNA	DEL	CACAGGTGGC	CACAGGTGGC	-	rs3217511		TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr17:25988693_25988702delCACAGGTGGC	ENST00000583179.1	-	0	1982_1991																											GATGTAAAAGCACAGGTGGCCACAGGTTAC	0.500													3	3	---	---	---	---					
ZNF181	339318	broad.mit.edu	37	19	35232328	35232329	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr19:35232328_35232329delCT	ENST00000392232.3	+	6	1342_1343	c.1174_1175delCT	c.(1174-1176)ctcfs	p.L392fs	ZNF181_ENST00000492450.1_Frame_Shift_Del_p.L348fs|ZNF181_ENST00000459757.2_Frame_Shift_Del_p.L347fs			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TCAAGAAAAACTCTATGAGTGT	0.376													35	101	---	---	---	---					
TPTEP1	387590	broad.mit.edu	37	22	17131536	17131537	+	RNA	INS	-	-	CTG	rs34452519		TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chr22:17131536_17131537insCTG	ENST00000426585.1	+	0	2562_2563																											TGCCCACTCTTCTGGTCTCATG	0.540													4	7	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47040732	47040732	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E5-A4TZ-01A-11D-A31L-08	TCGA-E5-A4TZ-10B-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	536bf0da-966d-4d1b-8712-b8aa96c67861	453bc6a0-3be7-48e3-8f60-bd5628a07534	g.chrX:47040732delC	ENST00000377604.3	+	13	2109	c.1367delC	c.(1366-1368)gccfs	p.A456fs	RBM10_ENST00000329236.7_Frame_Shift_Del_p.A378fs|RBM10_ENST00000478410.1_3'UTR|RBM10_ENST00000345781.6_Frame_Shift_Del_p.A379fs	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	456					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TCCCTCTATGCCCATGGCTAC	0.617													6	3	---	---	---	---