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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
OR13C3	138803	broad.mit.edu	37	9	107298816	107298816	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:107298816C>T	uc004bcb.1	-	0	279	c.279G>A	c.(277-279)ctG>ctA	p.L93L		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AGAGGTTGCCCAGGAAGAAGT	0.393000														64			35		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181701793	181701793	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:181701793G>A	uc009wxt.3	+	19	2766	c.2571G>A	c.(2569-2571)aaG>aaA	p.K857K	CACNA1E_uc001gow.3_Silent_p.K857K|CACNA1E_uc009wxs.3_Silent_p.K838K|CACNA1E_uc001gox.1_Silent_p.K83K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	857					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						GGTCCCTCAAGGGGGATGGAG	0.677000														8			5		0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187130114	187130114	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:187130114C>T	uc003iyw.4	+	8	1490	c.1186C>T	c.(1186-1188)Cct>Tct	p.P396S	CYP4V2_uc010ism.3_Non-coding_Transcript	NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA.	396					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TCCTTCTGTTCCTTTATTTGC	0.438000														52			24		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49694044	49694044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:49694044C>T	uc003cxe.4	+	4	7169	c.7055C>T	c.(7054-7056)cCa>cTa	p.P2352L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2352					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCAGCCGGCCAGGGTTCGAG	0.647000														10			10		0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1629868	1629868	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:1629868C>T	uc002wfm.1	-	1	325	c.260G>A	c.(259-261)aGg>aAg	p.R87K	SIRPG_uc002wfn.1_Missense_Mutation_p.R87K|SIRPG_uc002wfo.1_Missense_Mutation_p.R87K	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	87	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TGTTGTTACCCTGGGGAAGTG	0.512000														82			48		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739765	62739765	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:62739765C>T	uc001dah.4	-	2	1388	c.1011G>A	c.(1009-1011)gtG>gtA	p.V337V	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	337										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TGCCTGGATCCACCCTGGCAA	0.582000														80			46		0	0	1	0	0
TJAP1	93643	broad.mit.edu	37	6	43466819	43466819	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:43466819G>A	uc003ovd.2	+	3	456	c.80G>A	c.(79-81)gGa>gAa	p.G27E	TJAP1_uc003ovf.2_Missense_Mutation_p.G27E|TJAP1_uc003ove.2_Missense_Mutation_p.G27E|TJAP1_uc003ovc.2_Missense_Mutation_p.G27E|TJAP1_uc010jyp.2_5'UTR|TJAP1_uc011dvh.1_Missense_Mutation_p.G27E|TJAP1_uc003ovg.2_5'UTR|TJAP1_uc010jyq.2_Missense_Mutation_p.G27E|TJAP1_uc011dvi.1_Missense_Mutation_p.G27E|TJAP1_uc011dvj.2_5'Flank|TJAP1_uc003ovi.2_5'Flank	NM_001146016	NP_001139489	Q5JTD0	TJAP1_HUMAN	Homo sapiens tight junction associated protein 1 (peripheral) (TJAP1), transcript variant 1, mRNA.	27						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GAAATTCCTGGATCCCGGCTT	0.602000														46			23		0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46901894	46901895	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr21:46901894_46901895GG>AA	uc002zhi.3	+	12	2190_2191	c.2169_2170GG>AA	c.(2167-2172)ccggga>ccAAga	p.G724R	COL18A1_uc002zhg.3_Missense_Mutation_p.G544R	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	959	Nonhelical region 1 (NC1).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CAGGCCCTCCGGGAAGAGAGGG	0.604000														25			27		0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24188211	24188211	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:24188211C>A	uc003ccz.4	-	7	1007	c.487G>T	c.(487-489)Gaa>Taa	p.E163*	THRB_uc010hfe.3_Nonsense_Mutation_p.E163*|THRB_uc003ccy.4_Nonsense_Mutation_p.E163*|THRB_uc003ccx.4_Nonsense_Mutation_p.E163*	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	163					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	AAGCGACATTCCTGGCACTGA	0.363000														30			38		1.67305e-13	1.70341e-13	1	1	0
LARP1B	55132	broad.mit.edu	37	4	129012229	129012229	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:129012229C>T	uc003iga.3	+	5	563	c.432C>T	c.(430-432)atC>atT	p.I144I	LARP1B_uc003ifw.1_Silent_p.I97I|LARP1B_uc003ifx.3_Silent_p.I144I|LARP1B_uc003ify.3_Silent_p.I144I|LARP1B_uc003ifz.1_Silent_p.I144I	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.	144	Arg-rich.						RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GTGGTAATATCCGAGGTTCCT	0.398000														45			55		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22068759	22068759	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:22068759A>G	uc001rfh.3	-	4	679	c.659T>C	c.(658-660)gTg>gCg	p.V220A	ABCC9_uc001rfi.1_Missense_Mutation_p.V220A	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	220					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGCAAATTCACAAATGGTTG	0.378000														40			38		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147844692	147844692	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:147844692G>A	uc003weu.2	+	16	3180	c.2664G>A	c.(2662-2664)gaG>gaA	p.E888E		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	888	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCACTGCAGAGAGGAATGTCA	0.572000										HNSCC(39;0.1)				77			52		0	0	1	0	0
SLC39A1	27173	broad.mit.edu	37	1	153932814	153932814	+	Silent	SNP	G	A	A	rs3183512		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:153932814G>A	uc001fdl.3	-	4	1201	c.735C>T	c.(733-735)ctC>ctT	p.L245L	CRTC2_uc021pab.1_5'Flank|SLC39A1_uc001fdi.3_Silent_p.L245L|SLC39A1_uc001fdj.3_Silent_p.L245L|SLC39A1_uc001fdk.3_Silent_p.L245L|SLC39A1_uc010pee.2_Silent_p.L143L	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 1 (SLC39A1), mRNA.	245						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		TGCATGAGAAGAGGATCCCAC	0.627000														37			18		0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99126639	99126639	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:99126639G>A	uc001knf.3	-	26	3214	c.3075C>T	c.(3073-3075)ccC>ccT	p.P1025P	RRP12_uc001kne.3_Silent_p.P40P|RRP12_uc009xvl.3_Silent_p.P142P|RRP12_uc009xvm.3_Silent_p.P743P|RRP12_uc010qou.2_Silent_p.P964P|RRP12_uc009xvn.3_Silent_p.P925P	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	1025						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGTACTCCTCGGGCAACAGCC	0.612000														53			129		0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57512694	57512694	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:57512694G>A	uc003pdx.3	+	14	1606	c.1519G>A	c.(1519-1521)Gat>Aat	p.D507N		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	508					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	p.E507*(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTTTAGTGAAGATTCTTAGGC	0.388000														533			34		0	0	1	0	0
TOR4A	54863	broad.mit.edu	37	9	140173349	140173349	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:140173349G>A	uc022bqh.1	+	0	208	c.208G>A	c.(208-210)Gac>Aac	p.D70N	TOR4A_uc004cmn.3_Missense_Mutation_p.D70N	NM_017723	NP_060193	Q9NXH8	CI167_HUMAN	Homo sapiens chromosome 9 open reading frame 167 (C9orf167), mRNA.	70					chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity										ACCGCGCGCGGACCTGGACCA	0.736000														4			4		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150437134	150437134	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:150437134G>T	uc009wlr.3	+	9	1744	c.1543G>T	c.(1543-1545)Gag>Tag	p.E515*	RPRD2_uc010pcc.1_Nonsense_Mutation_p.E489*|RPRD2_uc001eup.4_Nonsense_Mutation_p.E489*	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	515	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTCCAAGGTGGAGATCACCCC	0.542000											OREG0013786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			14		3.27435e-08	3.31793e-08	1	1	0
ZDBF2	57683	broad.mit.edu	37	2	207171013	207171013	+	Silent	SNP	T	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:207171013T>A	uc002vbp.2	+	4	2011	c.1761T>A	c.(1759-1761)gtT>gtA	p.V587V		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	587							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTGTGATGTTTCTCTTGAGT	0.413000														25			19		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113301615	113301615	+	Missense_Mutation	SNP	C	T	T	rs138442191		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:113301615C>T	uc003ynu.3	-	56	9286	c.9127G>A	c.(9127-9129)Gga>Aga	p.G3043R	CSMD3_uc003yns.3_Missense_Mutation_p.G2245R|CSMD3_uc003ynt.3_Missense_Mutation_p.G3003R|CSMD3_uc011lhx.2_Missense_Mutation_p.G2874R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3043	Sushi 21.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTTGTGATCCACTCCAATGG	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				81			45		0	0	1	0	0
AR	367	broad.mit.edu	37	X	66931363	66931363	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:66931363G>A	uc004dwu.2	+	3	3120	c.2005G>A	c.(2005-2007)Gaa>Aaa	p.E669K	AR_uc022byk.1_Missense_Mutation_p.E669K|AR_uc004dwv.2_Missense_Mutation_p.E137K	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	668	Interaction with MYST2.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TGAAGGCTATGAATGTCAGCC	0.527000									Androgen Insensitivity Syndrome					2			16		0	0	1	0	0
GFM1	85476	broad.mit.edu	37	3	158363444	158363444	+	Silent	SNP	T	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:158363444T>C	uc003fce.3	+	1	215	c.108T>C	c.(106-108)tcT>tcC	p.S36S	GFM1_uc003fcd.3_Silent_p.S36S|GFM1_uc003fcg.3_5'Flank	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Homo sapiens G elongation factor, mitochondrial 1 (GFM1), nuclear gene encoding mitochondrial protein, mRNA.	36					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCCGATGGTCTTCATCAGGGG	0.373000														32			24		0	0	1	0	0
FUCA1	2517	broad.mit.edu	37	1	24186370	24186370	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:24186370G>A	uc001bie.3	-	3	769	c.686C>T	c.(685-687)tCt>tTt	p.S229F	FUCA1_uc009vqt.2_Non-coding_Transcript|FUCA1_uc010oed.1_Non-coding_Transcript	NM_000147	NP_000138	P04066	FUCO_HUMAN	Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.	229					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CTCCCCATCAGACCAGATCAG	0.388000														21			37		0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120307135	120307135	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:120307135C>T	uc001eid.3	-	1	307	c.219G>A	c.(217-219)ctG>ctA	p.L73L	HMGCS2_uc010oxj.2_Silent_p.L73L|HMGCS2_uc021osx.1_5'UTR	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	73					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TATACTTCTCCAGGTCAGTTT	0.547000														55			43		0	0	1	0	0
LBP	3929	broad.mit.edu	37	20	36993331	36993332	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:36993331_36993332GG>AA	uc002xic.1	+	7	881_882	c.846_847GG>AA	c.(844-849)tcggat>tcAAat	p.D283N		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	283			D -> G (in dbSNP:rs2232607).		Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TTGCCATCTCGGATTATGTCTT	0.470000														102			78		0	0	1	0	0
FKBP6	8468	broad.mit.edu	37	7	72745659	72745659	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:72745659G>A	uc003tya.2	+	5	601	c.469_splice	c.e5-1	p.E157_splice	FKBP6_uc003twz.2_Splice_Site_p.E127_splice|FKBP6_uc011kew.1_Splice_Site_p.E152_splice|FKBP6_uc010lbe.1_Splice_Site	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	157					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGGTCCTCAGGAGCAGCAAG	0.493000														47			35		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221779	59221779	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:59221779G>A	uc010dps.1	+	10	2409	c.2257G>A	c.(2257-2259)Gac>Aac	p.D753N	CDH20_uc002lif.2_Missense_Mutation_p.D747N	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	753					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GTTCGAGGGGGACGGCTCTGT	0.652000														5			7		0	0	1	0	0
PCYOX1	51449	broad.mit.edu	37	2	70486650	70486650	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:70486650G>C	uc002sgn.4	+	1	337	c.271G>C	c.(271-273)Gtc>Ctc	p.V91L	PCYOX1_uc010fdo.3_Missense_Mutation_p.V14L|PCYOX1_uc010yqu.2_Intron	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN	Homo sapiens prenylcysteine oxidase 1 (PCYOX1), mRNA.	91					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						AGGAGGTTCTGTCATCCATCC	0.488000														262			161		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413693	178413693	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:178413693G>A	uc003mjr.3	-	7	1741	c.1562C>T	c.(1561-1563)cCc>cTc	p.P521L	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.P104L|GRM6_uc003mjs.1_Missense_Mutation_p.P141L	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	521					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		CGGCCCGCAGGGCAGGCTGCA	0.677000														42			46		0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54014369	54014369	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:54014369C>G	uc004dsu.3	-	14	2093	c.1847G>C	c.(1846-1848)aGg>aCg	p.R616T	PHF8_uc004dsv.3_Missense_Mutation_p.R446T|PHF8_uc004dst.3_Missense_Mutation_p.R580T|PHF8_uc004dsw.3_Missense_Mutation_p.R479T|PHF8_uc004dsx.3_Missense_Mutation_p.R344T|PHF8_uc004dsy.3_Missense_Mutation_p.R580T	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	616					G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						ACTCTTCACCCTTTTCGTACT	0.423000														7			17		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28827596	28827596	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:28827596C>T	uc002rmb.2	+	40	2975	c.2931C>T	c.(2929-2931)ttC>ttT	p.F977F	PLB1_uc010ezj.2_Silent_p.F966F|PLB1_uc002rme.2_Intron	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	977	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.P976L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGCAGCCCTTCTTCCAGAACA	0.572000														42			23		0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41188156	41188156	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:41188156G>A	uc001zne.3	+	1	451	c.112G>A	c.(112-114)Gag>Aag	p.E38K		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	38					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	p.L37M(1)		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)		TGCCCAGCTGGAGAAGGAAGT	0.507000														33			80		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1099444	1099444	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:1099444C>T	uc001lsx.1	+	40	7300	c.7273C>T	c.(7273-7275)Ctg>Ttg	p.L2425L		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4791						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAACACAGTCCTGGTGGAAGG	0.622000														9			4		0	0	1	0	0
ZNF627	199692	broad.mit.edu	37	19	11727605	11727605	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:11727605C>T	uc002msk.2	+	3	495	c.287C>T	c.(286-288)cCt>cTt	p.P96L		NM_145295	NP_660338	Q7L945	ZN627_HUMAN	Homo sapiens zinc finger protein 627 (ZNF627), mRNA.	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						AAGAAAACTCCTGGAGTAAAA	0.438000														139			6		0	0	1	0	0
C20orf197	284756	broad.mit.edu	37	20	58645095	58645095	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:58645095G>A	uc002ybj.1	+	2	372	c.66G>A	c.(64-66)ctG>ctA	p.L22L		NM_173644	NP_775915	Q8N268	CT197_HUMAN	Homo sapiens chromosome 20 open reading frame 197 (C20orf197), mRNA.	22										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			GCCACAGGCTGAAGGTGAGTC	0.547000														32			23		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69798408	69798408	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:69798408G>A	uc003hef.2	-	2	965	c.934C>T	c.(934-936)Caa>Taa	p.Q312*	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	312						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTAACATTTTGAAACAGTGAC	0.403000														86			105		0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33666309	33666309	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:33666309G>A	uc002nui.3	+	10	1328	c.1250G>A	c.(1249-1251)aGa>aAa	p.R417K	TRNA_Thr_uc021usc.1_5'Flank	NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	417										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CAGTGCGAAAGATGTGACAGG	0.488000														128			53		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149227929	149227929	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:149227929C>T	uc002twm.4	+	8	3414	c.2417C>T	c.(2416-2418)tCc>tTc	p.S806F	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_Missense_Mutation_p.S247F	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	806						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TTAGGAAATTCCTTACATCCC	0.458000														85			71		0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30961161	30961161	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr21:30961161G>A	uc002yno.1	-	10	2031	c.1567C>T	c.(1567-1569)Cac>Tac	p.H523Y	GRIK1_uc002ynn.3_Missense_Mutation_p.H508Y|GRIK1_uc011acs.2_Missense_Mutation_p.H523Y|GRIK1_uc011act.2_Intron|GRIK1_uc010glq.1_Missense_Mutation_p.H366Y	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	523					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TTACTTACGTGATCTATGAGT	0.363000														73			25		0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132233971	132233971	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:132233971C>A	uc003kyd.3	-	9	1748	c.1340G>T	c.(1339-1341)aGt>aTt	p.S447I	AFF4_uc011cxk.2_Missense_Mutation_p.S125I|AFF4_uc003kye.1_Missense_Mutation_p.S447I	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	447	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTCACTGGAACTACTTTCACT	0.527000														92			11		0.0135373	0.0136011	1	1	0
CYP4F12	66002	broad.mit.edu	37	19	15807291	15807291	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:15807291C>T	uc002nbl.3	+	11	1485	c.1366C>T	c.(1366-1368)Ctg>Ttg	p.L456L		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GAGGTCACCTCTGGCTTTTAT	0.557000														144			103		0	0	1	0	0
KBTBD5	131377	broad.mit.edu	37	3	42730461	42730461	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:42730461C>T	uc003clv.1	+	3	1622	c.1522C>T	c.(1522-1524)Cat>Tat	p.H508Y		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	508										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GGCCACTGTCCATGATGGCCG	0.552000														49			12		0	0	1	0	0
LOC731789	731789	broad.mit.edu	37	10	26939635	26939635	+	RNA	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:26939635G>A	uc001isu.4	+	3		c.5629G>A								Homo sapiens uncharacterized LOC731789 (LOC731789), non-coding RNA.																		CGTCCCCcaggagaattgctt	0.522000														3			10		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675715	62675715	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:62675715G>A	uc021ooc.1	+	4	1704	c.1269G>A	c.(1267-1269)ggG>ggA	p.G423G	L1TD1_uc001dae.4_Silent_p.G423G	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	423	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						aggcttcagggttggaggagg	0.542000														42			21		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78318782	78318783	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:78318782_78318783GG>TA	uc002jyh.2	+	29	6937_6938	c.6794_6795GG>TA	c.(6793-6795)cgg>cTA	p.R2265L	RNF213_uc021uen.1_Missense_Mutation_p.R2216L	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCAGAGCTTCGGAACTTTGCTC	0.500000														84			64		0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159898129	159898129	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:159898129G>A	uc001fur.2	-	18	3247	c.3049C>T	c.(3049-3051)Cct>Tct	p.P1017S	IGSF9_uc001fuq.2_Missense_Mutation_p.P1001S|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Missense_Mutation_p.P163S	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	1017						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGCCTCGAGGGGCAGCAGGG	0.701000														7			12		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69692148	69692148	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:69692148G>A	uc003hee.3	+	3	1045	c.1020G>A	c.(1018-1020)ggG>ggA	p.G340G	UGT2B10_uc011cam.2_Silent_p.G256G	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	340					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.G340G(3)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GATTTGATGGGAATAAACCAG	0.363000														47			24		0	0	1	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111636104	111636104	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:111636104C>T	uc001plw.1	-	1	203	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	PPP2R1B_uc010rwi.1_Intron|PPP2R1B_uc001plx.1_Missense_Mutation_p.R40Q|PPP2R1B_uc010rwk.1_Missense_Mutation_p.R40Q|PPP2R1B_uc010rwl.1_Missense_Mutation_p.R40Q|PPP2R1B_uc010rwj.1_5'UTR	NM_181699	NP_859050	P30154	2AAB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, beta (PPP2R1B), transcript variant 2, mRNA.	40							protein binding	p.R40R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		ACTGTTGAGTCGGAGCTTCAG	0.373000														17			35		0	0	1	0	0
ANXA3	306	broad.mit.edu	37	4	79518495	79518495	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:79518495C>T	uc003hld.3	+	9	967	c.657C>T	c.(655-657)atC>atT	p.I219I		NM_005139	NP_005130	P12429	ANXA3_HUMAN	Homo sapiens annexin A3 (ANXA3), mRNA.	219			I -> N (in dbSNP:rs5948).		defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ACAGAAATATCAGCCAAAAGG	0.338000														57			18		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78925602	78925602	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:78925602C>T	uc004akc.2	+	28	4176	c.3638C>T	c.(3637-3639)tCc>tTc	p.S1213F		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	865					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCCTGTGTTTCCTCCTGTCCC	0.512000														3			20		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57579590	57579590	+	Missense_Mutation	SNP	C	T	T	rs140707279	by1000genomes	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:57579590C>T	uc001snd.3	+	40	7206	c.6740C>T	c.(6739-6741)aCc>aTc	p.T2247I		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2247					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGGCAGGCACCTCTCCGGGC	0.582000														68			40		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8862482	8862482	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:8862482G>A	uc002wnb.3	+	31	3640	c.3637G>A	c.(3637-3639)Gat>Aat	p.D1213N	PLCB1_uc002wna.3_3'UTR	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	1213					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAAAGAATTTGATACTCCTCT	0.532000														71			44		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321790	79321791	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:79321790_79321791CC>TT	uc010mpk.3	-	7	5523_5524	c.5399_5400GG>AA	c.(5398-5400)tgg>tAA	p.W1800*	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Nonsense_Mutation_p.W1622*	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1800					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAGATATTTGCCATGCAACATC	0.465000														4			7		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8190815	8190815	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:8190815C>T	uc002mjf.3	-	20	2709	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	898	EGF-like 11; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ATCAGGCCCTCTGGACACTCA	0.622000														55			44		0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185198098	185198098	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:185198098G>A	uc010hyf.3	+	13	2871	c.2580G>A	c.(2578-2580)gaG>gaA	p.E860E	MAP3K13_uc011brt.2_Silent_p.E653E|MAP3K13_uc011bru.2_Silent_p.E716E|MAP3K13_uc003fpi.3_Silent_p.E860E|MAP3K13_uc010hyg.3_Silent_p.E550E	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	860					JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			ATGGAGAAGAGGGAAATACCA	0.493000														90			33		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121748158	121748159	+	Missense_Mutation	DNP	CC	TT	TT	rs144803259		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:121748158_121748159CC>TT	uc010flp.3	+	12	4698_4699	c.4668_4669CC>TT	c.(4666-4671)atcccc>atTTcc	p.P1557S	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.P1229S|GLI2_uc002tmu.4_Missense_Mutation_p.P1212S	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1557					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGCCCTCCATCCCCGCAGGCAT	0.624000														115			92		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656474	46656474	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:46656474G>A	uc003bhh.3	-	0	2746	c.2746C>T	c.(2746-2748)Cct>Tct	p.P916S		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	916					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	p.P916S(2)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTTAACCAAGGAAAGAGGTCA	0.413000														124			75		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94160746	94160746	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:94160746C>T	uc001ybv.1	+	45	7271	c.7188C>T	c.(7186-7188)acC>acT	p.T2396T	UNC79_uc001ybs.1_Silent_p.T2374T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2551						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCAATTCGACCATTTTTGTCA	0.333000														28			24		0	0	1	0	0
GCLC	2729	broad.mit.edu	37	6	53380952	53380952	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:53380952G>A	uc003pbw.2	-	3	999	c.515C>T	c.(514-516)tCc>tTc	p.S172F	GCLC_uc021zau.1_Intron|GCLC_uc003pbx.3_Missense_Mutation_p.S172F	NM_001498	NP_001489	P48506	GSH1_HUMAN	Homo sapiens glutamate-cysteine ligase, catalytic subunit (GCLC), transcript variant 1, mRNA.	172					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AAAGAAGAGGGACTTGGAAGC	0.478000														71			22		0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413644	61413644	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:61413644G>A	uc010qig.1	-	4	1589	c.1140C>T	c.(1138-1140)atC>atT	p.I380I		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	380					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GGCCCATGATGATTAAGGTAG	0.418000														76			58		0	0	1	0	0
LYSMD1	388695	broad.mit.edu	37	1	151133436	151133436	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:151133436G>A	uc001ewy.3	-	2	1242	c.606C>T	c.(604-606)gtC>gtT	p.V202V	SCNM1_uc021oyk.1_Intron|LYSMD1_uc010pcr.2_Silent_p.V154V	NM_212551	NP_997716	Q96S90	LYSM1_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 1 (LYSMD1), transcript variant 1, mRNA.	202					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	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)			CAGGACCTAGGACTGCTCGTT	0.572000														57			42		0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17669248	17669248	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:17669248G>A	uc002zmk.1	-	5	1274	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	CECR1_uc010gqu.1_Silent_p.F354F|CECR1_uc011agi.1_Silent_p.F312F|CECR1_uc002zmj.1_Silent_p.F113F	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	354					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CGGCGTGGAAGAAGTAAGGCA	0.602000														35			20		0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91448660	91448661	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:91448660_91448661CC>TT	uc010bnz.2	+	2	427_428	c.312_313CC>TT	c.(310-315)ccccgg>ccTTgg	p.R105W	MAN2A2_uc010boa.3_Missense_Mutation_p.R147W|MAN2A2_uc002bqc.3_Missense_Mutation_p.R105W|MAN2A2_uc010uql.2_5'Flank|MAN2A2_uc010uqm.2_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	105					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CACCGGAGCCCCGGCCCAGCTT	0.653000														40			46		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189526145	189526145	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:189526145G>A	uc003fry.2	+	3	498	c.409G>A	c.(409-411)Gac>Aac	p.D137N	TP63_uc003frx.2_Missense_Mutation_p.D137N|TP63_uc003frz.2_Missense_Mutation_p.D137N|TP63_uc010hzc.1_Missense_Mutation_p.D137N|TP63_uc003fsa.2_Missense_Mutation_p.D43N|TP63_uc003fsb.2_Missense_Mutation_p.D43N|TP63_uc003fsc.2_Missense_Mutation_p.D43N|TP63_uc003fsd.2_Missense_Mutation_p.D43N|TP63_uc021xir.1_Missense_Mutation_p.D43N|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Missense_Mutation_p.D18N	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	137					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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTATAACACAGACCACGCGCA	0.617000										HNSCC(45;0.13)				70			43		0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30862999	30862999	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:30862999G>A	uc003ahy.3	-	5	578	c.489C>T	c.(487-489)ttC>ttT	p.F163F	SEC14L3_uc003ahz.3_Silent_p.F86F|SEC14L3_uc003aia.3_Silent_p.F104F|SEC14L3_uc003aib.3_Silent_p.F104F	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	163	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	GAGGTTTCCAGAAGTGTTTCA	0.522000														65			39		0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49717509	49717510	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:49717509_49717510GT>AA	uc009zlh.3	+	1	285_286	c.118_119GT>AA	c.(118-120)gtg>AAg	p.V40K	TROAP_uc001rtv.3_Missense_Mutation_p.V40K|TROAP_uc001rtw.4_Missense_Mutation_p.V40K|TROAP_uc001rtx.4_Missense_Mutation_p.V40K	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	40					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						ATCGTGCGCCGTGGACCAGGAG	0.550000														145			66		0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15212338	15212338	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:15212338C>T	uc001mlz.3	+	5	782	c.671C>T	c.(670-672)cCc>cTc	p.P224L	INSC_uc001mly.3_Missense_Mutation_p.P271L|INSC_uc001mma.3_Missense_Mutation_p.P224L|INSC_uc010rcs.2_Missense_Mutation_p.P259L|INSC_uc001mmb.3_Missense_Mutation_p.P224L|INSC_uc001mmc.3_Missense_Mutation_p.P224L	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	271					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GAGGGGGCTCCCTTGTGCCGC	0.517000														121			72		0	0	1	0	0
SFTPB	6439	broad.mit.edu	37	2	85893848	85893848	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:85893848G>A	uc002sqj.3	-	4	421	c.321C>T	c.(319-321)ttC>ttT	p.F107F	SFTPB_uc002sqi.3_Silent_p.F107F|SFTPB_uc002sqh.3_Silent_p.F107F	NM_000542	NP_942140	P07988	PSPB_HUMAN	Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA.	95	Saposin B-type 1.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						CCTGCTCCAGGAACTTCCTCA	0.622000														116			90		0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36767919	36767919	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:36767919G>A	uc002xhr.3	-	8	1337	c.1237C>T	c.(1237-1239)Cac>Tac	p.H413Y	TGM2_uc010zvx.2_Missense_Mutation_p.H332Y|TGM2_uc010zvy.2_Missense_Mutation_p.H353Y|TGM2_uc002xhs.1_Missense_Mutation_p.H389Y|TGM2_uc002xht.3_Missense_Mutation_p.H413Y|DJ417906_uc021wdl.1_5'Flank	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	413					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	ATGGATTTGTGCACAGACCCA	0.567000														62			24		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73047455	73047455	+	RNA	SNP	C	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:73047455C>A	uc004ebn.2	+	0		c.35416C>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		TTAAAACGAACGAGAAGGGGA	0.398000														5			8		1	1	1	1	0
HERC2P3	283755	broad.mit.edu	37	15	20657730	20657730	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:20657730G>A	uc001ytg.3	-	15	2248	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Silent_p.F513F|HERC2P3_uc010tyy.2_Silent_p.F513F|HERC2P3_uc010tyz.1_3'UTR					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											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						TCACCAGGAGGAAGTGGGCTT	0.607000														24			19		0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273352	125273352	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:125273352C>T	uc011lyv.2	+	0	272	c.272C>T	c.(271-273)tCg>tTg	p.S91L	OR1J2_uc004bmj.2_Missense_Mutation_p.S91L	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S91L(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						AAGTACAAATCGATCCTCTAT	0.408000														80			48		0	0	1	0	0
MTMR1	8776	broad.mit.edu	37	X	149931115	149931115	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:149931115G>A	uc004feh.1	+	15	2070	c.1935G>A	c.(1933-1935)cgG>cgA	p.R645R	MTMR1_uc011mya.1_Silent_p.R543R|MTMR1_uc004fei.3_Silent_p.R637R|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Intron	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.	637	Poly-Ser.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTACAGCGGGAGGTGGCCA	0.657000														26			53		0	0	1	0	0
EFNB1	1947	broad.mit.edu	37	X	68060446	68060446	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:68060446C>T	uc004dxe.2	+	4	1770	c.990C>T	c.(988-990)atC>atT	p.I330I	EFNB1_uc004dxd.4_Silent_p.I330I	NM_004429	NP_004420	P98172	EFNB1_HUMAN	Homo sapiens ephrin-B1 (EFNB1), mRNA.	330					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						CTGTCTACATCGTCCAAGAGA	0.617000														4			20		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152688434	152688434	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:152688434C>T	uc021zhb.1	-	59	10114	c.9891G>A	c.(9889-9891)acG>acA	p.T3297T	SYNE1_uc003qot.4_Silent_p.T3304T|SYNE1_uc003qou.4_Silent_p.T3297T|SYNE1_uc010kja.2_Silent_p.T2T|SYNE1_uc003qov.3_Silent_p.T375T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3297					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAATCGCATCCGTCATCCAGT	0.458000										HNSCC(10;0.0054)				26			103		0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70601712	70601712	+	Missense_Mutation	SNP	C	T	T	rs139965533	byFrequency	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:70601712C>T	uc004dzu.4	+	8	1528	c.1477C>T	c.(1477-1479)Cgg>Tgg	p.R493W	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.R514W	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	493					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGCCATGCCCCGGCTGTTGGA	0.458000														17			40		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74489343	74489343	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:74489343C>T	uc002sko.1	-	5	734	c.732G>A	c.(730-732)cgG>cgA	p.R244R	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Silent_p.R244R|SLC4A5_uc010ffc.1_Silent_p.R244R|SLC4A5_uc002skp.1_Silent_p.R180R|SLC4A5_uc002sks.1_Silent_p.R244R	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	244						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CACCAGGGCTCCGGGCAGGAC	0.567000														36			25		0	0	1	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726749	25726749	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:25726749C>T	uc003nfc.3	-	0	42	c.7G>A	c.(7-9)Gga>Aga	p.G3R	HIST1H2BA_uc003nfd.3_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.	3					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TTCCCTCGTCCAGACATCTCC	0.522000														113			54		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	1998971	1998971	+	Missense_Mutation	SNP	G	A	A	rs148337899		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:1998971G>A	uc003wpx.4	+	1	229	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	31					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTGCTGGACGAATATGCGTC	0.493000														29			20		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69870734	69870734	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:69870734C>T	uc011cao.1	-	7	1421	c.1295G>A	c.(1294-1296)cGa>cAa	p.R432Q	UGT2B10_uc011can.1_Missense_Mutation_p.R348Q			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	476					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GGCTGCAACTCGAAGGTGTTT	0.473000														68			65		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112777075	112777075	+	Missense_Mutation	SNP	G	A	A	rs147779020	by1000genomes	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:112777075G>A	uc002thk.1	+	15	2287	c.2165G>A	c.(2164-2166)cGa>cAa	p.R722Q	MERTK_uc002thl.1_Missense_Mutation_p.R546Q	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	722	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTTCTTCATCGAGATTTAGCT	0.463000														91			67		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142486217	142486217	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:142486217C>T	uc003ywi.2	-	12	1557	c.1476G>A	c.(1474-1476)agG>agA	p.R492R	FLJ43860_uc011ljs.1_Intron|FLJ43860_uc010meu.1_Intron	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	492							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCTGAGACTTCCTTTCCAAGT	0.607000														8			3		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54626042	54626042	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:54626042T>A	uc021smr.1	+	13	4566	c.4566T>A	c.(4564-4566)ttT>ttA	p.F1522L	UNC13C_uc021sms.1_Missense_Mutation_p.F1524L|UNC13C_uc002acl.3_Missense_Mutation_p.F354L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1524					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTATCACCTTTTTTAGGATGA	0.368000														3			7		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21098807	21098807	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:21098807C>T	uc001iqi.3	-	24	2936	c.2539G>A	c.(2539-2541)Gat>Aat	p.D847N	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	847	Linker.				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						GAGCCAGGATCTGTGCGCCAA	0.388000														58			39		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83933264	83933264	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:83933264G>A	uc002bjt.1	-	3	827	c.739C>T	c.(739-741)Cag>Tag	p.Q247*	BNC1_uc010uos.1_Nonsense_Mutation_p.Q235*	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	247	Hydrophobic.				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TTGAAGAACTGGAAAGGCAGC	0.502000														9			72		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140745857	140745857	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140745857C>T	uc003lju.2	+	0	1960	c.1960C>T	c.(1960-1962)Ctg>Ttg	p.L654L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.L654L	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	656	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCCCCCTCTGTCAGCCAC	0.647000														193			209		0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88895799	88895799	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:88895799C>T	uc001xwq.3	+	7	1441	c.1020C>T	c.(1018-1020)tcC>tcT	p.S340S	SPATA7_uc001xwr.3_Silent_p.S308S|SPATA7_uc001xws.3_Silent_p.S276S|SPATA7_uc001xwt.3_Silent_p.S234S|SPATA7_uc001xwu.3_5'UTR	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 1, mRNA.	340					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TTCAGCATTCCTCACCAAGGT	0.358000														33			19		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6836570	6836570	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:6836570C>T	uc002mfu.1	+	19	2002	c.1905C>T	c.(1903-1905)aaC>aaT	p.N635N	VAV1_uc010xjh.1_Silent_p.N603N|VAV1_uc010dva.1_Silent_p.N635N|VAV1_uc002mfv.1_Silent_p.N580N	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	635	SH3 1.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CTGAACAGAACTGGTGGGAGG	0.562000														27			19		0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50293693	50293694	+	Missense_Mutation	DNP	CC	TT	TT	rs137853226		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:50293693_50293694CC>TT	uc003cyq.1	+	4	655_656	c.534_535CC>TT	c.(532-537)acccgc>acTTgc	p.R179C	GNAI2_uc003cyo.1_Missense_Mutation_p.R163C|GNAI2_uc003cyp.1_Missense_Mutation_p.R163C|GNAI2_uc010hlg.1_Missense_Mutation_p.R98C|GNAI2_uc011bdn.2_Missense_Mutation_p.R142C|GNAI2_uc003cyr.1_Missense_Mutation_p.R98C	NM_002070	NP_002061	P04899	GNAI2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 (GNAI2), transcript variant 1, mRNA.	179					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.R179H(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TGCTACGGACCCGCGTAAAGAC	0.594000														40			38		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692762	135692762	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:135692762C>T	uc003lbn.2	-	1	536	c.314G>A	c.(313-315)cGg>cAg	p.R105Q	TRPC7_uc010jef.2_Missense_Mutation_p.R96Q|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.R105Q|TRPC7_uc010jei.2_Missense_Mutation_p.R105Q	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	105					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.R105W(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTCCCCCACCCGTGCCAGGTT	0.652000														62			63		0	0	1	0	0
RARA	5914	broad.mit.edu	37	17	38512373	38512373	+	Silent	SNP	G	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:38512373G>C	uc021txb.1	+	7	1646	c.1284G>C	c.(1282-1284)ggG>ggC	p.G428G	RARA_uc002huk.2_Silent_p.G428G|RARA_uc002hul.4_Silent_p.G428G|RARA_uc010wfe.2_Silent_p.G331G|RARA_uc002hun.2_Silent_p.G423G	NM_001145301	NP_001138773	P10276	RARA_HUMAN	Homo sapiens retinoic acid receptor, alpha (RARA), transcript variant 3, mRNA.	428					apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of T-helper 2 cell differentiation|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GACAGCCGGGGGGTGGGGGGC	0.687000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL									4			12		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124281777	124281777	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:124281777G>A	uc003ehg.3	+	33	5144	c.5017G>A	c.(5017-5019)Gta>Ata	p.V1673I	KALRN_uc003ehi.3_Missense_Mutation_p.V46I	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1673	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGGGCAGACGGTAGAGCTGCT	0.662000														21			17		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20799775	20799776	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:20799775_20799776GG>AA	uc001reh.2	+	11	2496_2497	c.2456_2457GG>AA	c.(2455-2457)ggg>gAA	p.G819E	PDE3A_uc021qwa.1_Missense_Mutation_p.G497E	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	819	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGTCTGTCTGGGAATATCCCTG	0.436000														107			66		0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17280681	17280681	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:17280681C>T	uc002zlv.3	-	2	667	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	XKR3_uc011agf.2_Missense_Mutation_p.R190Q	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	190						integral to membrane|plasma membrane		p.R190L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGGCCATTCTCGTATAGTGAG	0.358000														91			57		0	0	1	0	0
LINC00207	388910	broad.mit.edu	37	22	44965319	44965319	+	RNA	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:44965319G>A	uc011aqg.2	+	0		c.100G>A			LINC00207_uc021wre.1_Non-coding_Transcript|LINC00207_uc011aqh.2_Non-coding_Transcript					Homo sapiens long intergenic non-protein coding RNA 207 (LINC00207), transcript variant 1, non-coding RNA.											lung(3)	3						gtgtgacatgggagtaagttt	0.443000														54			30		0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1582486	1582486	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:1582486G>A	uc002fte.3	-	10	1538	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	475						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGCTTTGAAGGAGCGGAACAA	0.532000														95			46		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	62055071	62055071	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:62055071C>T	uc002eog.2	-	1	1192	c.237G>A	c.(235-237)ccG>ccA	p.P79P		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	79	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CAACAAGAATCGGTTCAGGTC	0.408000														19			32		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28970753	28970753	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:28970753G>A	uc002kwr.2	+	5	787	c.652G>A	c.(652-654)Gtc>Atc	p.V218I	DSG4_uc002kwq.2_Missense_Mutation_p.V218I	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	218	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CACTGGAGAAGTCTGCACCAT	0.383000														3			17		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24835206	24835206	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:24835206G>A	uc001iru.4	+	20	6188	c.5785G>A	c.(5785-5787)Gga>Aga	p.G1929R	KIAA1217_uc001irs.3_Missense_Mutation_p.G1250R|KIAA1217_uc001irt.4_Missense_Mutation_p.G1295R|KIAA1217_uc010qcy.2_Missense_Mutation_p.G1360R|KIAA1217_uc010qcz.2_Missense_Mutation_p.G1335R|KIAA1217_uc001irw.3_3'UTR|KIAA1217_uc001irz.3_3'UTR|KIAA1217_uc001irx.3_3'UTR|KIAA1217_uc001iry.3_3'UTR	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1929					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGCACAGAATGGAAGTTCAAG	0.483000														40			40		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511679	169511679	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:169511679C>T	uc001ggg.1	-	12	2794	c.2649G>A	c.(2647-2649)atG>atA	p.M883I		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	883	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.M883I(2)		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)	CTAGTAATTTCATCCAGGAGA	0.473000														152			79		0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258814	56258814	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:56258814G>A	uc001nix.1	-	0	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CCAGGAGAATGAACTCAGTCA	0.433000														74			48		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77700219	77700219	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:77700219C>T	uc011cbx.2	+	10	6833	c.5880C>T	c.(5878-5880)ttC>ttT	p.F1960F	SHROOM3_uc003hkg.3_Silent_p.F1738F	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1960					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCTCAGATTTCATTCCCAAGG	0.557000														63			24		0	0	1	0	0
PEG10	23089	broad.mit.edu	37	7	94293208	94293208	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:94293208G>A	uc003uno.3	+	1	819	c.340G>A	c.(340-342)Gat>Aat	p.D114N	PEG10_uc011kie.2_Missense_Mutation_p.D190N|PEG10_uc022ahn.1_Missense_Mutation_p.D114N	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.	114	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTTCTCAGTTGATCGTGTCCG	0.557000														40			35		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119961555	119961555	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:119961555G>A	uc001txe.3	+	10	1626	c.1161G>A	c.(1159-1161)agG>agA	p.R387R	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	387								p.R387S(2)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ACACCATGAGGGCCAAGTTTT	0.498000														12			21		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19020728	19020728	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:19020728G>A	uc002dfp.2	+	1	432	c.302G>A	c.(301-303)cGg>cAg	p.R101Q	TMC7_uc010vao.1_Missense_Mutation_p.R101Q|TMC7_uc002dfq.3_Missense_Mutation_p.R101Q|TMC7_uc010vap.2_5'UTR	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	101						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TCTGAGAAGCGGAGACTAAGG	0.473000														19			54		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092787	147092787	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:147092787C>T	uc003weu.2	+	9	2101	c.1585C>T	c.(1585-1587)Caa>Taa	p.Q529*	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	529	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGTGGACGATCAACTTGTAAA	0.428000										HNSCC(39;0.1)				125			88		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495070	71495071	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:71495070_71495071CC>TT	uc003kbw.4	+	4	6129_6130	c.5888_5889CC>TT	c.(5887-5889)acc>aTT	p.T1963I	MAP1B_uc010iyw.1_Missense_Mutation_p.T1980I|MAP1B_uc010iyx.1_Missense_Mutation_p.T1837I|MAP1B_uc010iyy.1_Missense_Mutation_p.T1837I	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1963						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGTGAAAAGACCACCAGCCCCC	0.475000														77			81		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124272495	124272495	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:124272495C>T	uc001uft.4	+	9	1408	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F	DNAH10_uc010tav.1_5'Flank|DNAH10_uc010taw.1_5'Flank	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	461	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGCGGCTGTTCGAGAGGACGG	0.597000														2			3		0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	129993624	129993624	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:129993624G>T	uc010sby.2	+	6	1197	c.1040G>T	c.(1039-1041)aGg>aTg	p.R347M	APLP2_uc001qfp.3_Missense_Mutation_p.R347M|APLP2_uc001qfq.3_Intron|APLP2_uc010sbz.2_Intron|APLP2_uc001qfr.3_Intron|APLP2_uc001qfs.3_Intron|APLP2_uc021qsg.1_Missense_Mutation_p.R357M|APLP2_uc001qfv.3_Intron	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	347	BPTI/Kunitz inhibitor.				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GGCGGCAACAGGAACAATTTT	0.582000														111			75		5.88917e-42	6.06556e-42	1	1	0
ZNF292	23036	broad.mit.edu	37	6	87970907	87970907	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:87970907C>T	uc003plm.4	+	7	7601	c.7560C>T	c.(7558-7560)tgC>tgT	p.C2520C		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATAACCTCTGCCAGTCAGAAA	0.303000														38			19		0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20439127	20439127	+	Silent	SNP	G	A	A	rs12922063		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:20439127G>A	uc002dhe.3	+	6	1086	c.939G>A	c.(937-939)ccG>ccA	p.P313P		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	313					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CCAAATTCCCGATAACCACCC	0.473000														46			96		0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56712947	56712947	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:56712947G>A	uc001skx.3	-	23	3678	c.3301C>T	c.(3301-3303)Ctt>Ttt	p.L1101F	CNPY2_uc001sku.2_5'Flank|CNPY2_uc001skv.3_5'Flank|PAN2_uc001skw.3_Missense_Mutation_p.L249F|PAN2_uc001sky.3_Missense_Mutation_p.L1097F|PAN2_uc001skz.3_Missense_Mutation_p.L1100F	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	1101	Exonuclease.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ACAGTGTCAAGGACTTGGTCC	0.498000														59			33		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11583139	11583139	+	Missense_Mutation	SNP	G	A	A	rs140587305	byFrequency	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:11583139G>A	uc002gne.3	+	17	3487	c.3419G>A	c.(3418-3420)gGa>gAa	p.G1140E	DNAH9_uc010coo.3_Missense_Mutation_p.G434E	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1140	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTTGAAAAAGGAGATTTCCAA	0.423000														91			53		0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102568881	102568881	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:102568881C>T	uc001krk.4	+	7	1426	c.876C>T	c.(874-876)tcC>tcT	p.S292S	PAX2_uc001krm.4_Silent_p.S292S|PAX2_uc001krn.4_Silent_p.S269S|PAX2_uc001kro.4_Silent_p.S269S|PAX2_uc010qps.2_Silent_p.S268S|PAX2_uc001krl.4_Silent_p.S269S|PAX2_uc001krp.1_Silent_p.S265S	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	292					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		ACGAGTACTCCCTCCCAGCCC	0.572000														29			91		0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8687402	8687402	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:8687402G>A	uc001quo.1	-	5	657	c.492C>T	c.(490-492)ttC>ttT	p.F164F		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	164	C-type lectin.					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)					CTACATCCCAGAAGCTGAAAA	0.408000														48			29		0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66204770	66204770	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:66204770C>T	uc011dxu.1	-	3	1072	c.534G>A	c.(532-534)ctG>ctA	p.L178L	EYS_uc003peq.3_Silent_p.L178L|EYS_uc003per.1_Silent_p.L178L|EYS_uc021zbn.1_Silent_p.L178L|EYS_uc010kaj.1_Non-coding_Transcript	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	178	EGF-like 1.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTCTGAACTCAGAGATTCCT	0.438000														36			37		0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158735579	158735579	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:158735579C>T	uc010piq.2	-	0	894	c.894G>A	c.(892-894)aaG>aaA	p.K298K		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TCACAGCCTCCTTGATCTCCT	0.562000														116			85		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177250406	177250406	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:177250406G>A	uc001glf.3	+	7	2406	c.2094G>A	c.(2092-2094)cgG>cgA	p.R698R	FAM5B_uc001glg.3_Silent_p.R593R	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	698						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						ATGCTATCCGGGACTTAATTC	0.498000														107			71		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345849	92345849	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:92345849C>T	uc010tif.2	+	2	1100	c.734C>T	c.(733-735)tCc>tTc	p.S245F		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	245				S -> F (in Ref. 2; AAC12261).		anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CTGCACTTCTCCAAAGAGTGC	0.547000														26			30		0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155732402	155732402	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:155732402C>T	uc003qqm.3	-	10	1504	c.1401G>A	c.(1399-1401)ggG>ggA	p.G467G		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	467							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AGTGAGTTTTCCCCTGCTCAC	0.423000														9			38		0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202568427	202568427	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:202568427C>T	uc001gye.3	-	7	1165	c.972G>A	c.(970-972)aaG>aaA	p.K324K	SYT2_uc010pqb.2_Silent_p.K324K|SYT2_uc009xaf.3_Silent_p.K154K	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	324	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CGGTTGTCTTCTTCTTCTTGA	0.547000														136			56		0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125438296	125438296	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:125438296G>A	uc011lzb.2	+	0	888	c.888G>A	c.(886-888)atG>atA	p.M296I		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D295Y(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						ACAAAGACATGAAACGGGGCT	0.378000														40			11		0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97529719	97529719	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:97529719G>A	uc002sxg.4	-	8	1664	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V	SEMA4C_uc002sxf.4_5'Flank|SEMA4C_uc002sxe.3_5'Flank|SEMA4C_uc002sxh.4_Missense_Mutation_p.A425V	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	425	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AACCCGGTCGGCCACCAGGTG	0.612000														14			21		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73679775	73679775	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:73679775C>T	uc002sje.1	+	7	6229	c.6118C>T	c.(6118-6120)Cag>Tag	p.Q2040*	ALMS1_uc002sjf.1_Nonsense_Mutation_p.Q1998*|ALMS1_uc002sjg.3_Nonsense_Mutation_p.Q1428*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.Q1428*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2040	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GACTCCATCCCAGACAGCTTT	0.388000														110			84		0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151775135	151775136	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:151775135_151775136GG>AA	uc001ezf.1	-	1	235_236	c.45_46CC>TT	c.(43-48)cccccg>ccTTcg	p.P16S	LINGO4_uc021oyu.1_Missense_Mutation_p.P16S	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	16						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAAGGAGCGGGGGCCATGGGG	0.604000														8			5		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711938	140711938	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140711938C>T	uc003lji.2	+	0	1687	c.1687C>T	c.(1687-1689)Ctg>Ttg	p.L563L	PCDHGC5_uc011dan.2_Silent_p.L563L	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	565	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGAGATCCTGTACCCCGC	0.652000														215			119		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74287323	74287323	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:74287323T>A	uc002jrd.1	-	3	3167	c.2987A>T	c.(2986-2988)gAc>gTc	p.D996V	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	996							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TAAGACTCGGTCGACGGAGTC	0.537000														69			35		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139410090	139410090	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:139410090C>T	uc004chz.3	-	10	1748	c.1748G>A	c.(1747-1749)gGc>gAc	p.G583D	NOTCH1_uc004cia.1_5'Flank	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	583	EGF-like 15; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGTGGCGACGCCGTCCTTGCA	0.701000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				13			11		0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100453015	100453015	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:100453015C>T	uc001tgq.3	-	13	2269	c.2040G>A	c.(2038-2040)ttG>ttA	p.L680L	UHRF1BP1L_uc001tgp.3_Silent_p.L330L	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	680										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGTTTTTATTCAATTGGGGAG	0.343000														13			28		0	0	1	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454805	114454806	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:114454805_114454806CC>AA	uc001eeg.3	+	3	1885_1886	c.1591_1592CC>AA	c.(1591-1593)ccc>AAc	p.P531N	DCLRE1B_uc001eeh.3_3'UTR|DCLRE1B_uc001eei.3_Missense_Mutation_p.P405N	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	531					DNA repair|cell cycle checkpoint|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)		ATACCATAAACCCTGCTGAAGA	0.450000								Other identified genes with known or suspected DNA repair function						52			38		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222298922	222298922	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:222298922G>A	uc002vmq.3	-	13	2478	c.2436C>T	c.(2434-2436)atC>atT	p.I812I	EPHA4_uc002vmr.2_Silent_p.I812I|EPHA4_uc010zlm.1_Silent_p.I753I	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	812	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CCCACATAACGATTCCATAGC	0.433000														71			47		0	0	1	0	0
MGARP	84709	broad.mit.edu	37	4	140188177	140188177	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:140188177G>A	uc003ihr.1	-	3	479	c.299C>T	c.(298-300)gCg>gTg	p.A100V		NM_032623	NP_116012	Q8TDB4	CD049_HUMAN	Homo sapiens chromosome 4 open reading frame 49 (C4orf49), mRNA.	100						integral to membrane											CTCAGTTTCCGCAACATTCTC	0.413000														183			4		0	0	1	0	0
C3orf43	255798	broad.mit.edu	37	3	196234913	196234913	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:196234913C>T	uc003fws.3	-	2	647	c.490G>A	c.(490-492)Gat>Aat	p.D164N	C3orf43_uc003fwr.3_Missense_Mutation_p.D156N	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	Homo sapiens chromosome 3 open reading frame 43 (C3orf43), mRNA.	164						integral to membrane				NS(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	8	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00298)		AACGTGACATCCCTGATGTAC	0.463000														97			37		0	0	1	0	0
CCDC64B	146439	broad.mit.edu	37	16	3080524	3080524	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:3080524C>T	uc002ctf.4	-	3	733	c.688G>A	c.(688-690)Ggt>Agt	p.G230S	CCDC64B_uc002cte.4_Missense_Mutation_p.G23S|CCDC64B_uc010bta.1_3'UTR	NM_001103175	NP_001096645	A1A5D9	BICR2_HUMAN	Homo sapiens coiled-coil domain containing 64B (CCDC64B), mRNA.	230										breast(1)|endometrium(2)|large_intestine(1)	4						CTGCCCTCACCCTTCTCCACC	0.672000														5			13		0	0	1	0	0
TMEM214	54867	broad.mit.edu	37	2	27263260	27263261	+	Silent	DNP	GA	AC	AC			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:27263260_27263261GA>AC	uc002ria.4	+	15	1949_1950	c.1839_1840GA>AC	c.(1837-1842)ctgaga>ctACga	p.613_614LR>LR	TMEM214_uc002rib.4_Silent_p.568_569LR>LR	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	613						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCCGCTATCTGAGAGAGCTGCC	0.589000														105			55		0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25958930	25958930	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:25958930G>A	uc010ayu.3	-	9	2341	c.2235C>T	c.(2233-2235)gtC>gtT	p.V745V		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	745					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)		TCCTCTTGCGGACGGAATCGA	0.612000														16			46		0	0	1	0	0
SCN2B	6327	broad.mit.edu	37	11	118047137	118047137	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:118047137C>T	uc001psf.2	-	0	201	c.10G>A	c.(10-12)Gat>Aat	p.D4N		NM_004588	NP_004579	O60939	SCN2B_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, beta (SCN2B), mRNA.	4					synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		AGCCAGGCATCTCTGTGCATT	0.532000														31			49		0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36763661	36763662	+	Missense_Mutation	DNP	GG	AA	AA	rs142388741		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:36763661_36763662GG>AA	uc022abu.1	-	0	493_494	c.92_93CC>TT	c.(91-93)tcc>tTT	p.S31F	AOAH_uc003tfh.4_Missense_Mutation_p.S31F|AOAH_uc011kba.2_Missense_Mutation_p.S31F	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	31					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GGCTGGGCCTGGACTGGTCATC	0.495000														25			25		0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123165123	123165123	+	Silent	SNP	T	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:123165123T>C	uc004bkf.3	-	33	5449	c.5268A>G	c.(5266-5268)caA>caG	p.Q1756Q	CDK5RAP2_uc010mvi.3_Silent_p.Q765Q|CDK5RAP2_uc004bke.3_Silent_p.Q1041Q|CDK5RAP2_uc004bkg.3_Silent_p.Q1677Q|CDK5RAP2_uc011lxw.2_Silent_p.Q1021Q|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Silent_p.Q1021Q|CDK5RAP2_uc011lya.2_Silent_p.Q1021Q|CDK5RAP2_uc004bkh.1_Silent_p.Q1526Q	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	1756	Interaction with CDK5R1 (By similarity).|Interaction with PCNT and AKAP9.				G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGGGAGCCTCTTGGGTTTGAA	0.582000														32			26		0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95519079	95519079	+	RNA	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:95519079C>T	uc010fhp.3	-	2		c.266G>A						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						CGCCATGTTTCAGCAGAATAA	0.443000														136			90		0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009153	120009153	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:120009153G>A	uc011muc.2	-	0	627	c.372C>T	c.(370-372)ttC>ttT	p.F124F		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	124										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCAGGTACAGGAACACGAAGC	0.652000														18			29		0	0	1	0	0
ZNF846	162993	broad.mit.edu	37	19	9869117	9869117	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:9869117G>A	uc002mmb.1	-	5	1167	c.636C>T	c.(634-636)tcC>tcT	p.S212S	ZNF846_uc021uoq.1_Non-coding_Transcript|ZNF846_uc010dww.3_Silent_p.S83S|ZNF846_uc002mmc.1_Silent_p.S83S	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	Homo sapiens zinc finger protein 846 (ZNF846), mRNA.	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						GTAACTTAAGGGATGACTGAT	0.368000														44			28		0	0	1	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39418882	39418882	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:39418882C>G	uc003awt.4	+	1	480	c.73C>G	c.(73-75)Ccc>Gcc	p.P25A	APOBEC3D_uc021wpq.1_Missense_Mutation_p.P25A|APOBEC3D_uc010gxu.3_5'UTR|APOBEC3D_uc003awu.4_Missense_Mutation_p.P25A	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (APOBEC3D), mRNA.	25					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TGAAAACGAACCCATCCTCTA	0.522000														94			46		0	0	1	0	0
LOC283693	283693	broad.mit.edu	37	15	83395389	83395389	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:83395389G>A	uc002bjb.3	-	2	913	c.444C>T	c.(442-444)ttC>ttT	p.F148F						Homo sapiens actin, gamma pseudogene (LOC283693), non-coding RNA.																		CCATGCCCAGGAAGGAGGGCT	0.542000														3			14		0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52183738	52183738	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:52183738C>T	uc003jou.3	+	7	1279	c.865C>T	c.(865-867)Cga>Tga	p.R289*	ITGA1_uc003jov.3_Non-coding_Transcript	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	289	VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TGACAATCATCGACTGAAGAA	0.428000														61			33		0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47856301	47856301	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:47856301G>A	uc010xyn.2	+	1	363	c.14G>A	c.(13-15)aGa>aAa	p.R5K	DHX34_uc010elc.1_Missense_Mutation_p.R5K	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	5						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCTCCTCCTAGAACAAGGGAG	0.532000														27			14		0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5777438	5777438	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:5777438C>A	uc001iij.3	+	11	2001	c.1376C>A	c.(1375-1377)tCt>tAt	p.S459Y	FAM208B_uc001iik.3_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	459																	GTGAAGAAATCTCCACAAAAA	0.383000														109			68		1.35869e-18	1.38998e-18	1	1	0
FOXP1	27086	broad.mit.edu	37	3	71247488	71247488	+	Silent	SNP	G	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:71247488G>T	uc003dol.3	-	1	368	c.45C>A	c.(43-45)gcC>gcA	p.A15A	FOXP1_uc003dom.3_Silent_p.A15A|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Silent_p.A15A|FOXP1_uc003doo.3_Silent_p.A15A|FOXP1_uc003dop.3_Silent_p.A15A|FOXP1_uc021xao.1_Silent_p.A15A|FOXP1_uc003doq.1_Silent_p.A15A|FOXP1_uc003dos.3_Silent_p.A15A	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	15					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CATTCTGGATGGCTGAACCGT	0.577000			T	PAX5	ALL									112			84		4.90379e-48	5.05555e-48	1	1	0
USP15	9958	broad.mit.edu	37	12	62784970	62784970	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:62784970C>T	uc001src.2	+	15	2069	c.1994C>T	c.(1993-1995)tCc>tTc	p.S665F	USP15_uc001srb.2_Missense_Mutation_p.S636F	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	665					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GATGATGAATCCAGCCAGGAT	0.323000														41			32		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38149908	38149908	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:38149908C>T	uc003chp.1	+	20	3052	c.3031C>T	c.(3031-3033)Caa>Taa	p.Q1011*	DLEC1_uc003cho.1_Nonsense_Mutation_p.Q1011*|DLEC1_uc010hgv.1_Nonsense_Mutation_p.Q1011*|DLEC1_uc003chr.1_Nonsense_Mutation_p.Q117*|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	1011					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCTCGGACACCAAGCAGAATT	0.557000														23			10		0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44377627	44377627	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:44377627C>T	uc002oxs.4	-	1	730	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	Homo sapiens zinc finger protein 404 (ZNF404), mRNA.	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TCCCCACATTCCTTACATTCA	0.383000														58			40		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539327	55539327	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:55539327G>A	uc003xsd.1	+	3	3033	c.2885G>A	c.(2884-2886)gGa>gAa	p.G962E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	962					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACAAATTCTGGAAAAATAAGT	0.313000														50			36		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53657952	53657952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:53657952C>T	uc004dsp.3	-	11	1199	c.797G>A	c.(796-798)gGc>gAc	p.G266D		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	266					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATTAGAAAAGCCATGGGCCAG	0.378000														15			36		0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22804758	22804758	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:22804758G>A	uc002kvk.2	-	3	3371	c.3124C>T	c.(3124-3126)Cac>Tac	p.H1042Y	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.H1042Y|ZNF521_uc002kvl.2_Missense_Mutation_p.H822Y	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	1042					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTTTGCATGTGGAACGTCCCA	0.527000			T	PAX5	ALL									15			37		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195475813	195475813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:195475813C>T	uc021xjp.1	-	23	16150	c.15994G>A	c.(15994-15996)Gga>Aga	p.G5332R	MUC4_uc010hzq.3_Missense_Mutation_p.G189R|MUC4_uc003fuz.3_Missense_Mutation_p.G930R|MUC4_uc003fva.3_Missense_Mutation_p.G812R|MUC4_uc003fvb.3_Missense_Mutation_p.G848R|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.G848R|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Missense_Mutation_p.G841R|MUC4_uc021xjn.1_Missense_Mutation_p.G1021R|MUC4_uc021xjo.1_Missense_Mutation_p.G812R|MUC4_uc021xjg.1_Missense_Mutation_p.G812R|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.G896R|MUC4_uc021xjj.1_Missense_Mutation_p.G896R|MUC4_uc021xjk.1_Missense_Mutation_p.G1073R|MUC4_uc021xjl.1_Missense_Mutation_p.G812R|MUC4_uc003fvo.3_Missense_Mutation_p.G1096R|MUC4_uc003fvp.3_Missense_Mutation_p.G1045R	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	2089					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACTGGCCTCCATGGTCACAG	0.637000														53			14		0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45630083	45630083	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:45630083C>T	uc002xsm.3	+	2	500	c.126C>T	c.(124-126)gcC>gcT	p.A42A	EYA2_uc010ghp.3_Silent_p.A42A|EYA2_uc002xsq.3_Silent_p.A42A	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	42					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCAAATCGGCCCCCCTGAGAG	0.483000														53			32		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179470198	179470198	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:179470198C>T	uc021vsy.1	-	227	46345	c.46120G>A	c.(46120-46122)Gaa>Aaa	p.E15374K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E9069K|TTN_uc021vta.1_Missense_Mutation_p.E9002K|TTN_uc021vtb.1_Missense_Mutation_p.E8877K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16301	Ig-like 97.						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)			TCACCAATTTCATTGACAGCT	0.363000														64			27		0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47371546	47371546	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:47371546G>A	uc003crd.3	+	3	633	c.507G>A	c.(505-507)gaG>gaA	p.E169E	KLHL18_uc003crc.2_Silent_p.E169E|KLHL18_uc011bav.2_Silent_p.E57E|KLHL18_uc010hjq.2_Silent_p.E20E	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	169	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ACTTTGTGGAGGTGTCCATGT	0.537000														49			27		0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134239782	134239782	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:134239782C>T	uc003yub.3	+	4	1039	c.933C>T	c.(931-933)atC>atT	p.I311I	WISP1_uc003yuc.3_Silent_p.I224I|WISP1_uc010meb.3_Silent_p.I139I|WISP1_uc010mec.3_3'UTR|WISP1_uc010med.3_Silent_p.I66I|WISP1_uc003yud.3_Non-coding_Transcript	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	311	CTCK.				Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GGTGCTGCATCCCCTACAAGT	0.522000														71			49		0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118485072	118485072	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:118485072C>T	uc010jcl.1	+	17	3731	c.3550C>T	c.(3550-3552)Cct>Tct	p.P1184S	DMXL1_uc003ksd.2_Missense_Mutation_p.P1184S|DMXL1_uc021ycw.1_Missense_Mutation_p.P1011S	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1184										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CCTGGCATTTCCTCTCTGGGA	0.443000														115			110		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60889663	60889663	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:60889663T>A	uc002ycq.3	-	60	8382	c.8315A>T	c.(8314-8316)gAg>gTg	p.E2772V	LAMA5_uc021wfw.1_Missense_Mutation_p.E2772V	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	2772	Laminin G-like 1.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCCCAGGCTCAGGCTCTGG	0.647000														69			38		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631187	122631187	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:122631187G>A	uc003efz.1	-	18	3032	c.2728C>T	c.(2728-2730)Cgg>Tgg	p.R910W	SEMA5B_uc011bju.1_Intron|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.R910W|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	910	TSP type-1 4.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAAGCACCCCGAACTGCAAGG	0.647000														10			10		0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48429461	48429461	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:48429461C>T	uc001jfb.3	-	1	853	c.425G>A	c.(424-426)tGg>tAg	p.W142*	GDF10_uc009xnp.3_Nonsense_Mutation_p.W141*|GDF10_uc009xnq.2_Nonsense_Mutation_p.W142*	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	142					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CGCTCGAGGCCACCGAGGCGG	0.627000														34			23		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34059678	34059678	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:34059678G>A	uc003oir.4	-	1	1081	c.718C>T	c.(718-720)Cag>Tag	p.Q240*	GRM4_uc011dsn.2_Nonsense_Mutation_p.Q240*|GRM4_uc010jvh.3_Nonsense_Mutation_p.Q240*|GRM4_uc010jvi.3_Intron|GRM4_uc010jvk.1_Nonsense_Mutation_p.Q159*|GRM4_uc011dsl.2_Nonsense_Mutation_p.Q100*|GRM4_uc003oiq.3_Nonsense_Mutation_p.Q107*|GRM4_uc011dsm.2_Nonsense_Mutation_p.Q71*	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	240					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CGGGACTTCTGGATGAAGGCC	0.637000														24			13		0	0	1	0	0
ZRSR1	7310	broad.mit.edu	37	5	112228452	112228452	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:112228452G>A	uc021ycm.1	+	0	1144	c.1116G>A	c.(1114-1116)atG>atA	p.M372I	SRP19_uc011cvu.2_3'UTR|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Non-coding_Transcript|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron					RecName: Full=U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1; AltName: Full=CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 1; AltName: Full=U2(RNU2) small nuclear RNA auxiliary factor 1-like 1;											breast(1)|skin(1)|stomach(2)	4						GGGAGAAGATGGGCCACCACG	0.493000														42			20		0	0	1	0	0
SOCS3	9021	broad.mit.edu	37	17	76354748	76354748	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:76354748G>A	uc002jvl.2	-	1	845	c.429C>T	c.(427-429)ccC>ccT	p.P143P	SOCS3_uc021uee.1_Silent_p.P143P	NM_003955	NP_003946	O14543	SOCS3_HUMAN	Homo sapiens suppressor of cytokine signaling 3 (SOCS3), mRNA.	143					JAK-STAT cascade|anti-apoptosis|interferon-gamma-mediated signaling pathway|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			CCTCGGAGGAGGGTTCAGTAG	0.677000														47			22		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82508656	82508656	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:82508656C>T	uc003uhx.2	-	9	13940	c.13651G>A	c.(13651-13653)Gaa>Aaa	p.E4551K	PCLO_uc003uhv.2_Missense_Mutation_p.E4551K|PCLO_uc003uht.1_Missense_Mutation_p.E2K|PCLO_uc003uhu.1_5'UTR	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4440					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTTACCTTCCATAAGCTTC	0.378000														21			13		0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47410319	47410320	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr21:47410319_47410320GG>AA	uc002zhu.1	+	12	1087_1088	c.985_986GG>AA	c.(985-987)ggg>AAg	p.G329K		NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	329	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TGGCATCGACGGGGTGGACGGC	0.653000														32			12		0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107578495	107578495	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:107578495G>A	uc004bcl.3	-	24	4071	c.3667C>T	c.(3667-3669)Cat>Tat	p.H1223Y		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	1223					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCAATCTCATGAAAGAGTTCC	0.502000														152			111		0	0	1	0	0
LOC100128264	100128264	broad.mit.edu	37	7	154862852	154862852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:154862852C>T	uc011kvt.1	-	0	416	c.162G>A	c.(160-162)atG>atA	p.M54I	LOC100128264_uc003wlt.2_Missense_Mutation_p.M54I|HTR5A_uc003wlu.1_Silent_p.S81S					Homo sapiens uncharacterized LOC100128264 (LOC100128264), non-coding RNA.																		TGGTGGCATCCATGGCCGTCT	0.687000														31			14		0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39787157	39787157	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:39787157C>T	uc001wvi.4	+	16	1753	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	CTAGE5_uc010tqe.1_Missense_Mutation_p.R430W|CTAGE5_uc001wuy.4_Missense_Mutation_p.R388W|CTAGE5_uc001wuz.4_Missense_Mutation_p.R456W|CTAGE5_uc001wva.4_Missense_Mutation_p.R439W|CTAGE5_uc001wvb.4_Missense_Mutation_p.R439W|CTAGE5_uc001wvc.4_Missense_Mutation_p.R413W|CTAGE5_uc001wvf.4_Missense_Mutation_p.R393W|CTAGE5_uc001wvg.4_Missense_Mutation_p.R468W|CTAGE5_uc001wvh.4_Missense_Mutation_p.R468W|CTAGE5_uc010amz.3_Missense_Mutation_p.R84W|CTAGE5_uc001wvj.4_Missense_Mutation_p.R439W	NM_001247989	NP_001234918	O15320	CTGE5_HUMAN	Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA.	468							enzyme activator activity|protein binding		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		GTTGGCAGCTCGGAATGCTGA	0.249000														40			24		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121328221	121328221	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:121328221C>T	uc003yox.3	+	39	4909	c.4644C>T	c.(4642-4644)ggC>ggT	p.G1548G	COL14A1_uc003yoz.3_Silent_p.G513G	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1548	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GACGTGATGGCTCACCAGGCC	0.502000														26			15		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36483101	36483101	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:36483101C>T	uc002hpz.3	-	10	6372	c.6351G>A	c.(6349-6351)tgG>tgA	p.W2117*		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	2117						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTACCACTTCCCACAGACACA	0.587000														89			53		0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49958332	49958332	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:49958332C>T	uc004dow.1	-	4	1156	c.1032G>A	c.(1030-1032)atG>atA	p.M344I	AKAP4_uc004dou.1_Missense_Mutation_p.M335I|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.M166I	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	344	PKA-RI-alpha subunit binding domain (By similarity).				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	p.D343E(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GAGAGACCATCATGTCAGATG	0.483000														8			24		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34158635	34158635	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:34158635C>T	uc001bxm.1	-	24	4124	c.3947G>A	c.(3946-3948)aGa>aAa	p.R1316K	CSMD2_uc001bxn.1_Missense_Mutation_p.R1276K|CSMD2_uc001bxo.1_Missense_Mutation_p.R189K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1276	CUB 8.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACCTCTCCTCTCACTGTCCC	0.577000														33			71		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408294	10408294	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:10408294G>A	uc002gmo.3	-	21	2618	c.2524C>T	c.(2524-2526)Ccc>Tcc	p.P842S	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	842						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTGAGGAGGGGTTTGATCTTG	0.458000														69			53		0	0	1	0	0
STK38L	23012	broad.mit.edu	37	12	27467549	27467549	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:27467549C>T	uc001rhr.3	+	6	829	c.630C>T	c.(628-630)atC>atT	p.I210I	STK38L_uc010sjm.2_Silent_p.I117I|STK38L_uc010sjn.2_5'UTR|STK38L_uc010sjo.2_5'Flank	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	Homo sapiens serine/threonine kinase 38 like (STK38L), mRNA.	210	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	ATP binding|actin binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					TGGGTTTCATCCATCGGGATA	0.413000														40			23		0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46782007	46782007	+	Missense_Mutation	SNP	G	T	T	rs116998681	by1000genomes	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:46782007G>T	uc002eei.4	-	0	215	c.99C>A	c.(97-99)aaC>aaA	p.N33K	MYLK3_uc010vge.2_Intron	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	33					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CCACCTTCTCGTTCAGCATGT	0.582000														31			50		1.0442e-30	1.0734e-30	1	1	0
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:41790659T>G	uc010lxb.3	-	17	5623	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_uc010lxc.3_Silent_p.P1693P|KAT6A_uc003xon.4_Silent_p.P1693P	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	1693	Gln/Pro-rich.				histone H3 acetylation|myeloid cell differentiation|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 coactivator activity|transcription factor binding|zinc ion binding										ggggagggggtgggggtggag	0.627000														9			4		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56249692	56249692	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:56249692C>T	uc002qly.3	-	0	77	c.49G>A	c.(49-51)Gag>Aag	p.E17K		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	17	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTTCTGAGCTCCTTCAGATAC	0.448000														109			100		0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377655	138377655	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:138377655C>T	uc022bpi.1	+	0	1299	c.1299C>T	c.(1297-1299)acC>acT	p.T433T	PPP1R26_uc004cfr.1_Silent_p.T433T	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	433						nucleolus	protein binding										CCACCAAGACCATGGACCCTG	0.597000														26			22		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57254704	57254704	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:57254704G>A	uc001cym.4	-	2	1267	c.861C>T	c.(859-861)atC>atT	p.I287I	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Silent_p.I287I	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	287										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GGAGGTTCACGATGGGAGGTC	0.572000														93			48		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124283897	124283897	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:124283897G>A	uc001uft.4	+	12	1939	c.1914G>A	c.(1912-1914)atG>atA	p.M638I	DNAH10_uc010tav.1_Missense_Mutation_p.M180I|DNAH10_uc010taw.1_Missense_Mutation_p.M123I	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	638	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGCTCTCATGAAGAAGAGCC	0.498000														14			26		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189864227	189864227	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:189864227C>T	uc002uqj.1	+	30	2270	c.2153C>T	c.(2152-2154)gCt>gTt	p.A718V		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	718	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCACCTGGTGCTGCTGGTACT	0.448000														72			40		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325355	152325355	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:152325355C>T	uc001ezw.4	-	2	4980	c.4907G>A	c.(4906-4908)gGa>gAa	p.G1636E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1636							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGACTGTCCATGACCAGA	0.502000														244			171		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30349830	30349830	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:30349830G>A	uc002kxm.1	-	1	1113	c.725C>T	c.(724-726)tCc>tTc	p.S242F		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	242	BACK.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCACAGCACGGACATCTGGAA	0.677000														8			30		0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115783140	115783140	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:115783140G>A	uc003krx.4	-	19	3022	c.2313C>T	c.(2311-2313)gcC>gcT	p.A771A	SEMA6A_uc010jck.3_Silent_p.A754A|SEMA6A_uc011cwe.2_Silent_p.A133A|SEMA6A_uc003krv.4_Silent_p.A181A|SEMA6A_uc003krw.4_Silent_p.A231A|SEMA6A_uc010jcj.3_Silent_p.A298A	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	754					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGGTGGGGAGGGCCGTCAGGT	0.632000														222			106		0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202264132	202264132	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:202264132G>A	uc002uyb.4	-	4	894	c.448C>T	c.(448-450)Ctg>Ttg	p.L150L	TRAK2_uc002uyc.2_Silent_p.L150L	NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	150						early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						TGCTCCTCCAGGGATTCGTTC	0.398000														37			35		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5282926	5282926	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:5282926G>A	uc010zqw.2	-	1	923	c.915C>T	c.(913-915)ttC>ttT	p.F305F	PROKR2_uc010zqx.2_Silent_p.F305F|PROKR2_uc010zqy.2_Silent_p.F305F	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	305						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TTTCCTTCACGAACACAGTGG	0.537000										HNSCC(71;0.22)				56			48		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541018	55541018	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:55541018C>T	uc010ril.2	+	0	105	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TTTTCTTGTTCGTCTACACAG	0.398000														108			54		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140736453	140736453	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140736453C>T	uc003ljq.2	+	0	1686	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Silent_p.I562I	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	564	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCTGAGATCCTGTACCCCA	0.582000														401			61		0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47855834	47855834	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:47855834G>A	uc002xuh.3	+	15	2010	c.1949G>A	c.(1948-1950)aGg>aAg	p.R650K		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	650						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)			GAGCCCGAGAGGAGCTGGTTC	0.507000														22			17		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105150504	105150504	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:105150504G>A	uc004emd.3	+	10	1246	c.943G>A	c.(943-945)Gat>Aat	p.D315N	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	315							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ATTTGTTCGGGATATAAAAAA	0.338000										HNSCC(51;0.14)				5			5		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3441340	3441340	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:3441340C>T	uc003ggw.3	+	17	5177	c.4273C>T	c.(4273-4275)Cct>Tct	p.P1425S	RGS12_uc003ggz.3_Missense_Mutation_p.P777S|RGS12_uc003gha.3_Missense_Mutation_p.P767S|RGS12_uc010icv.3_Missense_Mutation_p.P624S|HGFAC_uc003ghc.3_5'Flank|HGFAC_uc010icw.3_5'Flank	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	1425						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATCAGACCTCCCTGGCTTGGG	0.692000														15			11		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967339	41967339	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:41967339G>A	uc010skn.2	+	9	2766	c.2758G>A	c.(2758-2760)Gaa>Aaa	p.E920K	PDZRN4_uc001rmq.4_Missense_Mutation_p.E662K|PDZRN4_uc009zjz.3_Missense_Mutation_p.E660K|PDZRN4_uc001rmr.3_Missense_Mutation_p.E547K	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	920							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAAGATCAAGGAAGAGCGGAG	0.527000														21			42		0	0	1	0	0
BLZF1	8548	broad.mit.edu	37	1	169351352	169351352	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:169351352T>G	uc001gfx.2	+	5	1287	c.850T>G	c.(850-852)Tcc>Gcc	p.S284A	BLZF1_uc001gfy.3_Missense_Mutation_p.S284A|BLZF1_uc009wvp.1_Intron	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN	Homo sapiens basic leucine zipper nuclear factor 1 (BLZF1), mRNA.	284					Golgi organization|Golgi to plasma membrane protein transport|cell proliferation|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					GCAAACTTACTCCCCTAGTGT	0.423000														100			58		0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52858225	52858225	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:52858225G>A	uc011bem.2	-	8	1180	c.1152C>T	c.(1150-1152)acC>acT	p.T384T	ITIH4_uc011bel.2_Silent_p.T114T|ITIH4_uc003dfy.3_Silent_p.T248T|ITIH4_uc003dfz.3_Silent_p.T384T|ITIH4_uc011ben.2_Silent_p.T384T	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	384	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGTCGCCATCGGTGAGCAGGA	0.632000														61			57		0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52605227	52605227	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:52605227G>A	uc002lfs.3	-	4	478	c.306C>T	c.(304-306)ctC>ctT	p.L102L	CCDC68_uc002lft.3_Silent_p.L102L	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	102								p.Q101Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TCATTTCTAAGAGCTGTAGGT	0.353000														11			17		0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10397970	10397970	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:10397970G>A	uc002mnr.2	+	0	328	c.282G>A	c.(280-282)ccG>ccA	p.P94P	ICAM4_uc002mns.2_Silent_p.P94P|ICAM4_uc002mnt.2_Silent_p.P94P|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	94	Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TCAGAGGGCCGGGTTGGGTGT	0.652000														46			3		0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	55999642	55999642	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:55999642C>T	uc010rjc.2	-	0	1020	c.1020G>A	c.(1018-1020)atG>atA	p.M340I		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	340					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ACATTTTTTTCATTGAGTCTT	0.333000														42			36		0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44777326	44777326	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:44777326T>G	uc021uvi.1	+	4	619	c.513T>G	c.(511-513)aaT>aaG	p.N171K	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_5'UTR|ZNF233_uc002oyz.2_Missense_Mutation_p.N171K	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN	Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GCATAAAAAATCAAGAGCTTC	0.408000														58			33		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118377096	118377097	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:118377096_118377097GG>AA	uc001pta.3	+	26	10503_10504	c.10480_10481GG>AA	c.(10480-10482)gga>AAa	p.G3494K	MLL_uc001ptb.3_Missense_Mutation_p.G3497K	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	3494					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TAATAGCATGGGACTGGAGCAG	0.545000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									34			65		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1546234	1546234	+	Silent	SNP	G	A	A	rs145095981		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:1546234G>A	uc002qwr.3	+	16	2876	c.2790G>A	c.(2788-2790)ccG>ccA	p.P930P	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Silent_p.P930P|TPO_uc002qwx.3_Silent_p.P873P|TPO_uc002qwu.3_Silent_p.P873P|TPO_uc010yio.2_Silent_p.P757P|TPO_uc010yip.2_Silent_p.P886P|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	930					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACAGGCTGCCGAGAGCCCTCT	0.493000														27			19		0	0	1	0	0
FAM111B	374393	broad.mit.edu	37	11	58892779	58892779	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:58892779G>A	uc001nnl.3	+	3	1452	c.1209G>A	c.(1207-1209)ccG>ccA	p.P403P	FAM111B_uc001nnm.3_Silent_p.P373P|FAM111B_uc010rko.2_Silent_p.P373P|FAM111B_uc021qjn.1_Silent_p.P373P	NM_198947	NP_001136176	Q6SJ93	F111B_HUMAN	Homo sapiens family with sequence similarity 111, member B (FAM111B), transcript variant 1, mRNA.	403							catalytic activity	p.P403P(4)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						ATCAGTATCCGAATTTTAAAG	0.358000														86			55		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158324277	158324277	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:158324277G>A	uc001fse.3	+	1	462	c.169G>A	c.(169-171)Gga>Aga	p.G57R	CD1E_uc010pid.2_Missense_Mutation_p.G55R|CD1E_uc010pie.2_Intron|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.G57R|CD1E_uc001fsf.3_Missense_Mutation_p.G57R|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Intron|CD1E_uc001fsj.3_Missense_Mutation_p.G57R|CD1E_uc001fsk.3_Missense_Mutation_p.G57R|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.G57R|CD1E_uc001frz.3_Missense_Mutation_p.G57R|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	57					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGAGGGCTCAGGATGGCTGGG	0.562000														69			41		0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65304507	65304507	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:65304507G>C	uc001oea.1	+	13	1944	c.1867G>C	c.(1867-1869)Ggc>Cgc	p.G623R	SCYL1_uc009yqk.3_Missense_Mutation_p.G623R|SCYL1_uc001oeb.1_Splice_Site_p.G606_splice|SCYL1_uc001oec.1_Missense_Mutation_p.G623R|SCYL1_uc001oee.1_Missense_Mutation_p.G267R	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.	623					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	COPI vesicle coat|ER-Golgi intermediate compartment|cis-Golgi network|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						TACAACCTCAGGCCACTGGGA	0.642000														68			6		0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39728057	39728057	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:39728057C>T	uc002hxe.4	-	0	254	c.188G>A	c.(187-189)aGg>aAg	p.R63K	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	63	Head.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	p.G62E(1)		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)				ACCGCCTCCCCTCCCACAGAC	0.612000														17			15		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57828169	57828169	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:57828169G>A	uc002yan.3	+	3	4164	c.4164G>A	c.(4162-4164)agG>agA	p.R1388R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1388						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)					GAATTGTCAGGGAAATGGACA	0.463000														93			43		0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139428746	139428746	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:139428746C>T	uc002tvi.3	-	1	541	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K		NM_007226	NP_009157	O95156	NXPH2_HUMAN	Homo sapiens neurexophilin 2 (NXPH2), mRNA.	181	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GATTTGGATTCCTTGGTCTCC	0.473000														25			14		0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141335515	141335515	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:141335515G>A	uc003llx.3	-	0	3113	c.1902C>T	c.(1900-1902)ccC>ccT	p.P634P		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	634	Cadherin 6.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGTAGAGGGGCTCTCCAT	0.567000														69			34		0	0	1	0	0
TMEM229B	161145	broad.mit.edu	37	14	67940434	67940434	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:67940434G>A	uc001xjk.3	-	2	617	c.207C>T	c.(205-207)ggC>ggT	p.G69G	TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Silent_p.G69G	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.	69						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCGGGCAGCGGCCGCGCAGCC	0.637000														5			8		0	0	1	0	0
PRKRIP1	79706	broad.mit.edu	37	7	102036926	102036926	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:102036926T>A	uc011kkr.1	+	0	123	c.68T>A	c.(67-69)aTc>aAc	p.I23N	PRKRIP1_uc011kkq.1_Intron|PRKRIP1_uc003uzh.2_Missense_Mutation_p.I23N			Q9H875	PKRI1_HUMAN	Homo sapiens PRKR interacting protein 1 (IL11 inducible) (PRKRIP1), mRNA.	23	Interaction with EIF2AK2 (By similarity).					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						ACGCTCGTCATCCCCAAGAAT	0.672000														39			25		0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107413865	107413865	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:107413865C>T	uc004enw.4	-	34	3573	c.3470G>A	c.(3469-3471)gGa>gAa	p.G1157E	COL4A6_uc004env.4_Missense_Mutation_p.G1156E|COL4A6_uc011msn.2_Missense_Mutation_p.G1156E|COL4A6_uc010npk.3_Missense_Mutation_p.G1156E	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1157	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCGGGGGATCCTAGAGGCCC	0.498000									Alport syndrome with Diffuse Leiomyomatosis					84			161		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10914379	10914379	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr21:10914379G>A	uc002yip.1	-	20	1708	c.1340C>T	c.(1339-1341)tCa>tTa	p.S447L	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.S429L|TPTE_uc002yir.1_Missense_Mutation_p.S409L|TPTE_uc010gkv.1_Missense_Mutation_p.S309L	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	447	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTCCTAATGAAATAGTGGA	0.328000														25			13		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2582822	2582822	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:2582822C>T	uc002wgf.1	+	10	1303	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C	TMC2_uc002wgg.1_Missense_Mutation_p.R414C|TMC2_uc010zpw.1_Missense_Mutation_p.R262C|TMC2_uc010zpx.1_Missense_Mutation_p.R261C	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	430						integral to membrane		p.R430H(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAGATTTCTTCGTGTCCTGGC	0.388000														46			37		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38945876	38945876	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:38945876G>A	uc002oit.3	+	14	1571	c.1441_splice	c.e14-1	p.G481_splice	RYR1_uc002oiu.3_Splice_Site_p.G481_splice	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	481					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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)	TCATCCTAGGGGATGCTCTCC	0.502000											OREG0005269	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=RYR1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		94			41		0	0	1	0	0
ASNA1	439	broad.mit.edu	37	19	12856446	12856446	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:12856446C>T	uc002muv.3	+	3	496	c.482C>T	c.(481-483)tCg>tTg	p.S161L		NM_004317	NP_004308	O43681	ASNA_HUMAN	Homo sapiens arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) (ASNA1), mRNA.	161					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	ATP binding|arsenite-transporting ATPase activity|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	ATGAACTTCTCGGTGGTGGTA	0.657000														50			51		0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38925239	38925239	+	Missense_Mutation	SNP	C	T	T	rs138784431		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:38925239C>T	uc002hvf.3	-	5	1125	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	360	Coil 2.|Rod.					intermediate filament	structural molecule activity	p.R360*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TGTTTCTGTTCGAATCTGTTG	0.383000														32			30		0	0	1	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42396404	42396404	+	Silent	SNP	T	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:42396404T>G	uc002orx.3	+	5	436	c.327T>G	c.(325-327)gtT>gtG	p.V109V	ARHGEF1_uc002orw.1_Silent_p.V109V|ARHGEF1_uc002ory.3_Silent_p.V76V|ARHGEF1_uc002orz.3_5'UTR|ARHGEF1_uc002osa.3_Silent_p.V124V|ARHGEF1_uc002osb.3_Silent_p.V91V	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 1 (ARHGEF1), transcript variant 2, mRNA.	109	RGSL.				Rho protein signal transduction|cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TTGAGCAGGTTCTCCGGGTGC	0.612000														138			73		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17052416	17052416	+	Silent	SNP	A	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:17052416A>G	uc011awc.2	+	2	1650	c.1554A>G	c.(1552-1554)aaA>aaG	p.K518K	PLCL2_uc010het.1_3'UTR|PLCL2_uc011awd.2_Silent_p.K400K	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	526	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GTTCCATTAAACAACAGAAGG	0.368000														27			16		0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120306804	120306804	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:120306804A>C	uc001eid.3	-	1	638	c.550T>G	c.(550-552)Tcc>Gcc	p.S184A	HMGCS2_uc010oxj.2_Missense_Mutation_p.S184A|HMGCS2_uc021osx.1_Missense_Mutation_p.S92A	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	184					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CCATCCCAGGAACTGGACTCC	0.493000														44			37		0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46976370	46976370	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:46976370C>T	uc003gxg.3	-	5	1583	c.600G>A	c.(598-600)atG>atA	p.M200I	GABRA4_uc021xnz.1_Missense_Mutation_p.M181I|GABRA4_uc021xoa.1_Missense_Mutation_p.M181I	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	200					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.M200I(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGGTATAGATCATCTCACTCT	0.403000														56			16		0	0	1	0	0
SH2B2	10603	broad.mit.edu	37	7	101952183	101952183	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:101952183C>T	uc011kko.2	+	3	1092	c.1047C>T	c.(1045-1047)gaC>gaT	p.D349D		NM_020979	NP_066189	O14492	SH2B2_HUMAN	Homo sapiens SH2B adaptor protein 2 (SH2B2), mRNA.	306					blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						GCTGCGTGGACCCCGGGTGAG	0.597000														142			67		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21235041	21235041	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:21235041C>T	uc002red.3	-	25	4827	c.4699G>A	c.(4699-4701)Gag>Aag	p.E1567K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1567					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAAGTCAGCTCGTAGTTCTCA	0.418000														42			21		0	0	1	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85147237	85147237	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:85147237G>A	uc002bkr.3	+	1	305	c.79G>A	c.(79-81)Gag>Aag	p.E27K	ZSCAN2_uc002bkp.3_Missense_Mutation_p.E27K|ZSCAN2_uc002bkq.3_Missense_Mutation_p.E27K|ZSCAN2_uc010bmz.1_Missense_Mutation_p.E26K|ZSCAN2_uc010bna.3_Intron|ZSCAN2_uc010uoz.1_Missense_Mutation_p.E26K|ZSCAN2_uc010uox.1_Missense_Mutation_p.E26K|ZSCAN2_uc010uoy.1_Missense_Mutation_p.E26K	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	Homo sapiens zinc finger and SCAN domain containing 2 (ZSCAN2), transcript variant 1, mRNA.	27					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		AGATAGACAGGAGGAGGAGGT	0.587000														6			59		0	0	1	0	0
MATN3	4148	broad.mit.edu	37	2	20205860	20205860	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:20205860G>A	uc002rdl.3	-	1	498	c.435C>T	c.(433-435)tcC>tcT	p.S145S	MATN3_uc010exu.1_Silent_p.S145S	NM_002381	NP_002372	O15232	MATN3_HUMAN	Homo sapiens matrilin 3 (MATN3), mRNA.	145	VWFA.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGCTTCAGGGACTGCTTAT	0.572000														33			23		0	0	1	0	0
EIF3K	27335	broad.mit.edu	37	19	39114828	39114828	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:39114828C>G	uc002oiz.1	+	2	457	c.270C>G	c.(268-270)gaC>gaG	p.D90E	EIF3K_uc010xuh.2_Missense_Mutation_p.D90E	NM_013234	NP_037366	Q9UBQ5	EIF3K_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit K (EIF3K), mRNA.	90					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity		EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCATGATCGACCAGGCACATG	0.587000														43			18		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189917479	189917479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:189917479G>A	uc002uqk.3	-	39	2986	c.2711C>T	c.(2710-2712)cCg>cTg	p.P904L	COL5A2_uc010frx.3_Missense_Mutation_p.P480L	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	904					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACTTACAGGCGGACCTTGGGT	0.408000														22			14		0	0	1	0	0
C11orf87	399947	broad.mit.edu	37	11	109294853	109294853	+	Missense_Mutation	SNP	C	T	T	rs143230091	by1000genomes	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:109294853C>T	uc021qqf.1	+	0	494	c.494C>T	c.(493-495)cCg>cTg	p.P165L	C11orf87_uc010rwb.2_Missense_Mutation_p.P165L	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN	Homo sapiens chromosome 11 open reading frame 87 (C11orf87), mRNA.	165						integral to membrane		p.P165L(2)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						TGTGCTCCTCCGCCTCCACCG	0.657000														36			29		0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749249	51749250	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:51749249_51749250GG>AC	uc010hlv.3	+	3	1699_1700	c.1460_1461GG>AC	c.(1459-1461)tgg>tAC	p.W487Y	GRM2_uc003dbo.4_5'UTR|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	487					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CTCATCCCATGGGCCTCACCCT	0.634000														10			11		0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73152280	73152280	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:73152280C>T	uc004aid.3	-	24	3957	c.3713G>A	c.(3712-3714)aGa>aAa	p.R1238K	TRPM3_uc004ahu.3_Missense_Mutation_p.R1080K|TRPM3_uc004ahv.3_Missense_Mutation_p.R1040K|TRPM3_uc004ahw.3_Missense_Mutation_p.R1110K|TRPM3_uc004ahx.3_Missense_Mutation_p.R1097K|TRPM3_uc004ahy.3_Missense_Mutation_p.R1100K|TRPM3_uc004ahz.3_Missense_Mutation_p.R1087K|TRPM3_uc004aia.3_Missense_Mutation_p.R1085K|TRPM3_uc004aib.3_Missense_Mutation_p.R1075K|TRPM3_uc004aic.3_Missense_Mutation_p.R1238K	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1263						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGAGTGCTCTCTCTCGTTGAC	0.602000														8			26		0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715383	68715383	+	Silent	SNP	C	T	T	rs142002229		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:68715383C>T	uc003jwq.3	+	1	245	c.171C>T	c.(169-171)ttC>ttT	p.F57F	MARVELD2_uc010ixf.3_Silent_p.F57F|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	57					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		AGCCACCATTCGGCCCAGACT	0.522000														46			63		0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150275209	150275209	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:150275209G>A	uc021yfx.1	-	6	2068	c.1640C>T	c.(1639-1641)tCt>tTt	p.S547F	ZNF300_uc021yfy.1_Missense_Mutation_p.S531F|ZNF300_uc021yfz.1_Missense_Mutation_p.S495F	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGACTTCTGAGAGAAGGCTTT	0.448000														44			21		0	0	1	0	0
ACAD9	28976	broad.mit.edu	37	3	128598594	128598594	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:128598594G>A	uc003ela.4	+	0	262	c.60G>A	c.(58-60)ctG>ctA	p.L20L	ACAD9_uc010hsw.1_5'UTR|ACAD9_uc011bks.2_5'UTR|ACAD9_uc003elb.3_5'UTR	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 9 (ACAD9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	20						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						GCCGGGGTCTGGTGGTCTCTA	0.642000														67			70		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84606122	84606122	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:84606122C>T	uc004amn.3	+	3	784	c.737C>T	c.(736-738)cCc>cTc	p.P246L		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	246	Pro-rich.					integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						CTTCCCTTTCCCCTTCTCCCA	0.542000														77			174		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133257804	133257804	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:133257804C>T	uc001uks.1	-	1	168	c.124G>A	c.(124-126)Gat>Aat	p.D42N	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.D42N	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	42					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCCATCTTATCCGTCCACTGA	0.517000								DNA polymerases (catalytic subunits)						30			56		0	0	1	0	0
UPK1B	7348	broad.mit.edu	37	3	118905613	118905613	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:118905613C>T	uc003ecc.3	+	1	114	c.25C>T	c.(25-27)Cgt>Tgt	p.R9C	UPK1B_uc011bix.2_Intron|UPK1B_uc003ecd.3_Missense_Mutation_p.R9C	NM_006952	NP_008883	O75841	UPK1B_HUMAN	Homo sapiens uroplakin 1B (UPK1B), mRNA.	9					epithelial cell differentiation	integral to membrane	structural molecule activity	p.V8A(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		CTCAACTGTTCGTTGCTTCCA	0.393000														50			21		0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131768868	131768868	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:131768868A>G	uc004bws.1	+	43	5183	c.5161A>G	c.(5161-5163)Aag>Gag	p.K1721E		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	1721					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCCGCAGGGCAAGTCCACCTC	0.612000											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		99			81		0	0	1	0	0
RRAGA	10670	broad.mit.edu	37	9	19049678	19049678	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:19049678G>A	uc003znj.3	+	0	307	c.21G>A	c.(19-21)aaG>aaA	p.K7K		NM_006570	NP_006561	Q7L523	RRAGA_HUMAN	Homo sapiens Ras-related GTP binding A (RRAGA), mRNA.	7					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|positive regulation of cytolysis|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						CAGCCATGAAGAAAAAGGTGC	0.667000														4			15		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193209159	193209159	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:193209159C>T	uc003ftd.3	-	5	670	c.562G>A	c.(562-564)Gat>Aat	p.D188N	ATP13A4_uc003fte.1_Missense_Mutation_p.D188N|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	188					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ACTTCAACATCGATAGTATTA	0.363000														70			32		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5485360	5485360	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:5485360G>A	uc002gci.3	-	2	1026	c.471C>T	c.(469-471)taC>taT	p.Y157Y	NLRP1_uc002gcg.1_Silent_p.Y157Y|NLRP1_uc002gch.4_Silent_p.Y157Y|NLRP1_uc002gck.3_Silent_p.Y157Y|NLRP1_uc002gcj.3_Silent_p.Y157Y|NLRP1_uc002gcl.3_Silent_p.Y157Y|NLRP1_uc010clh.3_Silent_p.Y157Y	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	157					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GAAGAGCTTGGTAGAGGAGTG	0.483000														20			13		0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52827652	52827652	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:52827652C>G	uc001saj.2	-	0	459	c.437G>C	c.(436-438)cGg>cCg	p.R146P		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	146	Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CTCCTCGGCCCGCACCCGCTG	0.587000														114			73		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153588910	153588910	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:153588910G>A	uc004fkk.2	-	21	3502	c.3253C>T	c.(3253-3255)Ccc>Tcc	p.P1085S	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.P1085S	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1085					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGCGGGCGGGGGAGCCCGCA	0.687000											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		12			43		0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102337987	102337987	+	Silent	SNP	T	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:102337987T>C	uc004eju.3	-	6	707	c.636A>G	c.(634-636)caA>caG	p.Q212Q	NXF3_uc010noi.1_Silent_p.Q62Q|NXF3_uc011mrw.1_Silent_p.Q212Q|NXF3_uc011mrx.1_Silent_p.Q123Q	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	212						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.N211N(1)		NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CATCACACTGTTGGTTCATGG	0.507000														70			187		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32676119	32676119	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:32676119C>T	uc001utx.3	+	2	786	c.290C>T	c.(289-291)tCt>tTt	p.S97F	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTGACAAAATCTCTGCAACGT	0.328000														49			39		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100654466	100654466	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:100654466C>T	uc003yiv.3	+	33	5834	c.5723C>T	c.(5722-5724)cCt>cTt	p.P1908L	VPS13B_uc003yiw.3_Missense_Mutation_p.P1883L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1908					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTTCTTTTCCTTCAGGGAAA	0.438000														128			81		0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64722321	64722321	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:64722321C>T	uc010nko.3	+	4	1810	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	570							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCCTAACCTCTGTTCTGACA	0.468000														3			14		0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49666134	49666134	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:49666134C>T	uc003ozn.2	-	6	594	c.358G>A	c.(358-360)Gat>Aat	p.D120N	CRISP2_uc003ozr.2_Missense_Mutation_p.D120N|CRISP2_uc003ozo.2_Missense_Mutation_p.D120N|CRISP2_uc003ozm.2_Missense_Mutation_p.D120N|CRISP2_uc003ozp.2_Missense_Mutation_p.D120N|CRISP2_uc003ozq.2_Missense_Mutation_p.D120N|CRISP2_uc003ozl.2_Missense_Mutation_p.D120N	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	120						extracellular space		p.D120H(2)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TAGACAAAATCTAGGATCTCG	0.423000														67			59		0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161683033	161683033	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:161683033C>T	uc001gbe.3	+	5	1254	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	FCRLA_uc001gbg.3_Missense_Mutation_p.P192S|FCRLA_uc009wup.3_Missense_Mutation_p.P148S|FCRLA_uc009wuq.3_Missense_Mutation_p.P97S|FCRLA_uc001gbd.3_Missense_Mutation_p.P332S|FCRLA_uc001gbf.3_Missense_Mutation_p.P243S|FCRLA_uc009wuo.3_Missense_Mutation_p.P198S	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	315					cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GATGCCAGATCCTCATCTGTA	0.567000														82			33		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124824946	124824947	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:124824946_124824947GG>AA	uc021rga.1	-	35	5519_5520	c.5402_5403CC>TT	c.(5401-5403)tcc>tTT	p.S1801F	NCOR2_uc021rgb.1_Missense_Mutation_p.S1785F|NCOR2_uc010tbb.2_Missense_Mutation_p.S1794F|NCOR2_uc010tbc.2_Missense_Mutation_p.S1784F|NCOR2_uc021rgc.1_Missense_Mutation_p.S1784F|NCOR2_uc010tba.2_Missense_Mutation_p.S1802F|NCOR2_uc010tax.2_5'Flank	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1802					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTCCCGCTCGGACGAGGACGT	0.619000														8			26		0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280471	105280471	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:105280471C>A	uc010npd.3	-	0	814	c.579G>T	c.(577-579)aaG>aaT	p.K193N	SERPINA7_uc004eme.2_Missense_Mutation_p.K193N|SERPINA7_uc010npe.2_Missense_Mutation_p.K193N	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	193					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.L192L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGTGTTTGGCTTGAGGTCTT	0.428000														111			4		1	1	1	1	0
NEUROD4	58158	broad.mit.edu	37	12	55420715	55420715	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:55420715G>A	uc001sgp.4	+	1	870	c.492G>A	c.(490-492)caG>caA	p.Q164Q	NEUROD4_uc021qyr.1_Silent_p.Q164Q	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	164					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GGCTCTCTCAGCCCACAAGCA	0.522000														46			33		0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98383006	98383006	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:98383006C>T	uc002syh.4	-	33	4737	c.4508G>A	c.(4507-4509)aGc>aAc	p.S1503N		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1503						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						AGGAATCTTGCTTGGGAGATT	0.383000														84			50		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141734623	141734623	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:141734623C>T	uc003vwy.3	+	15	1995	c.1941C>T	c.(1939-1941)aaC>aaT	p.N647N		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	647	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGAGTTCAACCTTTTTGGCA	0.502000														39			16		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61597289	61597289	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:61597289G>A	uc010xev.2	+	5	591	c.501G>A	c.(499-501)caG>caA	p.Q167Q	SERPINB2_uc010xew.2_Silent_p.Q167Q	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	182					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GTAAAATCCAGAATCTCCTGC	0.378000														9			22		0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361077	107361077	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:107361077G>A	uc011lvp.2	-	0	618	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GTGTCAATAGGAACAATGTTG	0.398000														139			84		0	0	1	0	0
ELF5	2001	broad.mit.edu	37	11	34502425	34502425	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:34502425C>T	uc001mvo.1	-	5	825	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	ELF5_uc021qft.1_Missense_Mutation_p.E121K|ELF5_uc001mvp.2_Missense_Mutation_p.E189K|ELF5_uc009ykd.2_Missense_Mutation_p.E94K	NM_198381	NP_001413	Q9UKW6	ELF5_HUMAN	Homo sapiens E74-like factor 5 (ets domain transcription factor) (ELF5), transcript variant 1, mRNA.	199					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				ATTCCTTGTTCCCTATCTTCC	0.428000														86			54		0	0	1	0	0
CBLN2	147381	broad.mit.edu	37	18	70205419	70205419	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:70205419G>A	uc002lku.2	-	3	902	c.667C>T	c.(667-669)Cct>Tct	p.P223S	CBLN2_uc002lkv.2_Missense_Mutation_p.P223S	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	Homo sapiens cerebellin 2 precursor (CBLN2), mRNA.	223	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GTTTATAGAGGAAACACCAAG	0.507000														14			46		0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900818	123900818	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:123900818C>T	uc001pzp.1	+	0	489	c.489C>T	c.(487-489)ttC>ttT	p.F163F		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TATTGACTTTCCATTTGCCCT	0.552000														145			79		0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8947244	8947244	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:8947244C>T	uc001mhb.4	-	4	1094	c.970G>A	c.(970-972)Gag>Aag	p.E324K	C11orf16_uc001mhc.4_Missense_Mutation_p.E324K	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	Homo sapiens chromosome 11 open reading frame 16 (C11orf16), mRNA.	324										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GCTACTTTCTCCTCTTTAGGA	0.552000														80			52		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112630426	112630426	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:112630426G>A	uc021reb.1	-	58	9224	c.8828C>T	c.(8827-8829)cCc>cTc	p.P2943L		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						AGCGGTGGGGGGAGGTGCAAG	0.617000														3			16		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7619900	7619900	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:7619900C>T	uc010xjq.2	+	23	3026	c.2786C>T	c.(2785-2787)tCg>tTg	p.S929L	PNPLA6_uc002mgq.2_Missense_Mutation_p.S881L|PNPLA6_uc010xjp.2_Missense_Mutation_p.S854L|PNPLA6_uc002mgr.2_Missense_Mutation_p.S881L|PNPLA6_uc002mgs.3_Missense_Mutation_p.S919L	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	920			R -> H (in SPG39).		cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGCTGGTGCTCGGGGCACCTG	0.711000														15			10		0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98254427	98254427	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:98254427C>T	uc003upl.2	+	2	1014	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	279	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CCAACGAGATCGTGCTGATCG	0.637000														70			54		0	0	1	0	0
TSC22D4	81628	broad.mit.edu	37	7	100074963	100074963	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:100074963G>A	uc003uva.3	-	1	1454	c.699C>T	c.(697-699)tcC>tcT	p.S233S	TSC22D4_uc011kjv.2_5'UTR|TSC22D4_uc010lgx.3_Silent_p.S233S|TSC22D4_uc003uvc.4_Silent_p.S233S	NM_030935	NP_112197	Q9Y3Q8	T22D4_HUMAN	Homo sapiens TSC22 domain family, member 4 (TSC22D4), mRNA.	233					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTTCCTCCGGGACAGTGGAG	0.672000														43			38		0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29256359	29256359	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:29256359C>A	uc010ezl.3	+	15	2506	c.2155C>A	c.(2155-2157)Ccc>Acc	p.P719T	FAM179A_uc010ymm.2_Missense_Mutation_p.P664T|FAM179A_uc002rmr.4_Missense_Mutation_p.P246T|FAM179A_uc002rms.1_Missense_Mutation_p.P17T	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	719							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGATGAACTTCCCTCTGCCAA	0.517000														19			6		0.00307968	0.00309711	1	1	0
PVRL4	81607	broad.mit.edu	37	1	161042633	161042634	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:161042633_161042634CC>TT	uc001fxo.2	-	8	1649_1650	c.1350_1351GG>AA	c.(1348-1353)acggtg>acAAtg	p.V451M	ARHGAP30_uc001fxk.3_5'Flank|ARHGAP30_uc001fxl.3_5'Flank|ARHGAP30_uc001fxm.3_5'Flank|ARHGAP30_uc009wtx.3_5'Flank|ARHGAP30_uc001fxn.1_5'Flank|PVRL4_uc010pjy.1_Missense_Mutation_p.V105M|PVRL4_uc010pjz.1_Missense_Mutation_p.V160M	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	451					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ATCTCCCTCACCGTGGTCAGCG	0.584000														21			18		0	0	1	0	0
SLC35D3	340146	broad.mit.edu	37	6	137245829	137245829	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:137245829C>T	uc003qhe.3	+	1	1411	c.1246C>T	c.(1246-1248)Cct>Tct	p.P416S		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA.	416					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GTTACCCAGTCCTTGAGAAGG	0.408000														13			41		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64593991	64593991	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:64593991G>A	uc001obs.4	-	35	4550	c.4550C>T	c.(4549-4551)tCt>tTt	p.S1517F		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1517					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GCAGGACACAGACTCGCTGGA	0.572000														11			9		0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150931682	150931682	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:150931682C>T	uc003eyr.1	-	2	901	c.423G>A	c.(421-423)ctG>ctA	p.L141L	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY14_uc003eys.1_Silent_p.L141L|P2RY14_uc021xfz.1_Silent_p.L141L	NM_001081455	NP_055694	Q15391	P2Y14_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 14 (P2RY14), transcript variant 1, mRNA.	141						integral to membrane|plasma membrane	UDP-activated nucleotide receptor activity|purinergic nucleotide receptor activity, G-protein coupled	p.L140P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTATCACTGACAGAAGTTTGC	0.388000														53			28		0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9407499	9407499	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:9407499G>A	uc002mlc.1	-	4	581	c.581C>T	c.(580-582)tCc>tTc	p.S194F		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	Homo sapiens zinc finger protein 699 (ZNF699), mRNA.	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCATTCACAGGATTTTACTTC	0.403000														99			42		0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50131270	50131271	+	Missense_Mutation	DNP	AT	TG	TG			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:50131270_50131271AT>TG	uc003cyg.3	+	3	476_477	c.301_302AT>TG	c.(301-303)atg>TGg	p.M101W	RBM6_uc010hlf.2_Non-coding_Transcript|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript|RBM5_uc003cyf.3_Missense_Mutation_p.M101W|RBM5_uc011bdj.2_Missense_Mutation_p.M45W|RBM5_uc011bdk.2_5'UTR	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	101	RRM 1.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAAGACCATCATGCTGCGCGGC	0.500000														77			56		0	0	1	0	0
KHNYN	23351	broad.mit.edu	37	14	24901602	24901602	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:24901602C>T	uc010tpc.2	+	2	1274	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	KHNYN_uc001wph.4_Missense_Mutation_p.R379W|KHNYN_uc010alw.3_Missense_Mutation_p.R379W|CBLN3_uc001wpg.4_5'Flank	NM_015299	NP_056114	O15037	KHNYN_HUMAN	Homo sapiens KH and NYN domain containing (KHNYN), mRNA.	379										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTGCGGAGACCGGGGAGACGT	0.687000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			32		0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8399673	8399673	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:8399673C>T	uc001apb.3	+	6	1895	c.1895C>T	c.(1894-1896)tCg>tTg	p.S632L	SLC45A1_uc001apc.3_Missense_Mutation_p.S330L	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	632					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGTCCTGTCGCTCTGCATA	0.557000														40			101		0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39522860	39522860	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:39522860G>A	uc002hwl.3	-	2	495	c.450C>T	c.(448-450)tcC>tcT	p.S150S		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	150	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GCTGCCGCAGGGACTGCTCCG	0.547000														52			40		0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17539639	17539639	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:17539639C>T	uc003ncb.3	+	7	1019	c.776C>T	c.(775-777)tCa>tTa	p.S259L	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.S233L|CAP2_uc011djb.2_Missense_Mutation_p.S195L|CAP2_uc011djc.2_Missense_Mutation_p.S147L|CAP2_uc011djd.2_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	259					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TCTTCTCCTTCACGCTCAGCT	0.527000														78			53		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51915022	51915022	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:51915022G>A	uc003pah.1	-	21	2488	c.2212C>T	c.(2212-2214)Cct>Tct	p.P738S	PKHD1_uc003pai.3_Missense_Mutation_p.P738S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	738					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TAGACCGGAGGGGATCCCACC	0.557000											OREG0017493	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		60			29		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35129938	35129938	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:35129938C>T	uc003teq.1	-	20	2354	c.1247G>A	c.(1246-1248)aGa>aAa	p.R416K	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		TCACTTAGTTCTCACAACACA	0.318000														97			55		0	0	1	0	0
RASD2	23551	broad.mit.edu	37	22	35947705	35947705	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:35947705G>A	uc003anx.3	+	2	632	c.427G>A	c.(427-429)Gac>Aac	p.D143N	RASD2_uc003any.3_Missense_Mutation_p.D143N	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	143					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CAACAAGAACGACCACGGCGA	0.622000														51			21		0	0	1	0	0
LOC440518	440518	broad.mit.edu	37	19	22784227	22784227	+	RNA	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:22784227C>T	uc002nqu.4	+	5		c.661C>T								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		CATGGCTCTCCCTGAGGAAGG	0.587000														14			4		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19451749	19451749	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:19451749G>A	uc002dgc.4	+	2	1138	c.389G>A	c.(388-390)gGa>gAa	p.G130E	TMC5_uc010vaq.2_Missense_Mutation_p.G130E|TMC5_uc002dgb.4_Missense_Mutation_p.G130E|TMC5_uc010var.2_Missense_Mutation_p.G130E	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	130						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GACTACCCTGGATCTCAACGA	0.493000														74			185		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75980210	75980210	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:75980210C>T	uc002baw.3	-	2	3289	c.3196G>A	c.(3196-3198)Ggc>Agc	p.G1066S		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1066	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACGATACTGCCAAAGAGGAGG	0.627000														22			81		0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38509602	38509602	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:38509602G>A	uc003auy.1	-	14	2230	c.2094C>T	c.(2092-2094)tcC>tcT	p.S698S	PLA2G6_uc003auz.1_Silent_p.S644S|PLA2G6_uc003ava.1_Silent_p.S698S|PLA2G6_uc003avb.2_Silent_p.S644S|PLA2G6_uc010gxk.1_Non-coding_Transcript|BAIAP2L2_uc003auw.3_5'Flank|PLA2G6_uc003aux.1_Missense_Mutation_p.P90S	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	698					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GCACTTGTGGGGACCTCCCTG	0.582000														96			33		0	0	1	0	0
C14orf133	63894	broad.mit.edu	37	14	77920439	77920439	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:77920439G>A	uc001xtt.2	-	2	424	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	C14orf133_uc001xtu.2_Missense_Mutation_p.R3W|C14orf133_uc001xtv.2_Missense_Mutation_p.R3W|C14orf133_uc021rwu.1_Missense_Mutation_p.R3W|C14orf133_uc010tvj.2_Missense_Mutation_p.R3W	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA.	3					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding							Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCCTTTGTCCGATTCATCTAC	0.453000														35			17		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82456635	82456635	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:82456635C>T	uc001dit.4	+	20	4199	c.4018C>T	c.(4018-4020)Ccc>Tcc	p.P1340S	LPHN2_uc001dis.3_Missense_Mutation_p.P320S|LPHN2_uc001diu.3_Missense_Mutation_p.P1340S|LPHN2_uc001div.3_3'UTR|LPHN2_uc009wcd.3_3'UTR|LPHN2_uc001diw.3_Missense_Mutation_p.P967S	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1396					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.P1340H(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGACCTCTCTCCCTCCAGGAG	0.502000														66			40		0	0	1	0	0
LMCD1	29995	broad.mit.edu	37	3	8590328	8590329	+	Missense_Mutation	DNP	CC	TT	TT	rs145385804	by1000genomes	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:8590328_8590329CC>TT	uc003bqq.3	+	3	576_577	c.462_463CC>TT	c.(460-465)cgccgc>cgTTgc	p.R155C	LMCD1_uc011atd.2_Missense_Mutation_p.R82C|LMCD1_uc011ate.2_Missense_Mutation_p.R43C|LMCD1_uc011atf.1_Missense_Mutation_p.R82C	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	Homo sapiens LIM and cysteine-rich domains 1 (LMCD1), mRNA.	155	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		TTTACCGCCGCCGCCAGCTCAT	0.559000														125			53		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20067021	20067021	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:20067021C>T	uc001umd.3	-	3	299	c.88G>A	c.(88-90)Gga>Aga	p.G30R	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.G30R|TPTE2_uc001ume.3_Missense_Mutation_p.G30R|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	30						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AGGGCTGCTCCTTTAAATTCA	0.373000														194			21		0	0	1	0	0
RIN2	54453	broad.mit.edu	37	20	19937298	19937298	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:19937298G>A	uc002wro.2	+	3	494	c.345G>A	c.(343-345)gaG>gaA	p.E115E	RIN2_uc010gcu.2_Silent_p.E66E|RIN2_uc010gcv.2_5'UTR	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	66	SH2.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CCGAGGAAGAGGACGTGAAGA	0.572000														17			11		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445796	150445796	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:150445796C>T	uc009wlr.3	+	10	4573	c.4372C>T	c.(4372-4374)Cct>Tct	p.P1458S	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Missense_Mutation_p.P1432S	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	1458	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCCATTCTTCCCTCCCAGGTA	0.443000														75			32		0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180348047	180348047	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:180348047G>A	uc002unn.4	-	5	1226	c.622C>T	c.(622-624)Ccc>Tcc	p.P208S	ZNF385B_uc002unj.3_Missense_Mutation_p.P106S|ZNF385B_uc002unl.3_Missense_Mutation_p.P105S|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Missense_Mutation_p.P132S	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	208						nucleus	nucleic acid binding|zinc ion binding	p.P208P(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GAGCAGCTGGGATTAGCCTTT	0.438000														38			33		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45860758	45860758	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr21:45860758G>A	uc010gpt.1	+	31	4606	c.4506G>A	c.(4504-4506)caG>caA	p.Q1502Q	TRPM2_uc002zet.1_Silent_p.Q1452Q|TRPM2_uc002zeu.1_Silent_p.Q1452Q|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.Q1452Q|TRPM2_uc002zex.1_Silent_p.Q1238Q|TRPM2_uc002zey.1_Silent_p.Q931Q|TRPM2_uc011aff.1_Silent_p.Q133Q	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1452						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCCAGGACCAGAATGACGTGG	0.632000														93			44		0	0	1	0	0
LGALS13	29124	broad.mit.edu	37	19	40093217	40093217	+	Silent	SNP	T	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:40093217T>A	uc002omb.3	+	0	49	c.9T>A	c.(7-9)tcT>tcA	p.S3S		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA.	3					lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CAATGTCTTCTTTACCCGTGA	0.403000														53			37		0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152818550	152818550	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:152818550G>A	uc004fht.1	+	10	2007	c.1881G>A	c.(1879-1881)cgG>cgA	p.R627R	ATP2B3_uc004fhs.1_Silent_p.R627R	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	627					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCGGGACCGGGACGACATGG	0.627000														14			33		0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103572848	103572848	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:103572848G>A	uc003ykt.2	+	1	597	c.489G>A	c.(487-489)tcG>tcA	p.S163S		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA.	163					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GCCTTGGATCGAAAAAGTACA	0.493000														50			35		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73076500	73076500	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:73076500G>A	uc010izf.3	+	7	1017	c.841_splice	c.e7-1	p.A281_splice	RGNEF_uc011csq.2_Splice_Site_p.A281_splice|RGNEF_uc003kcy.1_Splice_Site_p.A281_splice|RGNEF_uc021yam.1_Splice_Site_p.A281_splice	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	281					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TTGTTTCCTAGGCCTTTGAGC	0.448000														4			3		0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9450702	9450702	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:9450702C>A	uc001mho.3	+	13	1692	c.1550C>A	c.(1549-1551)gCt>gAt	p.A517D		NM_006391	NP_006382	O95373	IPO7_HUMAN	Homo sapiens importin 7 (IPO7), mRNA.	517					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	Ran GTPase binding|protein transporter activity|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AAAGTGGAAGCTGCCATTGCC	0.408000														64			42		6.45866e-13	6.56959e-13	1	1	0
OR6X1	390260	broad.mit.edu	37	11	123624625	123624625	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:123624625G>A	uc010rzy.2	-	0	602	c.602C>T	c.(601-603)aCc>aTc	p.T201I		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CACAAGGATGGTTGCTATGAC	0.453000														80			66		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760924	92760924	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:92760924G>A	uc003umh.1	-	4	5577	c.4361C>T	c.(4360-4362)tCc>tTc	p.S1454F	SAMD9L_uc003umj.1_Missense_Mutation_p.S1454F|SAMD9L_uc003umi.1_Missense_Mutation_p.S1454F|SAMD9L_uc010lfb.1_Missense_Mutation_p.S1454F|SAMD9L_uc003umk.1_Missense_Mutation_p.S1454F|SAMD9L_uc010lfc.1_Missense_Mutation_p.S1454F|SAMD9L_uc010lfd.1_Missense_Mutation_p.S1454F|SAMD9L_uc022ahh.1_Missense_Mutation_p.S1454F	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1454								p.S1454P(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTATTTAAGGATGAAACATA	0.428000														146			75		0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17226659	17226659	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:17226659C>T	uc010hev.3	-	20	2124	c.1860G>A	c.(1858-1860)caG>caA	p.Q620Q	TBC1D5_uc010heu.3_Silent_p.Q185Q|TBC1D5_uc003cbf.3_Silent_p.Q598Q|TBC1D5_uc003cbe.3_Silent_p.Q598Q|TBC1D5_uc010hew.1_Silent_p.Q572Q	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	598						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GGTCATTCAACTGCCCTTGAA	0.383000														48			31		0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120739	47120740	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:47120739_47120740GG>AA	uc001wwg.3	-	0	289_290	c.200_201CC>TT	c.(199-201)gcc>gTT	p.A67V		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	67					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						AAATACGGGCGGCCTCCAGGGC	0.510000														53			33		0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4443223	4443224	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:4443223_4443224GG>AT	uc002fxz.4	-	25	3535_3536	c.3473_3474CC>AT	c.(3472-3474)ccc>cAT	p.P1158H	MYBBP1A_uc002fyb.4_Missense_Mutation_p.P1158H|SPNS2_uc002fxx.2_3'UTR|SPNS2_uc002fxy.2_3'UTR|MYBBP1A_uc002fya.4_Missense_Mutation_p.P103H|MYBBP1A_uc010vsa.2_Missense_Mutation_p.P200H	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	1158	Required for nuclear and nucleolar localization (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGGTGGCACTGGGGATCTCCTT	0.579000														133			77		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106130743	106130743	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:106130743G>A	uc001kyh.3	+	6	1155	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	341								p.E341*(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GCACCACACCGAAGATCAAAA	0.393000														8			23		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21757460	21757460	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:21757460G>A	uc001rfb.3	-	0	322	c.67C>T	c.(67-69)Ctt>Ttt	p.L23F		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	23					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCCACAGGAAGTTCTTCGACT	0.498000														74			49		0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48343058	48343058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:48343058C>T	uc002phq.4	+	3	938	c.734C>T	c.(733-735)tCc>tTc	p.S245F		NM_000554	NP_000545	O43186	CRX_HUMAN	Homo sapiens cone-rod homeobox (CRX), mRNA.	245					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GTGGGACCTTCCCTGGCCCAG	0.637000														205			107		0	0	1	0	0
METTL21B	25895	broad.mit.edu	37	12	58174276	58174276	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:58174276C>T	uc001sqg.3	+	2	653	c.528C>T	c.(526-528)atC>atT	p.I176I	TSFM_uc021qzq.1_5'Flank|METTL21B_uc001sqf.3_3'UTR|METTL21B_uc009zqd.3_Non-coding_Transcript|TSFM_uc001sqh.3_5'Flank|TSFM_uc001sqi.3_5'Flank|TSFM_uc010ssf.2_5'Flank|TSFM_uc010sse.2_5'Flank	NM_015433	NP_056248	Q96AZ1	MT21B_HUMAN	Homo sapiens methyltransferase like 21B (METTL21B), transcript variant 1, mRNA.	176						integral to membrane|intracellular	methyltransferase activity			endometrium(1)|lung(1)	2						ATGGCACCATCTATCTGGCCT	0.587000														29			15		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83933329	83933329	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:83933329C>T	uc002bjt.1	-	3	762	c.674G>A	c.(673-675)gGa>gAa	p.G225E	BNC1_uc010uos.1_Missense_Mutation_p.G213E	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	225					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GCTGGGGTTTCCTTTGTCCAC	0.498000														18			139		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119739040	119739040	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:119739040T>A	uc004bjt.2	-	6	1564	c.1463A>T	c.(1462-1464)tAt>tTt	p.Y488F	ASTN2_uc022bml.1_Missense_Mutation_p.Y188F|ASTN2_uc022bmm.1_Missense_Mutation_p.Y188F	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	539						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GTCAGGGGCATAGCCTTCATG	0.493000														35			11		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103173935	103173935	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:103173935C>T	uc001phn.1	+	76	11374	c.11230C>T	c.(11230-11232)Ctt>Ttt	p.L3744F	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.L3737F	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	3737	AAA 6 (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTCTCAGGAACTTCAAGAACT	0.418000														39			18		0	0	1	0	0
PPM1L	151742	broad.mit.edu	37	3	160786795	160786795	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:160786795A>C	uc003fdr.3	+	3	1034	c.933A>C	c.(931-933)gaA>gaC	p.E311D	PPM1L_uc003fds.3_Missense_Mutation_p.E132D|PPM1L_uc003fdt.3_Missense_Mutation_p.E184D|PPM1L_uc010hwf.3_Non-coding_Transcript	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA.	311	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TCAGCAATGAAGAAGCAGTTC	0.473000														64			32		0	0	1	0	0
AIM2	9447	broad.mit.edu	37	1	159033452	159033452	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:159033452T>C	uc001ftj.1	-	4	1074	c.829A>G	c.(829-831)Aag>Gag	p.K277E		NM_004833	NP_004824	O14862	AIM2_HUMAN	Homo sapiens absent in melanoma 2 (AIM2), mRNA.	277	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					ATGTTTTTCTTCTTTTCTGTT	0.398000														59			42		0	0	1	0	0
NDRG2	57447	broad.mit.edu	37	14	21490272	21490272	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:21490272A>G	uc001vyy.3	-	5	443	c.293T>C	c.(292-294)gTt>gCt	p.V98A	NDRG2_uc010tll.2_Missense_Mutation_p.V94A|NDRG2_uc001vyt.3_Missense_Mutation_p.V11A|NDRG2_uc001vyu.3_Missense_Mutation_p.V84A|NDRG2_uc001vyv.3_Missense_Mutation_p.V84A|NDRG2_uc001vyw.3_Missense_Mutation_p.V84A|NDRG2_uc001vzb.3_Missense_Mutation_p.V38A|NDRG2_uc001vyx.3_Missense_Mutation_p.V98A|NDRG2_uc001vza.3_Missense_Mutation_p.V84A|NDRG2_uc001vyz.3_Missense_Mutation_p.V84A|NDRG2_uc001vzc.3_Missense_Mutation_p.V84A|NDRG2_uc010aig.3_Missense_Mutation_p.V98A|NDRG2_uc001vze.3_Missense_Mutation_p.V98A|NDRG2_uc001vzd.3_Missense_Mutation_p.V98A|NDRG2_uc001vzg.3_Missense_Mutation_p.V84A|NDRG2_uc001vzf.3_Missense_Mutation_p.V84A	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	Homo sapiens NDRG family member 2 (NDRG2), transcript variant 7, mRNA.	98					cell differentiation|nervous system development	Golgi apparatus|centrosome|cytosol|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ATCCACATGAACCCGCACAAA	0.488000														62			38		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228846444	228846444	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:228846444C>T	uc002vpq.2	-	11	5139	c.5092G>A	c.(5092-5094)Gaa>Aaa	p.E1698K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1669K|SPHKAP_uc010zlx.1_3'UTR	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1698						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TATCCCAGTTCCAAGAGCCAG	0.428000														51			37		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117376191	117376191	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:117376191C>T	uc001prh.1	-	8	2222	c.2220G>A	c.(2218-2220)cgG>cgA	p.R740R		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	680	Ig-like C2-type 8.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCTGGCGCTCCCGGCTCACGG	0.602000														19			35		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706414	96706415	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:96706414_96706415GG>AA	uc010how.1	+	2	734_735	c.691_692GG>AA	c.(691-693)gga>AAa	p.G231K	EPHA6_uc003drp.1_Missense_Mutation_p.G231K	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	136						integral to plasma membrane	ATP binding|ephrin receptor activity	p.G137*(2)|p.G231*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGAGTCCCACGGAATTAAATTC	0.401000														155			71		0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48511956	48511956	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:48511956G>A	uc002pht.3	+	1	210	c.32G>A	c.(31-33)tGg>tAg	p.W11*		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	11					single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CTGTTGGGATGGACAACCTTC	0.483000														15			9		0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908033	103908034	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:103908033_103908034GG>AA	uc001phr.2	+	0	726_727	c.483_484GG>AA	c.(481-486)aaggaa>aaAAaa	p.E162K	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	162					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCCTGCTCAAGGAACGCAACCC	0.619000														68			31		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157475611	157475611	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:157475611G>A	uc003wno.3	-	12	1928	c.1807C>T	c.(1807-1809)Ctg>Ttg	p.L603L	PTPRN2_uc003wnp.3_Silent_p.L586L|PTPRN2_uc003wnq.3_Silent_p.L574L|PTPRN2_uc003wnr.3_Silent_p.L565L|PTPRN2_uc011kwa.2_Silent_p.L626L	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	603						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGAGGAGGCAGGAACTTGAGT	0.547000														29			16		0	0	1	0	0
RPS6KB1	6198	broad.mit.edu	37	17	58009056	58009056	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:58009056C>T	uc002ixy.3	+	6	764	c.661C>T	c.(661-663)Ccg>Tcg	p.P221S	RPS6KB1_uc010ddj.2_Missense_Mutation_p.P221S|RPS6KB1_uc010wom.2_Missense_Mutation_p.P168S|RPS6KB1_uc010won.2_Missense_Mutation_p.P198S|RPS6KB1_uc010woo.2_Missense_Mutation_p.P156S	NM_003161	NP_003152	P23443	KS6B1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 70kDa, polypeptide 1 (RPS6KB1), mRNA.	221	Protein kinase.				G1/S transition of mitotic cell cycle|TOR signaling cascade|apoptosis|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			AGACCTGAAGCCGGAGAATAT	0.383000														34			16		0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27442117	27442117	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:27442117C>T	uc002hdt.1	-	14	2477	c.2319_splice	c.e14-1	p.R773_splice	MYO18A_uc010wbc.1_Splice_Site_p.R315_splice|MYO18A_uc002hds.2_Splice_Site_p.R315_splice|MYO18A_uc010csa.1_Splice_Site_p.R773_splice|MYO18A_uc002hdu.1_Splice_Site_p.R773_splice|MYO18A_uc010wbd.1_Splice_Site_p.R442_splice	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	773	Myosin head-like.				DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ACTTGAGAGCCCTGGATAGGG	0.657000														14			11		0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96425206	96425206	+	Silent	SNP	G	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:96425206G>T	uc004aub.3	+	12	1863	c.1716G>T	c.(1714-1716)ctG>ctT	p.L572L	PHF2_uc011lug.1_Silent_p.L455L|PHF2_uc004auc.3_5'UTR	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	572	Lys-rich.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AGAGTGTCCTGAGTGTGCCCA	0.502000														21			58		9.53978e-28	9.78769e-28	1	1	0
CACNA1A	773	broad.mit.edu	37	19	13397435	13397435	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:13397435G>A	uc002mwy.3	-	19	3671	c.3435C>T	c.(3433-3435)atC>atT	p.I1145I	CACNA1A_uc010dzc.2_Silent_p.I671I|CACNA1A_uc010xnd.2_Silent_p.I1148I|CACNA1A_uc021ups.1_Silent_p.I1145I|CACNA1A_uc010xne.2_Silent_p.I1148I|CACNA1A_uc010dze.2_Silent_p.I1145I|CACNA1A_uc021upt.1_Silent_p.I1146I	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1146					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGTTGGTGACGATAAGGCTAT	0.662000														25			13		0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054860	29054860	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:29054860G>A	uc003nlx.3	-	0	231	c.166C>T	c.(166-168)Cat>Tat	p.H56Y		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						ATGGGAGTATGAAGTTTGGGA	0.393000														106			50		0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60785401	60785401	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:60785401C>T	uc001nqq.3	+	10	1978	c.1753C>T	c.(1753-1755)Ccc>Tcc	p.P585S	CD6_uc001nqp.3_Missense_Mutation_p.P585S|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.P553S|CD6_uc001nqt.3_Missense_Mutation_p.P544S	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	585					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TCCATGGAACCCCCAGGTGTT	0.582000														87			44		0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55758928	55758928	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:55758928C>T	uc010spk.2	+	0	34	c.34C>T	c.(34-36)Ctt>Ttt	p.L12F		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						AGACTTTATTCTTCTTGGATT	0.343000														118			79		0	0	1	0	0
NDUFB7	4713	broad.mit.edu	37	19	14676960	14676961	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:14676960_14676961GG>AT	uc002mzg.3	-	2	475_476	c.398_399CC>AT	c.(397-399)ccc>cAT	p.P133H		NM_004146	NP_004137	P17568	NDUB7_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa (NDUFB7), nuclear gene encoding mitochondrial protein, mRNA.	133					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8					NADH(DB00157)	GGGCCACCTTGGGGTCCACTTC	0.634000														7			6		0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147821638	147821638	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:147821638T>G	uc003lpf.1	+	21	3615	c.3495T>G	c.(3493-3495)ttT>ttG	p.F1165L	FBXO38_uc003lpg.1_Missense_Mutation_p.F1090L|FBXO38_uc003lph.2_Missense_Mutation_p.F920L	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	1165						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGTGTATTTCAGCGAGTAG	0.418000														67			64		0	0	1	0	0
MFSD7	84179	broad.mit.edu	37	4	676658	676658	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:676658G>A	uc003gay.3	-	8	1233	c.1176C>T	c.(1174-1176)atC>atT	p.I392I	MFSD7_uc003gaw.3_Silent_p.I134I|MFSD7_uc003gax.3_Silent_p.I391I|MFSD7_uc003gaz.3_Silent_p.I273I	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.	392					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						TTGCCAGCATGATGAGTATTC	0.632000														9			12		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41010175	41010175	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:41010175C>T	uc003jmj.4	-	30	3632	c.3142G>A	c.(3142-3144)Gag>Aag	p.E1048K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E603K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1048							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CCTAAGATCTCCAATAGCTAA	0.418000														56			18		0	0	1	0	0
SPARC	6678	broad.mit.edu	37	5	151047129	151047129	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:151047129C>G	uc003lui.3	-	6	589	c.484G>C	c.(484-486)Gaa>Caa	p.E162Q	SPARC_uc003lug.3_5'UTR	NM_003118	NP_003109	P09486	SPRC_HUMAN	Homo sapiens secreted protein, acidic, cysteine-rich (osteonectin) (SPARC), mRNA.	162					ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	AGGGGGAATTCGGTCAGCTCA	0.617000														38			18		0	0	1	0	0
SYNPR	132204	broad.mit.edu	37	3	63600994	63600994	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:63600994C>T	uc003dlp.3	+	5	991	c.695C>T	c.(694-696)tCa>tTa	p.S232L	SYNPR_uc011bfk.2_Non-coding_Transcript|SYNPR_uc011bfl.2_Non-coding_Transcript|SYNPR_uc003dlq.3_Missense_Mutation_p.S212L|SYNPR_uc010hnt.3_Missense_Mutation_p.S221L|SYNPR_uc011bfm.2_Non-coding_Transcript	NM_001130003	NP_001123475	Q8TBG9	SYNPR_HUMAN	Homo sapiens synaptoporin (SYNPR), transcript variant 1, mRNA.	212	5 X approximate repeats.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		AGATATCTTTCAGATCCAATG	0.468000														31			9		0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13670534	13670534	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:13670534G>A	uc011avc.2	+	11	3081	c.2699G>A	c.(2698-2700)gGg>gAg	p.G900E	FBLN2_uc011auz.2_Missense_Mutation_p.G879E|FBLN2_uc011avb.2_Missense_Mutation_p.G853E|FBLN2_uc011ava.2_Missense_Mutation_p.G900E	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	896	EGF-like 6; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGCGATGATGGGACCAAGTGT	0.687000														24			13		0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086224	56086224	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:56086224C>T	uc010rjf.2	+	0	442	c.442C>T	c.(442-444)Cct>Tct	p.P148S		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GGTAGCAATCCCTTACCTCTA	0.428000														53			34		0	0	1	0	0
SCAMP4	113178	broad.mit.edu	37	19	1917808	1917808	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:1917808C>T	uc002luj.3	+	2	230	c.123C>T	c.(121-123)taC>taT	p.Y41Y	SCAMP4_uc002lui.1_Silent_p.Y41Y|SCAMP4_uc002luk.3_Silent_p.Y41Y|SCAMP4_uc010dss.3_5'UTR	NM_079834	NP_524558	Q969E2	SCAM4_HUMAN	Homo sapiens secretory carrier membrane protein 4 (SCAMP4), mRNA.	41					protein transport	integral to membrane							Ovarian(11;2.11e-07)|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)		AGAGGATCTACCGGCTGTGGA	0.652000														10			21		0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154543971	154543971	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:154543971C>T	uc001ffg.3	+	4	936	c.672C>T	c.(670-672)atC>atT	p.I224I		NM_000748	NP_000739	P17787	ACHB2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 2 (neuronal) (CHRNB2), mRNA.	224					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	ACGTGGACATCACGTATGACT	0.582000														84			47		0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154555396	154555396	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:154555396C>T	uc010ipp.3	+	32	4433	c.4381C>T	c.(4381-4383)Cca>Tca	p.P1461S	KIAA0922_uc003inm.4_Missense_Mutation_p.P1460S|KIAA0922_uc010ipq.3_Missense_Mutation_p.P1229S	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	1460						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)				CGCATACTGTCCATTGGAATT	0.423000														94			30		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650561	94650561	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:94650561T>C	uc001dqj.4	-	17	2345	c.1976A>G	c.(1975-1977)cAt>cGt	p.H659R	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.H225R	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	659					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AAGTTTCTGATGACCACAAAT	0.333000														46			15		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137676919	137676919	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:137676919C>T	uc004cfe.3	+	29	2951	c.2569C>T	c.(2569-2571)Cct>Tct	p.P857S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	857	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.G856R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGACCCCGGTCCTCTGGGACC	0.642000														37			28		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7561561	7561561	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:7561561C>T	uc003src.1	-	4	851	c.734G>A	c.(733-735)gGa>gAa	p.G245E	COL28A1_uc011jxe.1_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	245	Collagen-like 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ACCTGGATCTCCCTTCTCACA	0.383000														25			26		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72130978	72130978	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:72130978C>T	uc004ahh.2	-	1	1425	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	383	LIN-2/CASK binding.|Pro-rich.				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						GGCTAATGTCCTGGCGCATGA	0.617000														25			78		0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962477	69962477	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:69962477C>T	uc003heg.4	+	0	285	c.239C>T	c.(238-240)tCt>tTt	p.S80F	UGT2B7_uc010ihq.3_Missense_Mutation_p.S80F	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	80					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TATCCCACATCTTTAACTAAA	0.363000														38			37		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212755	62212755	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:62212755C>T	uc003xuh.3	+	1	693	c.369C>T	c.(367-369)atC>atT	p.I123I	CLVS1_uc003xug.2_Silent_p.I123I|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	123	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.I123M(2)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GGGCTCTGATCGATGGGTTCC	0.488000														45			29		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39103614	39103614	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:39103614C>T	uc003xmt.4	+	16	2076	c.1831C>T	c.(1831-1833)Cgt>Tgt	p.R611C	ADAM32_uc011lch.2_Missense_Mutation_p.R512C|ADAM32_uc003xmu.4_Missense_Mutation_p.R505C|ADAM32_uc003xmv.3_Missense_Mutation_p.R35C	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	611					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TTGTGTAAATCGTGAATGTGT	0.343000														11			16		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882025	228882025	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:228882025G>C	uc002vpq.2	-	6	3592	c.3545C>G	c.(3544-3546)tCt>tGt	p.S1182C	SPHKAP_uc002vpp.2_Missense_Mutation_p.S1182C|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1182C	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1182						cytoplasm	protein binding	p.P1181S(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGACTGCTTAGAGGGACAGCT	0.542000														73			50		0	0	1	0	0
PDE12	201626	broad.mit.edu	37	3	57545484	57545484	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:57545484A>G	uc003diw.4	+	2	1709	c.1583A>G	c.(1582-1584)gAa>gGa	p.E528G	PDE12_uc003div.3_3'UTR	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	Homo sapiens phosphodiesterase 12 (PDE12), mRNA.	528							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		GGGGAGGAGGAAAGATGCAAT	0.418000														50			50		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459847	142459847	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:142459847C>T	uc003wak.2	+	2	440	c.423C>T	c.(421-423)atC>atT	p.I141I	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.I81I	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	141	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AGTGCCTCATCTCTGGCTGGG	0.567000														77			47		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076527	9076527	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:9076527G>A	uc002mkp.3	-	2	11123	c.10919C>T	c.(10918-10920)aCc>aTc	p.T3640I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3641	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACCAGGCTGGTTCCAATGAC	0.458000														48			38		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46060340	46060340	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:46060340C>T	uc003gxb.3	-	6	962	c.810G>A	c.(808-810)atG>atA	p.M270I		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	270					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R269K(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TGAAATATCCCATTCTTCTGC	0.328000														29			22		0	0	1	0	0
SIX6	4990	broad.mit.edu	37	14	60976584	60976584	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:60976584C>A	uc001xfa.4	+	0	647	c.468C>A	c.(466-468)agC>agA	p.S156R		NM_007374	NP_031400	O95475	SIX6_HUMAN	Homo sapiens SIX homeobox 6 (SIX6), mRNA.	156					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		CTAACCCCAGCAAAAAACGTG	0.602000														25			3		1	1	1	1	0
POMT2	29954	broad.mit.edu	37	14	77743784	77743784	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:77743784G>A	uc001xti.2	-	20	2389	c.2188C>T	c.(2188-2190)Ccc>Tcc	p.P730S	POMT2_uc001xth.1_Missense_Mutation_p.P428S	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA.	730					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		TGGGCCAGGGGACCAACCATC	0.587000														45			29		0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58725426	58725426	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:58725426G>A	uc002iyt.2	+	3	1232	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	334	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GGACCAAGAGGAGAAAAAATA	0.378000														56			25		0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180432442	180432442	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:180432442G>A	uc003mmr.3	+	7	1155	c.971G>A	c.(970-972)aGa>aAa	p.R324K	BTNL3_uc010jlp.3_Missense_Mutation_p.R109K	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	324	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TCTGAGAAGAGATTTACAAGG	0.512000														82			44		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123451944	123451944	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:123451944C>T	uc003ego.3	-	10	1597	c.1315G>A	c.(1315-1317)Ggg>Agg	p.G439R	MYLK_uc011bjw.2_Missense_Mutation_p.G439R|MYLK_uc003egp.3_Intron|MYLK_uc003egq.3_Missense_Mutation_p.G439R|MYLK_uc003egr.3_Intron|MYLK_uc003egs.3_Missense_Mutation_p.G263R	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	439	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.G439E(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTTGGAATCCCGGAAACTACA	0.562000														15			7		0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2577838	2577838	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:2577838C>T	uc010uwc.2	+	4	577	c.480C>T	c.(478-480)ctC>ctT	p.L160L	AMDHD2_uc002cqp.3_Silent_p.L160L|AMDHD2_uc002cqq.3_Silent_p.L160L|AMDHD2_uc010uwd.2_5'UTR	NM_001145815	NP_001139287	Q9Y303	NAGA_HUMAN	Homo sapiens amidohydrolase domain containing 2 (AMDHD2), transcript variant 2, mRNA.	160					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						AGGCCCACCTCCGCTCCTTCG	0.697000														8			18		0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11319449	11319449	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:11319449G>A	uc002mqs.4	-	38	5042	c.5001C>T	c.(4999-5001)ccC>ccT	p.P1667P	DOCK6_uc002mqr.4_Silent_p.P65P|DOCK6_uc010xlq.2_Silent_p.P1006P	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	1667	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.P1667P(2)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCTCCTCGTCGGGCGACAGGA	0.627000														50			35		0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173352513	173352513	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:173352513G>A	uc002uhp.1	+	16	2505	c.2302G>A	c.(2302-2304)Gat>Aat	p.D768N	ITGA6_uc010zdy.1_Missense_Mutation_p.D649N|ITGA6_uc002uho.1_Missense_Mutation_p.D768N|ITGA6_uc010fqm.1_Missense_Mutation_p.D414N	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	807					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CCCAGATCTGGATATTAATCT	0.363000														45			26		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28823694	28823695	+	Nonsense_Mutation	DNP	CC	GT	GT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:28823694_28823695CC>GT	uc002rmb.2	+	35	2537_2538	c.2493_2494CC>GT	c.(2491-2496)gtccaa>gtGTaa	p.Q832*	PLB1_uc010ezj.2_Nonsense_Mutation_p.Q821*|PLB1_uc002rme.2_5'Flank	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	832	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGAGCCAAGTCCAaactctgat	0.421000														47			40		0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34025252	34025252	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:34025252C>T	uc010gfc.1	-	0	698	c.457G>A	c.(457-459)Ggg>Agg	p.G153R	GDF5_uc002xck.1_Missense_Mutation_p.G153R	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	153					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CGTGGGGGCCCGGGCTCCCTG	0.632000														82			57		0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53201466	53201466	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:53201466G>A	uc001saz.3	-	6	1530	c.1530C>T	c.(1528-1530)atC>atT	p.I510I		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	436						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GGTAGGTGGCGATCTCGATGT	0.597000														106			60		0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205027704	205027704	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:205027704G>A	uc001hbr.3	+	4	669	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	CNTN2_uc001hbq.1_Missense_Mutation_p.E25K|CNTN2_uc009xbi.3_Missense_Mutation_p.E25K|CNTN2_uc001hbs.3_5'Flank	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	134	Ig-like C2-type 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGTTCTGCAGGAATTCTCCAA	0.602000														37			25		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104667	168104667	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:168104667G>A	uc002udx.3	+	8	6854	c.6765G>A	c.(6763-6765)atG>atA	p.M2255I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.M2080I|XIRP2_uc010fpq.3_Missense_Mutation_p.M2033I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2080					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACTTTCTAATGAAAACAAATA	0.373000														63			35		0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392334	178392334	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:178392334T>G	uc003mjo.2	+	4	1230	c.929T>G	c.(928-930)gTg>gGg	p.V310G	ZNF454_uc010jkz.2_Missense_Mutation_p.V310G|ZNF454_uc021yjc.1_Missense_Mutation_p.V310G	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AAAGCCTTTGTGTGCAGGGCA	0.378000														68			21		0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131308459	131308459	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:131308459C>T	uc003kvx.2	-	12	1405	c.1296G>A	c.(1294-1296)agG>agA	p.R432R	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Silent_p.R397R|ACSL6_uc003kvy.2_Silent_p.R432R|ACSL6_uc003kvz.2_Silent_p.R332R|ACSL6_uc021ydh.1_Silent_p.R332R|ACSL6_uc010jdo.2_Silent_p.R407R|ACSL6_uc003kwa.2_Silent_p.R418R|ACSL6_uc003kvw.2_Silent_p.R53R|ACSL6_uc010jdn.2_Silent_p.R422R	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	407					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.I431V(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TACTATCATTCCTGATGATTC	0.448000														88			31		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36780084	36780084	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:36780084C>T	uc003cgi.2	-	1	558	c.67G>A	c.(67-69)Gcc>Acc	p.A23T		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	23						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AGGGCCCGGGCTTTGTTGGGG	0.557000														122			53		0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528298	20528298	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:20528298C>T	uc001vwn.1	+	0	95	c.95C>T	c.(94-96)tCc>tTc	p.S32F		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S32F(2)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTGACATTTTCCCTGATCTAC	0.383000														110			54		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779647	36779647	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:36779647C>T	uc003cgi.2	-	1	995	c.504G>A	c.(502-504)aaG>aaA	p.K168K		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	168						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						ACATTGGGCCCTTCCCCATAT	0.562000														88			42		0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	93170179	93170179	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:93170179C>T	uc010otf.2	-	2	414	c.404G>A	c.(403-405)tGg>tAg	p.W135*	EVI5_uc001dox.3_Nonsense_Mutation_p.W135*	NM_005665	NP_005656	O60447	EVI5_HUMAN	Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA.	135	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CCAAAGAATCCAAGAATCTTC	0.378000														79			37		0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100998414	100998414	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:100998414T>C	uc001pgh.2	-	0	2131	c.1388A>G	c.(1387-1389)tAc>tGc	p.Y463C	PGR_uc001pgi.2_Missense_Mutation_p.Y463C|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	463	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CTCCGCTTTGTACAGGATGCA	0.761000														7			8		0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45924250	45924251	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:45924250_45924251CC>TT	uc001nbr.3	+	4	1257_1258	c.932_933CC>TT	c.(931-933)tcc>tTT	p.S311F		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	311					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	MAP-kinase scaffold activity|kinesin binding|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TCAGTCAGCTCCGATCCAGACC	0.673000														20			13		0	0	1	0	0
MOGAT1	116255	broad.mit.edu	37	2	223574553	223574553	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:223574553G>A	uc010fws.1	+	5	1000	c.952G>A	c.(952-954)Gag>Aag	p.E318K	MOGAT1_uc010fwt.1_Missense_Mutation_p.E278K	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 1 (MOGAT1), mRNA.	318					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		GAAATTGTTTGAGGAACACAA	0.398000														68			47		0	0	1	0	0
MRPS31	10240	broad.mit.edu	37	13	41345346	41345346	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:41345346C>T	uc001uxm.4	-	1	1	c.-74_splice	c.e1-1			NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		CCCGCCCTCTCTTCCGCTTCC	0.637000														35			19		0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1129540	1129540	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:1129540C>T	uc021taf.1	+	1	743	c.672C>T	c.(670-672)atC>atT	p.I224I	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.I224I	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	224					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)	ACCTGCTCATCGTGGTGAAGG	0.687000														10			23		0	0	1	0	0
DAOA	267012	broad.mit.edu	37	13	106124924	106124924	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:106124924G>A	uc001vqb.3	+	2	445	c.171G>A	c.(169-171)agG>agA	p.R57R	DAOA-AS1_uc021rmh.1_Intron|DAOA_uc010tjf.2_5'UTR|DAOA_uc001vpz.3_Non-coding_Transcript|DAOA_uc010agd.3_Non-coding_Transcript|DAOA_uc010tjg.2_5'UTR|DAOA_uc001vqc.3_Non-coding_Transcript|DAOA_uc001vqe.3_Non-coding_Transcript	NM_172370	NP_001155286	P59103	DAOA_HUMAN	Homo sapiens D-amino acid oxidase activator (DAOA), transcript variant 1, mRNA.	57						Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CGGTAACAAGGAAAGAAGGAT	0.398000														39			13		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79051909	79051909	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:79051909C>T	uc002bej.4	-	23	5126	c.4915G>A	c.(4915-4917)Gac>Aac	p.D1639N		NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1639	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GACAGGCGGTCCCGCTCACAG	0.672000														7			15		0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6191021	6191021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:6191021G>A	uc010qzy.2	-	0	536	c.536C>T	c.(535-537)tCc>tTc	p.S179F		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCACAGTAGGAGTGAGGAAC	0.488000														30			11		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475301	120475301	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:120475301G>A	uc004bjz.3	+	2	1186	c.895G>A	c.(895-897)Gat>Aat	p.D299N	TLR4_uc004bkb.3_Missense_Mutation_p.D99N|TLR4_uc004bka.3_Missense_Mutation_p.D259N	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	299			D -> G (in allele TLR4*B; reduced LPS- response; associated with an increased risk for ARMD10 in Caucasian patients carriers; dbSNP:rs4986790).		I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CTACCTCGATGATATTATTGA	0.348000														70			29		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84582036	84582036	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:84582036C>T	uc002bjz.4	+	15	2117	c.1893C>T	c.(1891-1893)tcC>tcT	p.S631S	ADAMTSL3_uc010bmt.1_Silent_p.S631S	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	631						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCCCGGCCTCCCGAGAGCTAG	0.607000														23			25		0	0	1	0	0
CXorf65	158830	broad.mit.edu	37	X	70325935	70325935	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:70325935C>T	uc011mpo.2	-	2	397	c.165G>A	c.(163-165)atG>atA	p.M55I	CXorf65_uc011mpp.2_Missense_Mutation_p.M7I	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN	Homo sapiens chromosome X open reading frame 65 (CXorf65), transcript variant 1, mRNA.	55										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						GATTGGGCTTCATCAGGAAAA	0.498000														10			42		0	0	1	0	0
PRLH	51052	broad.mit.edu	37	2	238475806	238475807	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:238475806_238475807CC>TT	uc010znl.2	+	1	252_253	c.252_253CC>TT	c.(250-255)tcccag>tcTTag	p.Q85*		NM_015893	NP_056977	P81277	PRRP_HUMAN	Homo sapiens prolactin releasing hormone (PRLH), mRNA.	85						extracellular region				endometrium(1)|large_intestine(1)	2		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		CTATGTCGTCCCAGGATGGCTG	0.634000														13			17		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62021198	62021198	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:62021198C>T	uc002jds.1	-	21	4002	c.3925G>A	c.(3925-3927)Gac>Aac	p.D1309N		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1309					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ATAAAGATGTCTTTCCCCCCT	0.542000														29			10		0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49743012	49743012	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:49743012C>T	uc003cxh.3	+	23	2290	c.2204C>T	c.(2203-2205)cCc>cTc	p.P735L	RNF123_uc010hky.1_Missense_Mutation_p.P397L|RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	735						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)		GGGCGGCCCCCCGAGGAGCCT	0.647000														22			24		0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27021580	27021580	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:27021580C>T	uc003acz.4	+	3	329	c.294C>T	c.(292-294)gcC>gcT	p.A98A		NM_001886	NP_001877	P53673	CRBA4_HUMAN	Homo sapiens crystallin, beta A4 (CRYBA4), mRNA.	98	Beta/gamma crystallin 'Greek key' 2.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	p.A98S(1)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GGCCTGCGGCCTGTGCTGTAA	0.597000														119			78		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179408973	179408973	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:179408973C>T	uc021vsy.1	-	293	88504	c.88279G>A	c.(88279-88281)Gaa>Aaa	p.E29427K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E23122K|TTN_uc021vta.1_Missense_Mutation_p.E23055K|TTN_uc021vtb.1_Missense_Mutation_p.E22930K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30354	Fibronectin type-III 114.						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)			TCGCTGTATTCGCTCATACCC	0.408000														51			36		0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9520890	9520891	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:9520890_9520891CC>TT	uc002qzh.2	+	19	2309_2310	c.1969_1970CC>TT	c.(1969-1971)ccg>TTg	p.P657L	ASAP2_uc002qzi.2_Missense_Mutation_p.P657L	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	657					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AGGAGAGACTCCGCTGGACATT	0.559000														102			73		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66190156	66190156	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:66190156C>T	uc001ohx.1	+	3	618	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	NPAS4_uc010rpc.1_5'UTR	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	148					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TCGCCTCTTCCGCTGCCGCTT	0.547000														56			22		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100211920	100211920	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:100211920G>A	uc001pga.3	+	22	3517	c.3013G>A	c.(3013-3015)Gaa>Aaa	p.E1005K	CNTN5_uc021qpb.1_Missense_Mutation_p.E1005K|CNTN5_uc021qpc.1_Missense_Mutation_p.E931K|CNTN5_uc010ruk.2_Missense_Mutation_p.E276K	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	1005	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CAACGAATCTGAAGTTGTGGG	0.433000														85			45		0	0	1	0	0
NPRL3	8131	broad.mit.edu	37	16	148260	148260	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:148260G>A	uc002cfr.3	-	8	931	c.807C>T	c.(805-807)tcC>tcT	p.S269S	NPRL3_uc010uua.1_Non-coding_Transcript|NPRL3_uc002cfp.2_Non-coding_Transcript|NPRL3_uc021szl.1_Silent_p.S191S|NPRL3_uc021szm.1_Silent_p.S244S|NPRL3_uc021szn.1_Silent_p.S244S|NPRL3_uc002cfq.3_Silent_p.S90S	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	Homo sapiens nitrogen permease regulator-like 3 (S. cerevisiae) (NPRL3), transcript variant 1, mRNA.	269							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						CACCCAGCAAGGACTTCTCAT	0.567000														9			23		0	0	1	0	0
KCTD7	154881	broad.mit.edu	37	7	66098385	66098385	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:66098385G>A	uc003tve.3	+	1	452	c.268G>A	c.(268-270)Gac>Aac	p.D90N	RABGEF1_uc003tvf.3_Intron|KCTD7_uc003tvd.4_Missense_Mutation_p.D90N	NM_153033	NP_694578	Q96MP8	KCTD7_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 7 (KCTD7), transcript variant 1, mRNA.	90	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CATCCCCACGGACTCCGAGGG	0.557000														39			16		0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97270005	97270005	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:97270005G>A	uc002swn.4	-	16	2277	c.2131C>T	c.(2131-2133)Cct>Tct	p.P711S	KANSL3_uc002swh.4_Missense_Mutation_p.P597S|KANSL3_uc002swi.4_Missense_Mutation_p.P638S|KANSL3_uc002swj.4_Non-coding_Transcript|KANSL3_uc002swk.4_Missense_Mutation_p.P624S|KANSL3_uc010fhz.3_Missense_Mutation_p.P531S|KANSL3_uc002swl.4_Missense_Mutation_p.P610S|KANSL3_uc002swm.4_Non-coding_Transcript|KANSL3_uc010yur.2_Missense_Mutation_p.P505S|KANSL3_uc002swo.3_Missense_Mutation_p.P59S	NM_001115016	NP_060461	Q9P2N6	K1310_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 3 (KANSL3), transcript variant 1, mRNA.	737	Ser-rich.																GAGCTGCCAGGAGATGTGGCC	0.592000														19			14		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220501064	220501064	+	Silent	SNP	C	T	T	rs113725667	byFrequency	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:220501064C>T	uc002vmo.4	+	14	2522	c.2313C>T	c.(2311-2313)atC>atT	p.I771I	SLC4A3_uc002vmp.4_Silent_p.I744I|SLC4A3_uc010fwm.3_Silent_p.I294I|SLC4A3_uc010fwn.1_Silent_p.I253I	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	744	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGAGCTGATCGTGTCCACCG	0.612000														97			65		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196311244	196311244	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:196311244C>T	uc001gtd.1	-	14	1578	c.1518G>A	c.(1516-1518)aaG>aaA	p.K506K	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Intron|KCNT2_uc001gtf.1_Silent_p.K506K|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Silent_p.K506K|KCNT2_uc001gth.1_Silent_p.K27K	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	506	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATGTAAAACTCTTTCCTTCAT	0.363000														49			20		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54212204	54212204	+	Missense_Mutation	SNP	G	A	A	rs75755871	by1000genomes	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:54212204G>A	uc003pcj.2	+	5	934	c.788G>A	c.(787-789)cGa>cAa	p.R263Q	TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	263					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TCTAAGGGTCGATACACGGCC	0.423000														39			41		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72292494	72292494	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:72292494G>A	uc001jrd.4	+	5	1032	c.751G>A	c.(751-753)Gag>Aag	p.E251K		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	251								p.T250M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						GCATGTGACGGAGGAGGTGTA	0.627000														97			61		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25294296	25294296	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:25294296G>A	uc003abg.2	+	19	2702	c.2545G>A	c.(2545-2547)Gag>Aag	p.E849K	SGSM1_uc010guu.1_Missense_Mutation_p.E794K|SGSM1_uc003abh.2_Missense_Mutation_p.E788K|SGSM1_uc003abj.2_Missense_Mutation_p.E733K|SGSM1_uc003abi.1_Missense_Mutation_p.E769K	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	849	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GAGCATGGACGAGTTCATGTC	0.617000														47			25		0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053937	11053937	+	Missense_Mutation	SNP	C	T	T	rs140683647		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:11053937C>T	uc002rax.3	+	0	1875	c.1385C>T	c.(1384-1386)cCg>cTg	p.P462L		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	462						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AAGGAGGCGCCGAGCTGCAGC	0.662000														38			17		0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153677519	153677519	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:153677519G>A	uc003lvh.3	+	2	413	c.281G>A	c.(280-282)aGa>aAa	p.R94K	GALNT10_uc003lvg.1_Missense_Mutation_p.R94K|GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_5'UTR	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	94						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GAACAAGGAAGACCTTACCCC	0.418000														74			64		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753419	13753419	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:13753419G>A	uc003jfd.2	-	62	10837	c.10795C>T	c.(10795-10797)Cgt>Tgt	p.R3599C	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3599	AAA 5 (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)					AAAGGGTAACGAGATGCCTTC	0.373000									Kartagener syndrome					44			82		0	0	1	0	0
TCEB3	6924	broad.mit.edu	37	1	24077922	24077922	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:24077922C>T	uc001bho.3	+	3	965	c.905C>T	c.(904-906)tCc>tTc	p.S302F		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	302					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AAGGCCCTCTCCAAAGAGGAG	0.552000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			28		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72152312	72152312	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:72152312G>A	uc001xms.3	+	9	3699	c.3338G>A	c.(3337-3339)cGa>cAa	p.R1113Q	SIPA1L1_uc001xmt.3_Missense_Mutation_p.R1113Q|SIPA1L1_uc001xmu.3_Missense_Mutation_p.R1113Q|SIPA1L1_uc001xmv.3_Missense_Mutation_p.R1113Q|SIPA1L1_uc010ttm.2_Missense_Mutation_p.R588Q	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1113					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)		AACATCCCTCGAAGCATCTCC	0.557000														29			23		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088327	17088327	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:17088327C>T	uc002nfb.3	-	14	1782	c.1750G>A	c.(1750-1752)Gag>Aag	p.E584K		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	537						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACGTCGACCTCAGCTTCTGGG	0.592000														41			22		0	0	1	0	0
PLRG1	5356	broad.mit.edu	37	4	155469997	155469997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:155469997G>A	uc003iny.3	-	1	225	c.100C>T	c.(100-102)Cct>Tct	p.P34S	PLRG1_uc003inz.3_Missense_Mutation_p.P34S|PLRG1_uc011cil.2_5'UTR	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	34						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TCATCTAAAGGCACAGGTTTT	0.388000														10			25		0	0	1	0	0
ARMCX5-GPRASP2	100528062	broad.mit.edu	37	X	101971114	101971114	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:101971114C>T	uc022cbh.1	+	0	1317	c.1317C>T	c.(1315-1317)gcC>gcT	p.A439A	ARMCX5-GPRASP2_uc022cay.1_Silent_p.A439A|ARMCX5-GPRASP2_uc022cbe.1_Silent_p.A439A|ARMCX5-GPRASP2_uc004ejl.3_Silent_p.A439A|ARMCX5-GPRASP2_uc022cbf.1_Silent_p.A439A|ARMCX5-GPRASP2_uc022cbg.1_Silent_p.A439A|ARMCX5-GPRASP2_uc004ejm.3_Silent_p.A439A|ARMCX5-GPRASP2_uc004ejk.3_Silent_p.A439A	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN	Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.	439						cytoplasm	protein binding										GAGAAGAGGCCAAGCCGGAGT	0.562000														46			69		0	0	1	0	0
DEGS2	123099	broad.mit.edu	37	14	100613236	100613236	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:100613236C>T	uc001ygx.2	-	2	922	c.834G>A	c.(832-834)aaG>aaA	p.K278K		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	Homo sapiens delta(4)-desaturase, sphingolipid 2 (DEGS2), mRNA.	278					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				CGGGCGCGATCTTCCGCACCT	0.662000														64			44		0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	85969	85969	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:85969G>A	uc003fzv.1	+	3	730	c.574G>A	c.(574-576)Gga>Aga	p.G192R	ZNF718_uc003fzt.4_Intron|ZNF718_uc003fzu.1_Intron|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_5'UTR	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TCAACATACAGGAATTCATGC	0.373000														10			5		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160798371	160798371	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:160798371G>A	uc002ube.2	-	29	4522	c.4310C>T	c.(4309-4311)cCt>cTt	p.P1437L	PLA2R1_uc010zcp.2_Missense_Mutation_p.P1435L	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1437					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AGGATAGTAAGGATTCCGAAA	0.393000														32			24		0	0	1	0	0
SPRY1	10252	broad.mit.edu	37	4	124323681	124323681	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:124323681C>T	uc003ifa.3	+	1	1122	c.935C>T	c.(934-936)tCc>tTc	p.S312F	SPRY1_uc003ifb.3_Missense_Mutation_p.S312F|SPRY1_uc021xro.1_Missense_Mutation_p.S312F	NM_199327	NP_955359	O43609	SPY1_HUMAN	Homo sapiens sprouty homolog 1, antagonist of FGF signaling (Drosophila) (SPRY1), transcript variant 2, mRNA.	312					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AGCTGCCCCTCCCGGGGTCAG	0.468000														68			54		0	0	1	0	0
CEP68	23177	broad.mit.edu	37	2	65299917	65299917	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:65299917G>T	uc002sdl.4	+	2	1901	c.1687G>T	c.(1687-1689)Gtc>Ttc	p.V563F	CEP68_uc002sdj.2_Missense_Mutation_p.V563F|CEP68_uc010yqb.1_Missense_Mutation_p.V563F|CEP68_uc002sdk.4_Intron|CEP68_uc010yqc.2_Missense_Mutation_p.V563F|CEP68_uc010yqd.1_Missense_Mutation_p.V563F	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	563					centrosome organization	centrosome		p.V563I(2)		breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GCGCTCCTTCGTCCGTGCCCA	0.642000														88			80		9.61239e-26	9.8527e-26	1	1	0
PDZD8	118987	broad.mit.edu	37	10	119044226	119044226	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:119044226G>A	uc001lde.1	-	4	2217	c.2018C>T	c.(2017-2019)tCg>tTg	p.S673L		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	673					intracellular signal transduction		metal ion binding	p.S673L(2)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ACGGTCGTCCGAACTGTCCTT	0.433000														16			37		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175795	140175795	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140175795G>A	uc003lhd.2	+	0	1352	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E416K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E416K	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	430	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGACCGCGAGAGCGTGTC	0.627000														200			88		0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57472382	57472382	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:57472382C>T	uc003pdx.3	+	12	1255	c.1168C>T	c.(1168-1170)Cca>Tca	p.P390S		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	391					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TCACAGTGATCCAGAGCTGCT	0.458000														70			14		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2857628	2857628	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:2857628C>T	uc022aqr.1	-	52	8445	c.8055G>A	c.(8053-8055)ccG>ccA	p.P2685P	CSMD1_uc011kwj.2_Silent_p.P2015P|CSMD1_uc010lrg.3_Silent_p.P696P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2686	Sushi 18.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGTTCACAATCGGGTCTGGGG	0.423000														63			32		0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141619581	141619581	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:141619581G>A	uc003vwu.1	+	0	906	c.906G>A	c.(904-906)cgG>cgA	p.R302R		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					AGGCCCTTCGGGATGGGGTGA	0.418000														59			55		0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3446640	3446640	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:3446640C>T	uc003ghc.3	+	7	939	c.936C>T	c.(934-936)tcC>tcT	p.S312S	HGFAC_uc010icw.3_Silent_p.S312S	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	312	Kringle.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTGGAACTCCGATCTGCTCT	0.701000														5			11		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31599966	31599966	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:31599966G>A	uc002rnv.1	-	13	1459	c.1380C>T	c.(1378-1380)gcC>gcT	p.A460A		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	460					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGGTTCTGTTGGCCATTCCAC	0.478000														60			51		0	0	1	0	0
IL1A	3552	broad.mit.edu	37	2	113540313	113540313	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:113540313C>T	uc002tig.3	-	2	1036	c.76G>A	c.(76-78)Gat>Aat	p.D26N		NM_000575	NP_000566	P01583	IL1A_HUMAN	Homo sapiens interleukin 1, alpha (IL1A), mRNA.	26					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						GACAGATGATCAATGGAGGAA	0.368000														46			26		0	0	1	0	0
ANXA7	310	broad.mit.edu	37	10	75135928	75135928	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:75135928C>T	uc001jtz.2	-	13	1465	c.1392G>A	c.(1390-1392)aaG>aaA	p.K464K	ANXA7_uc001jua.2_Silent_p.K442K|ANXA7_uc010qki.1_Silent_p.K352K	NM_004034	NP_004025	P20073	ANXA7_HUMAN	Homo sapiens annexin A7 (ANXA7), transcript variant 2, mRNA.	464							calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding	p.Q463Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					TGCCCAGAGTCTTCTGATACA	0.378000														12			13		0	0	1	0	0
FBXL14	144699	broad.mit.edu	37	12	1702393	1702393	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:1702393G>A	uc001qjh.3	-	0	939	c.840C>T	c.(838-840)cgC>cgT	p.R280R	WNT5B_uc009zdq.3_Intron	NM_152441	NP_689654	Q8N1E6	FXL14_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 14 (FBXL14), mRNA.	280						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			GCCCCGAGAGGCGCAGGCTGC	0.607000														33			30		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127685680	127685680	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:127685680C>T	uc003kuu.3	-	21	3269	c.2830G>A	c.(2830-2832)Ggg>Agg	p.G944R	FBN2_uc003kuv.2_Missense_Mutation_p.G911R	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	944	TB 4.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGGCAAGCCCTCTTGGGCAA	0.358000														29			35		0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53544340	53544340	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:53544340G>A	uc001cuv.3	+	7	1470	c.1302G>A	c.(1300-1302)atG>atA	p.M434I	PODN_uc010onr.2_Missense_Mutation_p.M415I|PODN_uc010ons.2_Missense_Mutation_p.M292I|PODN_uc001cuw.3_Missense_Mutation_p.M415I	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	386					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCACCCTCATGATCCTGCACA	0.632000														154			90		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474818	140474818	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140474818C>T	uc003lil.3	+	0	582	c.444C>T	c.(442-444)atC>atT	p.I148I	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	148	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGAAAGTATCACTCCTGGAA	0.408000														40			23		0	0	1	0	0
C22orf42	150297	broad.mit.edu	37	22	32545752	32545752	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:32545752C>T	uc003amd.3	-	7	711	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K		NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN	Homo sapiens chromosome 22 open reading frame 42 (C22orf42), mRNA.	224										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						AGGTAATCTTCATATCTCTCC	0.338000														24			13		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54799659	54799659	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:54799659C>A	uc001sga.3	-	9	1026	c.958G>T	c.(958-960)Gaa>Taa	p.E320*	ITGA5_uc010sow.1_Non-coding_Transcript|ITGA5_uc009znp.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	320					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						CTTACCTGTTCCCCTGAGAAG	0.542000														91			51		9.59835e-30	9.85726e-30	1	1	0
TTN	7273	broad.mit.edu	37	2	179641768	179641768	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:179641768C>T	uc021vsy.1	-	27	5048	c.4823G>A	c.(4822-4824)gGa>gAa	p.G1608E	TTN_uc021vsz.1_Missense_Mutation_p.G1562E|TTN_uc021vta.1_Missense_Mutation_p.G1562E|TTN_uc021vtb.1_Missense_Mutation_p.G1562E|TTN_uc002unb.2_Missense_Mutation_p.G1608E|AK123298_uc002unc.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1608	Ig-like 7.						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)			TCCCTTGGTTCCTTCAATTCT	0.398000														37			29		0	0	1	0	0
FAM108C1	58489	broad.mit.edu	37	15	81042009	81042009	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:81042009C>T	uc002bfu.3	+	1	865	c.746C>T	c.(745-747)aCa>aTa	p.T249I	FAM108C1_uc002bft.3_Intron	NM_021214	NP_067037	Q6PCB6	F108C_HUMAN	Homo sapiens family with sequence similarity 108, member C1 (FAM108C1), mRNA.	249							hydrolase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)	5						ACCAGGAAAACATACTGCTTT	0.473000														26			24		0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103410646	103410646	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:103410646G>A	uc001ymi.1	-	29	4222	c.3990C>T	c.(3988-3990)ctC>ctT	p.L1330L	CDC42BPB_uc001ymj.1_Silent_p.L432L	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	1330	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCGTGGCCATGAGCTGGCAGC	0.567000														27			13		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215916588	215916588	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:215916588G>A	uc001hku.1	-	58	11866	c.11479C>T	c.(11479-11481)Caa>Taa	p.Q3827*		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3827	Fibronectin type-III 23.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGGTGGATTGATGATGACCA	0.438000										HNSCC(13;0.011)				62			65		0	0	1	0	0
CABP7	164633	broad.mit.edu	37	22	30125176	30125176	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:30125176G>A	uc003agl.3	+	3	569	c.499G>A	c.(499-501)Gag>Aag	p.E167K		NM_182527	NP_872333	Q86V35	CABP7_HUMAN	Homo sapiens calcium binding protein 7 (CABP7), mRNA.	167						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			CACAGCCGAGGAGTGTCCCGT	0.632000														8			7		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70515509	70515509	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:70515509G>A	uc001xly.3	-	6	3136	c.2382C>T	c.(2380-2382)ttC>ttT	p.F794F	SLC8A3_uc001xlv.3_Silent_p.F165F|SLC8A3_uc001xlu.3_Silent_p.F151F|SLC8A3_uc001xlw.3_Silent_p.F791F|SLC8A3_uc001xlx.3_Silent_p.F792F|SLC8A3_uc001xlz.3_Silent_p.F788F|SLC8A3_uc010ara.3_Non-coding_Transcript|SLC8A3_uc001xma.2_Silent_p.F151F	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	794					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CAAATGCCACGAAAACAACAG	0.507000														21			7		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16257608	16257608	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:16257608G>T	uc001axk.1	+	10	5077	c.4873G>T	c.(4873-4875)Gag>Tag	p.E1625*	SPEN_uc010obp.1_Nonsense_Mutation_p.E1584*	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1625					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATCTGCTCCTGAGAATAAAGA	0.453000														44			91		5.50736e-56	5.6833e-56	1	1	0
NAALADL2	254827	broad.mit.edu	37	3	175473111	175473111	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:175473111G>A	uc003fit.3	+	12	2181	c.2094G>A	c.(2092-2094)aaG>aaA	p.K698K		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	698					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ATGATCCCAAGGAGAGAGCAC	0.493000														36			10		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29556483	29556483	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:29556483G>A	uc002hgg.3	+	21	3233	c.2850_splice	c.e21+1	p.Q950_splice	NF1_uc002hgh.3_Splice_Site_p.Q950_splice|NF1_uc010csn.2_Splice_Site_p.Q810_splice|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	950					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCCAAGGACAGGTAAAGTGTT	0.343000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				68			30		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28972253	28972253	+	Missense_Mutation	SNP	G	A	A	rs140750904	byFrequency	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:28972253G>A	uc002kwr.2	+	7	1090	c.955G>A	c.(955-957)Gat>Aat	p.D319N	DSG4_uc002kwq.2_Missense_Mutation_p.D319N	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	319	Cadherin 3.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAATTGGTTCGATATTCAAAC	0.343000														9			29		0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8486364	8486364	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:8486364G>A	uc001mgi.1	-	2	1264	c.345C>T	c.(343-345)atC>atT	p.I115I	STK33_uc001mgj.1_Silent_p.I115I|STK33_uc001mgk.1_Silent_p.I115I|STK33_uc010rbn.1_Silent_p.I74I|STK33_uc001mgl.3_5'UTR|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	115						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CAAAGGTATAGATTTCCTGGA	0.353000														53			33		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50724620	50724620	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:50724620C>T	uc021vhh.1	-	12	3651	c.2730G>A	c.(2728-2730)aaG>aaA	p.K910K	NRXN1_uc002rxb.4_Silent_p.K582K|NRXN1_uc021vhg.1_Silent_p.K950K|NRXN1_uc021vhi.1_Silent_p.K946K|NRXN1_uc021vhj.1_Silent_p.K906K|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	910	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCGATTTGGTCTTGAAGGTGA	0.408000														26			14		0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211109	59211109	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:59211109C>T	uc001nnx.1	+	0	468	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TTGGTGGCTTCCTGAGCTCCC	0.562000														248			161		0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585410	70585410	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:70585410G>A	uc003xyl.3	-	9	2948	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F	SLCO5A1_uc010lzb.3_Silent_p.F692F|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	747						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TAAACCCAACGAATTTGAGGC	0.488000														97			66		0	0	1	0	0
CYBASC3	220002	broad.mit.edu	37	11	61121425	61121425	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:61121425G>A	uc010rlh.2	-	4	1055	c.275C>T	c.(274-276)cCc>cTc	p.P92L	CYBASC3_uc001nrf.4_Missense_Mutation_p.P75L|CYBASC3_uc001nrg.3_Missense_Mutation_p.P75L|CYBASC3_uc009ynn.3_Intron|CYBASC3_uc009yno.2_Missense_Mutation_p.P75L	NM_001161454	NP_705839	Q8NBI2	CYAC3_HUMAN	Homo sapiens cytochrome b, ascorbate dependent 3 (CYBASC3), transcript variant 1, mRNA.	75	Cytochrome b561.				electron transport chain|transport	integral to membrane|late endosome membrane|lysosomal membrane	metal ion binding|oxidoreductase activity			kidney(1)|large_intestine(3)|lung(2)	6						GGGCAGTTTGGGCCCCACCCA	0.612000														41			35		0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236716961	236716961	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:236716961A>C	uc001hyd.2	-	42	6309	c.6157T>G	c.(6157-6159)Tcg>Gcg	p.S2053A	HEATR1_uc009xgh.2_Missense_Mutation_p.S1215A	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	2053					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.S2053S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATGGCCACCGAAAACTGTGCG	0.498000														58			32		0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150956828	150956828	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:150956828C>T	uc001ewa.2	+	5	809	c.339C>T	c.(337-339)ccC>ccT	p.P113P		NM_003568	NP_003559	O76027	ANXA9_HUMAN	Homo sapiens annexin A9 (ANXA9), mRNA.	113					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	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)			TGCTGCAGCCCACAGCCCAGT	0.567000														111			62		0	0	1	0	0
OTOR	56914	broad.mit.edu	37	20	16729556	16729556	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:16729556G>A	uc002wpj.3	+	1	204	c.160G>A	c.(160-162)Gac>Aac	p.D54N		NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	Homo sapiens otoraplin (OTOR), mRNA.	54	SH3.				sensory perception of sound	extracellular region		p.D54N(2)|p.P53L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						TAATGCCCCGGACTGTAGATT	0.363000														32			18		0	0	1	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71163195	71163195	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:71163195C>T	uc002shj.3	+	0	198	c.111C>T	c.(109-111)ccC>ccT	p.P37P	ATP6V1B1_uc002shi.1_Silent_p.P37P	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	37					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						TCACCCACCCCCGTGTCAGTG	0.652000														34			28		0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51225337	51225337	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:51225337T>A	uc001wyi.3	-	17	2602	c.2411A>T	c.(2410-2412)gAa>gTa	p.E804V	NIN_uc001wyj.3_Intron|NIN_uc001wym.2_Missense_Mutation_p.E804V|NIN_uc001wyk.3_Intron|NIN_uc001wyo.3_Missense_Mutation_p.E804V	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	804					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ACACTCTGTTTCCATTTTTTC	0.423000			T	PDGFRB	MPD									34			19		0	0	1	0	0
THSD1P1	374500	broad.mit.edu	37	13	52864092	52864092	+	RNA	SNP	A	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:52864092A>G	uc001vgm.1	-	1		c.66T>C								Homo sapiens thrombospondin, type I, domain containing 1 pseudogene 1 (THSD1P1), non-coding RNA.																		AGCCACATCCAACAAGATCAG	0.299000														12			13		0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73051547	73051547	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:73051547C>T	uc001jro.3	+	9	2104	c.1653C>T	c.(1651-1653)tgC>tgT	p.C551C	UNC5B_uc001jrp.3_Silent_p.C540C	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	551	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCTTTGGCTGCCTGGGTGGGA	0.682000														31			11		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169833151	169833151	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:169833151C>T	uc002ueo.1	-	11	1370	c.1244G>A	c.(1243-1245)cGa>cAa	p.R415Q		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	415			R -> Q.		bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ACCCTTGATTCGATCCAACTT	0.413000														31			17		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36486604	36486604	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:36486604C>T	uc002hpz.3	-	10	2869	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	950						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ATCCTTGGCTCTCCCAGGCCC	0.632000														10			10		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241461	3241461	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:3241461C>T	uc004crg.4	-	4	2422	c.2265G>A	c.(2263-2265)gaG>gaA	p.E755E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	755						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAACATTGGTCTCTGGTTCTT	0.433000														24			60		0	0	1	0	0
RANBP3	8498	broad.mit.edu	37	19	5933471	5933471	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:5933471G>A	uc002mdw.3	-	5	653	c.426C>T	c.(424-426)ttC>ttT	p.F142F	RANBP3_uc002mdv.3_5'UTR|RANBP3_uc002mdx.3_Silent_p.F142F|RANBP3_uc002mdy.3_Silent_p.F74F|RANBP3_uc002mdz.3_Silent_p.F74F|RANBP3_uc010duq.3_Silent_p.F52F|RANBP3_uc010xix.2_Silent_p.F14F	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	Homo sapiens RAN binding protein 3 (RANBP3), transcript variant RANBP3-d, mRNA.	142					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding	p.G141V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						GCTTCAACCGGAAGCCACTGC	0.617000														40			31		0	0	1	0	0
PRSS45	377047	broad.mit.edu	37	3	46784427	46784427	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:46784427G>A	uc010hjl.3	-	2	464	c.429C>T	c.(427-429)acC>acT	p.T143T	PRSS50_uc021wxe.1_Intron|PRSS50_uc011bam.2_Non-coding_Transcript	NM_199183	NP_954652	Q7RTY3	PRS45_HUMAN	Homo sapiens protease, serine, 45 (PRSS45), mRNA.	175	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CCCCATAATTGGTGGCACAGA	0.542000														15			17		0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111082	55111082	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:55111082C>T	uc010rie.2	+	0	406	c.406C>T	c.(406-408)Cga>Tga	p.R136*		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R136L(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CATCATGAATCGACTGGTTTG	0.473000														85			79		0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33604796	33604797	+	Nonsense_Mutation	DNP	CC	GT	GT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:33604796_33604797CC>GT	uc002nug.1	+	13	2330_2331	c.2016_2017CC>GT	c.(2014-2019)caccga>caGTga	p.672_673HR>Q*	GPATCH1_uc002nuh.1_Nonsense_Mutation_p.49_50HR>Q*	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	672						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TATCACAGCACCGAGGTCCCGA	0.525000														23			18		0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8563776	8563776	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:8563776G>A	uc002mkd.3	-	1	979	c.916C>T	c.(916-918)Ccc>Tcc	p.P306S		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	354	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GGCCTCTTGGGAAGCACGCTG	0.667000														19			15		0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66829101	66829101	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:66829101C>T	uc001dcn.3	+	11	1322	c.1131C>T	c.(1129-1131)ctC>ctT	p.L377L	PDE4B_uc009war.3_Silent_p.L285L|PDE4B_uc001dco.3_Silent_p.L377L|PDE4B_uc001dcp.3_Silent_p.L362L|PDE4B_uc001dcq.3_Silent_p.L205L|PDE4B_uc009was.3_Silent_p.L144L	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	377					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	AAAGAGACCTCCTAAAGACAT	0.353000														34			20		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9391729	9391729	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:9391729C>T	uc021wam.1	+	20	2024	c.2009C>T	c.(2008-2010)tCg>tTg	p.S670L	PLCB4_uc010gbw.1_Missense_Mutation_p.S670L|PLCB4_uc010gbx.3_Missense_Mutation_p.S682L|PLCB4_uc021wal.1_Missense_Mutation_p.S670L|PLCB4_uc002wnh.3_Missense_Mutation_p.S517L	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	670	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.S670L(2)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TATAATGGATCGTGCGGGTGA	0.363000														43			34		0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552398	1552398	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:1552398C>T	uc010gai.3	-	2	818	c.719G>A	c.(718-720)cGt>cAt	p.R240H	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	240	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.R240C(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGCAGTCCCACGAAGAGGGTC	0.622000														55			37		0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49150050	49150050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:49150050G>A	uc003cwd.2	-	16	2528	c.2209C>T	c.(2209-2211)Cgt>Tgt	p.R737C	USP19_uc003cwa.3_Missense_Mutation_p.R545C|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Missense_Mutation_p.R840C|USP19_uc011bcg.2_Missense_Mutation_p.R828C|USP19_uc003cwc.2_Missense_Mutation_p.R495C|USP19_uc011bch.2_Missense_Mutation_p.R838C	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	737					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGATGAAAACGATTCTTAATT	0.522000														49			18		0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171832	68171832	+	Missense_Mutation	SNP	C	T	T	rs104894578		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:68171832C>T	uc010dfg.3	+	1	1053	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	KCNJ2_uc002jir.3_Missense_Mutation_p.R218W|KCNJ2_uc021ucj.1_Missense_Mutation_p.R218W	NM_000891	NP_000882	P63252	IRK2_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 2 (KCNJ2), mRNA.	218			R -> W (in LQT7; loss of function and dominant-negative effect in current).		synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	p.R218Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GGGCAATCTTCGGAAAAGCCA	0.468000														39			39		0	0	1	0	0
CD8A	925	broad.mit.edu	37	2	87016531	87016531	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:87016531G>A	uc002srt.3	-	3	1429	c.540C>T	c.(538-540)gcC>gcT	p.A180A	RMND5A_uc002srs.4_Intron|CD8A_uc002srv.3_Silent_p.A180A|CD8A_uc010ytn.2_Silent_p.A221A|CD8A_uc002sru.3_Intron	NM_001768	NP_001759	P01732	CD8A_HUMAN	Homo sapiens CD8a molecule (CD8A), transcript variant 1, mRNA.	180					antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|extracellular region|integral to plasma membrane	MHC class I protein binding|coreceptor activity			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						AGATATCACAGGCGAAGTCCA	0.607000														57			27		0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30688494	30688494	+	Missense_Mutation	SNP	G	A	A	rs145310510		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:30688494G>A	uc010gvu.3	-	8	1503	c.1418C>T	c.(1417-1419)cCa>cTa	p.P473L	TBC1D10A_uc003ahd.3_5'Flank|TBC1D10A_uc003ahf.3_Intron|TBC1D10A_uc003ahg.3_Intron|TBC1D10A_uc003ahh.3_Intron|TBC1D10A_uc003ahi.3_Intron|TBC1D10A_uc010gvq.3_Intron|TBC1D10A_uc010gvr.3_5'Flank|TBC1D10A_uc010gvs.2_5'Flank|TBC1D10A_uc003ahk.4_Missense_Mutation_p.P466L	NM_001204240	NP_001191169	Q9BXI6	TB10A_HUMAN	Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 1, mRNA.	466						intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity	p.P466Q(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CACATGCTGTGGGGGACATGC	0.637000														149			99		0	0	1	0	0
PAPL	390928	broad.mit.edu	37	19	39589288	39589288	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:39589288G>A	uc002oki.3	+	2	586	c.312G>A	c.(310-312)ggG>ggA	p.G104G	PAPL_uc010egl.3_Silent_p.G104G	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	104						extracellular region	acid phosphatase activity|metal ion binding										TGCTGCCAGGGGTTCAGTATG	0.637000														36			13		0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177142361	177142361	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:177142361G>A	uc003iuq.2	-	4	729	c.615C>T	c.(613-615)ctC>ctT	p.L205L	ASB5_uc003iup.2_Silent_p.L152L	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	205					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AAGCTACATAGAGAGGAGTTC	0.418000														31			33		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55331457	55331457	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:55331457C>T	uc002qhl.4	+	3	708	c.645C>T	c.(643-645)atC>atT	p.I215I	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Silent_p.I215I|KIR3DL2_uc010esf.3_Silent_p.I120I|KIR3DL2_uc021vbo.1_Silent_p.I215I|KIR3DL2_uc002qhk.4_Silent_p.I215I			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	215					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CCCTGGACATCGTGGTCACAG	0.527000														123			89		0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770208	53770208	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:53770208G>A	uc010ydu.2	-	0	711	c.711C>T	c.(709-711)atC>atT	p.I237I		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA.	237					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		TGCTCACCAGGATGAGGATGC	0.502000										HNSCC(26;0.072)				16			8		0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73748721	73748721	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:73748721G>A	uc001ouu.2	-	29	5910	c.5683C>T	c.(5683-5685)Cag>Tag	p.Q1895*	C2CD3_uc001out.3_Intron	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1895						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTCTGAATCTGATCAAGCTCA	0.488000														25			6		0	0	1	0	0
ISPD	729920	broad.mit.edu	37	7	16415867	16415867	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:16415867C>T	uc010ktx.2	-	3	535	c.535_splice	c.e3-1	p.A179_splice	ISPD_uc010kty.2_Intron	NM_001101426	NP_001094896	A4D126	ISPD_HUMAN	Homo sapiens isoprenoid synthase domain containing (ISPD), transcript variant 1, mRNA.	179					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						CTCCTGCTGCCTGAAGAACAA	0.418000										Multiple Myeloma(15;0.18)				43			17		0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310120	56310120	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:56310120T>C	uc010rjl.2	-	0	614	c.614A>G	c.(613-615)aAc>aGc	p.N205S	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GCTGGAGAGGTTGAAGCCAGC	0.498000														35			32		0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89735075	89735075	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:89735075A>C	uc001dnc.3	-	2	701	c.164T>G	c.(163-165)aTg>aGg	p.M55R	GBP5_uc001dnd.3_Missense_Mutation_p.M55R|GBP5_uc001dne.1_Missense_Mutation_p.M55R	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	55						plasma membrane	GTP binding|GTPase activity	p.M55I(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CAGCTTGTTCATCAGGTAGGA	0.502000														110			64		0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53223127	53223127	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:53223127C>T	uc003dgl.3	+	16	1961	c.1608C>T	c.(1606-1608)gtC>gtT	p.V536V	PRKCD_uc003dgm.3_Silent_p.V536V	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	536	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of MAP kinase activity|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		CTTTCGGGGTCCTTCTGTACG	0.572000														32			11		0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143559619	143559619	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:143559619C>T	uc003ywm.3	+	5	1642	c.1459C>T	c.(1459-1461)Cga>Tga	p.R487*		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	487	TSP type-1 4.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTCCCAGGGCCGACAGCAGCG	0.677000														21			9		0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112541914	112541914	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:112541914G>A	uc002thi.3	-	40	5228	c.4981C>T	c.(4981-4983)Cat>Tat	p.H1661Y		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	1661					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TTTAAAAGATGGAGTTCTGGA	0.438000														40			22		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7649675	7649675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:7649675C>T	uc001qsz.3	-	4	961	c.833G>A	c.(832-834)aGa>aAa	p.R278K	CD163_uc001qta.3_Missense_Mutation_p.R278K|CD163_uc009zfw.2_Missense_Mutation_p.R278K	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	278	SRCR 3.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CACTTCTAATCTTCCTGAACA	0.488000														92			49		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91672026	91672026	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:91672026A>T	uc003ulg.3	+	19	5328	c.5103A>T	c.(5101-5103)aaA>aaT	p.K1701N	AKAP9_uc003ulf.3_Missense_Mutation_p.K1701N|AKAP9_uc003uli.3_Missense_Mutation_p.K1326N	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1713					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAACATTTAAAGAAAAGGAAT	0.328000			T	BRAF	papillary thyroid									53			33		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131219	72131219	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:72131219G>A	uc004ahh.2	-	1	1184	c.908C>T	c.(907-909)cCc>cTc	p.P303L		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	303	Munc-18-1 binding.|Pro-rich.				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						cggggTAGGGGGACGCTCCAG	0.756000														1			4		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158632529	158632529	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:158632529G>A	uc001fst.1	-	16	2626	c.2427C>T	c.(2425-2427)atC>atT	p.I809I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	809			I -> V (in dbSNP:rs7547313).		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)					CAGTCTCTTGGATCCAGGCCT	0.502000														48			35		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10908841	10908841	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr21:10908841A>G	uc002yip.1	-	22	1872	c.1504T>C	c.(1504-1506)Ttt>Ctt	p.F502L	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.F484L|TPTE_uc002yir.1_Missense_Mutation_p.F464L|TPTE_uc010gkv.1_Missense_Mutation_p.F364L	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	502	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTCAATAAAAGATGTGTGC	0.303000														28			16		0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10433941	10433941	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:10433941G>A	uc002moa.3	-	4	1089	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	320	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCCTTCCCCCGATTGAGGGCC	0.672000														29			19		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189950480	189950480	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:189950480C>T	uc002uqk.3	-	9	984	c.709G>A	c.(709-711)Gga>Aga	p.G237R	COL5A2_uc010frx.3_5'UTR	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	237					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAGGAGGTCCTGTAGGTCCT	0.388000														23			15		0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114165440	114165440	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:114165440C>T	uc001edk.3	+	8	1365	c.1184C>T	c.(1183-1185)tCa>tTa	p.S395L	MAGI3_uc001edh.3_Missense_Mutation_p.S420L|MAGI3_uc001edi.4_Missense_Mutation_p.S395L|MAGI3_uc010owm.2_Missense_Mutation_p.S420L|MAGI3_uc001edj.3_Missense_Mutation_p.S116L	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	420					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGGAAAAATCACACTTCACA	0.343000														34			12		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700965	136700965	+	Silent	SNP	T	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:136700965T>C	uc003vtf.1	+	3	1976	c.1353T>C	c.(1351-1353)ttT>ttC	p.F451F	CHRM2_uc003vtg.1_Silent_p.F451F|CHRM2_uc003vti.1_Silent_p.F451F|CHRM2_uc003vtm.1_Silent_p.F451F|CHRM2_uc003vtj.1_Silent_p.F451F|CHRM2_uc003vtk.1_Silent_p.F451F|CHRM2_uc003vtl.1_Silent_p.F451F|CHRM2_uc003vtn.1_Silent_p.F451F|CHRM2_uc003vto.1_Silent_p.F451F|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.F451F	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	451					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.T450T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AGAAGACCTTTAAACACCTTC	0.413000														73			61		0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76906068	76906068	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:76906068G>T	uc001xsr.3	+	3	743	c.372G>T	c.(370-372)aaG>aaT	p.K124N	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.K124N	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	124						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		AGGCTTGCAAGGCCTTCTTCA	0.657000														23			18		0.00074312	0.000748032	1	1	0
C3	718	broad.mit.edu	37	19	6694576	6694577	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:6694576_6694577GG>AA	uc002mfm.3	-	23	3081_3082	c.3019_3020CC>TT	c.(3019-3021)ccc>TTc	p.P1007F		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1007					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.T1006I(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCAGCCCGAGGGGGTCACAATG	0.609000														59			35		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152512673	152512673	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:152512673C>T	uc021vrb.1	-	46	6518	c.6489G>A	c.(6487-6489)caG>caA	p.Q2163Q	NEB_uc002txu.3_Silent_p.Q2163Q|NEB_uc021vrc.1_Silent_p.Q2163Q|NEB_uc010fnx.3_Silent_p.Q2163Q|NEB_uc021vrd.1_Silent_p.Q2163Q	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2163					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTACATCACTCTGTATGCGAT	0.438000														226			140		0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76621384	76621384	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:76621384G>A	uc003kfa.3	+	2	465	c.420G>A	c.(418-420)aaG>aaA	p.K140K	PDE8B_uc003kfd.3_Silent_p.K140K|PDE8B_uc003kfe.3_Silent_p.K140K|PDE8B_uc003kfb.3_Silent_p.K120K|PDE8B_uc003kfc.3_Silent_p.K140K	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	140					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TCTTTGCAAAGGAAGATAGTC	0.453000														99			71		0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10426508	10426508	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:10426508G>A	uc003jet.1	+	23	2563	c.2380G>A	c.(2380-2382)Gca>Aca	p.A794T	MARCH6_uc011cmu.1_Missense_Mutation_p.A746T|MARCH6_uc003jeu.1_Missense_Mutation_p.A492T|MARCH6_uc011cmv.1_Missense_Mutation_p.A689T	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	794					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	p.A794T(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TCAGGTTTACGCAAATGGCAT	0.413000														85			138		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55569128	55569128	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:55569128C>T	uc021pqw.1	-	35	5086	c.4691G>A	c.(4690-4692)gGa>gAa	p.G1564E	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Missense_Mutation_p.G1559E|PCDH15_uc021pqx.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					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)				GTCAACGATTCCTCTTTTATC	0.428000										HNSCC(58;0.16)				92			27		0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17409438	17409438	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:17409438G>A	uc011kye.2	+	5	1166	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E	SLC7A2_uc011kyc.2_Missense_Mutation_p.G333E|SLC7A2_uc011kyd.2_Missense_Mutation_p.G373E	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	333					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GAATATGTGGGATGGGGTCCT	0.502000														19			33		0	0	1	0	0
PON2	5445	broad.mit.edu	37	7	95039345	95039346	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:95039345_95039346GG>AA	uc003unv.3	-	5	683_684	c.562_563CC>TT	c.(562-564)cct>TTt	p.P188F	PON2_uc003unu.3_Missense_Mutation_p.P176F|PON2_uc010lfk.3_Non-coding_Transcript|PON2_uc003unw.3_Missense_Mutation_p.P101F	NM_000305	NP_000296	Q15165	PON2_HUMAN	Homo sapiens paraoxonase 2 (PON2), transcript variant 1, mRNA.	188					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			CTTTAAGAAAGGATCAGAGAAG	0.371000														55			38		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11595677	11595677	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:11595677G>A	uc001ash.4	+	19	3930	c.3792G>A	c.(3790-3792)gaG>gaA	p.E1264E		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1264					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.E1481E(1)		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)		TGGCTGGAGAGAACCTGCCCC	0.657000														18			32		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542471	179542471	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:179542471C>T	uc021vsy.1	-	142	30661	c.30436G>A	c.(30436-30438)Gaa>Aaa	p.E10146K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6807K|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11073	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGGAATTTCCTCTTCTTCA	0.433000														106			77		0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68029230	68029230	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:68029230C>T	uc001xjl.1	+	6	1024	c.882C>T	c.(880-882)ctC>ctT	p.L294L		NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	294						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GAGGGATGCTCCCTGGGACAA	0.602000														20			11		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30966411	30966411	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:30966411G>A	uc021vfn.1	-	11	1315	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.S424F|CAPN13_uc002rno.3_5'UTR	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	428					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TCTGAACGAGGAAAAAAACAC	0.473000														83			64		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109771849	109771849	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:109771849G>A	uc004bcz.3	+	11	7502	c.7213G>A	c.(7213-7215)Ggg>Agg	p.G2405R	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.G2314R|ZNF462_uc004bda.3_Missense_Mutation_p.G2313R|ZNF462_uc011lvz.2_Missense_Mutation_p.G362R|AK097706_uc004bdc.1_Intron	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	2405					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						TTCTGACCACGGGGCTGCTCT	0.473000														37			29		0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6692231	6692231	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:6692231G>A	uc001qpo.3	-	26	4273	c.4109C>T	c.(4108-4110)tCa>tTa	p.S1370L	CHD4_uc001qpn.3_Missense_Mutation_p.S1363L|CHD4_uc001qpp.3_Missense_Mutation_p.S1395L|AK096395_uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1370					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ACCTTCCTCTGAAGCCACTGA	0.502000														60			56		0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52827650	52827650	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:52827650C>G	uc001saj.2	-	0	461	c.439G>C	c.(439-441)Gcc>Ccc	p.A147P		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	147	Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CGCTCCTCGGCCCGCACCCGC	0.587000														111			71		0	0	1	0	0
P2RX3	5024	broad.mit.edu	37	11	57118326	57118326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:57118326G>A	uc001nju.3	+	7	980	c.796G>A	c.(796-798)Gac>Aac	p.D266N		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	266					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	p.D266N(2)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CACCCGGCTCGACAGCGTTTC	0.567000														38			32		0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47685758	47685758	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:47685758G>A	uc001cqx.2	-	3	1207	c.630C>T	c.(628-630)ctC>ctT	p.L210L	TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Silent_p.L210L	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	210	Helix-loop-helix motif.				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TCAGCTTGCGGAGCTCGGCAA	0.572000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic									55			39		0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76957851	76957851	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:76957851C>T	uc001xsr.3	+	7	1220	c.849C>T	c.(847-849)atC>atT	p.I283I	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Silent_p.I283I	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	283						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GGATGGAAATCCTCATCCTGG	0.622000														12			11		0	0	1	0	0
AP1S2	8905	broad.mit.edu	37	17	58179929	58179929	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:58179929C>T	uc010wot.1	-	0	352	c.236G>A	c.(235-237)aGa>aAa	p.R79K		NM_003916	NP_003907	P56377	AP1S2_HUMAN	Homo sapiens adaptor-related protein complex 1, sigma 2 subunit (AP1S2), mRNA.	32					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|Golgi membrane|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane	protein transporter activity			large_intestine(1)	1	Hepatocellular(33;0.183)					AACAAGTTCTCTTGTGATCTT	0.418000														34			36		0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6596477	6596477	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:6596477C>T	uc002gdj.3	-	8	1249	c.1161G>A	c.(1159-1161)agG>agA	p.R387R	SLC13A5_uc010clq.3_Silent_p.R344R|SLC13A5_uc002gdk.3_Silent_p.R370R|SLC13A5_uc010vtf.2_Silent_p.R387R	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	387						integral to membrane	citrate transmembrane transporter activity	p.R387K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						ATGGAGTTTTCCTTTCTGGGA	0.498000														24			9		0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765709	171765709	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:171765709G>A	uc003mbr.3	-	12	2571	c.2400C>T	c.(2398-2400)gtC>gtT	p.V800V		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	800	Pro-rich.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTTTGGAGGGACGAGGAGAG	0.617000														40			14		0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53303099	53303099	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:53303099C>T	uc002qad.3	-	3	2156	c.1999G>A	c.(1999-2001)Gaa>Aaa	p.E667K	ZNF28_uc002qac.3_Missense_Mutation_p.E613K|ZNF28_uc010eqe.3_Missense_Mutation_p.E613K|ZNF28_uc021uza.1_Missense_Mutation_p.E614K	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	667					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTGCCACATTCATTACACTTG	0.423000														111			58		0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8215408	8215408	+	Silent	SNP	T	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:8215408T>C	uc002glc.3	+	1	206	c.51T>C	c.(49-51)ccT>ccC	p.P17P	ARHGEF15_uc002glb.2_Silent_p.P17P|ARHGEF15_uc002gld.3_Silent_p.P17P|ARHGEF15_uc010vuw.2_Silent_p.P17P	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	17	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AGAAGCCCCCTCGGATCATCC	0.627000														92			6		0	0	1	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48198166	48198167	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:48198166_48198167GG>AA	uc002phh.4	+	8	3099_3100	c.2905_2906GG>AA	c.(2905-2907)gga>AAa	p.G969K	GLTSCR1_uc002phi.4_Missense_Mutation_p.G727K	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 1 (GLTSCR1), mRNA.	969							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GGTGCCGTCCGGAATCATCCTC	0.678000														32			15		0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7416820	7416820	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:7416820C>T	uc002ghf.4	+	28	5623	c.5237C>T	c.(5236-5238)cCg>cTg	p.P1746L		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	1746	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|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|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				cccaccagcccGAACTATTCT	0.537000														253			199		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712147	121712147	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:121712147C>T	uc003ees.3	-	6	1652	c.1449G>A	c.(1447-1449)gaG>gaA	p.E483E	ILDR1_uc003eeq.3_Silent_p.E451E|ILDR1_uc003eer.3_Silent_p.E439E|ILDR1_uc010hrg.3_Silent_p.E394E	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	483						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TCTCCTTGTCCTCTTCAGAGC	0.682000														24			18		0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:3649787T>C	uc001qmf.3	+	1	458	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_uc009zed.3_Missense_Mutation_p.S22P|PRMT8_uc009zee.1_Non-coding_Transcript	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.	31					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652000														85			8		0	0	1	0	0
FAM82A1	151393	broad.mit.edu	37	2	38216753	38216753	+	Silent	SNP	C	T	T	rs146170943		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:38216753C>T	uc002rqn.2	+	5	1521	c.1395C>T	c.(1393-1395)ctC>ctT	p.L465L	FAM82A1_uc002rqk.1_Silent_p.L142L|FAM82A1_uc002rql.3_Silent_p.L287L|FAM82A1_uc021vga.1_Silent_p.L287L|FAM82A1_uc002rqm.3_Silent_p.L142L	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	287						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						ATGGGCACCTCTTCAAGGTAT	0.308000														40			24		0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229772852	229772852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:229772852C>T	uc001hts.1	+	3	2628	c.2492C>T	c.(2491-2493)tCa>tTa	p.S831L	URB2_uc009xfd.1_Missense_Mutation_p.S831L	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	831						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAGCGTGACTCAGGTCTTGTC	0.493000														85			54		0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33874911	33874911	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:33874911G>A	uc021wck.1	-	3	1789	c.1671C>T	c.(1669-1671)ctC>ctT	p.L557L	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Silent_p.L212L	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	557										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTCGGGACAGGAGATCCAGCT	0.662000														28			16		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72200466	72200466	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:72200466C>T	uc001xms.3	+	18	5369	c.5008C>T	c.(5008-5010)Ctg>Ttg	p.L1670L	SIPA1L1_uc001xmt.3_Silent_p.L1649L|SIPA1L1_uc001xmu.3_Silent_p.L1649L|SIPA1L1_uc001xmv.3_Silent_p.L1670L|SIPA1L1_uc010ttm.2_Silent_p.L1124L	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1670					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)		CCTGATGCCCCTGCCTGACAC	0.602000														59			20		0	0	1	0	0
MEMO1	51072	broad.mit.edu	37	2	32093518	32093518	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:32093518G>A	uc002rnx.3	-	8	1188	c.806C>T	c.(805-807)tCg>tTg	p.S269L	MEMO1_uc010ymu.2_Missense_Mutation_p.S246L|MEMO1_uc010ezq.3_Missense_Mutation_p.S269L|MEMO1_uc002rny.3_Non-coding_Transcript|MEMO1_uc002rnz.3_Non-coding_Transcript	NM_015955	NP_057039	Q9Y316	MEMO1_HUMAN	Homo sapiens mediator of cell motility 1 (MEMO1), transcript variant 1, mRNA.	269					regulation of microtubule-based process	cytosol|nucleus				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					ATTCAAAAACGAAAAACTCAT	0.423000														12			3		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92139273	92139273	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:92139273T>C	uc001xzs.1	-	12	1206	c.1066A>G	c.(1066-1068)Act>Gct	p.T356A	CATSPERB_uc010aub.1_5'Flank	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	356					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GTTAGCACAGTTGGAAAAATT	0.363000														99			53		0	0	1	0	0
SPATA6	54558	broad.mit.edu	37	1	48764537	48764537	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:48764537G>A	uc001crr.2	-	12	1511	c.1315C>T	c.(1315-1317)Cat>Tat	p.H439Y	SPATA6_uc001crs.2_Missense_Mutation_p.H423Y|SPATA6_uc010omv.2_Missense_Mutation_p.H425Y	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	Homo sapiens spermatogenesis associated 6 (SPATA6), mRNA.	439					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TCATCCAAATGGAAAGTGCCA	0.398000														94			65		0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52967407	52967407	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:52967407C>T	uc001sap.1	-	0	203	c.155G>A	c.(154-156)aGc>aAc	p.S52N		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	52	Gly-rich.|Head.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CCCTCCAAGGCTATAGAGGCT	0.622000														42			38		0	0	1	0	0
BC128131	0	broad.mit.edu	37	19	23159421	23159421	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:23159421A>G	uc002nqz.1	-	1	552	c.526T>C	c.(526-528)Ttc>Ctc	p.F176L	BC128131_uc002nqy.1_Non-coding_Transcript					Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371).																		AGGATTGAGAACTTACTAAAG	0.408000														28			20		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	95001394	95001394	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:95001394G>A	uc002btj.3	+	18	2344	c.2279G>A	c.(2278-2280)aGa>aAa	p.R760K	MCTP2_uc010boj.3_Missense_Mutation_p.R489K|MCTP2_uc010bok.3_Missense_Mutation_p.R705K|MCTP2_uc002btl.3_Missense_Mutation_p.R348K	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	760					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTGATTGAAAGAATCTATATG	0.299000														45			29		0	0	1	0	0
SOX13	9580	broad.mit.edu	37	1	204086823	204086824	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:204086823_204086824CC>TT	uc001ham.3	+	6	1358_1359	c.763_764CC>TT	c.(763-765)ccc>TTc	p.P255F	SOX13_uc001hal.3_Missense_Mutation_p.P255F|SOX13_uc010pqp.2_Missense_Mutation_p.P254F|SOX13_uc010pqq.2_Missense_Mutation_p.P122F	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.	255	Pro-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TCAGCCCATTCCCTGCAAACCA	0.574000														18			11		0	0	1	0	0
SPG20	23111	broad.mit.edu	37	13	36909302	36909302	+	Silent	SNP	A	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:36909302A>T	uc001uvn.3	-	2	936	c.666T>A	c.(664-666)atT>atA	p.I222I	SPG20_uc010ten.2_Silent_p.I222I|SPG20_uc001uvm.3_Silent_p.I222I|SPG20_uc001uvo.3_Silent_p.I222I|SPG20_uc001uvq.3_Silent_p.I222I|SPG20_uc001uvp.2_Silent_p.I222I	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	222					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTGGTATCAAAATCAATTCAT	0.433000														98			36		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13759047	13759047	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:13759047C>T	uc003jfd.2	-	60	10369	c.10327G>A	c.(10327-10329)Gat>Aat	p.D3443N	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3443	Stalk (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)					TTCTGCAGATCCTGCATGGCC	0.547000									Kartagener syndrome					228			58		0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86310220	86310221	+	Silent	DNP	GG	AA	AA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:86310220_86310221GG>AA	uc002sqs.3	-	6	1180_1181	c.801_802CC>TT	c.(799-804)gccctg>gcTTtg	p.267_268AL>AL		NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	267					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTCTTCCACAGGGCAGAAAGGT	0.450000														35			23		0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130270437	130270437	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:130270437G>A	uc004brh.3	-	11	1679	c.1477C>T	c.(1477-1479)Cgg>Tgg	p.R493W	FAM129B_uc004bri.3_Missense_Mutation_p.R480W|FAM129B_uc004brj.4_Missense_Mutation_p.R493W	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	493							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AGCGCCTCCCGGAAGAACCTC	0.632000														72			57		0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40247829	40247829	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:40247829G>T	uc001zkm.1	+	5	653	c.603G>T	c.(601-603)ttG>ttT	p.L201F	EIF2AK4_uc001zkl.3_Missense_Mutation_p.L201F|EIF2AK4_uc010bbj.1_5'UTR	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	201					translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGGAACGTTTGGAAATTGCTA	0.373000														7			23		3.62473e-10	3.67997e-10	1	1	0
RGPD4	285190	broad.mit.edu	37	2	108487281	108487281	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:108487281C>T	uc010ywk.2	+	19	2903	c.2821C>T	c.(2821-2823)Ctt>Ttt	p.L941F	RGPD4_uc002tdu.3_Missense_Mutation_p.L128F|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	941					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGAAAAGCCTCTTGAAAATGA	0.413000														34			124		0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47564925	47564925	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:47564925G>A	uc001cqu.1	+	7	1039	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	346						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TGAAATCAGGGAACTCCTAGG	0.448000														25			26		0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230398	56230398	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:56230398C>T	uc010rjj.2	-	0	480	c.480G>A	c.(478-480)tgG>tgA	p.W160*	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					AGCCATAAGTCCATAGTGTGC	0.438000														61			40		0	0	1	0	0
GMPS	8833	broad.mit.edu	37	3	155654153	155654153	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:155654153C>T	uc003faq.3	+	14	2169	c.1834C>T	c.(1834-1836)Ccg>Tcg	p.P612S	GMPS_uc011bom.2_Missense_Mutation_p.P513S	NM_003875	NP_003866	P49915	GUAA_HUMAN	Homo sapiens guanine monphosphate synthetase (GMPS), mRNA.	612					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	p.P612P(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAGCCAGATGCCGGTGATTTT	0.418000			T	MLL	AML									44			29		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42482945	42482945	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:42482945G>A	uc002osh.3	-	11	1597	c.1443C>T	c.(1441-1443)tcC>tcT	p.S481S	ATP1A3_uc010xwf.2_Silent_p.S492S|ATP1A3_uc010xwg.2_Silent_p.S451S|ATP1A3_uc002osg.3_Silent_p.S481S|ATP1A3_uc010xwh.2_Silent_p.S494S			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	481					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCTCATGGATGGAGAGCTGGG	0.652000														44			38		0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52822256	52822256	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:52822256G>A	uc001saj.2	-	6	1188	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	389	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TTGCAAGCTGGAACACTGTAA	0.577000														21			14		0	0	1	0	0
FASTKD1	79675	broad.mit.edu	37	2	170386370	170386370	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:170386370C>T	uc002uev.4	-	14	2897	c.2509G>A	c.(2509-2511)Gaa>Aaa	p.E837K	FASTKD1_uc002uew.4_Non-coding_Transcript|FASTKD1_uc002uex.4_Missense_Mutation_p.E780K	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	Homo sapiens FAST kinase domains 1 (FASTKD1), mRNA.	837	RAP.				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						AATATACATTCTCTCAGGTAG	0.338000														44			20		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122091463	122091463	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:122091463G>A	uc022akp.1	-	13	2663	c.2241C>T	c.(2239-2241)ctC>ctT	p.L747L	CADPS2_uc003vkg.4_Silent_p.L448L|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Silent_p.L748L|CADPS2_uc022akr.1_Silent_p.L751L	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	751					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AAAGGGAAGAGAGTCTCTCTT	0.303000														29			20		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212662	26212662	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:26212662C>T	uc022buc.1	+	0	699	c.699C>T	c.(697-699)ttC>ttT	p.F233F	MAGEB6_uc004dbr.3_Silent_p.F233F	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	233	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AGCCCTACTTCCCTCAGATCC	0.498000														22			57		0	0	1	0	0
USP45	85015	broad.mit.edu	37	6	99894074	99894074	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:99894074C>T	uc003ppx.2	-	13	2107	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E	USP45_uc003ppv.2_Intron|USP45_uc003ppw.2_Missense_Mutation_p.G205E	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	Homo sapiens ubiquitin specific peptidase 45 (USP45), mRNA.	525					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.G525*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CACACCGGATCCACTACTGGA	0.493000														46			37		0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216068	149216068	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:149216068C>T	uc003lrc.3	+	7	2141	c.2050C>T	c.(2050-2052)Ccc>Tcc	p.P684S	PPARGC1B_uc003lrb.2_Missense_Mutation_p.P684S|PPARGC1B_uc003lrd.3_Missense_Mutation_p.P645S|PPARGC1B_uc021yfr.1_Missense_Mutation_p.P620S|PPARGC1B_uc003lre.1_Missense_Mutation_p.P663S|PPARGC1B_uc003lrf.3_Missense_Mutation_p.P663S	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	684					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity	p.P684S(2)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCAGAAGCGTCCCTTCTCCTG	0.622000														70			76		0	0	1	0	0
SMARCD3	6604	broad.mit.edu	37	7	150937275	150937276	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:150937275_150937276CC>TT	uc003wjs.3	-	9	1196_1197	c.1095_1096GG>AA	c.(1093-1098)gaggag>gaAAag	p.E366K	SMARCD3_uc003wjt.3_Missense_Mutation_p.E353K|SMARCD3_uc003wju.3_Missense_Mutation_p.E353K	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 (SMARCD3), transcript variant 3, mRNA.	366					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTAATGGCTCCTCCACCTCCA	0.594000														48			36		0	0	1	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:153963239C>T	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGG	0.537000														38			31		0	0	1	0	0
PTGIR	5739	broad.mit.edu	37	19	47124837	47124837	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:47124837C>T	uc002pex.3	-	2	974	c.861G>A	c.(859-861)ctG>ctA	p.L287L		NM_000960	NP_000951	P43119	PI2R_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) receptor (IP) (PTGIR), mRNA.	287					G-protein signaling, coupled to cyclic nucleotide second messenger|cell-cell signaling|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	CCCAGGGGTCCAGGATGGGGT	0.632000														63			40		0	0	1	0	0
INO80C	125476	broad.mit.edu	37	18	33077797	33077797	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:33077797G>A	uc010dmt.3	-	0	159	c.42C>T	c.(40-42)ccC>ccT	p.P14P	INO80C_uc002kyw.1_Silent_p.P14P|INO80C_uc002kyx.4_5'Flank|INO80C_uc002kyy.4_Silent_p.P14P	NM_001098817	NP_001092287	Q6PI98	IN80C_HUMAN	Homo sapiens INO80 complex subunit C (INO80C), transcript variant 1, mRNA.	14					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						GGACTATTCCGGGAGTGGAAG	0.607000														7			9		0	0	1	0	0
SSBP2	23635	broad.mit.edu	37	5	80770324	80770324	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:80770324G>A	uc003khp.3	-	6	701	c.490C>T	c.(490-492)Cga>Tga	p.R164*	SSBP2_uc003khn.3_Nonsense_Mutation_p.R38*|SSBP2_uc011ctr.2_Nonsense_Mutation_p.R134*|SSBP2_uc003kho.3_Nonsense_Mutation_p.R164*|SSBP2_uc011ctp.2_Nonsense_Mutation_p.R144*|SSBP2_uc011ctq.2_Nonsense_Mutation_p.R134*	NM_012446	NP_036578	P81877	SSBP2_HUMAN	Homo sapiens single-stranded DNA binding protein 2 (SSBP2), mRNA.	164	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		CCTTGTTGTCGAGTTGGATCC	0.348000														31			22		0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233750226	233750226	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:233750226C>T	uc010pxo.1	+	0	477	c.309C>T	c.(307-309)gaC>gaT	p.D103D		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	103						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	GGAACTGGGACTTCACCTCCG	0.677000														10			13		0	0	1	0	0
PDCD10	11235	broad.mit.edu	37	3	167405098	167405098	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:167405098C>A	uc003fez.3	-	6	655	c.481G>T	c.(481-483)Gaa>Taa	p.E161*	PDCD10_uc003fex.3_Nonsense_Mutation_p.E161*|PDCD10_uc003fey.3_Nonsense_Mutation_p.E161*	NM_145860	NP_665859	Q9BUL8	PDC10_HUMAN	Homo sapiens programmed cell death 10 (PDCD10), transcript variant 3, mRNA.	161					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of MAP kinase activity|positive regulation of cell proliferation	Golgi membrane|cytosol|plasma membrane	protein N-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						TTTTGGTGTTCAAGTGCCTAC	0.308000														29			6		3.59834e-05	3.62554e-05	1	1	0
TRIM46	80128	broad.mit.edu	37	1	155148665	155148665	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:155148665C>T	uc001fhs.1	+	2	710	c.627C>T	c.(625-627)gcC>gcT	p.A209A	KRTCAP2_uc001fho.3_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc010pez.1_Silent_p.A196A|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Silent_p.A209A|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Silent_p.A83A|TRIM46_uc001fhu.1_Silent_p.A186A|TRIM46_uc009wpg.1_Silent_p.A196A|TRIM46_uc009wpf.2_3'UTR|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	209						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCAGAAGGCCCAGCATGAGC	0.657000														58			37		0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51914469	51914469	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:51914469C>T	uc002pwo.3	-	10	2200	c.1978G>A	c.(1978-1980)Gag>Aag	p.E660K	SIGLEC10_uc002pwp.3_Missense_Mutation_p.E602K|SIGLEC10_uc021uyl.1_Missense_Mutation_p.E482K|SIGLEC10_uc002pwq.3_Missense_Mutation_p.E507K|SIGLEC10_uc010ycz.2_Missense_Mutation_p.E517K|SIGLEC10_uc002pws.2_Missense_Mutation_p.E417K|SIGLEC10_uc002pwr.3_Missense_Mutation_p.E565K|SIGLEC10_uc010ycy.2_Missense_Mutation_p.E475K|SIGLEC10_uc010eow.3_Missense_Mutation_p.E377K	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	660					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TCTTGGCTCTCCTGGGATTCT	0.562000														116			91		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280121	152280121	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:152280121A>G	uc001ezu.1	-	2	7277	c.7241T>C	c.(7240-7242)tTc>tCc	p.F2414S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2414	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)			CTGGTAGAGGAAAGACCCTGA	0.612000									Ichthyosis					220			141		0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55785911	55785911	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:55785911C>T	uc002rzc.3	-	16	3146	c.2454_splice	c.e16+1	p.K818_splice	SMEK2_uc002rzb.3_Splice_Site_p.K733_splice|SMEK2_uc002rzd.3_Splice_Site_p.K786_splice|SMEK2_uc002ryz.3_Splice_Site_p.K245_splice|SMEK2_uc002rza.3_Splice_Site_p.K602_splice	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	818						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)			TTTCACCTACCTTGGTGGCTG	0.378000														139			79		0	0	1	0	0
ZNF557	79230	broad.mit.edu	37	19	7081464	7081464	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:7081464C>T	uc002mga.3	+	5	826	c.341C>T	c.(340-342)cCa>cTa	p.P114L	ZNF557_uc002mgb.3_Missense_Mutation_p.P107L|ZNF557_uc002mgc.3_Missense_Mutation_p.P114L	NM_024341	NP_077317	Q8N988	ZN557_HUMAN	Homo sapiens zinc finger protein 557 (ZNF557), transcript variant 1, mRNA.	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GGTACCTGTCCAGGTGAGCAC	0.458000														17			11		0	0	1	0	0
PPP2R3C	55012	broad.mit.edu	37	14	35560353	35560353	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:35560353G>A	uc001wss.3	-	10	1390	c.1036C>T	c.(1036-1038)Cta>Tta	p.L346L	PPP2R3C_uc001wst.3_Silent_p.L230L|PPP2R3C_uc010tpr.2_Silent_p.L230L|PPP2R3C_uc001wsu.3_Non-coding_Transcript	NM_017917	NP_060387	Q969Q6	P2R3C_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', gamma (PPP2R3C), mRNA.	346	EF-hand 2.					centrosome|nucleus	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		ATATATTGTAGAGCTGCAGGT	0.343000														39			17		0	0	1	0	0
CAP1	10487	broad.mit.edu	37	1	40535481	40535481	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:40535481T>C	uc009vvz.3	+	8	1142	c.928T>C	c.(928-930)Tcc>Ccc	p.S310P	CAP1_uc010oje.2_Missense_Mutation_p.S227P|CAP1_uc001cfa.4_Missense_Mutation_p.S310P|CAP1_uc001cey.4_Missense_Mutation_p.S310P|CAP1_uc001cez.4_Missense_Mutation_p.S310P	NM_006367	NP_006358	Q01518	CAP1_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein 1 (yeast) (CAP1), transcript variant 1, mRNA.	310					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACCAGCCCATCCCCCAAACG	0.522000														42			8		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120810	94120810	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:94120810G>A	uc003poe.3	-	2	482	c.241C>T	c.(241-243)Caa>Taa	p.Q81*	EPHA7_uc003pof.3_Nonsense_Mutation_p.Q81*|EPHA7_uc011eac.2_Nonsense_Mutation_p.Q81*|EPHA7_uc003pog.4_Nonsense_Mutation_p.Q81*	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	81						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CAGTTGTTTTGGTTGGGCTCC	0.428000														126			59		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19070893	19070893	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:19070893G>A	uc002dfp.2	+	14	2313	c.2183G>A	c.(2182-2184)tGg>tAg	p.W728*	TMC7_uc002dfq.3_Intron|TMC7_uc010vap.2_Intron	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	117						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTGTTTTCCTGGGAGGGAGTG	0.537000														3			11		0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45475630	45475630	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr21:45475630C>T	uc002zea.3	+	4	703	c.534C>T	c.(532-534)tcC>tcT	p.S178S	TRAPPC10_uc010gpo.3_5'UTR|TRAPPC10_uc002zdz.3_Silent_p.S178S	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	178					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CTCAGGAATCCTGGAATGCCT	0.473000														133			76		0	0	1	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242741286	242741287	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:242741286_242741287CC>TT	uc002wcj.1	+	2	341_342	c.210_211CC>TT	c.(208-213)atcctc>atTTtc	p.L71F		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 2 (GAL3ST2), mRNA.	71					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGCTCAACATCCTCTACCGCTT	0.668000														19			41		0	0	1	0	0
TEKT3	64518	broad.mit.edu	37	17	15234840	15234840	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:15234840G>C	uc002gon.3	-	2	250	c.63C>G	c.(61-63)aaC>aaG	p.N21K		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	Homo sapiens tektin 3 (TEKT3), mRNA.	21					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CTGGTAGAAAGTTGGTTGGTG	0.478000														55			19		0	0	1	0	0
C20orf112	140688	broad.mit.edu	37	20	31041379	31041379	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:31041379G>A	uc002wxu.4	-	4	730	c.573_splice	c.e4+1	p.N191_splice		NM_080616	NP_542183	Q96MY1	CT112_HUMAN	Homo sapiens chromosome 20 open reading frame 112 (C20orf112), mRNA.	191										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CGGTGCTCACGTTGAAGGCCT	0.582000														35			15		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038840	75038840	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:75038840C>T	uc001dgg.3	-	13	2773	c.2554G>A	c.(2554-2556)Ggt>Agt	p.G852S		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	852	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCCCCTTCACCCAGCCTTCTG	0.532000														107			72		0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5496342	5496342	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:5496342G>A	uc001iia.3	+	8	1021	c.883G>A	c.(883-885)Gag>Aag	p.E295K	NET1_uc010qar.2_Missense_Mutation_p.E114K|NET1_uc001iib.3_Missense_Mutation_p.E241K|NET1_uc010qas.2_Missense_Mutation_p.E114K	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	Homo sapiens neuroepithelial cell transforming 1 (NET1), transcript variant 1, mRNA.	295	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell growth|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						GCGATGTCTCGAGTCTCCCTT	0.433000														47			29		0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4575311	4575311	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:4575311G>A	uc002fyi.4	-	15	3201	c.2975C>T	c.(2974-2976)cCc>cTc	p.P992L	PELP1_uc010vsf.2_Intron	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	992	Glu-rich.|Pro-rich.				transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CACCTTTGGGGGAGACTCAGG	0.642000														6			8		0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5153888	5153889	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:5153888_5153889CC>TT	uc001qni.3	+	0	804_805	c.575_576CC>TT	c.(574-576)tcc>tTT	p.S192F		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	192						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GTCAACGTCTCCCTGGACGTGT	0.614000														43			35		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110510754	110510754	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:110510754C>T	uc003yne.3	+	65	10767	c.10663C>T	c.(10663-10665)Cct>Tct	p.P3555S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3555					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TAATGATGATCCTAATATTGA	0.348000										HNSCC(38;0.096)				60			23		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857030	9857030	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:9857030C>A	uc010uym.2	-	13	4681	c.4371G>T	c.(4369-4371)atG>atT	p.M1457I	GRIN2A_uc002czo.4_Missense_Mutation_p.M1457I|GRIN2A_uc010uyn.2_3'UTR|GRIN2A_uc002czr.4_3'UTR	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1457					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGATACTAGGCATTTTCTTGT	0.368000														11			18		1.99824e-07	2.02291e-07	1	1	0
ACAD10	80724	broad.mit.edu	37	12	112187078	112187079	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:112187078_112187079CC>TT	uc009zvx.3	+	18	3039_3040	c.2839_2840CC>TT	c.(2839-2841)ccc>TTc	p.P947F	ACAD10_uc001tsq.3_Missense_Mutation_p.P916F|ACAD10_uc001tss.1_Intron	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	916							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CAGACTGGGCCCCGGCAGGATC	0.629000														21			63		0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65022098	65022098	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:65022098C>T	uc002eoi.3	-	6	1395	c.961G>A	c.(961-963)Gac>Aac	p.D321N	CDH11_uc010cdn.3_Intron|CDH11_uc002eoj.3_Missense_Mutation_p.D321N|CDH11_uc010vin.2_Missense_Mutation_p.D195N	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	321	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.T320M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GTTTCATAGTCCGTTGTGATT	0.438000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				42			92		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107179246	107179246	+	RNA	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:107179246G>A	uc021ser.1	-	36		c.2178C>T								Parts of antibodies, mostly variable regions.																		CAGGAGCGTGGAACAAAGTAT	0.517000														30			14		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35993912	35993912	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:35993912G>A	uc004ddj.3	+	14	2661	c.2595G>A	c.(2593-2595)atG>atA	p.M865I	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	865										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GCTTCTTCATGAAAACATGTT	0.438000														39			83		0	0	1	0	0
TP73-AS1	57212	broad.mit.edu	37	1	3659650	3659650	+	RNA	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:3659650G>A	uc001akt.4	-	2		c.1165C>T			TP73-AS1_uc021ofj.1_Non-coding_Transcript|TP73-AS1_uc021ofk.1_Non-coding_Transcript|TP73-AS1_uc021ofl.1_Non-coding_Transcript|TP73-AS1_uc009vlm.3_Non-coding_Transcript					Homo sapiens TP73 antisense RNA 1 (non-protein coding) (TP73-AS1), transcript variant 5, non-coding RNA.																		AAGCCGGAGAGGCCGCCGGGA	0.582000														1			6		0	0	1	0	0
CCDC36	339834	broad.mit.edu	37	3	49292840	49292840	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:49292840G>A	uc003cwk.2	+	8	937	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	CCDC36_uc011bck.1_Missense_Mutation_p.A184T	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	Homo sapiens coiled-coil domain containing 36 (CCDC36), transcript variant 1, mRNA.	184										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		GACTATACAGGCCCAGAATGA	0.458000														43			41		0	0	1	0	0
MPP1	4354	broad.mit.edu	37	X	154009980	154009980	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:154009980G>A	uc004fmp.2	-	9	1198	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	MPP1_uc011mzv.2_Silent_p.F318F|MPP1_uc010nvg.2_Silent_p.F328F|MPP1_uc011mzw.2_Silent_p.F331F	NM_002436	NP_002427	Q00013	EM55_HUMAN	Homo sapiens membrane protein, palmitoylated 1, 55kDa (MPP1), transcript variant 1, mRNA.	348	Guanylate kinase-like.|Interaction with MPP5.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding	p.F348F(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAAACTCCAAGAACTCATTGG	0.478000														55			126		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106653614	106653614	+	RNA	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:106653614G>A	uc021ser.1	-	1432		c.28629C>T								Parts of antibodies, mostly variable regions.																		AGAGTCTCAGGGACCCCCCAG	0.562000														79			60		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33704223	33704223	+	Silent	SNP	G	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:33704223G>T	uc001uuw.3	-	4	717	c.591C>A	c.(589-591)tcC>tcA	p.S197S	STARD13_uc001uuu.3_Silent_p.S189S|STARD13_uc001uuv.3_Silent_p.S79S|STARD13_uc001uux.3_Silent_p.S162S|STARD13_uc010abh.1_Silent_p.S182S|STARD13_uc021rhz.1_Silent_p.S189S|STARD13_uc021ria.1_Silent_p.S79S	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	197					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CGCTGTGAATGGAGCAGACCT	0.622000														40			12		9.31168e-06	9.39097e-06	1	1	0
EHBP1L1	254102	broad.mit.edu	37	11	65343827	65343827	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:65343827C>T	uc001oeo.4	+	0	319	c.54C>T	c.(52-54)ttC>ttT	p.F18F		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	18										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CGGCCAAGTTCCAGTTCGTGG	0.682000														7			3		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142119896	142119896	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:142119896C>T	uc022anf.1	-	1	315	c.286G>A	c.(286-288)Gga>Aga	p.G96R	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022ane.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GAGATGGATCCCTCAGGCCTC	0.567000														55			38		0	0	1	0	0
PROP1	5626	broad.mit.edu	37	5	177419761	177419761	+	Silent	SNP	T	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:177419761T>G	uc003mif.1	-	2	939	c.630A>C	c.(628-630)ccA>ccC	p.P210P		NM_006261	NP_006252	O75360	PROP1_HUMAN	Homo sapiens PROP paired-like homeobox 1 (PROP1), mRNA.	210					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			TGGGAGGGGGTGGGGGGCAGG	0.637000														12			4		0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68620305	68620305	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:68620305G>A	uc002sen.4	+	6	936	c.774G>A	c.(772-774)agG>agA	p.R258R	PLEK_uc010fde.3_Silent_p.R258R	NM_002664	NP_002655	P08567	PLEK_HUMAN	Homo sapiens pleckstrin (PLEK), mRNA.	258	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GGCATAGAAGGAAAAACTGGA	0.428000														127			54		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73377105	73377105	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:73377105C>T	uc001jrx.4	+	10	1479	c.1089C>T	c.(1087-1089)gtC>gtT	p.V363V	CDH23_uc001jrw.4_Silent_p.V363V|CDH23_uc001jry.3_Silent_p.V363V|CDH23_uc001jrz.3_Silent_p.V363V|CDH23_uc021psl.1_Silent_p.V363V|CDH23_uc009xql.3_Silent_p.V363V	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	363	Cadherin 4.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGCACAGGTCGGCTTTGCCC	0.562000														31			25		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534729	55534729	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:55534729G>A	uc003xsd.1	+	2	816	c.668G>A	c.(667-669)gGa>gAa	p.G223E	RP1_uc011ldy.1_Missense_Mutation_p.G223E	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	223	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.G223V(2)|p.G223G(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTGGCGGCAGGAAGGGAGCCA	0.478000														35			19		0	0	1	0	0
PDLIM3	27295	broad.mit.edu	37	4	186429591	186429591	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:186429591G>A	uc003ixw.4	-	4	648	c.524C>T	c.(523-525)cCt>cTt	p.P175L	PDLIM3_uc003ixx.4_Intron|PDLIM3_uc010isi.3_Intron	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	Homo sapiens PDZ and LIM domain 3 (PDLIM3), transcript variant 1, mRNA.	175						sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CATTTCCAAAGGAATGTTAGG	0.463000														60			23		0	0	1	0	0
CYYR1	116159	broad.mit.edu	37	21	27938585	27938585	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr21:27938585G>A	uc002yme.3	-	2	498	c.176_splice	c.e2+1	p.S59_splice	CYYR1_uc002ymd.3_Splice_Site_p.S59_splice|CYYR1_uc011ack.2_Splice_Site	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA.	59						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GAATACTCACGAGAGGATATT	0.433000														22			10		0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209782415	209782415	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:209782415C>T	uc001hhd.3	+	7	828	c.726C>T	c.(724-726)ttC>ttT	p.F242F	CAMK1G_uc001hhf.4_Silent_p.F242F|CAMK1G_uc001hhe.3_Silent_p.F242F	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	242	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AGTCTCCATTCTGGGATGACA	0.478000														118			61		0	0	1	0	0
SFPQ	6421	broad.mit.edu	37	1	35656577	35656577	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:35656577T>A	uc001bys.3	-	2	1130	c.1037A>T	c.(1036-1038)gAa>gTa	p.E346V		NM_005066	NP_005057	P23246	SFPQ_HUMAN	Homo sapiens splicing factor proline/glutamine-rich (SFPQ), mRNA.	346	RRM 1.				DNA recombination|DNA repair|alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|nucleotide binding|protein binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TTTGGCAATTTCAGCCAAAGC	0.438000			T	TFE3	papillary renal cell									5			16		0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14190064	14190065	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:14190064_14190065GG>AA	uc011ave.2	-	12	2521_2522	c.2417_2418CC>TT	c.(2416-2418)ccc>cTT	p.P806L	XPC_uc011avf.2_Missense_Mutation_p.P613L|XPC_uc011avg.2_Missense_Mutation_p.P769L	NM_004628	NP_004619	Q01831	XPC_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA.	806	DNA-binding; preference for single stranded DNA; required for formation of stable nucleoprotein complex.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	XPC complex|cytoplasm|nucleoplasm	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCACGCACACGGGATGGGAGTA	0.609000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					21			17		0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74878370	74878370	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:74878370C>T	uc002jti.3	+	1	455	c.352C>T	c.(352-354)Ccc>Tcc	p.P118S	MGAT5B_uc002jtg.4_Missense_Mutation_p.P107S|MGAT5B_uc002jth.3_Missense_Mutation_p.P107S	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	107						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGCACTTTCCCGCAGACAG	0.662000														15			15		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128341804	128341804	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:128341804G>A	uc002top.3	+	12	1504	c.1451G>A	c.(1450-1452)tGg>tAg	p.W484*		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	484	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AACATCTCCTGGGACTATATC	0.577000														44			36		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720735	140720735	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140720735A>G	uc003ljk.2	+	0	2382	c.2197A>G	c.(2197-2199)Aca>Gca	p.T733A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dao.2_Missense_Mutation_p.T733A|PCDHGC5_uc011dap.2_5'Flank	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	731					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAGCTTGACAGGCATGCA	0.637000														129			57		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140801406	140801406	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140801406G>A	uc003lkq.2	+	0	870	c.612G>A	c.(610-612)gaG>gaA	p.E204E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Silent_p.E204E|PCDHGC5_uc003lkp.2_Silent_p.E204E	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	203	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCGAGAGAAAGAGGCTG	0.547000														35			25		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195497107	195497107	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:195497107G>A	uc021xjp.1	-	5	13534	c.13378C>T	c.(13378-13380)Cct>Tct	p.P4460S	MUC4_uc003fuz.3_Intron|MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_Silent_p.I5I|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Silent_p.I5I|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.P24S|MUC4_uc021xjj.1_Missense_Mutation_p.P24S|MUC4_uc021xjk.1_Missense_Mutation_p.P201S|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Missense_Mutation_p.P224S|MUC4_uc003fvp.3_Missense_Mutation_p.P173S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1217					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACTGGGCAGGATAGGCGTGG	0.592000														10			6		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17468991	17468991	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:17468991G>A	uc002zlw.3	-	2	653	c.545C>T	c.(544-546)tCc>tTc	p.S182F	GAB4_uc010gqs.1_Missense_Mutation_p.S165F	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	182										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GTGCTGATGGGAGCAGCTGGG	0.602000														41			22		0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78011251	78011251	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:78011251C>T	uc022bzj.1	+	0	885	c.885C>T	c.(883-885)atC>atT	p.I295I	LPAR4_uc010nme.3_Silent_p.I295I	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	295						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TGTACCCAATCACCTTGTGCC	0.423000														17			60		0	0	1	0	0
PIGU	128869	broad.mit.edu	37	20	33173355	33173355	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:33173355A>T	uc002xas.3	-	8	1012	c.812T>A	c.(811-813)aTt>aAt	p.I271N	PIGU_uc010zul.2_Missense_Mutation_p.I271N|PIGU_uc002xat.3_Missense_Mutation_p.I251N|PIGU_uc010gev.1_Non-coding_Transcript	NM_080476	NP_536724	Q9H490	PIGU_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class U (PIGU), mRNA.	271	May be involved in recognition of long- chain fatty acids in GPI.				C-terminal protein lipidation|attachment of GPI anchor to protein|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						GAAAAGACCAATGTTTGGAGT	0.378000														125			83		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25284645	25284645	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:25284645C>T	uc010aaa.3	+	19	3162	c.2829C>T	c.(2827-2829)ttC>ttT	p.F943F	ATP12A_uc001upp.3_Silent_p.F937F	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	937					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.L942P(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ACACGGCTTtctttgttggca	0.493000														92			51		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45454088	45454088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:45454088C>T	uc001zus.1	+	30	4355	c.4009C>T	c.(4009-4011)Cgg>Tgg	p.R1337W	DUOX1_uc001zut.1_Missense_Mutation_p.R1337W|DUOX1_uc010bee.1_Missense_Mutation_p.R717W	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	1337	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCTGCACATCCGGGCAGCAGG	0.642000														16			30		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544905	82544905	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:82544905G>A	uc003uhx.2	-	6	12686	c.12397C>T	c.(12397-12399)Cgt>Tgt	p.R4133C	PCLO_uc003uhv.2_Missense_Mutation_p.R4133C|PCLO_uc010lec.3_Missense_Mutation_p.R1098C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4064					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCCCTCTACGAAATTCCTGT	0.408000														67			46		0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135660	156135660	+	Missense_Mutation	SNP	C	T	T	rs151197683	by1000genomes	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:156135660C>T	uc003ioq.3	+	1	1058	c.569C>T	c.(568-570)tCg>tTg	p.S190L	NPY2R_uc003ior.3_Missense_Mutation_p.S190L|NPY2R_uc021xtm.1_Missense_Mutation_p.S190L	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	190					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.S190S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CGGGAGTATTCGCTGATTGAG	0.527000														37			47		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64483905	64483905	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:64483905C>T	uc003jtp.3	-	21	3662	c.2848G>A	c.(2848-2850)Gaa>Aaa	p.E950K	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	950	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GGCTCTTTTTCGACAGGCCGG	0.507000														99			115		0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132262764	132262764	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:132262764G>T	uc001uja.1	+	13	2437	c.2297G>T	c.(2296-2298)cGa>cTa	p.R766L	SFSWAP_uc010tbn.1_Missense_Mutation_p.R766L|SFSWAP_uc001ujb.1_Missense_Mutation_p.R559L	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.	766					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AAAAGATCTCGAACAAGATCA	0.428000														8			20		3.99206e-14	4.06839e-14	1	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113518083	113518083	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:113518083C>T	uc010ljy.1	-	3	3095	c.3064G>A	c.(3064-3066)Gaa>Aaa	p.E1022K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	1022					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTGCTTCTTCCATATTCTCA	0.388000														91			77		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62290459	62290459	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:62290459G>A	uc001ntl.3	-	4	11730	c.11430C>T	c.(11428-11430)ccC>ccT	p.P3810P	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3810					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)				TGCTGAACTTGGGCATTTTCA	0.522000														314			171		0	0	1	0	0
THUMPD3	25917	broad.mit.edu	37	3	9424968	9424968	+	Missense_Mutation	SNP	G	A	A	rs77084156		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:9424968G>A	uc003bro.4	+	7	1358	c.1210G>A	c.(1210-1212)Gta>Ata	p.V404I	LOC440944_uc003brm.3_Intron|THUMPD3_uc003brn.4_Missense_Mutation_p.V404I	NM_001114092	NP_056268	Q9BV44	THUM3_HUMAN	Homo sapiens THUMP domain containing 3 (THUMPD3), transcript variant 2, mRNA.	404							RNA binding|methyltransferase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		GGATATTATTGTAACAGATTT	0.413000														23			28		0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14024387	14024388	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:14024387_14024388GG>AA	uc002mxo.2	+	5	983_984	c.684_685GG>AA	c.(682-687)ctggag>ctAAag	p.E229K	CC2D1A_uc002mxn.2_Missense_Mutation_p.E128K|CC2D1A_uc002mxp.2_Missense_Mutation_p.E229K|CC2D1A_uc010dzh.2_5'UTR	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	229	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGGTCACCCTGGAGGGACCTTC	0.673000														35			27		0	0	1	0	0
SMCR7L	54471	broad.mit.edu	37	22	39907930	39907930	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:39907930C>T	uc003axw.3	+	3	718	c.221C>T	c.(220-222)cCc>cTc	p.P74L	SMCR7L_uc010gxz.1_5'UTR|SMCR7L_uc003axx.3_Missense_Mutation_p.P74L|SMCR7L_uc003axy.3_5'UTR	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7-like (SMCR7L), nuclear gene encoding mitochondrial protein, mRNA.	74						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					TGGGAAGAACCCAACTGGATG	0.602000														96			83		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834450	101834450	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:101834450C>T	uc003knn.3	-	0	271	c.99G>A	c.(97-99)agG>agA	p.R33R	SLCO6A1_uc003kno.3_Silent_p.R33R|SLCO6A1_uc003knp.3_Silent_p.R33R|SLCO6A1_uc003knq.3_Silent_p.R33R	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	33						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCTTGGCCCTCCTGTCCTTAG	0.607000														245			107		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141721530	141721530	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:141721530C>T	uc003vwy.3	+	5	757	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	235	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAGCAACAATCGTGTTTTGTA	0.433000														93			42		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924867	188924867	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:188924867G>A	uc003izh.1	+	3	1314	c.906G>A	c.(904-906)acG>acA	p.T302T	ZFP42_uc003izi.1_Silent_p.T302T|ZFP42_uc021xvm.1_Silent_p.T302T	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	302					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		ATGCAAATACGAACAAGAATG	0.428000														59			8		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43106993	43106993	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:43106993C>T	uc011dve.1	+	8	1548	c.1506C>T	c.(1504-1506)gcC>gcT	p.A502A	PTK7_uc003oub.1_Silent_p.A494A|PTK7_uc003ouc.1_Silent_p.A494A|PTK7_uc003oud.1_Silent_p.A494A|PTK7_uc003oue.1_Intron|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	494					actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.K501N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGGCGCAAGCCCGTGTCCAAG	0.622000														51			23		0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95385332	95385332	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:95385332G>A	uc001kiu.4	+	5	1003	c.865_splice	c.e5-1	p.E289_splice		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	289	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTGCCTCCAGGAATTCTACGA	0.378000														7			22		0	0	1	0	0
OGFRL1	79627	broad.mit.edu	37	6	72011711	72011712	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:72011711_72011712CC>TT	uc003pfx.1	+	6	1478_1479	c.1315_1316CC>TT	c.(1315-1317)cct>TTt	p.P439F		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	Homo sapiens opioid growth factor receptor-like 1 (OGFRL1), mRNA.	439						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						CAATGAAAATCCTGGAAATACA	0.366000														104			59		0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67682087	67682087	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:67682087G>A	uc002etn.3	+	13	1324	c.1204G>A	c.(1204-1206)Gga>Aga	p.G402R	RLTPR_uc010cel.1_Missense_Mutation_p.G402R|RLTPR_uc010vjr.2_Intron	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	402										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTGGAGGGCGGGACGGGGAGG	0.692000														10			17		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55626539	55626539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:55626539C>T	uc010qhy.1	-	27	3990	c.3595G>A	c.(3595-3597)Gga>Aga	p.G1199R	PCDH15_uc010qhq.2_Missense_Mutation_p.G1199R|PCDH15_uc010qhr.2_Missense_Mutation_p.G1194R|PCDH15_uc021pqv.1_Missense_Mutation_p.G1194R|PCDH15_uc021pqw.1_Missense_Mutation_p.G1206R|PCDH15_uc010qht.2_Missense_Mutation_p.G1201R|PCDH15_uc021pqx.1_Missense_Mutation_p.G1194R|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.G1194R|PCDH15_uc021pqz.1_Missense_Mutation_p.G1172R|PCDH15_uc010qhv.1_Missense_Mutation_p.G1194R|PCDH15_uc010qhw.1_Missense_Mutation_p.G1157R|PCDH15_uc010qhx.1_Missense_Mutation_p.G1123R|PCDH15_uc010qhz.1_Missense_Mutation_p.G1194R|PCDH15_uc010qia.1_Missense_Mutation_p.G1172R|PCDH15_uc001jju.1_Missense_Mutation_p.G1194R|PCDH15_uc010qib.1_Missense_Mutation_p.G1172R	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1194	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	p.G1199*(2)|p.G1194*(2)		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)				ACTACAAATCCTTCTTTTCCC	0.378000										HNSCC(58;0.16)				63			33		0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110791115	110791115	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:110791115C>A	uc003hzx.4	+	2	1268	c.1075C>A	c.(1075-1077)Cct>Act	p.P359T	LRIT3_uc003hzw.4_Missense_Mutation_p.P221T	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	359	Ser-rich.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		tactttgtctcctccctctac	0.473000														32			32		1.80694e-10	1.83623e-10	1	1	0
AKAP17A	8227	broad.mit.edu	37	X	1719913	1719913	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:1719913C>T	uc004cqa.3	+	4	1710	c.1514C>T	c.(1513-1515)gCc>gTc	p.A505V	AKAP17A_uc004cqb.3_Non-coding_Transcript|ASMT_uc004cqd.3_Intron	NM_005088	NP_005079	Q02040	AK17A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 17A (AKAP17A), transcript variant 1, mRNA.	505					B cell activation|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|signal transduction	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CACCCAGAGGCCGACGGCGCT	0.716000														6			9		0	0	1	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	A	A	rs145791878	by1000genomes	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:89774252G>A	uc010rua.2	+	7	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N		NM_001195234	NP_001182163	P0CI26	T49L2_HUMAN	Homo sapiens tripartite motif containing 49-like 2 (TRIM49L2), mRNA.	298	B30.2/SPRY.					intracellular	zinc ion binding	p.S298N(6)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323000														21			3		0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43052891	43052891	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:43052891G>A	uc002xma.3	+	7	1215	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	HNF4A_uc002xlt.3_Missense_Mutation_p.G354R|HNF4A_uc002xlu.3_Missense_Mutation_p.G354R|HNF4A_uc002xlv.3_Missense_Mutation_p.G354R|HNF4A_uc002xly.3_Missense_Mutation_p.G376R|HNF4A_uc010ggq.3_Missense_Mutation_p.G369R|HNF4A_uc002xlz.3_Missense_Mutation_p.G376R	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	376					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GATGCTGCTGGGAGGTCCGTG	0.607000														21			9		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23768735	23768735	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:23768735G>A	uc003sws.4	+	5	417	c.350G>A	c.(349-351)gGa>gAa	p.G117E	STK31_uc003swt.4_Missense_Mutation_p.G94E|STK31_uc011jze.2_Missense_Mutation_p.G117E|STK31_uc010kuq.3_Missense_Mutation_p.G94E	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	117	Tudor.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATTGACTATGGAAATACTGAA	0.358000														44			33		0	0	1	0	0
CCDC77	84318	broad.mit.edu	37	12	542364	542364	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:542364G>A	uc001qig.3	+	8	877	c.697G>A	c.(697-699)Gga>Aga	p.G233R	CCDC77_uc009zdk.3_Missense_Mutation_p.G201R|CCDC77_uc010sdp.2_Missense_Mutation_p.G201R|CCDC77_uc010sdq.2_Missense_Mutation_p.G201R	NM_032358	NP_001123620	Q9BR77	CCD77_HUMAN	Homo sapiens coiled-coil domain containing 77 (CCDC77), transcript variant 1, mRNA.	233						centrosome		p.L232_G233insGR(4)		cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			GGCTCAGCTGGGAGAGCAGAC	0.483000														101			64		0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113753770	113753770	+	Splice_Site	SNP	A	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:113753770A>G	uc003eax.3	-	6	965	c.818_splice	c.e6+1	p.I273_splice	KIAA1407_uc011bin.1_Splice_Site|KIAA1407_uc011bio.1_Splice_Site_p.I251_splice|KIAA1407_uc011bip.1_Splice_Site_p.I260_splice	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	273										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ACACTGGCTTACATTTTCCAT	0.428000														120			54		0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100374001	100374001	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:100374001C>T	uc003duc.3	+	11	1970	c.1702C>T	c.(1702-1704)Ctt>Ttt	p.L568F	GPR128_uc011bhc.2_Missense_Mutation_p.L269F|GPR128_uc003dud.3_Missense_Mutation_p.L91F	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	568					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GCATTTCATTCTTTTCATCTC	0.388000														64			31		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10969106	10969106	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr21:10969106C>T	uc002yip.1	-	6	510	c.142G>A	c.(142-144)Gga>Aga	p.G48R	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Intron|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	48					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGGGCTGCTCCTTTAAATTCA	0.468000														168			54		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296333	20296333	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:20296333C>T	uc010tkv.2	+	0	726	c.726C>T	c.(724-726)acC>acT	p.T242T		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CGTGCATCACCCATATCATTG	0.493000														54			53		0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20576416	20576416	+	Silent	SNP	A	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:20576416A>T	uc002kua.3	+	12	2142	c.2019A>T	c.(2017-2019)atA>atT	p.I673I	RBBP8_uc002ktw.3_Silent_p.I673I|RBBP8_uc002kty.3_Silent_p.I673I|RBBP8_uc002ktz.3_Silent_p.I673I|RBBP8_uc010xap.2_Silent_p.I6I	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	673					DNA double-strand break processing involved in repair via single-strand annealing|cell cycle checkpoint|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TTACTGTAATAGATACAAAGG	0.358000								Homologous recombination						6			15		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23884229	23884229	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:23884229C>T	uc001wjx.3	-	36	5640	c.5534G>A	c.(5533-5535)cGg>cAg	p.R1845Q		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1845			R -> W (in MYOMS and SPMM; dbSNP:rs28933098).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTTGATGCGCCGCTCGCTCTT	0.627000														137			107		0	0	1	0	0
PHF2P1	266695	broad.mit.edu	37	13	19630608	19630608	+	RNA	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:19630608C>T	uc001umb.1	-	6		c.949G>A								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		AAGCCCAGCCCGTCTTTCTTA	0.577000														14			10		0	0	1	0	0
PRUNE	58497	broad.mit.edu	37	1	150998120	150998120	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:150998120C>T	uc001ewh.1	+	4	786	c.650C>T	c.(649-651)tCc>tTc	p.S217F	PRUNE_uc001ewi.1_Missense_Mutation_p.S35F|PRUNE_uc010pco.1_Intron|PRUNE_uc001ewj.1_Intron|U6_uc021oyh.1_5'Flank|PRUNE_uc001ewk.1_Missense_Mutation_p.S35F	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	Homo sapiens prune homolog (Drosophila) (PRUNE), mRNA.	217						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	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)			ATATTTGATTCCCTACAAAAG	0.393000														104			62		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23234568	23234568	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:23234568C>T	uc009vqj.1	+	11	2404	c.2259C>T	c.(2257-2259)ctC>ctT	p.L753L	EPHB2_uc001bge.3_Silent_p.L754L|EPHB2_uc001bgf.3_Silent_p.L753L|EPHB2_uc010odu.2_Silent_p.L695L	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	753	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCAACATCCTCGTCAACAGCA	0.567000														32			69		0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4118187	4118187	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:4118187C>T	uc003zhx.1	-	3	2004	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	GLIS3_uc003zic.1_Missense_Mutation_p.E431K|GLIS3_uc003zie.1_Missense_Mutation_p.E431K|GLIS3_uc010mhh.1_Missense_Mutation_p.E306K|GLIS3_uc003zid.1_Missense_Mutation_p.E209K|GLIS3_uc010mhi.1_Missense_Mutation_p.E238K|GLIS3_uc003zif.1_Missense_Mutation_p.E209K|GLIS3_uc003zih.1_Missense_Mutation_p.E209K|GLIS3_uc003zig.1_Missense_Mutation_p.E275K|GLIS3_uc003zhw.1_Missense_Mutation_p.E276K|GLIS3_uc003zhy.1_Missense_Mutation_p.E209K|GLIS3_uc003zhz.1_Missense_Mutation_p.E209K|GLIS3_uc003zib.1_Missense_Mutation_p.E275K|GLIS3_uc010mhg.1_Missense_Mutation_p.E209K	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	276					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TCCAGGCGTTCGGTCTTGAAC	0.726000														3			12		0	0	1	0	0
OR8U8	504189	broad.mit.edu	37	11	56143306	56143306	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:56143306G>A	uc001nit.2	+	0	207	c.207G>A	c.(205-207)gtG>gtA	p.V69V		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										TAGCTTTTGTGGATTTCTGTT	0.398000														139			77		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183104852	183104852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:183104852C>T	uc002uos.3	-	3	467	c.383G>A	c.(382-384)gGa>gAa	p.G128E	PDE1A_uc010zfp.1_Missense_Mutation_p.G24E|PDE1A_uc002uoq.1_Missense_Mutation_p.G128E|PDE1A_uc010zfq.1_Missense_Mutation_p.G128E|PDE1A_uc002uor.3_Missense_Mutation_p.G112E|PDE1A_uc002uou.3_Missense_Mutation_p.G94E	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	128					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CACAAAAATTCCAGCTTGAAC	0.388000														55			32		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185958690	185958690	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:185958690C>T	uc001grq.1	+	20	3348	c.3119C>T	c.(3118-3120)tCa>tTa	p.S1040L	HMCN1_uc001grr.1_Missense_Mutation_p.S381L	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1040	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.S1040L(2)		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						TATGTGGTATCACCTGGAGGA	0.502000														69			40		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929878	121929878	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:121929878G>A	uc004bkc.2	-	7	2226	c.1770C>T	c.(1768-1770)atC>atT	p.I590I		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	590					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TTTGGAGACGGATCTTCTCCC	0.527000														98			57		0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158227228	158227228	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:158227228G>A	uc001frt.3	+	4	1434	c.901G>A	c.(901-903)Ggc>Agc	p.G301S	CD1A_uc021pbk.1_Intron	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	301					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane		p.V300M(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CAGTTCCGTGGGCTTCATCAT	0.468000														133			93		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234863801	234863801	+	Silent	SNP	G	A	A	rs151229928		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:234863801G>A	uc002vvh.3	+	10	1309	c.1269G>A	c.(1267-1269)aaG>aaA	p.K423K	TRPM8_uc010fyj.3_Silent_p.K111K	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	423						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AGCAAGACAAGGATAACTGGA	0.498000														8			37		0	0	1	0	0
NKD2	85409	broad.mit.edu	37	5	1033572	1033572	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:1033572C>T	uc003jbt.1	+	4	293	c.288C>T	c.(286-288)cgC>cgT	p.R96R	NKD2_uc010itf.1_Silent_p.R96R	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Homo sapiens naked cuticle homolog 2 (Drosophila) (NKD2), mRNA.	96	Targeting to the basolateral cell membrane.				Wnt receptor signaling pathway|exocytosis	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CAGCAAACCGCGAGGGCCCGC	0.692000														12			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176904	140176904	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140176904G>A	uc003lhd.2	+	0	2461	c.2355G>A	c.(2353-2355)gaG>gaA	p.E785E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.E785E|PCDHAC2_uc011czy.2_Silent_p.E785E	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	823					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCAGAAGAGAAACAGCTCT	0.453000														69			32		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34209070	34209070	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:34209070C>T	uc001bxm.1	-	13	2161	c.1984G>A	c.(1984-1986)Gac>Aac	p.D662N	CSMD2_uc001bxn.1_Missense_Mutation_p.D622N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	622	CUB 4.					integral to membrane|plasma membrane	protein binding	p.H662R(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACGTCAATGTCGTTGAAGGCC	0.602000														24			55		0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79663933	79663934	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:79663933_79663934CC>TT	uc002kbg.3	+	17	1922_1923	c.1787_1788CC>TT	c.(1786-1788)gcc>gTT	p.A596V		NM_004712	NP_004703	O14964	HGS_HUMAN	Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA.	596	Gln-rich.|Interaction with NF2.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TTCAGCCCTGCCGGCTCGGTGG	0.693000														80			52		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7172378	7172378	+	Silent	SNP	G	T	T	rs56135071		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:7172378G>T	uc002mgd.1	-	4	1300	c.1191C>A	c.(1189-1191)atC>atA	p.I397I	INSR_uc002mge.1_Silent_p.I397I|INSR_uc002mgf.3_Silent_p.I397I	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	397					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|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|PTB domain binding|SH2 domain 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|receptor signaling protein tyrosine kinase activity			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)	AGGATCGGCGGATTTTTAGAT	0.478000														82			61		3.74213e-36	3.85049e-36	1	1	0
RBPJL	11317	broad.mit.edu	37	20	43944838	43944838	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:43944838C>T	uc002xns.3	+	9	1104	c.1032C>T	c.(1030-1032)tgC>tgT	p.C344C	RBPJL_uc002xnt.3_Silent_p.C344C	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	344					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CCTCTCCCTGCCCCAAGGAGG	0.617000														66			31		0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31124988	31124988	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:31124988G>A	uc003tca.2	+	8	889	c.600G>A	c.(598-600)gcG>gcA	p.A200A	ADCYAP1R1_uc003tcg.3_Silent_p.A200A|ADCYAP1R1_uc003tce.2_Silent_p.A200A|ADCYAP1R1_uc003tcb.2_Silent_p.A179A|ADCYAP1R1_uc003tcc.2_Silent_p.A200A|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	200					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	p.A200V(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGCTGAGGGCGATCTCCGTCT	0.527000														76			54		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28151401	28151401	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:28151401G>A	uc009xky.3	-	17	2859	c.2761C>T	c.(2761-2763)Cat>Tat	p.H921Y	ARMC4_uc010qds.2_Missense_Mutation_p.H446Y|ARMC4_uc010qdt.2_Missense_Mutation_p.H613Y|ARMC4_uc001itz.3_Missense_Mutation_p.H921Y	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	921							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACAACTCCATGATCTGTGATA	0.348000														60			28		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35832695	35832695	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:35832695A>G	uc010edt.3	+	8	1946	c.1862A>G	c.(1861-1863)aAc>aGc	p.N621S	CD22_uc010edu.3_Missense_Mutation_p.N533S|CD22_uc010edv.3_Missense_Mutation_p.N621S|CD22_uc002nzb.4_Missense_Mutation_p.N444S|CD22_uc010xst.2_Missense_Mutation_p.N449S|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	621	Ig-like C2-type 6.				cell adhesion		protein binding|sugar binding	p.A620V(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AGCGACGCCAACCCTCCCGTC	0.607000														53			22		0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21977350	21977351	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:21977350_21977351CC>TT	uc003xas.3	-	13	3564_3565	c.2899_2900GG>AA	c.(2899-2901)gga>AAa	p.G967K	HR_uc003xat.3_Missense_Mutation_p.G967K	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	967	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTTGAGTTTTCCATGGAGGGCG	0.644000														22			53		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42224885	42224885	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:42224885C>T	uc002orl.3	+	7	1936	c.1815C>T	c.(1813-1815)taC>taT	p.Y605Y	CEACAM5_uc002orj.1_Silent_p.Y604Y	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	605	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		ACTCGTCTTACCTTTCGGGAG	0.552000														134			107		0	0	1	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008762	142008762	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:142008762G>A	uc003vxf.3	+	1	284	c.235G>A	c.(235-237)Gtt>Att	p.V79I	TRBV2_uc011kro.1_Intron|TRBV3-1_uc022amz.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AAATGAAACAGTTCCAAATCG	0.378000														80			64		0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37534725	37534725	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:37534725C>T	uc002xje.3	+	6	999	c.810C>T	c.(808-810)gcC>gcT	p.A270A	PPP1R16B_uc010ggc.3_Intron	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	270					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				ATGCAGCTGCCTTCTGGGGAC	0.597000														49			32		0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17799532	17799532	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:17799532C>G	uc003ncg.4	-	21	2915	c.2755G>C	c.(2755-2757)Gat>Cat	p.D919H	KIF13A_uc003ncf.3_Missense_Mutation_p.D919H|KIF13A_uc003nch.4_Missense_Mutation_p.D919H|KIF13A_uc003nci.4_Missense_Mutation_p.D919H	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	919					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TACTGGGCATCCTTGGACTGT	0.502000														18			18		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93796821	93796821	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:93796821C>T	uc001pep.2	+	2	720	c.563C>T	c.(562-564)tCg>tTg	p.S188L		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	188	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GTGTACCATTCGCACATCGAC	0.542000														69			57		0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132939595	132939595	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:132939595C>T	uc003kyn.1	-	1	298	c.80G>A	c.(79-81)gGa>gAa	p.G27E		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	27						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTGCTGGTTCCTGGGTCCAT	0.537000														66			69		0	0	1	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34035785	34035785	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:34035785G>A	uc003jio.3	-	1	523	c.382C>T	c.(382-384)Ccc>Tcc	p.P128S	C1QTNF3_uc003jin.3_Missense_Mutation_p.P55S	NM_181435	NP_852100	Q9BXJ4	C1QT3_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 3 (C1QTNF3), transcript variant 2, mRNA.	55	C1q.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					GGCCCAGGGGGGCCTTGGTAG	0.522000														69			13		0	0	1	0	0
C2orf15	150590	broad.mit.edu	37	2	99763946	99763946	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:99763946G>A	uc002szk.3	+	2	415	c.16G>A	c.(16-18)Ggg>Agg	p.G6R	TSGA10_uc002szi.4_Intron|MRPL30_uc002szl.1_Non-coding_Transcript	NM_144706	NP_653307	Q8WU43	CB015_HUMAN	Homo sapiens chromosome 2 open reading frame 15 (C2orf15), mRNA.	6										autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(1)	6						CTCAACTCTGGGGAAGTTAAG	0.398000														61			30		0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21245098	21245098	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:21245098C>T	uc010bwp.1	+	0	83	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L		NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	14								p.Y13*(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TGATAGTTACCTGGAACTTCT	0.498000														44			75		0	0	1	0	0
RGL2	5863	broad.mit.edu	37	6	33263166	33263166	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:33263166A>T	uc003odv.3	-	7	1614	c.1054T>A	c.(1054-1056)Tat>Aat	p.Y352N	RGL2_uc003odu.3_5'UTR|RGL2_uc010jur.3_5'UTR|RGL2_uc003odw.3_Missense_Mutation_p.Y270N|RGL2_uc011drb.2_Missense_Mutation_p.Y270N	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	352	Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						ACCACGGCATAAACTGAAGAG	0.607000														8			7		0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145772573	145772573	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:145772573C>T	uc003zds.1	-	5	2452	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	ARHGAP39_uc011llk.1_Missense_Mutation_p.E633K|ARHGAP39_uc003zdt.1_Missense_Mutation_p.E633K	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	633					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						ACGCTCTTCTCCAGCAGGATC	0.662000														25			16		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84607227	84607227	+	Silent	SNP	G	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:84607227G>C	uc004amn.3	+	3	1889	c.1842G>C	c.(1840-1842)cgG>cgC	p.R614R		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	614						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						ACGAGGCACGGTCTCTTTTGC	0.483000														12			41		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10352264	10352264	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:10352264C>T	uc002gmn.3	-	30	4393	c.4282G>A	c.(4282-4284)Gaa>Aaa	p.E1428K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1428					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCCTCTACTTCATTCTGTAGC	0.453000														40			29		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	124999873	124999873	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:124999873G>A	uc010flu.3	+	2	648	c.284G>A	c.(283-285)gGa>gAa	p.G95E	CNTNAP5_uc002tno.3_Missense_Mutation_p.G95E	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	95	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCCACGCAGGGAAGATACGGA	0.527000														16			10		0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922440	17922440	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:17922440G>A	uc002nhl.1	+	2	775	c.628G>A	c.(628-630)Gat>Aat	p.D210N	B3GNT3_uc010ebd.1_Missense_Mutation_p.D210N|B3GNT3_uc010ebe.1_Missense_Mutation_p.D210N	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	210					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GCTCAACGGGGATGATGACGT	0.587000														38			25		0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62796645	62796645	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:62796645G>A	uc002jew.4	-	5	1306	c.395C>T	c.(394-396)cCc>cTc	p.P132L	PLEKHM1P_uc002jev.3_Non-coding_Transcript|PLEKHM1P_uc010wqe.1_Missense_Mutation_p.P132L					Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene (PLEKHM1P), non-coding RNA.																		CAGGTCTGAGGGAGAGAGGCA	0.657000														67			44		0	0	1	0	0
RPF1	80135	broad.mit.edu	37	1	84945089	84945089	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:84945089C>T	uc001djv.4	+	0	170	c.125C>T	c.(124-126)cCc>cTc	p.P42L		NM_025065	NP_079341	Q9H9Y2	RPF1_HUMAN	Homo sapiens ribosome production factor 1 homolog (S. cerevisiae) (RPF1), mRNA.	42					rRNA processing|translation	nucleolus	ATP binding|aminoacyl-tRNA ligase activity|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						GGGGTCCAACCCCCGAAAGCG	0.572000														56			27		0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4389419	4389419	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:4389419G>A	uc010qye.2	-	0	198	c.107C>T	c.(106-108)tCc>tTc	p.S36F		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S36S(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTGACATAGGAAATGAAGAA	0.517000														31			24		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857636	9857636	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:9857636C>T	uc010uym.2	-	13	4075	c.3765G>A	c.(3763-3765)caG>caA	p.Q1255Q	GRIN2A_uc002czo.4_Silent_p.Q1255Q|GRIN2A_uc010uyn.2_Silent_p.Q1098Q|GRIN2A_uc002czr.4_Silent_p.Q1255Q	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1255					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TACCTGTCTCCTGAAGCATCT	0.542000														15			28		0	0	1	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76681226	76681226	+	RNA	SNP	G	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:76681226G>C	uc003ufy.2	+	4		c.1203G>C								Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) pseudogene (LOC100132832), non-coding RNA.																		TGTCACACTTGAAGGAGGCAG	0.453000														7			3		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82434923	82434923	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:82434923C>T	uc001dit.4	+	13	2715	c.2534C>T	c.(2533-2535)tCc>tTc	p.S845F	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.S845F|LPHN2_uc001div.3_Missense_Mutation_p.S845F|LPHN2_uc009wcd.3_Missense_Mutation_p.S845F|LPHN2_uc001diw.3_Missense_Mutation_p.S429F|LPHN2_uc009wce.1_5'Flank	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	858					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.I844V(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATTGTCATTTCCCTTGTTTGC	0.398000														102			60		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63064904	63064904	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:63064904C>T	uc009yor.3	+	2	844	c.636C>T	c.(634-636)atC>atT	p.I212I	SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	212						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTCCATGATCATTATATCAA	0.398000														75			43		0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144893367	144893367	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:144893367G>A	uc003yzp.1	-	9	1062	c.1055C>T	c.(1054-1056)cCa>cTa	p.P352L	SCRIB_uc003yzo.1_Missense_Mutation_p.P352L	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	352	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGCCAGCTCTGGTGGCAGGAC	0.701000														21			9		0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158142597	158142597	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:158142597G>A	uc002tzg.3	+	2	1947	c.1692G>A	c.(1690-1692)gaG>gaA	p.E564E	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	564	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E564*(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GCCTCAAAGAGAGACATGGCT	0.343000														26			17		0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55693424	55693424	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:55693424C>T	uc002qjq.3	-	18	3231	c.3158G>A	c.(3157-3159)aGg>aAg	p.R1053K	PTPRH_uc010esv.3_Missense_Mutation_p.R875K|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	1053	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TCTCATCTTCCTTACAAAGCT	0.632000														115			86		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108388966	108388966	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:108388966G>A	uc001pkk.3	-	4	738	c.627C>T	c.(625-627)ttC>ttT	p.F209F	EXPH5_uc010rvz.2_Silent_p.F53F|EXPH5_uc010rvy.2_Silent_p.F21F	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	209					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ACTTACCTTGGAAAAACTCAT	0.403000														47			31		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141709478	141709478	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:141709478G>A	uc002tvj.1	-	18	3891	c.2919C>T	c.(2917-2919)ttC>ttT	p.F973F	LRP1B_uc010fnl.1_Silent_p.F155F	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	973	LDL-receptor class A 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTGCATACGAATTGGGTTA	0.418000										TSP Lung(27;0.18)				37			23		0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45206902	45206902	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:45206902C>T	uc010xxd.2	+	2	527	c.321C>T	c.(319-321)atC>atT	p.I107I		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	107										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GCACCTACATCCTGCAGACCT	0.677000														7			8		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147023	55147023	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:55147023G>A	uc003pcl.3	+	7	1421	c.1106_splice	c.e7-1	p.G369_splice	HCRTR2_uc010jzv.3_Splice_Site	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	369					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGTTTGCCAGGAAAATTTCGA	0.438000														16			5		0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128471489	128471489	+	Silent	SNP	A	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:128471489A>C	uc002tpg.2	-	17	3175	c.2976T>G	c.(2974-2976)ggT>ggG	p.G992G		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	992					postreplication repair|spermatogenesis	collagen|nucleus	protein binding	p.R991L(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AGTCCTGGCCACCCCGGAAAG	0.662000														150			14		0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113174322	113174322	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:113174322G>A	uc001vse.1	-	14	1946	c.1759C>T	c.(1759-1761)Cgt>Tgt	p.R587C	TUBGCP3_uc010tjq.1_Missense_Mutation_p.R577C|TUBGCP3_uc001vsf.3_Missense_Mutation_p.R587C	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	587					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	p.R587S(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GTAGCTGGACGGACAAGTTCT	0.348000														91			120		0	0	1	0	0
CCDC61	729440	broad.mit.edu	37	19	46498701	46498701	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:46498701C>T	uc002pdw.3	+	1	99	c.99C>T	c.(97-99)tcC>tcT	p.S33S	CCDC61_uc021uwd.1_5'UTR	NM_001080402	NP_001073871			Homo sapiens coiled-coil domain containing 61 (CCDC61), mRNA.											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		ACGCCGGATCCTGGGGCGGGG	0.622000														14			7		0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203044805	203044805	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:203044805C>T	uc009xaj.3	+	33	3869	c.3869C>T	c.(3868-3870)aCc>aTc	p.T1290I	PPFIA4_uc010pqf.2_Missense_Mutation_p.T872I|PPFIA4_uc001gyz.3_Missense_Mutation_p.T659I|PPFIA4_uc001gza.3_Missense_Mutation_p.T650I|PPFIA4_uc001gzb.1_Missense_Mutation_p.T345I|PPFIA4_uc001gzc.1_Missense_Mutation_p.T201I			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	659					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TCCGCGGAGACCCTCCCGGCG	0.706000														7			8		0	0	1	0	0
ETS1	2113	broad.mit.edu	37	11	128359223	128359223	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:128359223C>T	uc010sbs.1	-	2	681	c.365G>A	c.(364-366)gGg>gAg	p.G122E	ETS1_uc001qej.2_Missense_Mutation_p.G166E|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.G122E	NM_005238	NP_005229	P14921	ETS1_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 2, mRNA.	122	PNT.				PML body organization|cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TAAGATGTCCCCAACAAAGTC	0.502000														127			100		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10362664	10362664	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:10362664G>A	uc002gmn.3	-	14	1602	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	497	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTCCAGCACGAACATGTGGT	0.483000														94			68		0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	305972	305972	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:305972G>A	uc001qhz.3	-	11	1816	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	SLC6A12_uc001qhy.3_Intron|SLC6A12_uc001qia.3_Silent_p.F384F|SLC6A12_uc001qib.3_Silent_p.F384F|SLC6A12_uc009zdh.2_Silent_p.F384F	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	384					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GCATGATAAAGAACAGGCAGG	0.582000														76			44		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175832	140175832	+	Missense_Mutation	SNP	G	A	A	rs148429256		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140175832G>A	uc003lhd.2	+	0	1389	c.1283G>A	c.(1282-1284)cGg>cAg	p.R428Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.R428Q|PCDHAC2_uc011czy.2_Missense_Mutation_p.R428Q	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	442	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGACCGCACGGGACGGGGGC	0.627000														122			128		0	0	1	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114098849	114098849	+	Silent	SNP	G	A	A	rs138609269		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:114098849G>A	uc001vtq.1	-	1	357	c.270C>T	c.(268-270)atC>atT	p.I90I	ADPRHL1_uc001vtp.1_Silent_p.I8I	NM_138430	NP_954631	Q8NDY3	ARHL1_HUMAN	Homo sapiens ADP-ribosylhydrolase like 1 (ADPRHL1), transcript variant 1, mRNA.	90					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			GCTTCTCAACGATTTCCACAT	0.547000														202			84		0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695273	247695273	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:247695273C>T	uc021pmb.1	-	0	541	c.541G>A	c.(541-543)Gag>Aag	p.E181K	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.E181K	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGGGGCATCTCGCAAAAGAAG	0.567000														17			22		0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231906813	231906813	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:231906813G>A	uc010pxh.2	+	6	1780	c.1727G>A	c.(1726-1728)aGg>aAg	p.R576K	DISC1_uc010pwj.1_Missense_Mutation_p.R533K|DISC1_uc010pwk.1_Missense_Mutation_p.R533K|DISC1_uc010pwg.1_Missense_Mutation_p.R533K|DISC1_uc010pwh.1_Missense_Mutation_p.R499K|DISC1_uc010pwi.1_Missense_Mutation_p.R499K|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwq.2_Missense_Mutation_p.R544K|DISC1_uc010pwr.1_Missense_Mutation_p.R544K|DISC1_uc010pws.1_Missense_Mutation_p.R544K|DISC1_uc010pwt.1_Missense_Mutation_p.R544K|DISC1_uc010pwu.1_Missense_Mutation_p.R194K|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Non-coding_Transcript|DISC1_uc010pww.2_Missense_Mutation_p.R544K|DISC1_uc001huy.3_Missense_Mutation_p.R544K|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Missense_Mutation_p.R544K|DISC1_uc010pxc.1_Missense_Mutation_p.R544K|DISC1_uc010pxe.2_Missense_Mutation_p.R544K|DISC1_uc010pxf.2_Missense_Mutation_p.R544K|DISC1_uc010pxg.2_Missense_Mutation_p.R544K|DISC1_uc010pxd.2_Missense_Mutation_p.R189K|DISC1_uc009xfr.3_Missense_Mutation_p.R499K|DISC1_uc010pxn.1_Missense_Mutation_p.R189K|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_Missense_Mutation_p.R189K|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Intron|DISC1_uc001huz.3_Missense_Mutation_p.R544K|DISC1_uc001hva.3_Missense_Mutation_p.R544K	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN	Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.	544	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GAAACCATAAGGAGGTACTGC	0.517000														10			5		0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102183090	102183090	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:102183090C>T	uc003dvt.1	+	6	904	c.804C>T	c.(802-804)ttC>ttT	p.F268F	ZPLD1_uc003dvs.1_Silent_p.F252F|ZPLD1_uc011bhg.1_Silent_p.F252F	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	252	ZP.					integral to membrane		p.F268Y(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATGATCTTTTCCTTAGGTAAG	0.313000														39			36		0	0	1	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43851128	43851128	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:43851128A>C	uc001zrw.3	-	28	3454	c.3250T>G	c.(3250-3252)Ttt>Gtt	p.F1084V	PPIP5K1_uc021sjw.1_Missense_Mutation_p.F1059V|PPIP5K1_uc001zrx.2_Missense_Mutation_p.F1017V|PPIP5K1_uc001zry.4_Missense_Mutation_p.F1059V|PPIP5K1_uc021sjx.1_Missense_Mutation_p.F147V	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript variant 5, mRNA.	1084					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						CACCCTTCAAACCCTGTTTGA	0.493000														19			42		0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	57005372	57005373	+	Missense_Mutation	DNP	AG	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:57005372_57005373AG>TT	uc001slq.1	-	6	1854_1855	c.1660_1661CT>AA	c.(1660-1662)ctt>AAt	p.L554N	BAZ2A_uc001slp.1_Missense_Mutation_p.L552N|BAZ2A_uc009zow.1_Missense_Mutation_p.L522N	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	554	MBD.				DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TTGGAGGGGAAGACGAACTTCT	0.416000														26			17		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33137173	33137173	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:33137173G>A	uc003ocx.1	-	50	4013	c.3785C>T	c.(3784-3786)cCc>cTc	p.P1262L	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.P1176L|COL11A2_uc003ocz.1_Missense_Mutation_p.P1155L	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1262	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GTTCCCTTTGGGGCCATCATC	0.627000														43			34		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106829597	106829597	+	RNA	SNP	C	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:106829597C>G	uc021ser.1	-	518		c.15306G>C			abParts_uc001ysx.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CTGTGCCTCTCGCACAGTAAT	0.587000														185			98		0	0	1	0	0
PMPCA	23203	broad.mit.edu	37	9	139317677	139317677	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:139317677G>A	uc004chl.3	+	12	1544	c.1539G>A	c.(1537-1539)aaG>aaA	p.K513K	PMPCA_uc011mdz.2_Silent_p.K382K|PMPCA_uc010nbl.3_Silent_p.K413K|PMPCA_uc004chn.1_3'UTR	NM_015160	NP_055975	Q10713	MPPA_HUMAN	Homo sapiens peptidase (mitochondrial processing) alpha (PMPCA), nuclear gene encoding mitochondrial protein, mRNA.	513					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGTCGAGTAAGGACGGGCGCC	0.662000														31			17		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144996418	144996418	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:144996418A>C	uc003zaf.1	-	31	8152	c.7982T>G	c.(7981-7983)gTg>gGg	p.V2661G	PLEC_uc003zab.1_Missense_Mutation_p.V2524G|PLEC_uc003zac.1_Missense_Mutation_p.V2528G|PLEC_uc003zad.2_Missense_Mutation_p.V2524G|PLEC_uc003zae.1_Missense_Mutation_p.V2492G|PLEC_uc003zag.1_Missense_Mutation_p.V2502G|PLEC_uc003zah.2_Missense_Mutation_p.V2510G|PLEC_uc003zaj.2_Missense_Mutation_p.V2551G	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2661	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						TGCCTTGGCCACCTCGTCCTG	0.647000														7			6		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20959930	20959930	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:20959930C>T	uc010vbe.2	-	56	11218	c.11218G>A	c.(11218-11220)Gat>Aat	p.D3740N	DNAH3_uc010vbd.2_Missense_Mutation_p.D1175N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3740					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)		TCTTTGTCATCAGTCACTCTG	0.498000														15			14		0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131140257	131140257	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:131140257T>A	uc003yta.2	-	15	1525	c.1297A>T	c.(1297-1299)Agc>Tgc	p.S433C	ASAP1_uc003ysz.2_Missense_Mutation_p.S244C|ASAP1_uc011liw.2_Missense_Mutation_p.S426C	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	433					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCTTCCAGGCTGTTCTCTCCC	0.478000														43			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587037	179587037	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:179587037C>T	uc021vsy.1	-	73	18970	c.18745G>A	c.(18745-18747)Gct>Act	p.A6249T	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A2910T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7176	Ig-like 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTTGGAAGCTGAGCAAGAG	0.403000														43			22		0	0	1	0	0
KIAA1279	26128	broad.mit.edu	37	10	70748821	70748821	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:70748821C>T	uc001joy.3	+	0	345	c.233C>T	c.(232-234)gCt>gTt	p.A78V		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	Homo sapiens KIAA1279 (KIAA1279), nuclear gene encoding mitochondrial protein, mRNA.	78					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						GGGCTGCCGGCTGAGGTGGTG	0.721000														40			48		0	0	1	0	0
CIB2	10518	broad.mit.edu	37	15	78403582	78403582	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:78403582G>A	uc010ums.1	-	2	444	c.123C>T	c.(121-123)ctC>ctT	p.L41L	CIB2_uc002bdb.1_Silent_p.L41L|CIB2_uc002bdc.1_5'UTR	NM_006383	NP_006374	O75838	CIB2_HUMAN	Homo sapiens calcium and integrin binding family member 2 (CIB2), mRNA.	41							calcium ion binding	p.L41L(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CCATTGGGACGAGGTTGGGGG	0.607000														17			79		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41577323	41577323	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:41577323G>A	uc003xok.3	-	9	1047	c.963C>T	c.(961-963)gtC>gtT	p.V321V	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Silent_p.V321V|ANK1_uc003xoj.3_Silent_p.V321V|ANK1_uc003xol.3_Silent_p.V321V|ANK1_uc003xom.3_Silent_p.V354V	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	321	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACAGGAGCCGGACACAGTCGA	0.577000														78			72		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17483187	17483187	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:17483187G>A	uc001mnc.3	-	4	891	c.765C>T	c.(763-765)atC>atT	p.I255I	ABCC8_uc010rcy.1_Silent_p.I255I	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	255					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCCTCATGGCGATGGGCAGCT	0.587000														68			54		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952868	119952868	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:119952868C>T	uc010inb.3	+	3	3134	c.2938C>T	c.(2938-2940)Caa>Taa	p.Q980*	SYNPO2_uc010ina.3_Nonsense_Mutation_p.Q980*|SYNPO2_uc003icm.4_Nonsense_Mutation_p.Q980*|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Nonsense_Mutation_p.Q908*|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	980						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTTTACTTTCCAACCTCCAGA	0.502000														34			15		0	0	1	0	0
COBRA1	25920	broad.mit.edu	37	9	140151503	140151503	+	Silent	SNP	C	T	T	rs144287982		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:140151503C>T	uc004cmm.4	+	3	797	c.594C>T	c.(592-594)ggC>ggT	p.G198G		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	Homo sapiens cofactor of BRCA1 (COBRA1), mRNA.	198					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding	p.G198S(1)		endometrium(2)|large_intestine(5)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	16	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)		GGCGCCAGGGCGAGGTGAGGG	0.617000														27			19		0	0	1	0	0
METTL17	64745	broad.mit.edu	37	14	21464746	21464746	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:21464746G>T	uc001vyo.3	+	12	1338	c.1141G>T	c.(1141-1143)Gag>Tag	p.E381*	METTL17_uc001vym.3_Nonsense_Mutation_p.E381*|METTL17_uc001vyn.3_Nonsense_Mutation_p.E381*|SLC39A2_uc001vys.3_5'Flank|SLC39A2_uc001vyr.3_5'Flank	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN	Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA.	381					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GTCTCCAGAGGAGGCTCATCG	0.488000														27			20		8.00594e-06	8.08175e-06	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31326522	31326522	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:31326522C>T	uc010dmg.1	+	11	6765	c.6710C>T	c.(6709-6711)cCt>cTt	p.P2237L	ASXL3_uc002kxq.2_Missense_Mutation_p.P1944L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	2237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGCATAGGTCCTTCAAAACTT	0.468000														24			54		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34818158	34818158	+	Missense_Mutation	SNP	G	A	A	rs35436513	by1000genomes	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:34818158G>A	uc003teh.1	+	2	493	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.R122Q|NPSR1_uc010kwt.1_Intron|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Missense_Mutation_p.R122Q|NPSR1_uc010kww.1_Missense_Mutation_p.R111Q|NPSR1_uc011kar.1_Intron|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	122			R -> Q (in dbSNP:rs35436513).			cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.R122Q(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTGGTTTGCCGAGTGGTCCGC	0.403000														33			30		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991826	144991826	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:144991826G>A	uc003zaf.1	-	31	12744	c.12574C>T	c.(12574-12576)Cct>Tct	p.P4192S	PLEC_uc003zab.1_Missense_Mutation_p.P4055S|PLEC_uc003zac.1_Missense_Mutation_p.P4059S|PLEC_uc003zad.2_Missense_Mutation_p.P4055S|PLEC_uc003zae.1_Missense_Mutation_p.P4023S|PLEC_uc003zag.1_Missense_Mutation_p.P4033S|PLEC_uc003zah.2_Missense_Mutation_p.P4041S|PLEC_uc003zaj.2_Missense_Mutation_p.P4082S	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4192	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCTCCTCAGGGTCGATGATG	0.637000														47			38		0	0	1	0	0
CNOT2	4848	broad.mit.edu	37	12	70724135	70724135	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:70724135C>T	uc001svv.3	+	5	1037	c.455C>T	c.(454-456)cCt>cTt	p.P152L	CNOT2_uc009zro.3_Missense_Mutation_p.P152L|CNOT2_uc009zrp.3_Missense_Mutation_p.P132L|CNOT2_uc009zrq.3_Missense_Mutation_p.P152L	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.	152					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	RNA polymerase II transcription cofactor activity|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ATTGGAATTCCTAGCAGGACA	0.453000														74			58		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306714	41306714	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:41306714G>A	uc002xkg.3	-	6	1129	c.945C>T	c.(943-945)atC>atT	p.I315I	PTPRT_uc010ggj.3_Silent_p.I315I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	315	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCCATCCCCGATGATGGAGT	0.572000														41			29		0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33696367	33696367	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:33696367G>A	uc010edh.3	+	4	784	c.691G>A	c.(691-693)Gag>Aag	p.E231K	LRP3_uc010xrp.1_Missense_Mutation_p.E105K|LRP3_uc002nuk.4_Missense_Mutation_p.E105K	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	231	LDL-receptor class A 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CCTGCCTGTGGAGCGGCGCTG	0.761000														17			11		0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101348391	101348391	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:101348391G>C	uc010txj.1	-	0	2794	c.2735C>G	c.(2734-2736)cCt>cGt	p.P912R	MIR127_uc001yig.3_5'Flank|MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	912										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						AACCTCGATAGGGGAGATGTT	0.592000														19			11		0	0	1	0	0
SPANXC	64663	broad.mit.edu	37	X	140336646	140336646	+	Splice_Site	SNP	G	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:140336646G>T	uc004fbk.3	-	1	1	c.-55_splice	c.e1-1		SPANXC_uc004fbl.3_Intron	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	Homo sapiens SPANX family, member C (SPANXC), mRNA.							cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TTGAATCTTCGCAGTGGCCCG	0.527000														11			8		0.27861	0.27966	1	1	0
SLC16A11	162515	broad.mit.edu	37	17	6946862	6946862	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:6946862G>A	uc002gei.1	-	0	381	c.43C>T	c.(43-45)Cac>Tac	p.H15Y		NM_153357	NP_699188	Q8NCK7	MOT11_HUMAN	Homo sapiens solute carrier family 16, member 11 (monocarboxylic acid transporter 11) (SLC16A11), mRNA.	15						integral to membrane|plasma membrane	symporter activity			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						AAACATCTGTGAGAGAAGCCT	0.716000														35			24		0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334145	37334145	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:37334145C>T	uc003aqa.4	+	13	2512	c.2295C>T	c.(2293-2295)ggC>ggT	p.G765G	CSF2RB_uc003aqc.4_Silent_p.G771G	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	765					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGTTTGAGGGCTATGTGGAGC	0.642000														35			30		0	0	1	0	0
HEATR7A	727957	broad.mit.edu	37	8	145223308	145223308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:145223308C>T	uc003zbk.4	+	3	370	c.133C>T	c.(133-135)Cgt>Tgt	p.R45C	HEATR7A_uc003zbg.2_Missense_Mutation_p.R45C|HEATR7A_uc003zbi.4_Missense_Mutation_p.R45C|HEATR7A_uc003zbh.4_Missense_Mutation_p.R45C|HEATR7A_uc011lla.1_Missense_Mutation_p.R45C|HEATR7A_uc010mft.3_Missense_Mutation_p.R45C	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN	Homo sapiens HEAT repeat containing 7A (HEATR7A), transcript variant 1, mRNA.	45							binding			endometrium(2)|kidney(2)|lung(3)|skin(1)	8						GGAGACGCTCCGTGCCTGCGA	0.632000														36			24		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941741	22941741	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:22941741G>A	uc021urt.1	-	3	1125	c.970C>T	c.(970-972)Cat>Tat	p.H324Y		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCTGAGAAATGGTTAAAAGCT	0.393000														34			30		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40399994	40399994	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:40399994C>T	uc003oph.1	-	1	1324	c.859G>A	c.(859-861)Gag>Aag	p.E287K		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	287	LRRCT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGAGGCGGCTCGCACACAAAC	0.627000														43			40		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71227756	71227756	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:71227756G>A	uc001xmm.3	-	2	964	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	MAP3K9_uc010ttk.2_Missense_Mutation_p.R59W|MAP3K9_uc001xmk.3_Missense_Mutation_p.R16W|MAP3K9_uc001xml.3_Missense_Mutation_p.R322W	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	322	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ATGGAGGCCCGGATGACTTCG	0.547000														73			51		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560610	44560610	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:44560610G>A	uc002lcr.1	-	0	1379	c.1026C>T	c.(1024-1026)aaC>aaT	p.N342N	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	342					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCTCTCGGTCGTTGGAAAGCT	0.577000														25			45		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747527	143747527	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:143747527C>T	uc011ktw.2	+	0	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCACAGAATTCATTCTCCTGG	0.502000														85			49		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17699232	17699232	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:17699232G>A	uc002grm.3	+	2	3439	c.2970G>A	c.(2968-2970)gaG>gaA	p.E990E	RAI1_uc002grn.1_Silent_p.E990E	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	990						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CAAAGAAAGAGCCTGTGCCAC	0.672000														7			22		0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37785448	37785448	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:37785448G>A	uc003chd.3	+	21	2409	c.2356G>A	c.(2356-2358)Gag>Aag	p.E786K		NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	786					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TGTATATGGCGAGTCCGTGGA	0.512000														41			33		0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127255311	127255311	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:127255311C>T	uc004boo.1	-	4	1175	c.988G>A	c.(988-990)Gag>Aag	p.E330K	NR5A1_uc022bnh.1_Intron	NM_004959	NP_004950	Q13285	STF1_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA.	330	Important for dimerization.|Ligand-binding.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						CTGGTCACCTCCTGCCCGGTG	0.701000														7			9		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112655	148112655	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:148112655G>A	uc003weu.2	+	23	4459	c.3943G>A	c.(3943-3945)Gac>Aac	p.D1315N	CNTNAP2_uc003wev.2_Missense_Mutation_p.D92N	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1315					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CATGAACAACGACCCCAACTT	0.547000										HNSCC(39;0.1)				56			45		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9251204	9251204	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:9251204G>A	uc001qvk.1	-	15	1964	c.1851_splice	c.e15+1	p.S617_splice	A2M_uc009zgk.1_Splice_Site_p.S467_splice	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	617					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GGAACTCACCGAGGACGCCGA	0.552000														10			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140784475	140784475	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140784475C>T	uc003lkh.2	+	0	1956	c.1956C>T	c.(1954-1956)ccC>ccT	p.P652P	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.P652P	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	654	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGCCAGCCCCCTCTCTCGG	0.607000														80			33		0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36691693	36691693	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:36691693C>T	uc003apg.3	-	25	3574	c.3343G>A	c.(3343-3345)Gaa>Aaa	p.E1115K		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1115					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	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|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						TCCTGGAGTTCAGAGATCTGA	0.512000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					23			20		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61687571	61687571	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:61687571G>A	uc002eog.2	-	11	3296	c.2341C>T	c.(2341-2343)Ccc>Tcc	p.P781S		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	781					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTAAAGCGGGGACCCCAGTCA	0.488000														14			47		0	0	1	0	0
KIAA0895L	653319	broad.mit.edu	37	16	67211966	67211966	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:67211966T>A	uc002ert.3	-	5	2033	c.1198A>T	c.(1198-1200)Att>Ttt	p.I400F	KIAA0895L_uc002err.3_Intron|KIAA0895L_uc002ers.3_Missense_Mutation_p.I245F|KIAA0895L_uc002eru.3_Silent_p.A396A	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN	Homo sapiens KIAA0895-like (KIAA0895L), mRNA.	400										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						TGTCGCAGAATGCGCACGATG	0.662000														9			19		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196274467	196274467	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:196274467G>A	uc001gtd.1	-	21	2552	c.2492C>T	c.(2491-2493)tCc>tTc	p.S831F	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.S757F|KCNT2_uc001gtf.1_Missense_Mutation_p.S807F|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.S807F|KCNT2_uc001gth.1_Missense_Mutation_p.S328F	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	831						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACTGAGACTGGAAAACAACCT	0.363000														41			18		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140230577	140230577	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140230577G>A	uc003lht.1	+	0	3221	c.2497G>A	c.(2497-2499)Gaa>Aaa	p.E833K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron	NM_014005	NP_054724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 2, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTTTTCTAGAAATCCAGCA	0.289000														202			78		0	0	1	0	0
SNX24	28966	broad.mit.edu	37	5	122272495	122272495	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:122272495C>T	uc011cwo.2	+	1	296	c.127C>T	c.(127-129)Cat>Tat	p.H43Y	SNX24_uc003ktf.2_Missense_Mutation_p.H43Y|SNX24_uc010jcy.3_Missense_Mutation_p.H43Y	NM_014035	NP_054754	Q9Y343	SNX24_HUMAN	Homo sapiens sorting nexin 24 (SNX24), mRNA.	43	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		CAGCGAATTTCATGCTTTGCA	0.303000														46			29		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17432173	17432173	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:17432173G>A	uc001mnc.3	-	21	2710	c.2584C>T	c.(2584-2586)Cat>Tat	p.H862Y		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	862	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TCACTCAGATGGATATCCAGA	0.547000														80			49		0	0	1	0	0
SCPEP1	59342	broad.mit.edu	37	17	55075817	55075817	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:55075817A>T	uc002iuv.4	+	9	1005	c.952A>T	c.(952-954)Aga>Tga	p.R318*	SCPEP1_uc010dcl.3_Non-coding_Transcript|SCPEP1_uc010wnk.2_Nonsense_Mutation_p.R268*	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	Homo sapiens serine carboxypeptidase 1 (SCPEP1), mRNA.	318					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					TGGCCCCATCAGAAAGAAGCT	0.443000														58			38		0	0	1	0	0
OR14C36	127066	broad.mit.edu	37	1	248512475	248512475	+	Silent	SNP	C	T	T	rs150366522		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:248512475C>T	uc010pzl.2	+	0	399	c.399C>T	c.(397-399)atC>atT	p.I133I		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ACCCTGTGATCGTGAACTCTC	0.507000														28			33		0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169060656	169060656	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:169060656G>A	uc003irm.3	+	2	284	c.120G>A	c.(118-120)ctG>ctA	p.L40L		NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	40							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AAGACATGCTGATCAACATTC	0.403000														38			14		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450269	105450269	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:105450269C>T	uc022cca.1	+	0	844	c.844C>T	c.(844-846)Cct>Tct	p.P282S	MUM1L1_uc004emg.2_Missense_Mutation_p.P282S|MUM1L1_uc004emf.2_Missense_Mutation_p.P282S	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	282										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATTGAGGATCCTGGAGAGGG	0.502000														7			11		0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99441484	99441484	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:99441484C>T	uc003yin.3	+	1	1627	c.1277C>T	c.(1276-1278)gCc>gTc	p.A426V	KCNS2_uc022azb.1_Missense_Mutation_p.A426V	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	426						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CTTGAGAGTGCCATGCGCAGC	0.498000														131			96		0	0	1	0	0
TCTN1	79600	broad.mit.edu	37	12	111080194	111080194	+	Splice_Site	SNP	G	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:111080194G>C	uc001trn.4	+	11	1487	c.1331_splice	c.e11+1	p.R444_splice	TCTN1_uc009zvs.3_Splice_Site_p.R444_splice|TCTN1_uc001trm.3_Intron|TCTN1_uc001trp.4_Splice_Site_p.R430_splice|TCTN1_uc001trj.2_Splice_Site_p.R388_splice|TCTN1_uc001trk.4_Intron|HVCN1_uc001trq.1_Intron	NM_001082538	NP_001076007	Q2MV58	TECT1_HUMAN	Homo sapiens tectonic family member 1 (TCTN1), transcript variant 1, mRNA.	444					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TGTAAACTAAGGTAAAAGAGT	0.413000														21			24		0	0	1	0	0
immunoglobulin_heavy_chain	0	broad.mit.edu	37	14	107034877	107034877	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:107034877C>T	uc001ysz.3	-	1	232	c.203G>A	c.(202-204)gGg>gAg	p.G68E	abParts_uc021ser.1_Non-coding_Transcript					Human CLL-12 transcript of unrearranged immunoglobulin V(H)5 gene.																		ATAGATGATCCCCATCCACTC	0.567000														34			23		0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29745331	29745331	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:29745331G>A	uc003afj.3	-	10	1500	c.1313C>T	c.(1312-1314)tCc>tTc	p.S438F	AP1B1_uc003afl.3_Missense_Mutation_p.S438F|AP1B1_uc003afi.3_Missense_Mutation_p.S438F|AP1B1_uc011ako.2_5'UTR	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	438					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTCATCCAGGGAGTCCAGATT	0.587000														64			47		0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31859912	31859912	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:31859912G>A	uc003akz.2	-	4	538	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F	EIF4ENIF1_uc003ala.2_Missense_Mutation_p.L114F|EIF4ENIF1_uc003alb.2_Intron	NM_001164501	NP_062817	Q9NRA8	4ET_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E nuclear import factor 1 (EIF4ENIF1), transcript variant 2, mRNA.	114				L -> F (in Ref. 1; AAF81693).		nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGAGGGCTGAGAACAACATCT	0.498000														61			41		0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110465850	110465850	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:110465850G>T	uc001dyu.2	+	5	1020	c.607G>T	c.(607-609)Gcc>Tcc	p.A203S	CSF1_uc001dyt.2_Missense_Mutation_p.A203S|CSF1_uc021ori.1_Intron|CSF1_uc001dyw.4_Missense_Mutation_p.A203S|CSF1_uc021orj.1_Intron	NM_172212	NP_757351	P09603	CSF1_HUMAN	Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA.	203					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGTGACCCGGCCTCTGTCTC	0.602000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		73			58		2.67592e-24	2.74018e-24	1	1	0
P2RY8	286530	broad.mit.edu	37	X	1584508	1584508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:1584508C>T	uc022brv.1	-	0	944	c.944G>A	c.(943-945)aGa>aAa	p.R315K	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.R315K	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	315						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		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)				CAGGGTGTCTCTGGGCACCCG	0.647000			T	CRLF2	"""B-ALL, Downs associated ALL"""									35			65		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43376022	43376022	+	Silent	SNP	G	A	A	rs60442765		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:43376022G>A	uc002ovd.1	-	2	744	c.606C>T	c.(604-606)ctC>ctT	p.L202L	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.L202L|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Silent_p.L202L|PSG3_uc002ovb.3_Silent_p.L202L	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	202	Ig-like C2-type 1.				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)				CCAATAGAAAGAGGGTCCTGT	0.527000														373			209		0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36702083	36702083	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:36702083G>A	uc003apg.3	-	16	2283	c.2052C>T	c.(2050-2052)gaC>gaT	p.D684D	MYH9_uc003aph.1_Silent_p.D548D	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	684	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|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						CGAGATGCGGGTCCAGCTTGC	0.587000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					66			39		0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66499748	66499748	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:66499748C>T	uc004aee.1	+	0	558	c.558C>T	c.(556-558)ttC>ttT	p.F186F	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		CGTCCATTTTCGGGGTGGTGG	0.607000														99			5		0	0	1	0	0
PPEF1	5475	broad.mit.edu	37	X	18822094	18822094	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:18822094C>T	uc004cyq.3	+	13	1631	c.1150C>T	c.(1150-1152)Cca>Tca	p.P384S	PPEF1_uc004cyp.3_Missense_Mutation_p.P356S|PPEF1_uc004cyr.3_Intron|PPEF1_uc004cys.3_Missense_Mutation_p.P384S|PPEF1_uc011mja.2_Missense_Mutation_p.P319S|PPEF1_uc011mjb.2_Missense_Mutation_p.P328S	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	384	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CTATTTTGGACCAGATGTTAC	0.423000														28			75		0	0	1	0	0
OLFML1	283298	broad.mit.edu	37	11	7507224	7507224	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:7507224C>G	uc001mfi.3	+	0	625	c.118C>G	c.(118-120)Cga>Gga	p.R40G	BC040358_uc001mff.1_Intron|OLFML1_uc010raz.2_5'UTR|OLFML1_uc010rba.2_Missense_Mutation_p.R40G	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN	Homo sapiens olfactomedin-like 1 (OLFML1), mRNA.	40						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCAGCGCTTTCGAGTCTTGGA	0.502000														40			22		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69358639	69358639	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:69358639C>T	uc010lyz.3	+	2	842	c.551C>T	c.(550-552)tCa>tTa	p.S184L	C8orf34_uc010lyx.2_Missense_Mutation_p.S184L|C8orf34_uc010lyy.2_Missense_Mutation_p.S184L|C8orf34_uc003xyb.3_Missense_Mutation_p.S73L	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	98					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CCTAAAAAATCAAAAAGTGAC	0.328000														43			28		0	0	1	0	0
ZNF652	22834	broad.mit.edu	37	17	47394690	47394691	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:47394690_47394691CC>AT	uc002iov.4	-	1	861_862	c.397_398GG>AT	c.(397-399)ggg>ATg	p.G133M	ZNF652_uc002iow.3_Missense_Mutation_p.G133M|ZNF652_uc002iou.4_Intron	NM_001145365	NP_055712	Q9Y2D9	ZN652_HUMAN	Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA.	133	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			ACCCTTTTCCCCTTTAGATACA	0.436000														92			52		0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48936978	48936978	+	Nonsense_Mutation	SNP	C	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:48936978C>G	uc001vcb.3	+	7	912	c.746C>G	c.(745-747)tCa>tGa	p.S249*	RB1_uc010acs.1_Non-coding_Transcript|RB1_uc010act.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	249					G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|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|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor 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.?(6)		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)	ATTAATGGTTCACCTCGAACA	0.338000		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)				35			43		0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106460745	106460745	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:106460745G>A	uc001tlj.1	-	6	3201	c.1821C>T	c.(1819-1821)ttC>ttT	p.F607F		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	607							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						GGATCTGGAGGAAGTTTTCTG	0.612000														13			37		0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85326718	85326718	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:85326718G>A	uc002bld.3	+	3	1148	c.812G>A	c.(811-813)aGg>aAg	p.R271K	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	271					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTCCCCCCTAGGCAGCGTCTA	0.557000														105			67		0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26423293	26423294	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:26423293_26423294CC>TT	uc011dkl.1	+	1	242_243	c.212_213CC>TT	c.(211-213)tcc>tTT	p.S71F	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.																		TCTCAGTTCTCCCCTGCAGTGT	0.535000														59			42		0	0	1	0	0
RCOR2	283248	broad.mit.edu	37	11	63679791	63679791	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:63679791C>T	uc001nyc.3	-	10	1631	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K		NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN	Homo sapiens REST corepressor 2 (RCOR2), mRNA.	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						TCATCTTCCTCTAGGGCTGGG	0.652000														58			34		0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79374023	79374023	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:79374023C>T	uc021yaw.1	+	16	2429	c.2238C>T	c.(2236-2238)atC>atT	p.I746I	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	746	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ATGCCCAGATCGATCCCAACT	0.587000														13			16		0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133622784	133622784	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:133622784G>A	uc003vrk.3	+	13	2203	c.2168G>A	c.(2167-2169)cGa>cAa	p.R723Q	EXOC4_uc011kpo.2_Missense_Mutation_p.R622Q|EXOC4_uc003vrl.3_Missense_Mutation_p.R333Q|EXOC4_uc011kpp.2_Missense_Mutation_p.R255Q|EXOC4_uc011kpq.2_Missense_Mutation_p.R11Q	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	723					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TTGGCAAGTCGAACAAAGTCA	0.453000														53			38		0	0	1	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27868343	27868344	+	Missense_Mutation	DNP	GG	AC	AC	rs77750724		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:27868343_27868344GG>AC	uc003szl.3	+	16	2447_2448	c.2265_2266GG>AC	c.(2263-2268)aaggtg>aaACtg	p.V756L	TAX1BP1_uc011jzo.2_Missense_Mutation_p.V714L|TAX1BP1_uc003szk.3_Missense_Mutation_p.V714L|TAX1BP1_uc011jzp.2_Missense_Mutation_p.V557L	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA.	756					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GTCACTGGAAGGTGTGCCCGAT	0.431000														79			48		0	0	1	0	0
C20orf151	140893	broad.mit.edu	37	20	60989555	60989555	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:60989555C>T	uc002ycw.2	-	9	1049	c.852G>A	c.(850-852)ccG>ccA	p.P284P		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	284										large_intestine(3)|lung(3)|prostate(1)|skin(4)|stomach(1)	12	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			GGTCCACCTTCGGGGAGAGCT	0.701000														5			3		0	0	1	0	0
CLK1	1195	broad.mit.edu	37	2	201726168	201726168	+	Silent	SNP	A	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:201726168A>T	uc002uwe.2	-	2	364	c.183T>A	c.(181-183)tcT>tcA	p.S61S	CLK1_uc010zhi.1_Silent_p.S103S|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_5'UTR	NM_004071	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA.	61			S -> F (in dbSNP:rs55989135).		cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TCTCATTTATAGACCTGCTTT	0.363000														50			31		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157508948	157508948	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:157508948C>T	uc009wsm.3	-	6	1488	c.1330G>A	c.(1330-1332)Ggg>Agg	p.G444R	FCRL5_uc001fqu.3_Missense_Mutation_p.G444R|FCRL5_uc010phv.1_Missense_Mutation_p.G444R|FCRL5_uc010phw.1_Missense_Mutation_p.G359R|FCRL5_uc001fqv.1_Missense_Mutation_p.G444R|FCRL5_uc010phx.2_Missense_Mutation_p.G195R	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	444	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TAGTAGTTCCCTGAATGCTCT	0.587000														37			14		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501938	140501938	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140501938T>A	uc003lip.1	+	0	358	c.358T>A	c.(358-360)Tta>Ata	p.L120I		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	120	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAAGGAGAATTATTGATCCA	0.433000														66			66		0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37210285	37210285	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:37210285T>G	uc010xtl.2	+	5	881	c.659T>G	c.(658-660)cTt>cGt	p.L220R	ZNF567_uc002oeo.1_Missense_Mutation_p.L220R|ZNF567_uc010xtk.1_Missense_Mutation_p.L220R|ZNF567_uc002oep.4_Missense_Mutation_p.L189R|ZNF567_uc002oeq.1_Missense_Mutation_p.L189R	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	Homo sapiens zinc finger protein 567 (ZNF567), mRNA.	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAATCATTCCTTCAAAGGGGA	0.358000														27			16		0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6147624	6147624	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:6147624G>A	uc002mef.1	+	2	462	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	ACSBG2_uc002mee.1_5'UTR|ACSBG2_uc002meg.1_Missense_Mutation_p.E79K|ACSBG2_uc002meh.1_Missense_Mutation_p.E79K|ACSBG2_uc002mei.1_Missense_Mutation_p.E29K|ACSBG2_uc010xiz.1_Missense_Mutation_p.E79K	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	79					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAAAAAGTGGGAAATTCTGAA	0.433000														158			94		0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73076546	73076547	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:73076546_73076547CC>TT	uc001otu.3	+	18	5683_5684	c.5662_5663CC>TT	c.(5662-5664)cca>TTa	p.P1888L		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1888					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TCTCTACCATCCAGACACCTTT	0.579000														43			19		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35631824	35631824	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:35631824G>A	uc003xjr.2	+	15	2814	c.2486G>A	c.(2485-2487)cGa>cAa	p.R829Q	UNC5D_uc003xjs.2_Missense_Mutation_p.R824Q|UNC5D_uc003xju.2_Missense_Mutation_p.R405Q	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	829					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TAGAGTGAACGAGAAACCATC	0.423000														21			36		0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99945636	99945636	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:99945636C>T	uc004egd.4	-	9	998	c.642_splice	c.e9-1	p.R214_splice	SYTL4_uc010nnb.3_Splice_Site|SYTL4_uc010nnc.3_Splice_Site_p.R214_splice|SYTL4_uc004ege.4_Splice_Site_p.R214_splice|SYTL4_uc004egf.4_Splice_Site_p.R214_splice|SYTL4_uc004egg.4_Splice_Site_p.R214_splice	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	214					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGAGTCTCTCCTGGAGGTAGA	0.458000														8			20		0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132290185	132290185	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:132290185G>A	uc010sck.2	-	7	1017	c.967C>T	c.(967-969)Cct>Tct	p.P323S	OPCML_uc001qgu.3_Missense_Mutation_p.P307S|OPCML_uc001qgs.3_Missense_Mutation_p.P314S|OPCML_uc001qgt.3_Missense_Mutation_p.P313S|OPCML_uc010scl.2_Missense_Mutation_p.P273S	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	314					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.N322I(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		ACTGCTCCAGGCCCTGTGTAG	0.502000														32			33		0	0	1	0	0
ALG1	56052	broad.mit.edu	37	16	5127990	5127990	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:5127990G>A	uc002cym.3	+	5	753	c.712G>A	c.(712-714)Ggc>Agc	p.G238S	ALG1_uc002cyj.3_Missense_Mutation_p.G127S|ALG1_uc010bue.3_Missense_Mutation_p.G127S	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	Homo sapiens asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) (ALG1), mRNA.	238					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				CATGAAGCTGGGCAGCATGCA	0.587000														17			38		0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149639731	149639732	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:149639731_149639732CC>TT	uc011mxu.2	+	2	2121_2122	c.1811_1812CC>TT	c.(1810-1812)gcc>gTT	p.A604V	MAMLD1_uc011mxt.1_Missense_Mutation_p.A591V|MAMLD1_uc004fee.2_Missense_Mutation_p.A629V|MAMLD1_uc011mxv.2_Missense_Mutation_p.A604V|MAMLD1_uc011mxw.2_Missense_Mutation_p.A556V	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	629	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CGATCAGTGGCCTCAGATTCCA	0.495000														26			53		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90070088	90070088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:90070088C>T	uc003kju.3	+	59	12467	c.12371C>T	c.(12370-12372)tCa>tTa	p.S4124L	GPR98_uc003kjt.3_Missense_Mutation_p.S1830L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4124					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGCTGATATCAATTGATGAG	0.363000														41			26		0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359217	64359217	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:64359217C>T	uc001oam.1	+	0	936	c.189C>T	c.(187-189)atC>atT	p.I63I	SLC22A12_uc009ypr.1_Silent_p.I63I|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Silent_p.I63I|SLC22A12_uc001oan.1_Silent_p.I63I|SLC22A12_uc009ypt.3_5'Flank	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	63					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						AGGCCAGCATCCTAGGGAGCT	0.682000														31			33		0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47856522	47856522	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:47856522G>A	uc010xyn.2	+	1	584	c.235G>A	c.(235-237)Gag>Aag	p.E79K	DHX34_uc010elc.1_Missense_Mutation_p.E79K	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	79						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CTCCAGGAAGGAGGAGAAAGA	0.532000														86			70		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89521624	89521624	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:89521624C>T	uc003dqy.3	+	15	2926	c.2701C>T	c.(2701-2703)Ctt>Ttt	p.L901F	EPHA3_uc021xbf.1_Missense_Mutation_p.L901F	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	901						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)		GCCATCAAACCTTCTTCTGGA	0.468000										TSP Lung(6;0.00050)				172			59		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201046079	201046079	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:201046079T>C	uc001gvv.3	-	11	2023	c.1796A>G	c.(1795-1797)aAc>aGc	p.N599S		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	599					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)	TTGGGGAAAGTTGTCAAAGTT	0.537000														101			61		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201081319	201081319	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:201081319C>T	uc001gvv.3	-	0	376	c.149G>A	c.(148-150)tGg>tAg	p.W50*		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	50					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)	AGGATACTTCCATTCTACAAT	0.607000														39			31		0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154744670	154744670	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:154744670G>A	uc021pah.1	-	2	1543	c.1229C>T	c.(1228-1230)cCc>cTc	p.P410L	KCNN3_uc001ffo.3_Missense_Mutation_p.P105L|KCNN3_uc001ffp.3_Missense_Mutation_p.P410L|KCNN3_uc009wox.1_Missense_Mutation_p.P410L	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	415						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CAGGAACATGGGGATAGACAG	0.612000														40			32		0	0	1	0	0
METRNL	284207	broad.mit.edu	37	17	81042985	81042985	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:81042985C>T	uc002kgh.3	+	1	467	c.342C>T	c.(340-342)tcC>tcT	p.S114S	METRNL_uc002kgi.3_Silent_p.S32S	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	Homo sapiens meteorin, glial cell differentiation regulator-like (METRNL), mRNA.	114						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TCACGGACTCCTCGGGGGCCA	0.592000														71			34		0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72299936	72299936	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:72299936C>T	uc010rrc.2	-	12	1208	c.962G>A	c.(961-963)aGc>aAc	p.S321N	PDE2A_uc001oso.3_Missense_Mutation_p.S300N|PDE2A_uc010rra.2_Missense_Mutation_p.S314N|PDE2A_uc001osn.3_Intron|PDE2A_uc010rrb.2_Missense_Mutation_p.S312N|PDE2A_uc010rrd.2_Missense_Mutation_p.S206N	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	321	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GCCCAACATGCTCTGCAGCTG	0.597000														40			19		0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40104657	40104657	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:40104657C>T	uc003guy.4	+	3	1530	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	N4BP2_uc010ifq.3_Missense_Mutation_p.P318S|N4BP2_uc010ifr.3_Missense_Mutation_p.P318S	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	398						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CTACACATTTCCACCCTCAGT	0.428000														78			26		0	0	1	0	0
CABP5	56344	broad.mit.edu	37	19	48547137	48547137	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:48547137C>T	uc002phu.2	-	0	175	c.43G>A	c.(43-45)Ggc>Agc	p.G15S		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	Homo sapiens calcium binding protein 5 (CABP5), mRNA.	15					signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		TCAGCAATGCCTTTCCTCAAG	0.642000														41			22		0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24932042	24932042	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:24932042G>A	uc003sxf.3	-	1	455	c.50C>T	c.(49-51)cCt>cTt	p.P17L	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Missense_Mutation_p.P17L|OSBPL3_uc003sxh.3_Missense_Mutation_p.P17L|OSBPL3_uc003sxi.3_Missense_Mutation_p.P17L	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	17					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GCTCCTTGAAGGTGATACCAA	0.418000														38			31		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870960	51870960	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:51870960G>A	uc002xwo.3	+	1	1850	c.963G>A	c.(961-963)aaG>aaA	p.K321K	TSHZ2_uc021wex.1_Silent_p.K318K	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	321					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCCCGGCTAAGAAACGCGTTT	0.443000														71			52		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370494	56370494	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:56370494C>T	uc002qmd.4	+	2	2157	c.1735C>T	c.(1735-1737)Cat>Tat	p.H579Y	NLRP4_uc002qmf.3_Missense_Mutation_p.H504Y|NLRP4_uc010etf.3_Missense_Mutation_p.H410Y	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	579							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGCTAACTTTCATATTATTGA	0.428000														44			32		0	0	1	0	0
JDP2	122953	broad.mit.edu	37	14	75904815	75904815	+	Silent	SNP	G	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:75904815G>T	uc001xrq.3	+	1	418	c.225G>T	c.(223-225)gtG>gtT	p.V75V	JDP2_uc010asj.3_Silent_p.V64V|JDP2_uc010tvb.2_Silent_p.V64V|JDP2_uc010tvc.2_Silent_p.V64V	NM_001135049	NP_569736	Q8WYK2	JDP2_HUMAN	Homo sapiens Jun dimerization protein 2 (JDP2), transcript variant 4, mRNA.	64						nucleus	sequence-specific DNA binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)		CCCAGCCCGTGAAAAGTGAGG	0.562000														9			5		5.9392e-07	6.00682e-07	1	1	0
LIPI	149998	broad.mit.edu	37	21	15537711	15537711	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr21:15537711C>T	uc002yjm.3	-	6	807	c.797_splice	c.e6-1	p.G266_splice	LIPI_uc021whg.1_Splice_Site|LIPI_uc010gkw.2_Splice_Site_p.G215_splice|LIPI_uc021whh.1_Splice_Site_p.G245_splice|LIPI_uc021whi.1_Splice_Site_p.G80_splice|LIPI_uc021whj.1_Splice_Site_p.G245_splice|LIPI_uc021whe.1_Intron|LIPI_uc021whf.1_Splice_Site_p.G245_splice	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	245					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GAATTGAATTCCTTAAGGGTT	0.303000														26			17		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121746728	121746728	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:121746728G>A	uc010flp.3	+	12	3268	c.3238G>A	c.(3238-3240)Gag>Aag	p.E1080K	GLI2_uc002tmq.1_Missense_Mutation_p.E752K|GLI2_uc002tmr.1_Missense_Mutation_p.E735K|GLI2_uc002tmt.4_Missense_Mutation_p.E752K|GLI2_uc002tmu.4_Missense_Mutation_p.E735K	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1080					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E1080*(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGCTCTGGACGAGGGCACCGG	0.692000														100			51		0	0	1	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285397	44285397	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:44285397C>T	uc010qfe.1	-	0	469	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		CCGTACTTTTCAAAGTAGTCT	0.363000														51			31		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37026489	37026489	+	Silent	SNP	G	A	A	rs146333223		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:37026489G>A	uc004ddl.2	+	0	58	c.6G>A	c.(4-6)ggG>ggA	p.G2G		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	2										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCACCATGGGGGACCAGAGGC	0.662000														3			8		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55107571	55107571	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:55107571C>T	uc003dhf.3	+	35	3135	c.3087C>T	c.(3085-3087)ccC>ccT	p.P1029P	CACNA2D3_uc003dhg.1_Silent_p.P935P|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	1029						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.P1029P(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCATGGCACCCATTGAAATCA	0.507000														20			26		0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780616	37780616	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:37780616G>A	uc003tfm.1	+	0	621	c.621G>A	c.(619-621)atG>atA	p.M207I	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	207						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTATGTTGATGGTGCAGAAGC	0.408000														87			68		0	0	1	0	0
HERC5	51191	broad.mit.edu	37	4	89414189	89414189	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:89414189T>A	uc003hrt.3	+	16	2313	c.2160T>A	c.(2158-2160)taT>taA	p.Y720*	HERC5_uc011cdm.2_Nonsense_Mutation_p.Y358*	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	Homo sapiens hect domain and RLD 5 (HERC5), mRNA.	720	HECT.				ISG15-protein conjugation|innate immune response|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	p.G719V(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AAATTGGGTATGACCTCGGAG	0.408000														12			22		0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72110207	72110207	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:72110207G>A	uc002fby.3	+	4	304	c.274G>A	c.(274-276)Ggg>Agg	p.G92R	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	Homo sapiens haptoglobin-related protein (HPR), mRNA.	92					proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GACAGTATGTGGGAAGCCCAA	0.547000														5			10		0	0	1	0	0
CYB5R4	51167	broad.mit.edu	37	6	84646087	84646087	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:84646087T>C	uc003pkf.3	+	11	1232	c.1100T>C	c.(1099-1101)cTt>cCt	p.L367P		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.	367	FAD-binding FR-type.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CTTGATCGTCTTCAGATTGGT	0.363000														30			25		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32058099	32058099	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:32058099C>T	uc003jhl.3	+	11	2478	c.2090C>T	c.(2089-2091)aCc>aTc	p.T697I	PDZD2_uc003jhm.3_Missense_Mutation_p.T697I|PDZD2_uc011cnx.1_Missense_Mutation_p.T523I	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	697					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AACTTCAATACCAGTGGGGGA	0.562000														45			82		0	0	1	0	0
SUPT7L	9913	broad.mit.edu	37	2	27876607	27876607	+	Silent	SNP	C	T	T	rs138396494	by1000genomes	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:27876607C>T	uc002rli.1	-	5	1333	c.990G>A	c.(988-990)gaG>gaA	p.E330E	SUPT7L_uc002rlh.1_Silent_p.E330E|SUPT7L_uc010ymf.1_Silent_p.E195E|SUPT7L_uc010ezh.1_Silent_p.E328E|SUPT7L_uc002rlj.1_Silent_p.E328E	NM_014860	NP_055675	O94864	ST65G_HUMAN	Homo sapiens suppressor of Ty 7 (S. cerevisiae)-like (SUPT7L), mRNA.	330					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					AAGCATTTACCTCTGCACCTA	0.433000														91			57		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672369	186672369	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:186672369C>T	uc002upl.3	+	16	18603	c.18603C>T	c.(18601-18603)atC>atT	p.I6201I	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GATGCAAAATCCTTTCAGAAA	0.378000														94			39		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48371849	48371849	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:48371849G>A	uc001rqu.3	-	43	3236	c.3055C>T	c.(3055-3057)Cct>Tct	p.P1019S	COL2A1_uc001rqt.3_5'Flank|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.P950S	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	1019	Triple-helical region.		Missing (in hypochondrogenesis).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACGGGGCCAGGAGGACCTCTG	0.647000														22			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179408030	179408030	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:179408030C>T	uc021vsy.1	-	295	89191	c.88966G>A	c.(88966-88968)Gaa>Aaa	p.E29656K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E23351K|TTN_uc021vta.1_Missense_Mutation_p.E23284K|TTN_uc021vtb.1_Missense_Mutation_p.E23159K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30583	Ig-like 135.						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)			AGTGGTTTTTCCCAGGCAAGG	0.493000														93			54		0	0	1	0	0
INTS12	57117	broad.mit.edu	37	4	106604163	106604163	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:106604163G>A	uc003hxw.3	-	7	1374	c.1116C>T	c.(1114-1116)ggC>ggT	p.G372G	INTS12_uc010ilr.3_Silent_p.G372G	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	Homo sapiens integrator complex subunit 12 (INTS12), transcript variant 1, mRNA.	372	Ser-rich.				snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		AGCGACTAAGGCCAGTTTTAC	0.453000														95			98		0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455077	187455077	+	Silent	SNP	T	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:187455077T>C	uc003izd.1	-	1	837	c.819A>G	c.(817-819)ccA>ccG	p.P273P		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	273					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	ACAGCCACTCTGGGATCCTAG	0.498000														53			54		0	0	1	0	0
MED6	10001	broad.mit.edu	37	14	71059684	71059684	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:71059684G>A	uc010tth.2	-	4	430	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	MED6_uc001xmf.3_Nonsense_Mutation_p.Q127*|MED6_uc010tti.2_Nonsense_Mutation_p.Q127*|MED6_uc001xmg.1_Nonsense_Mutation_p.Q127*|MED6_uc010ttj.2_3'UTR	NM_005466	NP_005457	O75586	MED6_HUMAN	Homo sapiens mediator complex subunit 6 (MED6), mRNA.	127					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		AAAGCTGACTGAATACCATGC	0.353000														67			52		0	0	1	0	0
SPRY1	10252	broad.mit.edu	37	4	124322915	124322916	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:124322915_124322916CC>TT	uc003ifa.3	+	1	356_357	c.169_170CC>TT	c.(169-171)cct>TTt	p.P57F	SPRY1_uc003ifb.3_Missense_Mutation_p.P57F|SPRY1_uc021xro.1_Missense_Mutation_p.P57F	NM_199327	NP_955359	O43609	SPY1_HUMAN	Homo sapiens sprouty homolog 1, antagonist of FGF signaling (Drosophila) (SPRY1), transcript variant 2, mRNA.	57					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						CACAGAAGGGCCTTCGGTGGTG	0.436000														124			27		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8991815	8991815	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:8991815G>A	uc001quz.4	+	9	1175	c.1077G>A	c.(1075-1077)ggG>ggA	p.G359G		NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	203						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CCTTCAGTGGGAAGGTATGTT	0.408000														27			11		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160784358	160784358	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:160784358G>A	uc001fwu.3	+	3	929	c.879G>A	c.(877-879)agG>agA	p.R293R	LY9_uc010pjs.1_Silent_p.R293R|LY9_uc001fwv.3_Silent_p.R293R|LY9_uc001fww.3_Silent_p.R293R|LY9_uc001fwy.1_Silent_p.R195R|LY9_uc001fwz.3_5'UTR	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	293	Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCAAAGAGAGGGAAGAAGCAG	0.542000														64			42		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058878	79058878	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:79058878C>T	uc002bej.4	-	18	3586	c.3375G>A	c.(3373-3375)ctG>ctA	p.L1125L	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1125					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						ACCAAGGTCCCAGTACCCCCT	0.687000														26			15		0	0	1	0	0
TSPAN12	23554	broad.mit.edu	37	7	120428784	120428784	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:120428784C>T	uc003vjk.3	-	7	1154	c.780G>A	c.(778-780)atG>atA	p.M260I	TSPAN12_uc010lkj.3_Missense_Mutation_p.M133I	NM_012338	NP_036470	O95859	TSN12_HUMAN	Homo sapiens tetraspanin 12 (TSPAN12), mRNA.	260					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					TCAAGGACATCATTTGGTCTG	0.468000														76			54		0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114134036	114134037	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:114134036_114134037GG>AA	uc004bfe.1	-	43	5135_5136	c.5135_5136CC>TT	c.(5134-5136)tcc>tTT	p.S1712F		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TCATTTTCCAGGACTGAGACTG	0.426000														27			66		0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138657652	138657652	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:138657652C>T	uc003ldw.3	+	10	2071	c.1668C>T	c.(1666-1668)gcC>gcT	p.A556A	MATR3_uc003ldt.3_Silent_p.A218A|MATR3_uc003ldu.3_Silent_p.A556A|MATR3_uc010jfb.3_Silent_p.A556A|MATR3_uc003ldx.3_Silent_p.A556A|MATR3_uc003ldy.3_Silent_p.A233A|MATR3_uc003ldz.3_Silent_p.A556A|MATR3_uc011czb.2_Silent_p.A268A|MATR3_uc003leb.3_Silent_p.A218A|MATR3_uc003lec.3_Silent_p.A233A	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	556	RRM 2.					nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGAAAAAAGCCCTTTGGTTTC	0.368000														64			66		0	0	1	0	0
KLHL10	317719	broad.mit.edu	37	17	40004308	40004308	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:40004308G>A	uc010cxr.3	+	4	1718	c.1576G>A	c.(1576-1578)Gat>Aat	p.D526N	KLHL10_uc010wfw.2_Missense_Mutation_p.D438N	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	Homo sapiens kelch-like 10 (Drosophila) (KLHL10), mRNA.	526						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				CGAGGTGGTGGATGACCTCTT	0.473000														72			45		0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79078504	79078504	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:79078504G>A	uc002jzg.2	+	9	1365	c.1257G>A	c.(1255-1257)gaG>gaA	p.E419E	BAIAP2_uc002jyz.4_Silent_p.E419E|BAIAP2_uc002jza.2_Silent_p.E419E|BAIAP2_uc002jzc.2_Silent_p.E420E|BAIAP2_uc002jzb.2_Silent_p.E176E|BAIAP2_uc010wuh.1_Silent_p.E341E|BAIAP2_uc002jzd.2_Silent_p.E419E|BAIAP2_uc002jzf.2_Silent_p.E419E|BAIAP2_uc002jze.2_Silent_p.E452E|BAIAP2_uc002jzh.2_Silent_p.E420E|BAIAP2_uc010wui.2_Silent_p.E282E	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA.	419	SH3.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAGAGAGTGAGAAGACCAAGA	0.612000														8			4		0	0	1	0	0
PPP1R14D	54866	broad.mit.edu	37	15	41120747	41120748	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:41120747_41120748CC>TA	uc001zmz.3	-	0	160_161	c.92_93GG>TA	c.(91-93)agg>aTA	p.R31I	PPP1R14D_uc001zmy.3_Missense_Mutation_p.R31I	NM_001130143	NP_001123615	Q9NXH3	PP14D_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14D (PPP1R14D), transcript variant 2, mRNA.	31					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TGGATGATGTCCTTCTCCTCCC	0.579000														20			37		0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75514072	75514072	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:75514072T>C	uc001xrd.1	-	1	2503	c.2287A>G	c.(2287-2289)Aag>Gag	p.K763E	MLH3_uc001xre.1_Missense_Mutation_p.K763E|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	763					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTTTCAACCTTCCCATATTGC	0.393000								Mismatch excision repair (MMR)						109			53		0	0	1	0	0
NSFL1C	55968	broad.mit.edu	37	20	1447388	1447388	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:1447388C>T	uc002wfc.3	-	0	950	c.82G>A	c.(82-84)Gag>Aag	p.E28K	NSFL1C_uc021vzq.1_5'UTR|NSFL1C_uc002wfe.3_Missense_Mutation_p.E28K	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	Homo sapiens NSFL1 (p97) cofactor (p47) (NSFL1C), transcript variant 1, mRNA.	28						Golgi stack|chromosome|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CCGGCCGACTCGAGAAAGAAG	0.746000														1			2		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105167132	105167132	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:105167132G>A	uc004emd.3	+	17	2936	c.2633G>A	c.(2632-2634)gGa>gAa	p.G878E	NRK_uc010npc.1_Missense_Mutation_p.G546E	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	878							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTTAAAGTAGGAAAAATATCA	0.403000										HNSCC(51;0.14)				30			103		0	0	1	0	0
RAB3A	5864	broad.mit.edu	37	19	18313451	18313452	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:18313451_18313452CC>TT	uc002nie.2	-	1	268_269	c.99_100GG>AA	c.(97-102)gtgggc>gtAAgc	p.G34S		NM_002866	NP_002857	P20336	RAB3A_HUMAN	Homo sapiens RAB3A, member RAS oncogene family (RAB3A), mRNA.	34					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						GACGTCTTGCCCACGCTGCTGT	0.550000											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		167			74		0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88204514	88204514	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:88204514C>G	uc011lte.2	-	18	2754	c.2687G>C	c.(2686-2688)gGa>gCa	p.G896A	AGTPBP1_uc004aod.4_Missense_Mutation_p.G510A|AGTPBP1_uc011ltc.2_Intron|AGTPBP1_uc011ltd.2_Missense_Mutation_p.G884A|AGTPBP1_uc010mqc.3_Missense_Mutation_p.G844A	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	Homo sapiens ATP/GTP binding protein 1 (AGTPBP1), mRNA.	884					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GCAGCTGTTTCCAGACAGGGT	0.368000														20			47		0	0	1	0	0
HMP19	51617	broad.mit.edu	37	5	173531263	173531263	+	Silent	SNP	C	T	T	rs148432334		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:173531263C>T	uc003mcx.3	+	3	391	c.246C>T	c.(244-246)ttC>ttT	p.F82F	HMP19_uc011dfh.2_5'UTR	NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	Homo sapiens HMP19 protein (HMP19), mRNA.	82					dopamine receptor signaling pathway	Golgi cisterna membrane|cytoplasmic vesicle membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)	15	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCCTAGCTTTCCTTGCGTGCA	0.512000														42			35		0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41206336	41206336	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:41206336G>A	uc002oor.2	-	10	1216	c.914C>T	c.(913-915)cCc>cTc	p.P305L	ADCK4_uc002oop.1_5'UTR|ADCK4_uc002ooq.2_Missense_Mutation_p.P264L	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	305	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CCGGAAGAAGGGGTCATTTGC	0.632000														23			13		0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131371229	131371229	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:131371229C>T	uc004bvl.4	+	34	4710	c.4568C>T	c.(4567-4569)tCt>tTt	p.S1523F	SPTAN1_uc004bvm.4_Missense_Mutation_p.S1523F|SPTAN1_uc004bvn.4_Missense_Mutation_p.S1503F	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	1523					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGAGACATTTCTAGCCGGCGC	0.562000														195			136		0	0	1	0	0
ETV3	2117	broad.mit.edu	37	1	157105388	157105388	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:157105388G>A	uc001fqr.2	-	2	448	c.159C>T	c.(157-159)gtC>gtT	p.V53V	ETV3_uc001fqt.3_Silent_p.V53V	NM_001145312	NP_001138784	P41162	ETV3_HUMAN	Homo sapiens ets variant 3 (ETV3), transcript variant 1, mRNA.	53							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				GCCAGGCGATGACATGGCGGA	0.572000														49			37		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18347737	18347737	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:18347737G>A	uc002zng.4	-	18	2886	c.2533C>T	c.(2533-2535)Ctg>Ttg	p.L845L	MICAL3_uc011agl.2_Silent_p.L845L|MICAL3_uc002znh.2_Silent_p.L845L|MICAL3_uc002znj.1_Silent_p.L573L|MICAL3_uc002znk.1_Silent_p.L845L|MICAL3_uc002znl.1_Silent_p.L478L|MICAL3_uc002znm.3_Silent_p.L346L|MICAL3_uc010grf.3_Silent_p.L969L	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	845						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCATCCTGCAGGGGTCCTTTG	0.542000														74			46		0	0	1	0	0
VWC2	375567	broad.mit.edu	37	7	49842382	49842382	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:49842382G>A	uc003tot.1	+	2	1328	c.772G>A	c.(772-774)Gag>Aag	p.E258K		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	Homo sapiens von Willebrand factor C domain containing 2 (VWC2), mRNA.	258	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						TCCCCAGACGGAGTGTGTGGA	0.567000														59			41		0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6731932	6731932	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:6731932G>A	uc002mfp.3	-	13	1316	c.1270C>T	c.(1270-1272)Ctc>Ttc	p.L424F	GPR108_uc010duv.3_Intron	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	424						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GCATCCTGGAGATGCCGGATG	0.672000														18			13		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28576878	28576878	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:28576878G>A	uc002kwj.4	-	14	2527	c.2372C>T	c.(2371-2373)tCc>tTc	p.S791F	DSC3_uc002kwi.4_Missense_Mutation_p.S791F	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	791					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CCCCCGGCAGGATTCCAAGGT	0.507000														17			31		0	0	1	0	0
TRIM39-RPP21	202658	broad.mit.edu	37	6	30309876	30309876	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:30309876C>T	uc010jrz.3	+	8	1709	c.1397C>T	c.(1396-1398)gCc>gTc	p.A466V	TRIM39-RPP21_uc003npz.3_Missense_Mutation_p.A436V|TRIM39-RPP21_uc003nqb.3_Missense_Mutation_p.A436V|TRIM39-RPP21_uc003nqc.3_Missense_Mutation_p.A436V|TRIM39-RPP21_uc010jsa.2_Intron	NM_021253	NP_067076	A6ZJ12	A6ZJ12_HUMAN	Homo sapiens tripartite motif containing 39 (TRIM39), transcript variant 1, mRNA.	0						intracellular	zinc ion binding										GACTATGAGGCCGGCACACTG	0.483000														43			27		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55161422	55161422	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:55161422G>A	uc003han.4	+	22	3584	c.3253G>A	c.(3253-3255)Gaa>Aaa	p.E1085K	PDGFRA_uc003haa.3_Missense_Mutation_p.E845K	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	1085	Ser-rich.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.E1085K(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGACCTGGTGGAAGACAGCTT	0.517000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				59			68		0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23346513	23346513	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:23346513C>G	uc001whd.3	+	6	2472	c.1919C>G	c.(1918-1920)cCa>cGa	p.P640R	LRP10_uc001whe.3_Intron	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	640	Pro-rich.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GCCCCAGGGCCACTGCCCTCA	0.677000														114			76		0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55339891	55339891	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:55339891G>A	uc010rih.2	+	0	288	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GCGAGTGCATGATCCAAGTCT	0.468000														177			89		0	0	1	0	0
SPI1	6688	broad.mit.edu	37	11	47381520	47381520	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:47381520C>T	uc001nfb.1	-	2	440	c.217G>A	c.(217-219)Gag>Aag	p.E73K	SPI1_uc001nfc.1_Missense_Mutation_p.E72K|SLC39A13_uc001nfd.3_Intron|SPI1_uc009ylp.1_Missense_Mutation_p.E66K	NM_001080547	NP_001074016	P17947	SPI1_HUMAN	Homo sapiens spleen focus forming virus (SFFV) proviral integration oncogene spi1 (SPI1), transcript variant 1, mRNA.	72					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	RNA binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		CTCTGGAGCTCCGTGAAGTTG	0.632000														22			21		0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58007140	58007140	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:58007140C>T	uc001spb.3	+	2	866	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	ARHGEF25_uc009zpy.3_Nonsense_Mutation_p.Q175*|ARHGEF25_uc001soz.1_Intron|ARHGEF25_uc001spa.3_Nonsense_Mutation_p.Q30*|BC073932_uc001spc.3_Non-coding_Transcript	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 25 (ARHGEF25), transcript variant 1, mRNA.	136					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	p.Q136Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						AGATAAGACGCAGGTGTGAGG	0.577000														52			32		0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89869856	89869856	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:89869856G>A	uc002bns.4	-	8	1981	c.1699C>T	c.(1699-1701)Cct>Tct	p.P567S	POLG_uc002bnr.4_Missense_Mutation_p.P567S	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	567					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGGTGTCCAGGAAGGTGCTGG	0.612000								DNA polymerases (catalytic subunits)						45			35		0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26534898	26534898	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:26534898G>A	uc001isp.2	+	7	1392	c.889G>A	c.(889-891)Gac>Aac	p.D297N	GAD2_uc001isq.2_Missense_Mutation_p.D297N	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	297					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GATTGGAACAGACAGCGTGAT	0.398000														9			27		0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135490920	135490920	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:135490920C>T	uc003yup.3	-	15	3723	c.3537G>A	c.(3535-3537)caG>caA	p.Q1179Q	ZFAT_uc011ljj.2_Silent_p.Q298Q|ZFAT_uc003yun.3_Silent_p.Q1167Q|ZFAT_uc003yuo.3_Silent_p.Q1167Q|ZFAT_uc010meh.3_Silent_p.Q1081Q|ZFAT_uc010mej.3_Silent_p.Q1117Q|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.Q1167Q	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	1179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGACCGTCTCCTGGATCATGA	0.637000														7			4		0	0	1	0	0
YWHAG	7532	broad.mit.edu	37	7	75959290	75959290	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:75959290C>T	uc011kgj.1	-	1	565	c.348G>A	c.(346-348)caG>caA	p.Q116Q		NM_012479	NP_036611	P61981	1433G_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide (YWHAG), mRNA.	116					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						TGCTCTCGTACTGGGTCTCGC	0.547000														114			76		0	0	1	0	0
POLR2H	5437	broad.mit.edu	37	3	184085980	184085980	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:184085980C>T	uc003fok.2	+	4	438	c.351C>T	c.(349-351)tcC>tcT	p.S117S		NM_006232	NP_006223	P52434	RPAB3_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide H (POLR2H), mRNA.	117					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA-directed RNA polymerase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGTACGTGTCCTATGGGGGCC	0.542000														54			44		0	0	1	0	0
FBXO3	26273	broad.mit.edu	37	11	33795990	33795991	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:33795990_33795991GG>AA	uc001muz.3	-	0	81_82	c.53_54CC>TT	c.(52-54)acc>aTT	p.T18I	FBXO3_uc001muy.3_5'Flank|FBXO3_uc009ykb.3_Non-coding_Transcript|FBXO3_uc001mva.1_Missense_Mutation_p.T18I|FBXO3_uc001mvb.1_Missense_Mutation_p.T18I|FBXO3_uc010rek.1_Non-coding_Transcript	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	Homo sapiens F-box protein 3 (FBXO3), transcript variant 1, mRNA.	18	F-box.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		GCAGGGGATCGGTGGGCAGCGA	0.658000														14			4		0	0	1	0	0
OTOP2	92736	broad.mit.edu	37	17	72926463	72926463	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:72926463C>T	uc010wrp.2	+	5	825	c.733C>T	c.(733-735)Ccc>Tcc	p.P245S		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	245						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CTACCTATATCCCTTCAACAT	0.572000														220			114		0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112969645	112969645	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:112969645C>T	uc003dzx.3	+	3	962	c.341C>T	c.(340-342)gCt>gTt	p.A114V	BOC_uc010hqi.3_Missense_Mutation_p.A114V|BOC_uc003dzy.3_Missense_Mutation_p.A114V|BOC_uc003dzz.3_Missense_Mutation_p.A114V|BOC_uc003dzw.1_Missense_Mutation_p.A114V|BOC_uc003eaa.1_Missense_Mutation_p.A114V	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	114	Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CCTGCGGGGGCTGTGGCCAGC	0.637000														31			27		0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39170406	39170406	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:39170406C>G	uc003cjc.2	+	13	2077	c.1900C>G	c.(1900-1902)Cgg>Ggg	p.R634G	TTC21A_uc011ayx.1_Missense_Mutation_p.R586G|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	634							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGAGGCCCTCCGGCTGAATGG	0.572000														39			34		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597335	136597335	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:136597335G>A	uc003qgx.1	-	4	1581	c.1328C>T	c.(1327-1329)tCa>tTa	p.S443L	BCLAF1_uc003qgy.1_Missense_Mutation_p.S441L|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.S441L|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	443					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)		GCCTTTCAGTGAAACTTTGGA	0.398000														94			49		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50530545	50530545	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:50530545G>A	uc003bjj.3	+	1	296	c.213G>A	c.(211-213)ctG>ctA	p.L71L	MOV10L1_uc003bjk.4_Silent_p.L71L|MOV10L1_uc011arp.2_Silent_p.L51L|MOV10L1_uc010han.3_Silent_p.L51L	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	71					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GAGTGCTTCTGAATGTTGGAC	0.428000														71			51		0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97216948	97216949	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:97216948_97216949CC>TT	uc002swe.3	+	6	783_784	c.683_684CC>TT	c.(682-684)tcc>tTT	p.S228F	ARID5A_uc010yuq.2_Missense_Mutation_p.S176F|ARID5A_uc002swf.3_Missense_Mutation_p.S64F|ARID5A_uc002swg.3_Missense_Mutation_p.S176F	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA.	228					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						TCTTCTGTGTCCTTTGTGGGTG	0.594000														66			39		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542055	55542055	+	Silent	SNP	T	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:55542055T>C	uc003xsd.1	+	3	5761	c.5613T>C	c.(5611-5613)ttT>ttC	p.F1871F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1871					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTCATTCCTTTATTTCTGCTG	0.413000														39			37		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190250829	190250829	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:190250829G>A	uc001gse.1	-	2	520	c.288C>T	c.(286-288)ttC>ttT	p.F96F	FAM5C_uc010pot.1_Intron	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	96						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GAGAGCCAAGGAAATTTCTTC	0.403000														51			27		0	0	1	0	0
FGF3	2248	broad.mit.edu	37	11	69625098	69625098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:69625098G>A	uc001oph.3	-	2	1186	c.695C>T	c.(694-696)tCc>tTc	p.S232F		NM_005247	NP_005238	P11487	FGF3_HUMAN	Homo sapiens fibroblast growth factor 3 (FGF3), mRNA.	232					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CTCCAGCTGGGAGCCCAGTCT	0.672000														12			7		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92731610	92731610	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:92731610G>A	uc003umf.3	-	2	4071	c.3801C>T	c.(3799-3801)tcC>tcT	p.S1267S	SAMD9_uc003umg.3_Silent_p.S1267S|SAMD9_uc022ahg.1_Silent_p.S1267S	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1267						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)			AAAAATCAAAGGACTTTTTCA	0.318000														46			39		0	0	1	0	0
ODF4	146852	broad.mit.edu	37	17	8249104	8249104	+	Silent	SNP	G	A	A	rs138113934		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:8249104G>A	uc002gle.1	+	2	890	c.708G>A	c.(706-708)acG>acA	p.T236T		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA.	236					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						GGGCACAGACGATCACAGACA	0.522000														62			49		0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639852	97639852	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:97639852C>T	uc001vmx.1	-	3	406	c.162G>A	c.(160-162)gtG>gtA	p.V54V	OXGR1_uc010afr.1_Silent_p.V54V|OXGR1_uc021rlr.1_Silent_p.V54V	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) receptor 1 (OXGR1), mRNA.	54						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AAGTGGATATCACTACTGCAT	0.453000														46			22		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182347105	182347105	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:182347105G>A	uc002unu.3	+	7	1622	c.859G>A	c.(859-861)Gat>Aat	p.D287N	ITGA4_uc010zfl.1_Missense_Mutation_p.D287N	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	287					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATTCAGCATTGATGAAAAAGA	0.308000														23			16		0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10252841	10252841	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:10252841G>A	uc002mng.3	-	28	3304	c.3124C>T	c.(3124-3126)Ctc>Ttc	p.L1042F	DNMT1_uc002mnf.3_5'UTR|DNMT1_uc010xlc.2_Missense_Mutation_p.L1058F|DNMT1_uc002mnh.3_Missense_Mutation_p.L937F|DNMT1_uc010xld.2_Missense_Mutation_p.L1042F	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1042	BAH 2.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CTCCAGTAGAGCAGGTTGATG	0.627000														52			35		0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11338875	11338875	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:11338875G>A	uc002rbd.1	-	23	3385	c.2936C>T	c.(2935-2937)aCt>aTt	p.T979I		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	979	RHOA binding (By similarity).				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	p.L978I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AACATCACTAGTTAGTGTCCT	0.264000														22			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179458819	179458819	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:179458819T>G	uc021vsy.1	-	245	50822	c.50597A>C	c.(50596-50598)cAt>cCt	p.H16866P	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.H10561P|TTN_uc021vta.1_Missense_Mutation_p.H10494P|TTN_uc021vtb.1_Missense_Mutation_p.H10369P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17793	Fibronectin type-III 22.						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)			AGTCTTTATATGAGTGCGATC	0.468000														65			35		0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96425208	96425208	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:96425208G>A	uc004aub.3	+	12	1865	c.1718G>A	c.(1717-1719)aGt>aAt	p.S573N	PHF2_uc011lug.1_Missense_Mutation_p.S456N|PHF2_uc004auc.3_5'UTR	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	573	Lys-rich.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AGTGTCCTGAGTGTGCCCAAC	0.507000														21			56		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7117251	7117251	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:7117251T>C	uc002mgd.1	-	21	4074	c.3965A>G	c.(3964-3966)gAg>gGg	p.E1322G	INSR_uc002mge.1_Missense_Mutation_p.E1310G	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1322					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|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|PTB domain binding|SH2 domain 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|receptor signaling protein tyrosine kinase activity	p.E1322G(2)		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)	CTCCATGTCCTCAAACTCCAT	0.617000														75			51		0	0	1	0	0
RASD2	23551	broad.mit.edu	37	22	35947954	35947954	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:35947954G>A	uc003anx.3	+	2	881	c.676G>A	c.(676-678)Gac>Aac	p.D226N	RASD2_uc003any.3_Missense_Mutation_p.D226N	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	226	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	p.D226D(1)		endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CAAGGAGATGGACGCCTATGG	0.647000														47			30		0	0	1	0	0
ZNF273	10793	broad.mit.edu	37	7	64388724	64388724	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:64388724C>T	uc003tto.3	+	3	1094	c.1018C>T	c.(1018-1020)Cat>Tat	p.H340Y	ZNF273_uc003ttl.3_Missense_Mutation_p.H275Y|ZNF273_uc003ttn.3_Missense_Mutation_p.H275Y	NM_021148	NP_066971	Q14593	ZN273_HUMAN	Homo sapiens zinc finger protein 273 (ZNF273), transcript variant 1, mRNA.	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TAAGATAATTCATACTGGAGA	0.343000														31			21		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7335133	7335133	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:7335133G>A	uc001mfe.3	+	2	1242	c.1005G>A	c.(1003-1005)agG>agA	p.R335R	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	335						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATTTCCCCAGGGAGTGCATCC	0.468000														80			73		0	0	1	0	0
NEDD8-MDP1	100528064	broad.mit.edu	37	14	24684863	24684863	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:24684863C>T	uc001wnl.2	-	2	219	c.104G>A	c.(103-105)gGa>gAa	p.G35E	TM9SF1_uc010tob.1_5'Flank|TM9SF1_uc010toc.2_5'Flank|TM9SF1_uc001wni.3_5'Flank|TM9SF1_uc001wnj.3_5'UTR|NEDD8-MDP1_uc001wnk.2_Missense_Mutation_p.G35E|NEDD8-MDP1_uc021rrl.1_Missense_Mutation_p.G35E|NEDD8-MDP1_uc001wnm.2_Missense_Mutation_p.G35E|NEDD8-MDP1_uc021rrm.1_Missense_Mutation_p.G52E	NM_138476	NP_612485			Homo sapiens magnesium-dependent phosphatase 1 (MDP1), transcript variant 1, mRNA.																		TCGTACAGTTCCATCACTGGA	0.617000											OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		128			119		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53908026	53908026	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:53908026C>T	uc002acj.2	-	14	2419	c.2377G>A	c.(2377-2379)Gac>Aac	p.D793N	WDR72_uc010bfi.1_Missense_Mutation_p.D793N	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	793										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTTGCTGTGTCTATTGTGAGA	0.373000														72			120		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22951289	22951289	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:22951289C>G	uc010aje.1	+	2	447	c.347C>G	c.(346-348)cCc>cGc	p.P116R	TCRA_uc001wbw.2_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron|AK093552_uc001wds.1_Intron|TCRA_uc001wdv.4_Intron|TCRA_uc001wec.3_Intron|TCRA_uc001wee.4_Intron|TCRA_uc010tmt.1_Intron|TCRA_uc010ajv.1_Non-coding_Transcript|TCRA_uc001weg.2_5'UTR|TCRA_uc001weh.1_5'Flank					Homo sapiens TRD mRNA for T cell receptor alpha chain, partial cds, allele:TRDV1.1 and TRAJ54*01.																		TTCAGGGAGCCCAGAAGCTGG	0.512000														25			16		0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129951877	129951878	+	Splice_Site	DNP	GG	AA	AA	rs147548483	byFrequency	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:129951877_129951878GG>AA	uc003vpr.3	+	10	1041	c.994_splice	c.e10-1	p.D332_splice	CPA4_uc011kpd.2_Splice_Site_p.D299_splice|CPA4_uc011kpe.2_Splice_Site_p.D228_splice	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	Homo sapiens carboxypeptidase A4 (CPA4), transcript variant 1, mRNA.	332					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)					CCCCTTCCCAGGACAAGGTGGC	0.559000														32			11		0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105436533	105436533	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:105436533C>T	uc003yly.4	-	6	1306	c.1177G>A	c.(1177-1179)Gga>Aga	p.G393R		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	393					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCTATTCTTCCTTTTCTTGGA	0.378000														83			46		0	0	1	0	0
FGF11	2256	broad.mit.edu	37	17	7344826	7344826	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:7344826G>A	uc002ggz.3	+	1	481	c.230G>A	c.(229-231)tGc>tAc	p.C77Y	SPEM1_uc010vtw.1_Silent_p.L55L|FGF11_uc010cmh.1_Non-coding_Transcript|FGF11_uc010cmi.3_5'UTR|FGF11_uc010vtx.2_Missense_Mutation_p.C18Y	NM_004112	NP_004103	Q92914	FGF11_HUMAN	Homo sapiens fibroblast growth factor 11 (FGF11), mRNA.	77					cell-cell signaling|nervous system development|signal transduction		growth factor activity			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				AAACTGTTCTGCCGCCAGGGT	0.542000														40			24		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995044	140995045	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:140995044_140995045GG>AA	uc004fbt.3	+	3	2178_2179	c.1854_1855GG>AA	c.(1852-1857)ggggag>ggAAag	p.E619K	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.E278K	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	619							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTTCAGGGGGAGGAATTCCA	0.569000										HNSCC(15;0.026)				95			226		0	0	1	0	0
ABHD16B	140701	broad.mit.edu	37	20	62493878	62493878	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:62493878G>A	uc002ygx.1	+	0	1313	c.985G>A	c.(985-987)Ggc>Agc	p.G329S	TPD52L2_uc002ygy.3_5'Flank|TPD52L2_uc021wgf.1_5'Flank|TPD52L2_uc021wgg.1_5'Flank|TPD52L2_uc011abk.2_5'Flank|TPD52L2_uc002ygz.3_5'Flank|TPD52L2_uc002yha.3_5'Flank|TPD52L2_uc002yhb.3_5'Flank|TPD52L2_uc011abl.2_5'Flank|TPD52L2_uc002yhc.3_5'Flank|TPD52L2_uc002yhd.3_5'Flank|TPD52L2_uc021wgh.1_5'Flank|TPD52L2_uc021wgi.1_5'Flank	NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	Homo sapiens abhydrolase domain containing 16B (ABHD16B), mRNA.	329							hydrolase activity			endometrium(2)|kidney(1)|lung(3)	6						CAGCACTTCGGGCCGCCTGCG	0.697000														13			5		0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118598702	118598702	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:118598702G>A	uc003pxx.4	+	5	1041	c.840G>A	c.(838-840)tgG>tgA	p.W280*		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.	280					transport	integral to membrane		p.W280*(2)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCTGGGACTGGCAAATAGGTA	0.433000														145			4		0	0	1	0	0
TREX1	11277	broad.mit.edu	37	3	48508989	48508989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:48508989C>T	uc003ctj.3	+	1	2357	c.1100C>T	c.(1099-1101)cCt>cTt	p.P367L	TREX1_uc010hjy.3_Missense_Mutation_p.P312L|TREX1_uc010hjz.3_Missense_Mutation_p.P312L|TREX1_uc003ctk.3_Missense_Mutation_p.P173L|TREX1_uc010hka.3_Missense_Mutation_p.P367L	NM_033629	NP_338599	Q9NSU2	TREX1_HUMAN	Homo sapiens three prime repair exonuclease 1 (TREX1), transcript variant 4, mRNA.	367					DNA recombination|DNA replication|cell death|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|MutLalpha complex binding|MutSalpha complex binding|exodeoxyribonuclease III activity|metal ion binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTGGCCACACCTGGGGAGTAG	0.592000														22			21		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92600267	92600267	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:92600267G>A	uc001pdj.4	+	20	12036	c.12019G>A	c.(12019-12021)Gag>Aag	p.E4007K	FAT3_uc001pdi.4_Missense_Mutation_p.E447K	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4007	Laminin G-like.				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)				CAGCTTCGCGGAGGTGGTGGG	0.667000										TCGA Ovarian(4;0.039)				6			4		0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38800438	38800438	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:38800438G>A	uc003gtl.3	-	3	289	c.15C>T	c.(13-15)ttC>ttT	p.F5F	TLR1_uc021xnn.1_Silent_p.F5F	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	5					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TGGCAAAATGGAAGATGCTAG	0.323000														16			12		0	0	1	0	0
SLC25A27	9481	broad.mit.edu	37	6	46623636	46623636	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:46623636C>T	uc003oyh.3	+	1	441	c.163C>T	c.(163-165)Ctt>Ttt	p.L55F	SLC25A27_uc011dwb.2_Missense_Mutation_p.L55F|SLC25A27_uc003oyg.3_Missense_Mutation_p.L55F|SLC25A27_uc011dwc.2_5'UTR|SLC25A27_uc003oyi.3_5'Flank	NM_004277	NP_004268	O95847	UCP4_HUMAN	Homo sapiens solute carrier family 25, member 27 (SLC25A27), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	55					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			AGAAGCAGCTCTTGCTCGGTT	0.483000														62			57		0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145416847	145416847	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:145416847C>T	uc001eni.2	+	3	1517	c.1192C>T	c.(1192-1194)Ccc>Tcc	p.P398S	HFE2_uc001enk.2_Missense_Mutation_p.P285S|HFE2_uc001enj.2_Missense_Mutation_p.P172S|HFE2_uc001enl.2_Missense_Mutation_p.P172S|HFE2_uc021oux.1_Missense_Mutation_p.P172S	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	398					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCATCTCTTCCCCTCAGATGC	0.522000														71			39		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35805956	35805956	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:35805956T>C	uc003zyd.3	+	13	2177	c.2177T>C	c.(2176-2178)tTg>tCg	p.L726S	NPR2_uc010mlb.3_Missense_Mutation_p.L702S	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	726	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CCTTTCTACTTGGAGGGCCTG	0.532000														59			40		0	0	1	0	0
LRRC20	55222	broad.mit.edu	37	10	72100313	72100313	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:72100313G>A	uc001jqx.1	-	2	450	c.228C>T	c.(226-228)ctC>ctT	p.L76L	LRRC20_uc001jqy.1_Silent_p.L76L|LRRC20_uc001jqz.1_Intron	NM_207119	NP_997002	Q8TCA0	LRC20_HUMAN	Homo sapiens leucine rich repeat containing 20 (LRRC20), transcript variant 1, mRNA.	76										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						GCCTACCTCGGAGCTGACTGA	0.597000														48			25		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021841	132021841	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:132021841A>T	uc002tsn.2	+	14	2865	c.2813A>T	c.(2812-2814)aAg>aTg	p.K938M	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.K538M|POTEE_uc002tsl.2_Missense_Mutation_p.K520M|POTEE_uc010fmy.1_Missense_Mutation_p.K402M	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	938	Actin-like.						ATP binding										TCCCTAGAGAAGAGCTACGAG	0.617000														291			11		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20024225	20024225	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:20024225C>T	uc001umd.3	-	13	1175	c.964G>A	c.(964-966)Gga>Aga	p.G322R	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.G211R|TPTE2_uc001ume.3_Missense_Mutation_p.G245R|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	322	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.K322I(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CCTTTGCCTCCTTTACAGTGA	0.328000														38			44		0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2606501	2606501	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:2606501C>T	uc001lwn.3	+	7	1200	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	KCNQ1_uc009ydp.1_Silent_p.F148F|KCNQ1_uc001lwo.3_Silent_p.F237F	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	364					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	AGAAGCACTTCAACCGGCAGA	0.592000														67			43		0	0	1	0	0
PPT1	5538	broad.mit.edu	37	1	40544325	40544325	+	Silent	SNP	G	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:40544325G>T	uc001cfb.2	-	6	865	c.633C>A	c.(631-633)atC>atA	p.I211I	PPT1_uc010ojf.1_Silent_p.I161I|PPT1_uc010ojg.1_Silent_p.I108I|PPT1_uc009vwa.2_Non-coding_Transcript	NM_000310	NP_000301	P50897	PPT1_HUMAN	Homo sapiens palmitoyl-protein thioesterase 1 (PPT1), transcript variant 1, mRNA.	211					DNA fragmentation involved in apoptotic nuclear change|brain development|cofactor metabolic process|cofactor transport|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	Golgi apparatus|axon|cytosol|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGACTCATTGATACCCTGAA	0.478000														22			38		8.73648e-17	8.92914e-17	1	1	0
ADAM2	2515	broad.mit.edu	37	8	39604026	39604026	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:39604026C>T	uc003xnj.3	-	18	2214	c.2139G>A	c.(2137-2139)agG>agA	p.R713R	ADAM2_uc003xnk.3_Silent_p.R694R|ADAM2_uc011lck.2_Silent_p.R650R|ADAM2_uc003xnl.3_Silent_p.R557R	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	713					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCCATTTTTTCCTTTGGAAAT	0.284000														49			40		0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186330938	186330939	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:186330938_186330939CC>TT	uc003fqk.4	+	0	89_90	c.8_9CC>TT	c.(7-9)tcc>tTT	p.S3F	AHSG_uc003fqj.3_Missense_Mutation_p.S3F	NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	3					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCCATGAAGTCCCTCGTCCTGC	0.604000														28			9		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645996	51645996	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:51645996C>T	uc002pvv.1	+	0	439	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	SIGLEC7_uc002pvw.1_Missense_Mutation_p.R124C|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Missense_Mutation_p.R124C	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	124					cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.R124C(2)|p.R124H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ATACTTCTTTCGTATGGAGAA	0.478000														65			47		0	0	1	0	0
ESR2	2100	broad.mit.edu	37	14	64724025	64724025	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:64724025T>A	uc001xha.1	-	5	1478	c.1010A>T	c.(1009-1011)gAg>gTg	p.E337V	ESR2_uc001xgy.2_Missense_Mutation_p.E337V|ESR2_uc001xgu.3_Missense_Mutation_p.E337V|ESR2_uc001xgv.3_Missense_Mutation_p.E337V|ESR2_uc001xgw.3_Intron|ESR2_uc001xgx.3_Missense_Mutation_p.E337V|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Intron|ESR2_uc001xgz.2_Missense_Mutation_p.E337V|ESR2_uc010aqd.1_Non-coding_Transcript	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	337	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CATTAACACCTCCATCCAACA	0.547000														105			50		0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44533686	44533686	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:44533686C>T	uc002xqm.2	-	7	1372	c.837G>A	c.(835-837)gaG>gaA	p.E279E	PLTP_uc002xql.2_Silent_p.E171E|PLTP_uc010zxj.2_Silent_p.E164E|PLTP_uc002xqq.2_Silent_p.E228E|PLTP_uc002xqn.2_Silent_p.E259E|PLTP_uc002xqo.2_Silent_p.E207E	NM_001242921	NP_001229850	P55058	PLTP_HUMAN	Homo sapiens phospholipid transfer protein (PLTP), transcript variant 4, mRNA.	259					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				TCCGCTCTTCCTCCTGCAGCT	0.637000														76			33		0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2473484	2473485	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:2473484_2473485GG>AA	uc003smc.3	+	1	1373_1374	c.1210_1211GG>AA	c.(1210-1212)ggc>AAc	p.G404N	CHST12_uc003smd.3_Missense_Mutation_p.G404N|CHST12_uc021zyu.1_Missense_Mutation_p.G404N|CHST12_uc021zyv.1_Missense_Mutation_p.G404N	NM_001243794	NP_001230723	Q9NRB3	CHSTC_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA.	404					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		TGTTCTCTTCGGCTACCCCAAG	0.574000														78			56		0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100649297	100649297	+	Missense_Mutation	SNP	G	A	A	rs142108260		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:100649297G>A	uc002bvv.1	-	13	1992	c.1913C>T	c.(1912-1914)tCg>tTg	p.S638L	ADAMTS17_uc002bvx.1_Missense_Mutation_p.S395L	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	638	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCCGAGGGGCGAGCAGTAGAG	0.627000														9			27		0	0	1	0	0
C2orf62	375307	broad.mit.edu	37	2	219222449	219222449	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:219222449C>T	uc002vhr.3	+	2	340	c.311C>T	c.(310-312)tCc>tTc	p.S104F		NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	Homo sapiens chromosome 2 open reading frame 62 (C2orf62), mRNA.	104										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCGGAAATTCCCTCCTGGGT	0.537000														64			30		0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128183669	128183669	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:128183669C>T	uc002tol.3	+	6	634	c.607C>T	c.(607-609)Cct>Tct	p.P203S	PROC_uc002tok.3_Missense_Mutation_p.P182S|PROC_uc010yzi.2_Missense_Mutation_p.P238S|PROC_uc010yzj.2_Missense_Mutation_p.P77S|PROC_uc010yzk.2_Missense_Mutation_p.P237S|MIR4783_uc021vno.1_5'Flank	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	182					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AGTGAAGTTCCCTTGTGGGAG	0.592000														42			39		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88420231	88420231	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:88420231C>T	uc002bme.2	-	19	2761	c.2455G>A	c.(2455-2457)Gag>Aag	p.E819K	NTRK3_uc002bmh.2_Missense_Mutation_p.E797K|NTRK3_uc002bmf.2_Missense_Mutation_p.E805K|NTRK3_uc021sua.1_Missense_Mutation_p.E797K	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	819	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGTAGATCTCCTTGATGTTC	0.542000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				14			58		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46786383	46786383	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:46786383C>T	uc003bhw.1	-	17	6251	c.6251_splice	c.e17-1	p.G2084_splice	CELSR1_uc011arc.1_Splice_Site_p.G405_splice	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2084					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GACCGCATTTCCTGGGGAAGG	0.517000											OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			6		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240421273	240421273	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:240421273C>T	uc010pye.2	+	7	4331	c.4106C>T	c.(4105-4107)tCa>tTa	p.S1369L	FMN2_uc010pyd.2_Missense_Mutation_p.S1365L|FMN2_uc010pyf.1_Missense_Mutation_p.S11L|FMN2_uc010pyg.2_Intron	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1365	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AACAAAAGATCACAAGCAGTT	0.299000														35			21		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53994417	53994417	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:53994417C>T	uc002acj.2	-	11	1525	c.1483G>A	c.(1483-1485)Gat>Aat	p.D495N	WDR72_uc010bfi.1_Missense_Mutation_p.D495N	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	495										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTAAAGATATCCCACAAGATC	0.393000														25			41		0	0	1	0	0
FAM222A	84915	broad.mit.edu	37	12	110206464	110206464	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:110206464T>C	uc001tpd.2	+	2	1292	c.730T>C	c.(730-732)Tac>Cac	p.Y244H	FAM222A-AS1_uc010sxs.2_Intron|FAM222A-AS1_uc001tpe.3_Intron	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN	Homo sapiens chromosome 12 open reading frame 34 (C12orf34), mRNA.	244	Pro-rich.																CAGCATGGCCTACTCGGCTGC	0.716000														5			5		0	0	1	0	0
RSC1A1	6248	broad.mit.edu	37	1	15987431	15987431	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:15987431G>A	uc010obn.2	+	0	1068	c.1068G>A	c.(1066-1068)ttG>ttA	p.L356L	DDI2_uc001awx.2_3'UTR|RSC1A1_uc009voj.2_Silent_p.L356L	NM_006511	NP_006502	Q92681	RSCA1_HUMAN	Homo sapiens regulatory solute carrier protein, family 1, member 1 (RSC1A1), mRNA.	356					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	Golgi apparatus|cell junction|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCAGCCTTGAAAGAACTTC	0.428000														8			34		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54917207	54917207	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:54917207C>T	uc001sgc.4	+	18	1987	c.1908C>T	c.(1906-1908)atC>atT	p.I636I	NCKAP1L_uc010sox.2_Silent_p.I178I|NCKAP1L_uc010soy.2_Silent_p.I586I	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	636					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCACTACAATCAGCAAAGCCA	0.478000														143			89		0	0	1	0	0
BTNL2	56244	broad.mit.edu	37	6	32369581	32369581	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:32369581C>T	uc003obg.1	-	4	710	c.710_splice	c.e4-1	p.E237_splice	BTNL2_uc010jty.1_Splice_Site|BTNL2_uc010jtz.1_Splice_Site|BTNL2_uc010jua.1_Splice_Site_p.E27_splice	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	237	Ig-like V-type 3.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TCTGGAGTTTCTCTGGAAAAA	0.448000														26			14		0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34180931	34180931	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:34180931A>T	uc001mvl.2	-	13	3034	c.2609T>A	c.(2608-2610)tTc>tAc	p.F870Y		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	684							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TAGTGTCTTGAACCTGGAGCA	0.488000														43			17		0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2852659	2852659	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:2852659C>T	uc002lwo.3	+	3	734	c.596C>T	c.(595-597)cCc>cTc	p.P199L	ZNF555_uc002lwn.4_Missense_Mutation_p.P198L	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		GGAGAGAGACCCTATGTGTGT	0.463000														87			51		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76490157	76490157	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:76490157G>A	uc010dhp.2	-	40	6494	c.6369C>T	c.(6367-6369)tcC>tcT	p.S2123S	AK127460_uc002jvt.1_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											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)			CGATGAACACGGAGTGGCGGA	0.637000														29			13		0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49723382	49723382	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:49723382G>A	uc003cxg.3	-	9	1233	c.1161C>T	c.(1159-1161)ggC>ggT	p.G387G	MST1_uc011bcs.1_Missense_Mutation_p.A426V	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	373	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTCCCCTGCGCCGTGGTAGC	0.706000														14			5		0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2698150	2698150	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:2698150C>T	uc010ick.3	+	16	3065	c.3064C>T	c.(3064-3066)Ctg>Ttg	p.L1022L	FAM193A_uc003gfd.3_Silent_p.L822L|FAM193A_uc011bvm.2_Silent_p.L844L|FAM193A_uc011bvn.2_Silent_p.L822L|FAM193A_uc010icl.3_Silent_p.L822L|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Silent_p.L676L	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	822										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TCGCTTACGGCTGACCAAGAG	0.418000														54			18		0	0	1	0	0
THAP9	79725	broad.mit.edu	37	4	83839352	83839352	+	Missense_Mutation	SNP	A	G	G	rs140616270	byFrequency	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:83839352A>G	uc003hnt.2	+	4	2106	c.1987A>G	c.(1987-1989)Att>Gtt	p.I663V	THAP9_uc003hns.1_Missense_Mutation_p.I519V|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_Missense_Mutation_p.I380V	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	Homo sapiens THAP domain containing 9 (THAP9), mRNA.	663							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TGACATTTCAATTGCTCGAAG	0.398000														74			31		0	0	1	0	0
SLC23A1	9963	broad.mit.edu	37	5	138713172	138713172	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:138713172C>A	uc003leg.3	-	12	1577	c.1480G>T	c.(1480-1482)Gat>Tat	p.D494Y	SLC23A1_uc003leh.3_Missense_Mutation_p.D490Y	NM_152685	NP_689898	Q9UHI7	S23A1_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 1 (SLC23A1), transcript variant 2, mRNA.	490					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	L-ascorbate:sodium symporter activity|dehydroascorbic acid transporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	AGAATCTGATCCACTTCAAGA	0.527000														27			17		3.52763e-06	3.56441e-06	1	1	0
STAB2	55576	broad.mit.edu	37	12	104054126	104054126	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:104054126G>A	uc001tjw.3	+	15	1938	c.1752G>A	c.(1750-1752)ctG>ctA	p.L584L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	584	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.L583F(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGAAGCTTCTGGAACTCGTCA	0.433000														54			117		0	0	1	0	0
SNUPN	10073	broad.mit.edu	37	15	75902231	75902232	+	Splice_Site	DNP	CC	GT	GT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:75902231_75902232CC>GT	uc002ban.3	-	4	498	c.408_splice	c.e4+1	p.R136_splice	SNUPN_uc002bap.3_Splice_Site_p.R178_splice|SNUPN_uc002baq.3_Splice_Site_p.R136_splice|SNUPN_uc002bar.3_Splice_Site_p.R136_splice|SNUPN_uc002bas.3_Splice_Site_p.R136_splice	NM_005701	NP_005692	O95149	SPN1_HUMAN	Homo sapiens snurportin 1 (SNUPN), transcript variant 1, mRNA.	136	Necessary for interaction with XPO1.				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	RNA cap binding|protein transporter activity			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						AGCTACTCACCCTGGAGGCCAC	0.530000														21			7		0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61026747	61026747	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:61026747G>A	uc001nra.3	-	19	2547	c.2268C>T	c.(2266-2268)tcC>tcT	p.S756S	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	756						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTCCGTGAGGGGAGAGCCCCT	0.582000														50			27		0	0	1	0	0
LHFPL2	10184	broad.mit.edu	37	5	77784749	77784749	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:77784749C>T	uc003kfo.3	-	4	1334	c.658G>A	c.(658-660)Gag>Aag	p.E220K		NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 2 (LHFPL2), mRNA.	220						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		TTTTTCCCCTCTTCAATTTCT	0.433000														85			26		0	0	1	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62373917	62373917	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:62373917C>T	uc002ygq.3	+	5	964	c.909C>T	c.(907-909)gtC>gtT	p.V303V	SLC2A4RG_uc002ygr.3_Silent_p.V198V|SLC2A4RG_uc011abj.2_Silent_p.V198V|SLC2A4RG_uc002ygs.3_Silent_p.V105V	NM_020062	NP_064446	Q9NR83	S2A4R_HUMAN	Homo sapiens SLC2A4 regulator (SLC2A4RG), mRNA.	303						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					cgcccccTGTCCTGAGCACCG	0.726000														8			6		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043400	74043401	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:74043400_74043401CC>TT	uc002sjr.1	+	2	2171_2172	c.2050_2051CC>TT	c.(2050-2052)ccg>TTg	p.P684L		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	684								p.P684Q(1)|p.P654Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GGGTAAAGGCCCGGAGAAAATT	0.520000														59			33		0	0	1	0	0
NMRK1	54981	broad.mit.edu	37	9	77684849	77684849	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:77684849G>A	uc004ajr.4	-	4	524	c.279C>T	c.(277-279)ccC>ccT	p.P93P	NMRK1_uc004ajs.4_Silent_p.P97P|NMRK1_uc004ajt.4_Silent_p.P93P	NM_017881	NP_060351	Q9NWW6	NRK1_HUMAN	Homo sapiens chromosome 9 open reading frame 95 (C9orf95), transcript variant 1, mRNA.	93					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity										TGATTAAAATGGGAATTTCCT	0.398000														22			37		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584437	82584437	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:82584437C>T	uc003uhx.2	-	4	6121	c.5832G>A	c.(5830-5832)gaG>gaA	p.E1944E	PCLO_uc003uhv.2_Silent_p.E1944E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1875					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CATACAAAGGCTCTTTTTCAA	0.373000														51			21		0	0	1	0	0
ZNF498	221785	broad.mit.edu	37	7	99217284	99217285	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:99217284_99217285CC>TT	uc003url.1	+	3	382_383	c.55_56CC>TT	c.(55-57)cct>TTt	p.P19F	ZNF498_uc003urm.1_5'UTR|ZNF498_uc010lge.1_5'UTR|ZNF498_uc003urn.3_Non-coding_Transcript|ZNF498_uc010lgf.1_Missense_Mutation_p.P19F|ZNF498_uc003uro.1_5'Flank	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	Homo sapiens zinc finger protein 498 (ZNF498), mRNA.	19					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(1)	24	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GTTGGGTATTCCTGTGGTGAAA	0.540000														149			98		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75055760	75055760	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:75055760C>T	uc001dgg.3	-	11	1950	c.1731G>A	c.(1729-1731)atG>atA	p.M577I	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.M371I	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	577	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AAGCAGTTTTCATATCTACAA	0.353000														5			11		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153896809	153896810	+	Missense_Mutation	DNP	CC	TT	TT	rs138008286	byFrequency	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:153896809_153896810CC>TT	uc003inf.2	+	10	2441_2442	c.2366_2367CC>TT	c.(2365-2367)acc>aTT	p.T789I		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	789					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TCAGAGGGAACCGACTCCAGAC	0.609000														66			60		0	0	1	0	0
MON1A	84315	broad.mit.edu	37	3	49947863	49947863	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:49947863C>T	uc003cxz.3	-	3	1485	c.1359G>A	c.(1357-1359)tcG>tcA	p.S453S	MON1A_uc003cya.3_Silent_p.S291S|MON1A_uc003cyb.2_Silent_p.S291S	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	Homo sapiens MON1 homolog A (yeast) (MON1A), transcript variant 1, mRNA.	356							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CGCGAAAGGACGAGGAGGAAC	0.602000														39			21		0	0	1	0	0
C12orf10	60314	broad.mit.edu	37	12	53696850	53696850	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:53696850C>T	uc001scp.4	+	2	414	c.362C>T	c.(361-363)cCt>cTt	p.P121L	C12orf10_uc010sof.1_Missense_Mutation_p.P121L|C12orf10_uc009zmx.3_Missense_Mutation_p.P121L|C12orf10_uc001scq.4_Missense_Mutation_p.P6L	NM_021640	NP_067653	Q86UA3	Q86UA3_HUMAN	Homo sapiens chromosome 12 open reading frame 10 (C12orf10), mRNA.	121										cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						TCCCTGTCCCCTGGGAAGCCG	0.577000														134			79		0	0	1	0	0
ENTPD3	956	broad.mit.edu	37	3	40464385	40464385	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:40464385G>A	uc003ckd.4	+	7	968	c.876G>A	c.(874-876)cgG>cgA	p.R292R	ENTPD3_uc010hhy.3_Silent_p.R292R|ENTPD3-AS1_uc003cke.4_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	292						integral to membrane	ATP binding|hydrolase activity	p.R292Q(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GTTACCCTCGGGATTATAGCA	0.438000														42			25		0	0	1	0	0
C14orf93	60686	broad.mit.edu	37	14	23457125	23457125	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:23457125C>T	uc001wib.2	-	5	1494	c.1184G>A	c.(1183-1185)aGt>aAt	p.S395N	C14orf93_uc001wic.2_Missense_Mutation_p.S215N|C14orf93_uc001wig.3_Missense_Mutation_p.S395N|C14orf93_uc001wih.3_Missense_Mutation_p.S395N|C14orf93_uc001wie.3_Missense_Mutation_p.S395N|C14orf93_uc001wia.4_Missense_Mutation_p.S395N|C14orf93_uc001wif.3_Missense_Mutation_p.S215N	NM_021944	NP_068763	Q9H972	CN093_HUMAN	Homo sapiens chromosome 14 open reading frame 93 (C14orf93), transcript variant 1, mRNA.	395						extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		ATATCGGCGACTTCGAAGTTT	0.478000														62			50		0	0	1	0	0
SLC35C1	55343	broad.mit.edu	37	11	45827680	45827680	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:45827680G>A	uc001nbp.3	+	0	1040	c.328G>A	c.(328-330)Gac>Aac	p.D110N	SLC35C1_uc001nbo.3_Missense_Mutation_p.D97N|SLC35C1_uc010rgm.2_Missense_Mutation_p.D97N	NM_018389	NP_001138738	Q96A29	FUCT1_HUMAN	Homo sapiens solute carrier family 35, member C1 (SLC35C1), transcript variant 1, mRNA.	110						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		CTTGCGCCTGGACCTCAGGGT	0.632000														59			44		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101493406	101493406	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:101493406C>T	uc010svm.1	+	21	2629	c.2057C>T	c.(2056-2058)cCt>cTt	p.P686L	ANO4_uc001thw.2_Missense_Mutation_p.P651L|ANO4_uc001thx.2_Missense_Mutation_p.P686L|ANO4_uc001thy.2_Missense_Mutation_p.P206L	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	686						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAACATGGACCTGAAAGGAAA	0.363000										HNSCC(74;0.22)				10			31		0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74528124	74528124	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:74528124G>A	uc003php.3	+	30	4356	c.3925G>A	c.(3925-3927)Ggt>Agt	p.G1309S	CD109_uc003phq.3_Missense_Mutation_p.G1292S|CD109_uc010kba.3_Missense_Mutation_p.G1232S	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	1309						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCGGGCCCGGGTAGGAGTGG	0.413000														63			21		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169351662	169351662	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:169351662C>T	uc021xuh.1	-	11	1754	c.1644G>A	c.(1642-1644)gaG>gaA	p.E548E	DDX60L_uc003irq.4_Silent_p.E548E|DDX60L_uc003irr.1_Silent_p.E548E|DDX60L_uc003irs.1_Silent_p.E275E	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	548							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CACTGGAATCCTCCTTTGGCC	0.348000														24			8		0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201981790	201981790	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:201981790G>A	uc001gxg.4	+	3	3693	c.501G>A	c.(499-501)caG>caA	p.Q167Q	ELF3_uc001gxi.4_Silent_p.Q167Q|ELF3_uc001gxh.4_Silent_p.Q167Q	NM_004433	NP_004424	P78545	ELF3_HUMAN	Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.	167					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CCTTTGCCCAGGAGCTGCTGG	0.667000														64			38		0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642976	1642976	+	Silent	SNP	A	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:1642976A>G	uc009ycy.1	-	1	330	c.243T>C	c.(241-243)ggT>ggC	p.G81G	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	176	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.G116G(3)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGAACCCCCACAGG	0.662000														223			16		0	0	1	0	0
PRUNE	58497	broad.mit.edu	37	1	151006421	151006421	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:151006421C>T	uc001ewh.1	+	7	1209	c.1073C>T	c.(1072-1074)gCc>gTc	p.A358V	PRUNE_uc001ewi.1_Missense_Mutation_p.A176V|PRUNE_uc010pco.1_Missense_Mutation_p.A126V|PRUNE_uc001ewj.1_Missense_Mutation_p.A73V|PRUNE_uc001ewk.1_Missense_Mutation_p.A123V|BNIPL_uc009wmi.2_5'Flank|BNIPL_uc001ewl.2_5'Flank	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	Homo sapiens prune homolog (Drosophila) (PRUNE), mRNA.	358						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	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)			CTCCAGGAAGCCCTGTCAGCA	0.532000														123			75		0	0	1	0	0
HRASLS5	117245	broad.mit.edu	37	11	63233660	63233660	+	Silent	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:63233660G>A	uc001nwy.2	-	4	843	c.669C>T	c.(667-669)atC>atT	p.I223I	HRASLS5_uc001nwz.2_Silent_p.I213I|HRASLS5_uc010rmq.1_Silent_p.I223I|HRASLS5_uc009yos.2_Non-coding_Transcript	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.	223										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TGTACTGCACGATCTTGTTGA	0.517000														63			37		0	0	1	0	0
SPNS1	83985	broad.mit.edu	37	16	28986625	28986625	+	Silent	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:28986625C>T	uc010vdi.1	+	1	293	c.153C>T	c.(151-153)acC>acT	p.T51T	NPIPL1_uc010vct.2_Intron|SPNS1_uc002dry.2_Silent_p.T51T|SPNS1_uc002drx.2_5'UTR|SPNS1_uc002dsa.2_Silent_p.T51T|SPNS1_uc002drz.2_Silent_p.T51T|SPNS1_uc010byp.2_Silent_p.T51T	NM_001142448	NP_001135922	Q9H2V7	SPNS1_HUMAN	Homo sapiens spinster homolog 1 (Drosophila) (SPNS1), transcript variant 2, mRNA.	51					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						AGCGCATCACCGGCCTGTCTC	0.667000														4			4		0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36873814	36873814	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:36873814C>G	uc002hqi.4	+	10	1794	c.1781C>G	c.(1780-1782)tCc>tGc	p.S594C	MLLT6_uc002hqj.3_Missense_Mutation_p.S29C|MLLT6_uc002hqk.4_5'Flank|MIR4726_uc021twg.1_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA.	594					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CTCAGCCGCTCCCCGTTCACC	0.682000			T	MLL	AL									35			35		0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111857905	111857905	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:111857905G>A	uc001eas.3	+	5	485	c.328G>A	c.(328-330)Gtt>Att	p.V110I	CHIA_uc001ear.3_Missense_Mutation_p.V2I|CHIA_uc001eaq.3_Missense_Mutation_p.V2I|CHIA_uc009wgc.3_Missense_Mutation_p.V2I|CHIA_uc001eat.3_Intron|CHIA_uc001eav.3_5'UTR|CHIA_uc001eau.3_Intron|CHIA_uc009wgd.3_Intron	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	110					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CACTGCCATGGTTTCTACTCC	0.517000														145			108		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227945200	227945200	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:227945200G>A	uc021vxr.1	-	22	1863	c.1762C>T	c.(1762-1764)Cgg>Tgg	p.R588W	COL4A4_uc021vxs.1_Missense_Mutation_p.R588W	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	588	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGTCCATCCCGACCATGTGAT	0.453000														95			53		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25265186	25265187	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:25265186_25265187CC>TT	uc010aaa.3	+	7	1217_1218	c.884_885CC>TT	c.(883-885)gcc>gTT	p.A295V	ATP12A_uc001upp.3_Missense_Mutation_p.A289V	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	289					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GCCTCATTGGCCTCAGGAGTTG	0.515000														70			134		0	0	1	0	0
YTHDF2	51441	broad.mit.edu	37	1	29069261	29069261	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:29069261T>A	uc021okf.1	+	4	742	c.479T>A	c.(478-480)tTa>tAa	p.L160*	YTHDF2_uc001brc.3_Nonsense_Mutation_p.L160*|YTHDF2_uc010ofx.2_Nonsense_Mutation_p.L110*|YTHDF2_uc001bre.3_Nonsense_Mutation_p.L110*	NM_001173128	NP_001166299	Q9Y5A9	YTHD2_HUMAN	Homo sapiens YTH domain family, member 2 (YTHDF2), transcript variant 2, mRNA.	160					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CCTAGCTCCTTAGGTGGAGCC	0.468000														26			53		0	0	1	0	0
RPP25L	138716	broad.mit.edu	37	9	34610831	34610832	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:34610831_34610832GG>AA	uc022bgh.1	-	0	462_463	c.462_463CC>TT	c.(460-465)tcccga>tcTTga	p.R155*	RPP25L_uc003zuu.3_Nonsense_Mutation_p.R155*|RPP25L_uc003zuv.3_Nonsense_Mutation_p.R155*	NM_148179	NP_680545	Q8N5L8	CI023_HUMAN	Homo sapiens chromosome 9 open reading frame 23 (C9orf23), transcript variant 2, mRNA.	155							nucleic acid binding										GCCCTTCTTCGGGAACGAGGGC	0.629000														72			66		0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344286	56344286	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:56344286C>T	uc001niz.1	-	0	912	c.912G>A	c.(910-912)atG>atA	p.M304I	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TTCCCCTAATCATTTGTTGTA	0.373000														173			103		0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95057149	95057149	+	Silent	SNP	C	A	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:95057149C>A	uc001ydm.2	+	4	1164	c.954C>A	c.(952-954)ctC>ctA	p.L318L	SERPINA3_uc001ydo.4_5'Flank	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	318					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	AGAAAGTCCTCCCCAGTCTGG	0.517000														32			26		3.01185e-09	3.05483e-09	1	1	0
GCC1	79571	broad.mit.edu	37	7	127222361	127222362	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:127222361_127222362CC>TT	uc003vma.3	-	1	2452_2453	c.2034_2035GG>AA	c.(2032-2037)gaggtc>gaAAtc	p.V679I		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	679						Golgi membrane|plasma membrane	protein binding	p.V679I(2)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGCACCTCGACCTCCAGCCTGT	0.584000														60			38		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	-	-			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:29295647_29295649delTCC	uc002rmt.2	-	0	1479_1481	c.1479_1481delGGA	c.(1477-1482)gaggaa>gaa	p.493_494EE>E		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	493					response to stimulus|visual perception	photoreceptor outer segment		p.E492K(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542													---	264	---	---	7	---					
C2orf82	389084	broad.mit.edu	37	2	233740763	233740763	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:233740763delC	uc002vtr.1	+	1	245	c.187delC	c.(187-189)cccfs	p.P63fs		NM_206895	NP_996778	Q6UX34	CB082_HUMAN	Homo sapiens chromosome 2 open reading frame 82 (C2orf82), mRNA.	63						integral to membrane											GGACACCGGTCCCCCAGCCCC	0.781													---	4	---	---	2	---					
RAD54L2	23132	broad.mit.edu	37	3	51661637	51661637	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:51661637delC	uc011bdt.2	+	2	333	c.208delC	c.(208-210)cggfs	p.R70fs	RAD54L2_uc003dbh.3_5'UTR|RAD54L2_uc011bdu.2_5'Flank|RAD54L2_uc003dbj.3_5'Flank	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	70						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCAGCCGCCGCGGTGCACTTC	0.547													---	6	---	---	4	---					
LRRC33	375387	broad.mit.edu	37	3	196388426	196388426	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:196388426delC	uc003fwv.3	+	2	2016	c.1912delC	c.(1912-1914)cctfs	p.P638fs		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	638						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CGGAGGTGTGCCTCGGGACTG	0.672													---	70	---	---	62	---					
DOPEY1	23033	broad.mit.edu	37	6	83832631	83832633	+	In_Frame_Del	DEL	CTT	-	-			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:83832631_83832633delCTT	uc011dyy.2	+	11	1503_1505	c.1243_1245delCTT	c.(1243-1245)cttdel	p.L416del	DOPEY1_uc003pjs.1_In_Frame_Del_p.L425del|DOPEY1_uc010kbl.1_In_Frame_Del_p.L416del	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	425					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AACTGCTAACCTTCTCTTTAATT	0.281													---	3	---	---	6	---					
ADCK1	57143	broad.mit.edu	37	14	78399663	78399679	+	Frame_Shift_Del	DEL	CGTGTGAAGGGGTTGAA	-	-	rs143349230		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:78399663_78399679delCGTGTGAAGGGGTTGAA	uc001xui.3	+	10	1600_1616	c.1501_1517delCGTGTGAAGGGGTTGAA	c.(1501-1518)cgtgtgaaggggttgaagfs	p.R501fs	ADCK1_uc001xuj.3_Frame_Shift_Del_p.R433fs|ADCK1_uc001xul.3_Frame_Shift_Del_p.R208fs	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	508						extracellular region	ATP binding|protein serine/threonine kinase activity	p.G436G(1)|p.G504G(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GCTCATCCTGCGTGTGAAGGGGTTGAAGCTGGCTGAC	0.525													---	98	---	---	19	---					
ZNF181	339318	broad.mit.edu	37	19	35232496	35232496	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:35232496delC	uc002nvu.3	+	3	1673	c.1210delC	c.(1210-1212)caafs	p.Q404fs	ZNF181_uc010xsb.1_Frame_Shift_Del_p.Q403fs|ZNF181_uc010xsc.1_Frame_Shift_Del_p.Q339fs	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.	404					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)			TATGGAGAAACAATATGAATG	0.383													---	67	---	---	32	---					
PRICKLE3	4007	broad.mit.edu	37	X	49036095	49036095	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:49036095delC	uc004dmy.1	-	3	399	c.373delG	c.(373-375)gagfs	p.E125fs	PRICKLE3_uc011mmv.1_Frame_Shift_Del_p.E57fs|PRICKLE3_uc011mmw.1_Intron|PRICKLE3_uc011mmx.1_Intron|PRICKLE3_uc011mmy.1_Intron	NM_006150	NP_006141	O43900	PRIC3_HUMAN	Homo sapiens prickle homolog 3 (Drosophila) (PRICKLE3), mRNA.	125	PET.						protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CTGTATTTCTCCCCAGGACTG	0.542													---	4	---	---	2	---					
AMMECR1	9949	broad.mit.edu	37	X	109561058	109561060	+	In_Frame_Del	DEL	CCG	-	-			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:109561058_109561060delCCG	uc004eoo.3	-	0	321_323	c.240_242delCGG	c.(238-243)ggcggg>ggg	p.80_81GG>G	AMMECR1_uc004eop.3_In_Frame_Del_p.80_81GG>G|AMMECR1_uc004eoq.3_5'UTR	NM_015365	NP_001165160	Q9Y4X0	AMER1_HUMAN	Homo sapiens Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 (AMMECR1), transcript variant 1, mRNA.	80	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGCGATCCCCCCGCCGCCGCCGC	0.734													---	4	---	---	2	---