Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MIIP	60672	broad.mit.edu	37	1	12082418	12082418	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:12082418C>A	ENST00000235332.4	+	3	550	c.381C>A	c.(379-381)ccC>ccA	p.P127P	MIIP_ENST00000436478.2_Silent_p.P127P|MIIP_ENST00000466860.1_3'UTR	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	127										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						ACCCAGAGCCCTCAGGGAGGC	0.657													4	72	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12422900	12422900	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:12422900G>T	ENST00000358136.3	+	51	10396	c.10266G>T	c.(10264-10266)agG>agT	p.R3422S	VPS13D_ENST00000356315.4_Missense_Mutation_p.R3397S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3421					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AATTTGCCAGGGGACAGGTGA	0.433													9	433	---	---	---	---
PADI3	51702	broad.mit.edu	37	1	17609504	17609504	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:17609504G>T	ENST00000375460.3	+	16	1965	c.1925G>T	c.(1924-1926)gGg>gTg	p.G642V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	642					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ATGCTGCATGGGGAGGTGCAC	0.597													4	138	---	---	---	---
CAPZB	832	broad.mit.edu	37	1	19712116	19712116	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:19712116G>T	ENST00000264203.3	-	4	669	c.176C>A	c.(175-177)cCc>cAc	p.P59H	CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000375144.1_Missense_Mutation_p.P21H|CAPZB_ENST00000264202.6_Missense_Mutation_p.P33H|CAPZB_ENST00000401084.2_Missense_Mutation_p.P33H|CAPZB_ENST00000375142.1_Missense_Mutation_p.P33H|CAPZB_ENST00000433834.1_Missense_Mutation_p.P62H	NM_001206541.2	NP_001193470.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	33					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		ACATAGACTGGGGACCTGGCA	0.473													4	87	---	---	---	---
PLA2G2A	5320	broad.mit.edu	37	1	20304968	20304968	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:20304968C>G	ENST00000375111.3	-	4	361	c.90G>C	c.(88-90)aaG>aaC	p.K30N	PLA2G2A_ENST00000400520.3_Missense_Mutation_p.K30N|PLA2G2A_ENST00000496748.1_5'UTR	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	30					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	p.K30N(1)		central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTCGTCAACTTGATCATTC	0.557													12	61	---	---	---	---
FGR	2268	broad.mit.edu	37	1	27942065	27942065	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:27942065G>T	ENST00000374005.3	-	9	1186	c.898C>A	c.(898-900)Ccg>Acg	p.P300T	FGR_ENST00000545953.1_Missense_Mutation_p.P234T|FGR_ENST00000374004.1_Missense_Mutation_p.P300T|FGR_ENST00000399173.1_Missense_Mutation_p.P300T	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	300	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AAGGCCTTCGGGGACATGGTG	0.647													5	95	---	---	---	---
TRIM62	55223	broad.mit.edu	37	1	33612958	33612958	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:33612958C>A	ENST00000291416.5	-	5	1481	c.1248G>T	c.(1246-1248)gtG>gtT	p.V416V	TRIM62_ENST00000543586.1_Silent_p.V295V	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	416	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GGAAGACACCCACCTTGTCAA	0.572													5	118	---	---	---	---
SPATA6	54558	broad.mit.edu	37	1	48865161	48865161	+	Silent	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:48865161T>C	ENST00000371847.3	-	7	806	c.642A>G	c.(640-642)aaA>aaG	p.K214K	SPATA6_ENST00000371843.3_Silent_p.K214K|SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_Silent_p.K142K	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	214					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		p.K214K(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GAGAGTGTGATTTTGAAGAAA	0.413													9	505	---	---	---	---
GTF2B	2959	broad.mit.edu	37	1	89325644	89325644	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:89325644C>A	ENST00000370500.5	-	5	574	c.456G>T	c.(454-456)aaG>aaT	p.K152N	GTF2B_ENST00000494819.1_5'UTR	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	152					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		TAGCTCTTCCCTTCAGGCTCT	0.358													6	367	---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94508397	94508397	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:94508397A>G	ENST00000370225.3	-	22	3334	c.3248T>C	c.(3247-3249)gTg>gCg	p.V1083A		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1083	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.V1083A(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTCCAGAATCACCACCTTGGC	0.567													9	144	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103385906	103385906	+	Silent	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:103385906G>T	ENST00000358392.2	-	49	4076	c.3759C>A	c.(3757-3759)ccC>ccA	p.P1253P	COL11A1_ENST00000512756.1_Silent_p.P1125P|COL11A1_ENST00000370096.3_Silent_p.P1241P|COL11A1_ENST00000353414.4_Silent_p.P1202P	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1241	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGACCCTGGGGGTCCTTGTG	0.353													7	405	---	---	---	---
HIPK1	204851	broad.mit.edu	37	1	114510461	114510461	+	Silent	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:114510461T>C	ENST00000369558.1	+	12	2687	c.2455T>C	c.(2455-2457)Ttg>Ctg	p.L819L	HIPK1_ENST00000406344.1_Silent_p.L425L|HIPK1_ENST00000369561.4_Silent_p.L785L|HIPK1_ENST00000369554.2_Silent_p.L774L|HIPK1_ENST00000369555.2_Silent_p.L774L|HIPK1_ENST00000369559.4_Silent_p.L819L|HIPK1_ENST00000369553.1_Silent_p.L425L|HIPK1_ENST00000340480.4_Silent_p.L445L|HIPK1_ENST00000426820.2_Silent_p.L819L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.L819L(3)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATGTGACATTGGCCACTGC	0.488													7	210	---	---	---	---
THBS3	7059	broad.mit.edu	37	1	155174919	155174919	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:155174919G>T	ENST00000368378.3	-	3	495	c.475C>A	c.(475-477)Ccc>Acc	p.P159T	THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000457183.2_Intron|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	159	TSP N-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGAGGAATGGGGGCCAGTGCT	0.602													4	81	---	---	---	---
FCRL4	83417	broad.mit.edu	37	1	157558993	157558993	+	Splice_Site	SNP	C	C	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:157558993C>G	ENST00000271532.1	-	3	443		c.e3+1		FCRL4_ENST00000448509.2_Splice_Site	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4							integral to membrane|plasma membrane	receptor activity	p.?(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TTCTTTCTCACCTGAAGAAAA	0.493													18	146	---	---	---	---
NIT1	4817	broad.mit.edu	37	1	161088966	161088966	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:161088966C>A	ENST00000368008.1	+	3	200	c.141C>A	c.(139-141)ccC>ccA	p.P47P	NIT1_ENST00000368009.2_Silent_p.P47P|NIT1_ENST00000392190.5_Silent_p.P11P|NIT1_ENST00000368007.4_Silent_p.P32P|NIT1_ENST00000496861.1_3'UTR	NM_001185092.1	NP_001172021.1	Q86X76	NIT1_HUMAN	nitrilase 1	47	CN hydrolase.				nitrogen compound metabolic process	mitochondrion	nitrilase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCGAACTGCCCCTGGTGGCTG	0.532													5	185	---	---	---	---
KIF21B	23046	broad.mit.edu	37	1	200978472	200978472	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:200978472C>A	ENST00000332129.2	-	2	502	c.186G>T	c.(184-186)caG>caT	p.Q62H	KIF21B_ENST00000422435.2_Missense_Mutation_p.Q62H|KIF21B_ENST00000461742.2_Missense_Mutation_p.Q62H|KIF21B_ENST00000360529.5_Missense_Mutation_p.Q62H	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	62	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.Q62H(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGGAATAGATCTGTTCTTGCC	0.572													11	99	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203693090	203693090	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:203693090G>T	ENST00000357681.5	+	19	4229	c.3106G>T	c.(3106-3108)Ggg>Tgg	p.G1036W	ATP2B4_ENST00000391954.2_Intron|ATP2B4_ENST00000341360.2_Missense_Mutation_p.G1036W|ATP2B4_ENST00000466407.1_3'UTR|ATP2B4_ENST00000367219.3_Missense_Mutation_p.G1024W|ATP2B4_ENST00000367218.3_Missense_Mutation_p.G1036W	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1036					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCTCTTCATTGGGATTGGAGA	0.522													4	112	---	---	---	---
NVL	4931	broad.mit.edu	37	1	224495815	224495815	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:224495815G>T	ENST00000281701.6	-	6	752	c.493C>A	c.(493-495)Cct>Act	p.P165T	NVL_ENST00000391875.2_Missense_Mutation_p.P59T|NVL_ENST00000482491.1_Intron|NVL_ENST00000340871.4_Intron|NVL_ENST00000469075.1_Intron|NVL_ENST00000361463.3_Missense_Mutation_p.P59T	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	165						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TCTTTGGCAGGGGTCTTCAAG	0.418													6	323	---	---	---	---
DDX1	1653	broad.mit.edu	37	2	15753347	15753347	+	Splice_Site	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:15753347G>T	ENST00000381341.2	+	15	1345		c.e15-1		DDX1_ENST00000233084.3_Splice_Site			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1						DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		ATTTATTTCAGGGAGCTTCTG	0.313													4	101	---	---	---	---
PRKD3	23683	broad.mit.edu	37	2	37543436	37543436	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:37543436G>T	ENST00000379066.1	-	2	994	c.232C>A	c.(232-234)Cag>Aag	p.Q78K	PRKD3_ENST00000234179.2_Missense_Mutation_p.Q78K			O94806	KPCD3_HUMAN	protein kinase D3	78					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GACAGTTCCTGGGCTTCAATG	0.423													6	321	---	---	---	---
MTA3	57504	broad.mit.edu	37	2	42871298	42871298	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:42871298C>A	ENST00000405592.1	+	7	915	c.245C>A	c.(244-246)cCc>cAc	p.P82H	MTA3_ENST00000407270.3_Missense_Mutation_p.P138H|MTA3_ENST00000405094.1_Missense_Mutation_p.P138H|MTA3_ENST00000406911.1_Missense_Mutation_p.P138H|MTA3_ENST00000406652.1_Missense_Mutation_p.P82H	NM_001282755.1	NP_001269684.1	Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	138	BAH.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						GTCTATGACCCCTCATTGAAA	0.348													4	116	---	---	---	---
MSH6	2956	broad.mit.edu	37	2	48027255	48027255	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:48027255C>A	ENST00000234420.5	+	4	2285	c.2133C>A	c.(2131-2133)ccC>ccA	p.P711P	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.P581P|MSH6_ENST00000538136.1_Silent_p.P409P	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATATATTCCCTTGGATTCTG	0.408			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				6	364	---	---	---	---
CCT4	10575	broad.mit.edu	37	2	62104186	62104186	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:62104186C>A	ENST00000394440.3	-	7	942	c.646G>T	c.(646-648)Ggg>Tgg	p.G216W	CCT4_ENST00000544079.1_Splice_Site_p.G186W|CCT4_ENST00000538252.1_Splice_Site_p.G160W|CCT4_ENST00000544185.1_Splice_Site_p.G66W|AC107081.5_ENST00000425779.1_RNA	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	216					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			TCAATTGTCCCACTAAGGATA	0.393													5	197	---	---	---	---
BOLA3	388962	broad.mit.edu	37	2	74362730	74362730	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:74362730G>T	ENST00000327428.5	-	4	433	c.314C>A	c.(313-315)cCc>cAc	p.P105H	BOLA3_ENST00000295326.4_Silent_p.P75P	NM_212552.2	NP_997717.2	Q53S33	BOLA3_HUMAN	bolA family member 3	105						extracellular region				large_intestine(1)|lung(1)	2						TCAGCGTTTGGGGACAGAGGT	0.418													7	256	---	---	---	---
PKP4	8502	broad.mit.edu	37	2	159499082	159499082	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:159499082C>A	ENST00000389757.3	+	11	1905	c.1780C>A	c.(1780-1782)Ctt>Att	p.L594I	PKP4_ENST00000389759.3_Missense_Mutation_p.L594I	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	594					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TTGTGGTGCCCTTCGAAACCT	0.413										HNSCC(62;0.18)			5	222	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099282	168099282	+	Silent	SNP	T	T	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:168099282T>G	ENST00000409195.1	+	9	1469	c.1380T>G	c.(1378-1380)ctT>ctG	p.L460L	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L238L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L460L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	285					actin cytoskeleton organization	cell junction	actin binding	p.L460L(1)		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						CTGACGTACTTCAAACTTCAG	0.448													24	188	---	---	---	---
PPIG	9360	broad.mit.edu	37	2	170493832	170493832	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:170493832C>A	ENST00000260970.3	+	14	2284	c.2064C>A	c.(2062-2064)ccC>ccA	p.P688P	PPIG_ENST00000448752.2_Silent_p.P688P|PPIG_ENST00000409714.3_Silent_p.P673P	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	688					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ATCAAAGTCCCTTCTCAAAAA	0.348													4	146	---	---	---	---
CRYGB	1419	broad.mit.edu	37	2	209007467	209007467	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:209007467C>A	ENST00000260988.4	-	3	470	c.423G>T	c.(421-423)agG>agT	p.R141S		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	141	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		ACTGCCTCCCCCTGTAGTTGG	0.532													6	312	---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230657838	230657838	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:230657838T>C	ENST00000283943.5	-	26	3945	c.3767A>G	c.(3766-3768)cAg>cGg	p.Q1256R	TRIP12_ENST00000389045.3_Missense_Mutation_p.Q986R|TRIP12_ENST00000389044.4_Missense_Mutation_p.Q1304R	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1256					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	p.Q1256R(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTTTAAAGCCTGTGATCCTCT	0.328													16	119	---	---	---	---
SP110	3431	broad.mit.edu	37	2	231050859	231050859	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:231050859C>A	ENST00000258381.6	-	11	1207	c.1130G>T	c.(1129-1131)gGg>gTg	p.G377V	SP110_ENST00000392048.3_Splice_Site_p.G375V|SP110_ENST00000358662.4_Splice_Site_p.G377V|SP110_ENST00000258382.5_Splice_Site_p.G377V|SP110_ENST00000338556.3_Splice_Site_p.G79V|SP110_ENST00000540870.1_Splice_Site_p.G383V	NM_080424.2	NP_536349	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	377					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TGAGGCTGCCCCTGGACCAAA	0.483													4	127	---	---	---	---
NEU4	129807	broad.mit.edu	37	2	242755700	242755700	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:242755700C>A	ENST00000391969.2	+	3	730	c.19C>A	c.(19-21)Cct>Act	p.P7T	NEU4_ENST00000325935.6_Missense_Mutation_p.P20T|NEU4_ENST00000404257.1_Missense_Mutation_p.P19T|NEU4_ENST00000405370.1_Missense_Mutation_p.P7T|NEU4_ENST00000407683.1_Missense_Mutation_p.P7T	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	7						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		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;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-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;0.0825)		CCCTCGTACCCCTTCACGGAC	0.687													4	64	---	---	---	---
OXSM	54995	broad.mit.edu	37	3	25833004	25833004	+	Silent	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:25833004T>C	ENST00000280701.3	+	2	592	c.493T>C	c.(493-495)Ttg>Ctg	p.L165L	OXSM_ENST00000420173.2_Silent_p.L165L|OXSM_ENST00000449808.1_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	165					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	p.L165L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TGAAACTGCTTTGAATTTTCA	0.423													29	268	---	---	---	---
LRRFIP2	9209	broad.mit.edu	37	3	37125219	37125219	+	Silent	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:37125219A>G	ENST00000421307.1	-	20	1608	c.1186T>C	c.(1186-1188)Ttg>Ctg	p.L396L	LRRFIP2_ENST00000336686.4_Silent_p.L396L|LRRFIP2_ENST00000440230.1_Silent_p.L164L|LRRFIP2_ENST00000421276.2_Silent_p.L164L|LRRFIP2_ENST00000396428.2_Silent_p.L212L|LRRFIP2_ENST00000354379.4_Silent_p.L140L	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	396					Wnt receptor signaling pathway		LRR domain binding	p.L396L(1)|p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TGGTAGATCAAATTGTTCTTC	0.353													58	207	---	---	---	---
GRM2	2912	broad.mit.edu	37	3	51750047	51750047	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:51750047C>A	ENST00000395052.3	+	4	2492	c.2258C>A	c.(2257-2259)cCc>cAc	p.P753H	GRM2_ENST00000442933.2_Missense_Mutation_p.P475H|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	753					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)	CGCAAGTGCCCCGAAAACTTC	0.547													4	118	---	---	---	---
CRYBG3	131544	broad.mit.edu	37	3	97652652	97652652	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:97652652C>A	ENST00000182096.4	+	15	2576	c.2512C>A	c.(2512-2514)Cag>Aag	p.Q838K	CRYBG3_ENST00000485253.1_3'UTR|CRYBG3_ENST00000389622.2_Missense_Mutation_p.Q45K	NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						CTTCTACACCCAGTCTGTGTG	0.453													5	182	---	---	---	---
SLC12A8	84561	broad.mit.edu	37	3	124810946	124810946	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:124810946C>A	ENST00000423114.2	-	11	1888	c.1889G>T	c.(1888-1890)gGg>gTg	p.G630V	SLC12A8_ENST00000469902.1_Splice_Site_p.G601V|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000430155.2_Splice_Site_p.G402V|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000393469.4_Splice_Site_p.G601V			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	601					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GTTACTCACCCCCAACAGGGA	0.493													5	117	---	---	---	---
IFT80	57560	broad.mit.edu	37	3	160037613	160037613	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:160037613C>T	ENST00000326448.7	-	9	1324	c.892G>A	c.(892-894)Gtg>Atg	p.V298M	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.V469M|IFT80_ENST00000496589.1_Missense_Mutation_p.V161M|IFT80_ENST00000483465.1_Missense_Mutation_p.V161M	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	298						cilium axoneme|microtubule basal body		p.V298M(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGTTCCACCACATGTGCAAAA	0.398													8	219	---	---	---	---
SEL1L3	23231	broad.mit.edu	37	4	25849008	25849008	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:25849008G>T	ENST00000399878.3	-	2	763	c.641C>A	c.(640-642)cCt>cAt	p.P214H	SEL1L3_ENST00000502949.1_Missense_Mutation_p.P61H|SEL1L3_ENST00000264868.5_Missense_Mutation_p.P179H|SEL1L3_ENST00000513364.1_Intron	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	214						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATCTTTGAAAGGGCGTTCAAA	0.463													5	139	---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36130284	36130284	+	Silent	SNP	T	T	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:36130284T>G	ENST00000303965.4	-	21	4000	c.3511A>C	c.(3511-3513)Aga>Cga	p.R1171R		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1171	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.R1171R(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTAAAGCTTCTTGCATCCTTT	0.358													11	175	---	---	---	---
MRPL1	65008	broad.mit.edu	37	4	78784032	78784032	+	Splice_Site	SNP	A	A	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:78784032A>C	ENST00000315567.8	+	1	359	c.30A>C	c.(28-30)agA>agC	p.R10S		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	10							RNA binding	p.R10S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						GCATGGGTAGAGGTAAGGCGA	0.537													6	169	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114279714	114279714	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:114279714C>A	ENST00000357077.4	+	38	9993	c.9940C>A	c.(9940-9942)Cca>Aca	p.P3314T	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P3281T|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3281					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACTTCCACCCCAGCACCTCC	0.428													8	305	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073378	134073378	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:134073378G>T	ENST00000264360.5	+	1	2909	c.2083G>T	c.(2083-2085)Ggg>Tgg	p.G695W		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		cggaggcggaggGTCAGGAGA	0.697													4	79	---	---	---	---
RAPGEF2	9693	broad.mit.edu	37	4	160275188	160275188	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:160275188G>T	ENST00000264431.4	+	22	4577	c.4158G>T	c.(4156-4158)aaG>aaT	p.K1386N		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1386					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GTACTACAAAGGGGCTCATTG	0.423													4	61	---	---	---	---
KLHL2	11275	broad.mit.edu	37	4	166243184	166243184	+	Splice_Site	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:166243184G>T	ENST00000226725.6	+	15	2013	c.1754G>T	c.(1753-1755)gGg>gTg	p.G585V	KLHL2_ENST00000538127.1_Splice_Site_p.G497V|KLHL2_ENST00000421009.2_Splice_Site_p.G488V|KLHL2_ENST00000514860.1_Splice_Site_p.G589V|KLHL2_ENST00000506761.1_Splice_Site_p.G419V|KLHL2_ENST00000509028.1_3'UTR	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	585					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		CTTTGCTCAGGGGTCACAGTT	0.378													5	301	---	---	---	---
ING2	3622	broad.mit.edu	37	4	184431718	184431718	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:184431718C>A	ENST00000302327.3	+	2	658	c.456C>A	c.(454-456)ccC>ccA	p.P152P	ING2_ENST00000434682.2_Silent_p.P112P	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	152					chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CAAGAAGACCCCGCAGGCAGC	0.458													4	94	---	---	---	---
KLKB1	3818	broad.mit.edu	37	4	187175748	187175748	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:187175748C>A	ENST00000264690.6	+	12	1507	c.1320C>A	c.(1318-1320)ccC>ccA	p.P440P	KLKB1_ENST00000513864.1_Silent_p.P440P	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	440	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CTAGGCTTCCCCTGCAGGATG	0.373													6	291	---	---	---	---
BRD9	65980	broad.mit.edu	37	5	884166	884166	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:884166C>A	ENST00000323510.4	-	5	564	c.565G>T	c.(565-567)Ggg>Tgg	p.G189W	BRD9_ENST00000435709.2_Missense_Mutation_p.G169W|BRD9_ENST00000467963.1_Missense_Mutation_p.G285W|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000483173.1_Missense_Mutation_p.G232W|BRD9_ENST00000388890.4_Missense_Mutation_p.G169W			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	285	Bromo.						nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CAGGCATTCCCTTCAGGCTCA	0.627													4	111	---	---	---	---
FAM105B	90268	broad.mit.edu	37	5	14687628	14687628	+	Splice_Site	SNP	A	A	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:14687628A>T	ENST00000284274.4	+	5	546		c.e5-1			NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B											breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					TCGATGTTGTAGTTACCAGAA	0.348													5	192	---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38412623	38412623	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:38412623G>T	ENST00000322350.5	+	11	1713	c.1367G>T	c.(1366-1368)gGg>gTg	p.G456V	EGFLAM_ENST00000336740.6_Missense_Mutation_p.G222V|EGFLAM_ENST00000397202.2_5'UTR|EGFLAM_ENST00000354891.3_Missense_Mutation_p.G456V	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	456	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGTGGAACTGGGGTTGCCATC	0.478													4	124	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82817528	82817528	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:82817528G>T	ENST00000265077.3	+	7	3968	c.3403G>T	c.(3403-3405)Ggg>Tgg	p.G1135W	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.G1087W|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.G1135W	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1135	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTTAAGTCCAGGGCCTGAACA	0.408													5	173	---	---	---	---
RHOBTB3	22836	broad.mit.edu	37	5	95067626	95067626	+	Silent	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:95067626G>T	ENST00000379982.3	+	2	574	c.66G>T	c.(64-66)tcG>tcT	p.S22S	RHOBTB3_ENST00000515852.1_3'UTR|CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000506817.1_Silent_p.S22S	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	22	Rho-like.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		ACCGGCCGTCGGGGCTTATCC	0.657													3	62	---	---	---	---
APC	324	broad.mit.edu	37	5	112154851	112154851	+	Silent	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:112154851G>T	ENST00000457016.1	+	10	1502	c.1122G>T	c.(1120-1122)cgG>cgT	p.R374R	APC_ENST00000508376.2_Silent_p.R374R|APC_ENST00000257430.4_Silent_p.R374R			P25054	APC_HUMAN	adenomatous polyposis coli	374	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAAATTCCCGGGGCAGTAAAG	0.512		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			4	101	---	---	---	---
HARS	3035	broad.mit.edu	37	5	140056698	140056698	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:140056698C>A	ENST00000504366.1	-	8	2439	c.620G>T	c.(619-621)gGg>gTg	p.G207V	HARS_ENST00000438307.2_Missense_Mutation_p.G236V|HARS_ENST00000431330.2_Missense_Mutation_p.G162V|HARS_ENST00000457527.2_Missense_Mutation_p.G256V|HARS_ENST00000504156.1_Missense_Mutation_p.G276V|HARS_ENST00000307633.3_Missense_Mutation_p.G216V|HARS_ENST00000448240.1_Missense_Mutation_p.G81V|HARS_ENST00000415192.2_Missense_Mutation_p.G202V			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	276					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CAGGGATACCCCACCTGGGGA	0.532													7	465	---	---	---	---
ADRB2	154	broad.mit.edu	37	5	148207351	148207351	+	Silent	SNP	T	T	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:148207351T>G	ENST00000305988.4	+	1	1196	c.957T>G	c.(955-957)tcT>tcG	p.S319S		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	319					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	p.S319S(1)		endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	ATGTCAATTCTGGTTTCAATC	0.478													15	142	---	---	---	---
AFAP1L1	134265	broad.mit.edu	37	5	148691735	148691735	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:148691735C>A	ENST00000296721.4	+	9	1086	c.988C>A	c.(988-990)Cca>Aca	p.P330T	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.P330T	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	330							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCAGATCCCCAGTCCTCCT	0.597													6	259	---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154181820	154181820	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:154181820C>A	ENST00000336314.4	+	11	1763	c.1739C>A	c.(1738-1740)cCa>cAa	p.P580Q		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	657							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGCCGGCACCCAGGGGGGGAC	0.547													6	196	---	---	---	---
HAVCR1	26762	broad.mit.edu	37	5	156479438	156479438	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:156479438G>A	ENST00000339252.3	-	3	1139	c.607C>T	c.(607-609)Cca>Tca	p.P203S	HAVCR1_ENST00000544197.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000522693.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000523175.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.P203S	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	198	Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity	p.P203S(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGTCACTGGAACACTTGTT	0.468													67	448	---	---	---	---
LCP2	3937	broad.mit.edu	37	5	169677742	169677742	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:169677742C>A	ENST00000046794.5	-	20	2086	c.1471G>T	c.(1471-1473)Ggg>Tgg	p.G491W	C5orf58_ENST00000517575.1_Intron|LCP2_ENST00000521416.1_Missense_Mutation_p.G286W	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	491	SH2.				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		ACCTCTTTCCCTCGGAGTCCA	0.413													4	159	---	---	---	---
SH3PXD2B	285590	broad.mit.edu	37	5	171821588	171821588	+	Silent	SNP	T	T	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:171821588T>G	ENST00000311601.5	-	4	458	c.288A>C	c.(286-288)atA>atC	p.I96I	SH3PXD2B_ENST00000519643.1_Silent_p.I96I	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	96	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	p.I96I(1)		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)			CATCAATTGGTATCAGGCGTT	0.468													9	67	---	---	---	---
TRIM38	10475	broad.mit.edu	37	6	25983518	25983518	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:25983518C>A	ENST00000357085.3	+	8	1477	c.1001C>A	c.(1000-1002)cCc>cAc	p.P334H	TRIM38_ENST00000349458.3_Missense_Mutation_p.P334H	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	334	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						ACTGCCTTCCCCTGTGTCTTG	0.478													6	200	---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30670419	30670419	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:30670419G>T	ENST00000376406.3	-	14	6660	c.6013C>A	c.(6013-6015)Cct>Act	p.P2005T	MDC1_ENST00000376405.2_Missense_Mutation_p.P1741T	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	2005	BRCT 2.|Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGGACTCCAGGGGTCACATAG	0.493								Other conserved DNA damage response genes					6	276	---	---	---	---
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31727926	31727926	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:31727926G>T	ENST00000493662.2	+	19	1852	c.1796G>T	c.(1795-1797)gGg>gTg	p.G599V	MSH5_ENST00000375750.3_Missense_Mutation_p.G582V|MSH5_ENST00000375742.3_Missense_Mutation_p.G599V|MSH5_ENST00000375740.3_Missense_Mutation_p.G599V|MSH5_ENST00000395853.1_Missense_Mutation_p.G256V|MSH5_ENST00000375703.3_Missense_Mutation_p.G582V|MSH5_ENST00000431848.2_Missense_Mutation_p.G281V|MSH5_ENST00000534153.4_Missense_Mutation_p.G599V|MSH5_ENST00000375755.3_Missense_Mutation_p.G582V																							GAATGTGGTGGGGACAAAGGG	0.567													5	259	---	---	---	---
WDR46	9277	broad.mit.edu	37	6	33256001	33256001	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:33256001C>A	ENST00000374617.4	-	5	841	c.485G>T	c.(484-486)gGg>gTg	p.G162V	WDR46_ENST00000477718.1_5'UTR	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	162										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CCCATCCTCCCCTTCCAGAAA	0.488													8	614	---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159635999	159635999	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:159635999C>A	ENST00000297267.9	+	5	683	c.483C>A	c.(481-483)ccC>ccA	p.P161P	FNDC1_ENST00000340366.6_Silent_p.P161P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	161	Fibronectin type-III 2.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCAACAAGCCCTTGCGTGTGC	0.537													4	63	---	---	---	---
SFT2D1	113402	broad.mit.edu	37	6	166733745	166733745	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:166733745C>A	ENST00000361731.3	-	8	550		c.e8-1		SFT2D1_ENST00000487841.1_Splice_Site	NM_145169.1	NP_660152.1	Q8WV19	SFT2A_HUMAN	SFT2 domain containing 1						protein transport|vesicle-mediated transport	integral to membrane				NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1)	6		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)		AACTGCATCCCTGGTGGAAAA	0.353													4	109	---	---	---	---
CALCR	799	broad.mit.edu	37	7	93065363	93065363	+	Silent	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr7:93065363G>T	ENST00000359558.2	-	14	1451	c.1152C>A	c.(1150-1152)ccC>ccA	p.P384P	CALCR_ENST00000360249.4_Silent_p.P366P|CALCR_ENST00000421592.1_Silent_p.P366P|CALCR_ENST00000426151.1_Silent_p.P350P|CALCR_ENST00000394441.1_Silent_p.P350P	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	366					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TTCCCAGCAGGGGCACAAGGA	0.498													4	103	---	---	---	---
MOSPD3	64598	broad.mit.edu	37	7	100210593	100210593	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr7:100210593C>A	ENST00000393950.2	+	1	461	c.179C>A	c.(178-180)cCc>cAc	p.P60H	MOSPD3_ENST00000424091.2_Missense_Mutation_p.P60H|MOSPD3_ENST00000223054.4_Missense_Mutation_p.P60H|MOSPD3_ENST00000379527.2_Missense_Mutation_p.P60H	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	60	MSP.					integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTCTATAACCCCACAGGAACT	0.647													6	262	---	---	---	---
C7orf60	154743	broad.mit.edu	37	7	112555390	112555390	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr7:112555390C>A	ENST00000297145.4	-	2	438	c.273G>T	c.(271-273)gaG>gaT	p.E91D	C7orf60_ENST00000485446.1_5'UTR	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	91										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GACCTTCGCCCTCACAAGTTT	0.348													5	232	---	---	---	---
LRGUK	136332	broad.mit.edu	37	7	133859312	133859312	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr7:133859312C>T	ENST00000285928.2	+	8	1013	c.944C>T	c.(943-945)gCt>gTt	p.A315V		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	315							ATP binding|kinase activity	p.A315V(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GAACAGATTGCTGAGCTGAGA	0.313													6	185	---	---	---	---
RCL1	10171	broad.mit.edu	37	9	4841318	4841318	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:4841318A>G	ENST00000381750.4	+	6	894	c.671A>G	c.(670-672)tAt>tGt	p.Y224C	RCL1_ENST00000381730.1_Missense_Mutation_p.Y38C|RCL1_ENST00000381728.1_Missense_Mutation_p.Y38C|RCL1_ENST00000448872.2_Missense_Mutation_p.Y38C	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	224					ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		CCTGATATCTATATTTACACA	0.438													4	287	---	---	---	---
KDM4C	23081	broad.mit.edu	37	9	7103863	7103863	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:7103863C>A	ENST00000381309.3	+	18	3168	c.2603C>A	c.(2602-2604)cCc>cAc	p.P868H	KDM4C_ENST00000536108.1_3'UTR|KDM4C_ENST00000428870.2_Missense_Mutation_p.P555H|KDM4C_ENST00000442236.2_Missense_Mutation_p.P613H|KDM4C_ENST00000381306.3_Missense_Mutation_p.P868H	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	868					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid 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(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AAGGTCAACCCCAACGTGGTA	0.483													4	121	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8460552	8460552	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:8460552G>T	ENST00000381196.4	-	30	4277	c.3734C>A	c.(3733-3735)cCt>cAt	p.P1245H	PTPRD_ENST00000397606.3_Missense_Mutation_p.P824H|PTPRD_ENST00000537002.1_Missense_Mutation_p.P831H|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1245H|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1245H|PTPRD_ENST00000486161.1_Missense_Mutation_p.P834H|PTPRD_ENST00000397617.3_Missense_Mutation_p.P824H|PTPRD_ENST00000397611.3_Missense_Mutation_p.P831H|PTPRD_ENST00000355233.5_Missense_Mutation_p.P834H|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1223H|PTPRD_ENST00000360074.4_Missense_Mutation_p.P1232H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1245					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTCGGAGTAAGGGCTGGTTGC	0.433										TSP Lung(15;0.13)			4	143	---	---	---	---
NDUFB6	4712	broad.mit.edu	37	9	32573053	32573053	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:32573053C>A	ENST00000379847.3	-	1	107	c.6G>T	c.(4-6)acG>acT	p.T2T	NDUFB6_ENST00000350021.2_Silent_p.T2T	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	2					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)	NADH(DB00157)	GAGTGTACCCCGTCATGTCGC	0.627											OREG0019131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	40	---	---	---	---
GBA2	57704	broad.mit.edu	37	9	35748483	35748483	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:35748483C>A	ENST00000378094.4	-	1	732	c.219G>T	c.(217-219)gaG>gaT	p.E73D	GBA2_ENST00000378103.3_Missense_Mutation_p.E73D|GBA2_ENST00000545786.1_Missense_Mutation_p.E73D			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	73					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAGCTTTACCCTCATAGGAAA	0.532													6	385	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90501022	90501022	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:90501022C>A	ENST00000325643.5	+	4	1686	c.1620C>A	c.(1618-1620)ccC>ccA	p.P540P		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CTTCTCCACCCCAGATTAGGG	0.607													6	260	---	---	---	---
OR2K2	26248	broad.mit.edu	37	9	114089857	114089857	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:114089857G>T	ENST00000374428.1	-	1	943	c.944C>A	c.(943-945)cCc>cAc	p.P315H	OR2K2_ENST00000302681.1_Missense_Mutation_p.P286H			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GTAAATTATGGGGTTCAACAT	0.388													5	224	---	---	---	---
ADAMTS13	11093	broad.mit.edu	37	9	136313725	136313725	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:136313725A>C	ENST00000371929.3	+	22	3181	c.2737A>C	c.(2737-2739)Atg>Ctg	p.M913L	ADAMTS13_ENST00000355699.2_Missense_Mutation_p.M913L|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.M882L|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	913	TSP type-1 5.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	p.M913L(2)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CGCAGGTCTGATGGAGCTGCG	0.632													8	345	---	---	---	---
UAP1L1	91373	broad.mit.edu	37	9	139975242	139975242	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:139975242T>A	ENST00000409858.3	+	7	1312	c.1280T>A	c.(1279-1281)cTg>cAg	p.L427Q	UAP1L1_ENST00000360271.3_Missense_Mutation_p.L304Q	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1-like 1	427							nucleotidyltransferase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CGCCAGGCCCTGCTCACCCAG	0.677													4	92	---	---	---	---
FAM208B	54906	broad.mit.edu	37	10	5772512	5772512	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr10:5772512C>A	ENST00000328090.5	+	11	1175	c.550C>A	c.(550-552)Ctt>Att	p.L184I	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	184																	TTTATCTACCCTTAATTGTGC	0.353													6	204	---	---	---	---
FAM208B	54906	broad.mit.edu	37	10	5782210	5782210	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr10:5782210G>T	ENST00000328090.5	+	13	2702	c.2077G>T	c.(2077-2079)Ggg>Tgg	p.G693W	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	693																	AACCCCAGTGGGGAAAGTCAT	0.537													6	280	---	---	---	---
SGPL1	8879	broad.mit.edu	37	10	72629558	72629558	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr10:72629558C>A	ENST00000373202.3	+	9	914	c.714C>A	c.(712-714)ccC>ccA	p.P238P		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	238					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	GTGTGGCTCCCCAAAGTGCCC	0.448													4	132	---	---	---	---
FAM196A	642938	broad.mit.edu	37	10	128973760	128973760	+	Silent	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr10:128973760G>T	ENST00000522781.1	-	4	1455	c.900C>A	c.(898-900)ccC>ccA	p.P300P	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.P300P	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	300										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAGTTTCCGAGGGCGCCTGGA	0.667													4	135	---	---	---	---
RAG1	5896	broad.mit.edu	37	11	36596905	36596905	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:36596905C>A	ENST00000299440.5	+	2	2163	c.2051C>A	c.(2050-2052)gCc>gAc	p.A684D		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	684					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GAGAGGGAGGCCATGAAGAGC	0.512									Familial Hemophagocytic Lymphohistiocytosis				4	85	---	---	---	---
MAP6	4135	broad.mit.edu	37	11	75298701	75298701	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:75298701C>A	ENST00000304771.3	-	4	2595	c.1845G>T	c.(1843-1845)aaG>aaT	p.K615N	MAP6_ENST00000526740.1_Missense_Mutation_p.K286N|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	615	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GACCTTCACCCTTGACAGGTG	0.542													7	377	---	---	---	---
NPAT	4863	broad.mit.edu	37	11	108047756	108047756	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:108047756G>T	ENST00000278612.8	-	11	1073	c.968C>A	c.(967-969)cCa>cAa	p.P323Q	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	323	Mediates transcriptional activation.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		CTGAAATGCTGGGTCTGATTC	0.388													4	154	---	---	---	---
GRIK4	2900	broad.mit.edu	37	11	120833172	120833172	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:120833172G>A	ENST00000527524.2	+	18	2335	c.2048G>A	c.(2047-2049)cGc>cAc	p.R683H	GRIK4_ENST00000438375.2_Missense_Mutation_p.R683H	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	683					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R683H(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CAGAATTCCCGCTACCAGACC	0.483													5	42	---	---	---	---
HSPA8	3312	broad.mit.edu	37	11	122929117	122929117	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:122929117C>A	ENST00000534624.1	-	8	1874	c.1598G>T	c.(1597-1599)aGg>aTg	p.R533M	HSPA8_ENST00000526110.1_Missense_Mutation_p.R514M|HSPA8_ENST00000532636.1_Missense_Mutation_p.R533M|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.R533M|HSPA8_ENST00000533540.1_Missense_Mutation_p.R387M|HSPA8_ENST00000534319.1_Missense_Mutation_p.R297M	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	533					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CACCTTGTCCCTCTGCTTCTC	0.423													5	323	---	---	---	---
B3GAT1	27087	broad.mit.edu	37	11	134253748	134253748	+	Silent	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:134253748G>T	ENST00000524765.1	-	3	4991	c.447C>A	c.(445-447)ccC>ccA	p.P149P	B3GAT1_ENST00000312527.4_Silent_p.P149P|B3GAT1_ENST00000392580.1_Silent_p.P149P|B3GAT1_ENST00000537389.1_Silent_p.P162P			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	149					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		TGTAGTTGCGGGGCGTCTCCA	0.731													3	16	---	---	---	---
MYL6	4637	broad.mit.edu	37	12	56554423	56554423	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:56554423T>A	ENST00000550697.1	+	6	682	c.441T>A	c.(439-441)caT>caA	p.H147Q	MYL6_ENST00000548400.1_Missense_Mutation_p.H111Q|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000348108.4_Missense_Mutation_p.H148Q|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548293.1_Missense_Mutation_p.H147Q	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	147	EF-hand 3.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle	p.H147Q(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			TTGTGAGGCATATCCTGTCGG	0.547													14	351	---	---	---	---
MYL6	4637	broad.mit.edu	37	12	56554425	56554425	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:56554425T>G	ENST00000550697.1	+	6	684	c.443T>G	c.(442-444)aTc>aGc	p.I148S	MYL6_ENST00000548400.1_Missense_Mutation_p.I112S|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000348108.4_Missense_Mutation_p.I149S|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548293.1_Missense_Mutation_p.I148S	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	148	EF-hand 3.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle	p.I148S(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GTGAGGCATATCCTGTCGGGG	0.547													14	342	---	---	---	---
DPY19L2	283417	broad.mit.edu	37	12	63976243	63976243	+	Silent	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:63976243T>C	ENST00000324472.4	-	18	1851	c.1668A>G	c.(1666-1668)ctA>ctG	p.L556L	DPY19L2_ENST00000413230.2_Silent_p.L3L	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	556					multicellular organismal development|spermatid development	integral to membrane		p.L556L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAAACATCTTTAGCCTCATAA	0.343													23	82	---	---	---	---
UBC	7316	broad.mit.edu	37	12	125397269	125397269	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:125397269G>A	ENST00000536769.1	-	1	2625	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	UBC_ENST00000339647.5_Missense_Mutation_p.A350V|UBC_ENST00000546120.1_Missense_Mutation_p.A274V|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	350	Ubiquitin-like 5.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTGTTTTCCGGCAAAGATCAA	0.522													7	475	---	---	---	---
MIPEP	4285	broad.mit.edu	37	13	24455845	24455845	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr13:24455845C>A	ENST00000382172.3	-	3	543	c.445G>T	c.(445-447)Gta>Tta	p.V149L	MIPEP_ENST00000469167.1_5'UTR	NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	149					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	p.V149L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TACTTCTCTACCATGGTGCCA	0.502													11	115	---	---	---	---
SPG20	23111	broad.mit.edu	37	13	36886567	36886567	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr13:36886567G>A	ENST00000451493.1	-	7	1748	c.1531C>T	c.(1531-1533)Cca>Tca	p.P511S	SPG20_ENST00000355182.4_Missense_Mutation_p.P511S|SPG20_ENST00000438666.2_Missense_Mutation_p.P511S|SPG20_ENST00000494062.2_Missense_Mutation_p.P511S	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	511					cell death	cytoplasm	ubiquitin protein ligase binding	p.P511S(1)		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)		TTGACATGTGGAGCTAGTTCT	0.368													42	283	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	108518237	108518237	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr13:108518237C>A	ENST00000375915.2	-	1	846	c.708G>T	c.(706-708)tcG>tcT	p.S236S		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	236						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TGGACAACCCCGAGAACAACT	0.537													5	240	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20846388	20846388	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:20846388C>A	ENST00000262715.5	-	39	5556	c.5516G>T	c.(5515-5517)gGg>gTg	p.G1839V	TEP1_ENST00000556935.1_Missense_Mutation_p.G1731V|TEP1_ENST00000545983.1_Missense_Mutation_p.G177V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1839					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCCGGGTGCCCCCAGGTCCTA	0.592													5	95	---	---	---	---
L3HYPDH	112849	broad.mit.edu	37	14	59942588	59942588	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:59942588C>A	ENST00000247194.4	-	4	1051	c.938G>T	c.(937-939)aGg>aTg	p.R313M	L3HYPDH_ENST00000487285.1_Splice_Site_p.R142M	NM_144581.1	NP_653182.1			L-3-hydroxyproline dehydratase (trans-)																		GCCACTTACCCTCACAGCTTT	0.453													5	274	---	---	---	---
FUT8	2530	broad.mit.edu	37	14	66208945	66208945	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:66208945C>A	ENST00000360689.5	+	11	3272	c.1545C>A	c.(1543-1545)ccC>ccA	p.P515P	FUT8_ENST00000394585.1_Silent_p.P515P|FUT8_ENST00000394586.2_Silent_p.P515P|FUT8_ENST00000358307.2_Silent_p.P386P|FUT8_ENST00000417683.1_Silent_p.P109P|FUT8_ENST00000557164.1_Silent_p.P352P	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	515	SH3.				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CTCACCAACCCCGAACTGCAG	0.438													6	271	---	---	---	---
CDC42BPB	9578	broad.mit.edu	37	14	103442220	103442220	+	Splice_Site	SNP	C	C	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:103442220C>G	ENST00000361246.2	-	10	1675	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	463					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	p.E463Q(2)		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)		CTGCCCTCACCTTGCAGCTTC	0.662													13	154	---	---	---	---
SLC12A6	9990	broad.mit.edu	37	15	34531251	34531251	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr15:34531251C>A	ENST00000354181.3	-	20	3039	c.2547G>T	c.(2545-2547)ggG>ggT	p.G849G	SLC12A6_ENST00000397702.2_Silent_p.G790G|SLC12A6_ENST00000397707.2_Silent_p.G834G|SLC12A6_ENST00000290209.5_Silent_p.G798G|SLC12A6_ENST00000558589.1_Silent_p.G840G|SLC12A6_ENST00000560164.1_Silent_p.G661G|SLC12A6_ENST00000458406.2_Silent_p.G790G|SLC12A6_ENST00000558667.1_Silent_p.G849G|SLC12A6_ENST00000560611.1_Silent_p.G849G|SLC12A6_ENST00000451844.2_Silent_p.G661G			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	849					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCTTCATGCCCCCAAGGCCAC	0.542													9	465	---	---	---	---
CHP1	11261	broad.mit.edu	37	15	41523608	41523608	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr15:41523608C>T	ENST00000334660.5	+	1	268	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	CHP1_ENST00000560397.1_Missense_Mutation_p.R10W|CHP1_ENST00000558351.1_Intron	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	10					potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity	p.R10W(1)									CACGTTACTGCGGGACGAAGA	0.677													3	7	---	---	---	---
CGNL1	84952	broad.mit.edu	37	15	57730877	57730877	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr15:57730877C>A	ENST00000281282.5	+	2	758	c.680C>A	c.(679-681)cCc>cAc	p.P227H		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	227	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ATAGAGGACCCCAAAAAGCAG	0.557													5	297	---	---	---	---
TICRR	90381	broad.mit.edu	37	15	90129088	90129088	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr15:90129088C>A	ENST00000268138.7	+	4	1431	c.1326C>A	c.(1324-1326)ccC>ccA	p.P442P	TICRR_ENST00000560985.1_Silent_p.P441P|RP11-429B14.1_ENST00000559041.1_RNA					TOPBP1-interacting checkpoint and replication regulator																		CTGACAGCCCCCGGGACACAG	0.493													6	232	---	---	---	---
ZNF778	197320	broad.mit.edu	37	16	89294346	89294346	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr16:89294346G>T	ENST00000433976.2	+	6	1898	c.1566G>T	c.(1564-1566)gaG>gaT	p.E522D	ZNF778_ENST00000306502.6_Missense_Mutation_p.E480D|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E522D(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TACTGAATGAGCATGTGAAAA	0.458													7	108	---	---	---	---
ZNF276	92822	broad.mit.edu	37	16	89789105	89789105	+	Silent	SNP	T	T	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr16:89789105T>A	ENST00000289816.5	+	2	459	c.147T>A	c.(145-147)gcT>gcA	p.A49A	ZNF276_ENST00000568064.1_Silent_p.A49A|ZNF276_ENST00000443381.2_Silent_p.A124A|ZNF276_ENST00000446326.2_5'UTR	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTGGTGTGGCTGTCCGCCAGG	0.637													4	106	---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7754485	7754485	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:7754485C>A	ENST00000254846.5	+	14	4209	c.3820C>A	c.(3820-3822)Cac>Aac	p.H1274N	KDM6B_ENST00000448097.2_Missense_Mutation_p.H1274N	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1274					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTCCCGTTCCCACACCACCAT	0.602													4	112	---	---	---	---
COX10	1352	broad.mit.edu	37	17	14110351	14110351	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:14110351G>T	ENST00000261643.3	+	7	1230	c.1153G>T	c.(1153-1155)Gcc>Tcc	p.A385S	COX10_ENST00000537334.1_Missense_Mutation_p.A168S|COX10_ENST00000536205.1_Missense_Mutation_p.A193S	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	385					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CCCCATCATGGCCCTTCCCAT	0.647													5	194	---	---	---	---
CPD	1362	broad.mit.edu	37	17	28770867	28770867	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:28770867G>T	ENST00000225719.4	+	11	2497	c.2421G>T	c.(2419-2421)agG>agT	p.R807S	CPD_ENST00000543464.2_Missense_Mutation_p.R560S	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	807	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CAGATGGCAGGGGTATATTAA	0.403													7	460	---	---	---	---
TBC1D29	26083	broad.mit.edu	37	17	28886736	28886736	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:28886736G>T	ENST00000580161.1	+	2	2501	c.4G>T	c.(4-6)Ggg>Tgg	p.G2W	TBC1D29_ENST00000579181.1_Missense_Mutation_p.G2W|TBC1D29_ENST00000584297.1_Missense_Mutation_p.G2W			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	2	Rab-GAP TBC; truncated.					intracellular	Rab GTPase activator activity			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				CAAGACCATGGGGCATCTGGT	0.627													5	258	---	---	---	---
KRT14	3861	broad.mit.edu	37	17	39741238	39741238	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:39741238G>C	ENST00000167586.6	-	2	683	c.597C>G	c.(595-597)gaC>gaG	p.D199E		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	199	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.D199E(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TGGTGCGGAAGTCATCCGCGG	0.502													4	96	---	---	---	---
ROCK1	6093	broad.mit.edu	37	18	18586746	18586746	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr18:18586746T>A	ENST00000399799.2	-	15	2492	c.1552A>T	c.(1552-1554)Aca>Tca	p.T518S		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1		Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.T518S(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCTTTAATGTAGAAACTAGA	0.308													6	280	---	---	---	---
ZNF516	9658	broad.mit.edu	37	18	74091047	74091047	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr18:74091047T>A	ENST00000443185.2	-	4	3340	c.3023A>T	c.(3022-3024)cAg>cTg	p.Q1008L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1008					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q1008L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCTCAGCTCCTGGGCTGCCTT	0.706													25	29	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10291243	10291243	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:10291243C>A	ENST00000340748.4	-	4	463	c.228G>T	c.(226-228)gaG>gaT	p.E76D	DNMT1_ENST00000540357.1_Missense_Mutation_p.E76D|DNMT1_ENST00000359526.4_Missense_Mutation_p.E76D			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	76	Interaction with DMAP1.|Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCAGGTAGCCCTCCTACAGCA	0.408													5	198	---	---	---	---
SIN3B	23309	broad.mit.edu	37	19	16952650	16952650	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:16952650C>A	ENST00000379803.1	+	4	467	c.453C>A	c.(451-453)ccC>ccA	p.P151P	SIN3B_ENST00000248054.5_Silent_p.P151P|SIN3B_ENST00000596802.1_Silent_p.P151P	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	151					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	p.P151P(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGGACAAACCCCAGGTGCCCC	0.517													4	149	---	---	---	---
ZBTB32	27033	broad.mit.edu	37	19	36207474	36207474	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:36207474C>A	ENST00000392197.2	+	7	1602	c.1284C>A	c.(1282-1284)taC>taA	p.Y428*	ZBTB32_ENST00000262630.3_Nonsense_Mutation_p.Y428*			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	428					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGCTCCGTACCGCTGCTCCC	0.682											OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	118	---	---	---	---
APLP1	333	broad.mit.edu	37	19	36360602	36360602	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:36360602G>T	ENST00000221891.4	+	2	373	c.181G>T	c.(181-183)Ggg>Tgg	p.G61W	APLP1_ENST00000537454.2_Missense_Mutation_p.G22W|APLP1_ENST00000586861.1_Missense_Mutation_p.G55W	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	61					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGACTATGCGGGCGCCTAAC	0.687													3	34	---	---	---	---
LRFN3	79414	broad.mit.edu	37	19	36431059	36431059	+	Silent	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:36431059G>A	ENST00000588831.1	+	3	1786	c.732G>A	c.(730-732)ctG>ctA	p.L244L	LRFN3_ENST00000246529.3_Silent_p.L244L			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	244					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCTGGTGCTGGCCTTTGGCG	0.721													3	42	---	---	---	---
TMEM145	284339	broad.mit.edu	37	19	42819344	42819344	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:42819344C>A	ENST00000598766.1	+	7	582	c.582C>A	c.(580-582)atC>atA	p.I194I	TMEM145_ENST00000301204.3_Silent_p.I170I			Q8NBT3	TM145_HUMAN	transmembrane protein 145	170						integral to membrane		p.I170I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CGGCAGGGATCCTGGAGACAG	0.532													5	129	---	---	---	---
PRKD2	25865	broad.mit.edu	37	19	47195016	47195016	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:47195016C>A	ENST00000433867.1	-	13	2155	c.1678G>T	c.(1678-1680)Ggg>Tgg	p.G560W	PRKD2_ENST00000595515.1_Missense_Mutation_p.G560W|PRKD2_ENST00000600194.1_Missense_Mutation_p.G403W|PRKD2_ENST00000601806.1_Missense_Mutation_p.G403W|PRKD2_ENST00000291281.4_Missense_Mutation_p.G560W	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	560	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CCAAACTGCCCTGAGCCCAGC	0.582													4	133	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51191309	51191309	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:51191309C>A	ENST00000293441.1	-	17	2197	c.2179G>T	c.(2179-2181)Ggg>Tgg	p.G727W	SHANK1_ENST00000359082.3_Missense_Mutation_p.G718W|SHANK1_ENST00000391814.1_Missense_Mutation_p.G727W|SHANK1_ENST00000391813.1_Missense_Mutation_p.G114W	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	727	PDZ.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACATTCTGCCCGTTCACCTGT	0.617													4	157	---	---	---	---
ZFP28	140612	broad.mit.edu	37	19	57059269	57059269	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:57059269C>A	ENST00000301318.3	+	4	592	c.521C>A	c.(520-522)cCa>cAa	p.P174Q	ZFP28_ENST00000591844.1_Missense_Mutation_p.P174Q|AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	174	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GCCTGGTGCCCAGGTGAGTGT	0.512													4	119	---	---	---	---
ZSCAN22	342945	broad.mit.edu	37	19	58850175	58850175	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:58850175G>T	ENST00000329665.4	+	3	1106	c.959G>T	c.(958-960)gGg>gTg	p.G320V		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	320					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GTCCACACAGGGGCGAAGCCC	0.567													5	244	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40044151	40044151	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr20:40044151G>T	ENST00000373233.3	-	34	6791	c.6614C>A	c.(6613-6615)cCt>cAt	p.P2205H		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2205					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAGGATGATAGGGGTGTGCCC	0.597													4	68	---	---	---	---
IGLV2-23	28813	broad.mit.edu	37	22	23040734	23040734	+	RNA	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:23040734C>A	ENST00000390306.2	+	0	344																											CAACAGCACCCAGGCAAAGCC	0.552													8	444	---	---	---	---
DEPDC5	9681	broad.mit.edu	37	22	32229973	32229973	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:32229973G>A	ENST00000536766.1	+	22	2030	c.1859G>A	c.(1858-1860)aGg>aAg	p.R620K	DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000266091.3_Intron|DEPDC5_ENST00000400249.2_Intron|DEPDC5_ENST00000382111.2_Intron|DEPDC5_ENST00000382112.3_Intron|DEPDC5_ENST00000400246.1_Intron|DEPDC5_ENST00000400248.2_Intron			O75140	DEPD5_HUMAN	DEP domain containing 5	0					intracellular signal transduction			p.?(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCAAGTAAGAGGGGGCAGCTG	0.502													23	452	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36701115	36701115	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:36701115C>A	ENST00000216181.5	-	18	2423	c.2193G>T	c.(2191-2193)aaG>aaT	p.K731N		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	731	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCATGAAACCCTTGGGAATGG	0.547			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				4	146	---	---	---	---
MFNG	4242	broad.mit.edu	37	22	37875495	37875495	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:37875495C>A	ENST00000356998.3	-	4	672	c.449G>T	c.(448-450)aGg>aTg	p.R150M	MFNG_ENST00000416983.3_Missense_Mutation_p.R136M	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	150					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					CAGCAGCGCCCTTGGGTTCAC	0.617													4	80	---	---	---	---
XRCC6	2547	broad.mit.edu	37	22	42052956	42052956	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:42052956C>A	ENST00000359308.4	+	9	1996	c.1341C>A	c.(1339-1341)ccC>ccA	p.P447P	XRCC6_ENST00000402580.3_Silent_p.P406P|XRCC6_ENST00000405506.1_Silent_p.P397P|XRCC6_ENST00000405878.1_Silent_p.P447P|XRCC6_ENST00000360079.3_Silent_p.P447P|XRCC6_ENST00000428575.2_Silent_p.P314P			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	447	Ku.				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GGAAGATGCCCTTTACTGAAA	0.423								Non-homologous end-joining					4	148	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610895	42610895	+	Silent	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:42610895A>G	ENST00000359486.3	-	1	553	c.417T>C	c.(415-417)ttT>ttC	p.F139F	TCF20_ENST00000335626.4_Silent_p.F139F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.F139F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGTGCTTGAAACTGGCCCA	0.577													56	162	---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39914706	39914706	+	Silent	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrX:39914706A>G	ENST00000342274.4	-	12	4916	c.4554T>C	c.(4552-4554)taT>taC	p.Y1518Y	BCOR_ENST00000378444.4_Silent_p.Y1552Y|BCOR_ENST00000378463.1_Silent_p.Y395Y|BCOR_ENST00000397354.3_Silent_p.Y1518Y|BCOR_ENST00000378455.4_Silent_p.Y1500Y	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1552					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.Y1518Y(2)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTCAGCACCATAAGAGAGAA	0.453			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						8	83	---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99662671	99662671	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrX:99662671C>A	ENST00000373034.4	-	1	2600	c.925G>T	c.(925-927)Ggg>Tgg	p.G309W	PCDH19_ENST00000255531.7_Missense_Mutation_p.G309W|PCDH19_ENST00000420881.2_Missense_Mutation_p.G309W	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	309	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TACACGTGCCCCTCTTCGTAG	0.587													4	62	---	---	---	---
IGSF1	3547	broad.mit.edu	37	X	130407832	130407832	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrX:130407832G>T	ENST00000370904.1	-	26	4832	c.3922C>A	c.(3922-3924)Cct>Act	p.P1308T	IGSF1_ENST00000370903.3_Missense_Mutation_p.P1322T|IGSF1_ENST00000361420.3_Missense_Mutation_p.P1317T|IGSF1_ENST00000370910.1_Missense_Mutation_p.P1308T			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1317					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GAATTGGCAGGGGTGCCTGGT	0.463													5	189	---	---	---	---
MT-ND4	4538	broad.mit.edu	37	M	10869	10869	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrM:10869T>C	ENST00000361381.2	+	1	110	c.110T>C	c.(109-111)aTc>aCc	p.I37T						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						TATTAGCATCATCCCCCTACT	0.398													2	3	---	---	---	---
CCNYL1	151195	broad.mit.edu	37	2	208618360	208618362	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:208618360_208618362delAGA	ENST00000295414.3	+	10	1229_1231	c.1018_1020delAGA	c.(1018-1020)agadel	p.R341del	CCNYL1_ENST00000468768.1_3'UTR|CCNYL1_ENST00000339882.5_In_Frame_Del_p.R290del|CCNYL1_ENST00000392209.3_In_Frame_Del_p.R271del			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	341					regulation of cyclin-dependent protein kinase activity		protein kinase binding			endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		AGCCGCTATGAGAAGGTCTTTCA	0.404													72	356	---	---	---	---
UBA6	55236	broad.mit.edu	37	4	68529609	68529610	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:68529609_68529610insT	ENST00000322244.5	-	11	1012_1013	c.953_954insA	c.(952-954)aacfs	p.N318fs	UBA6_ENST00000420827.2_Frame_Shift_Ins_p.N318fs	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6						protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TTACCTCAGGGTTGCTAAAATC	0.386													8	279	---	---	---	---
SURF4	6836	broad.mit.edu	37	9	136231748	136231748	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:136231748delT	ENST00000371989.3	-	5	640	c.511delA	c.(511-513)accfs	p.T171fs	SURF4_ENST00000545297.1_Intron|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000371991.3_Frame_Shift_Del_p.T171fs|SURF4_ENST00000485435.2_Intron	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	171						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		TGAAGGAGGGTCATGAACATC	0.562													12	69	---	---	---	---
SLITRK4	139065	broad.mit.edu	37	X	142717743	142717743	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrX:142717743delT	ENST00000381779.4	-	2	1407	c.1182delA	c.(1180-1182)gtafs	p.V394fs	SLITRK4_ENST00000338017.4_Frame_Shift_Del_p.V394fs|SLITRK4_ENST00000356928.1_Frame_Shift_Del_p.V394fs	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	394						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGTCTGATACGTCCACAT	0.393													110	164	---	---	---	---
