Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ARID4A	5926	broad.mit.edu	37	14	58838607	58838607	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:58838607C>A	ENST00000355431.3	+	24	4047	c.3674C>A	c.(3673-3675)tCt>tAt	p.S1225Y	ARID4A_ENST00000431317.2_Missense_Mutation_p.S1156Y|RP11-517O13.3_ENST00000556390.1_RNA|ARID4A_ENST00000395168.3_Missense_Mutation_p.S1171Y|ARID4A_ENST00000348476.3_Missense_Mutation_p.S1156Y	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1225					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCCACAGTGTCTCATGCGGGA	0.403000													5	40					0.014758	0.0147945	1	1	0
ZNF8	7554	broad.mit.edu	37	19	58806859	58806859	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:58806859C>T	ENST00000196548.5	+	4	1816	c.1685C>T	c.(1684-1686)tCt>tTt	p.S562F	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GAAGAGCCTTCTGTGGGTGCT	0.443000													18	90					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222805641	222805641	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:222805641C>T	ENST00000344922.5	+	5	3329	c.3304C>T	c.(3304-3306)Cca>Tca	p.P1102S	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.P1102S	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1102					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GTCACAGAAGCCAAATACTGA	0.443000													63	33					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180397109	180397109	+	Silent	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:180397109C>G	ENST00000273654.4	-	7	931	c.312G>C	c.(310-312)gcG>gcC	p.A104A	CCDC39_ENST00000442201.2_Silent_p.A20A			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	20					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTCCTCGTTCGCCACCGGGA	0.547000													52	334					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64502685	64502685	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:64502685G>T	ENST00000377494.1	-	11	2233	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K	RASGRP2_ENST00000394432.3_Missense_Mutation_p.N437K|RASGRP2_ENST00000354024.3_Missense_Mutation_p.N437K|RASGRP2_ENST00000377497.3_Missense_Mutation_p.N437K			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	437	EF-hand 1.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGACGTCAAAGTTCCGGAACA	0.582000													14	52					0.00316338	0.00321095	1	1	0
PLXNB2	23654	broad.mit.edu	37	22	50717426	50717426	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:50717426G>A	ENST00000449103.1	-	28	4544	c.4404C>T	c.(4402-4404)atC>atT	p.I1468I	PLXNB2_ENST00000359337.4_Silent_p.I1468I			O15031	PLXB2_HUMAN	plexin B2	1468					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGTCCTGCACGATCACGCTCA	0.617000													21	36					0	0	1	0	0
EGR2	1959	broad.mit.edu	37	10	64573737	64573737	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:64573737G>A	ENST00000242480.3	-	2	986	c.661C>T	c.(661-663)Cca>Tca	p.P221S	EGR2_ENST00000411732.1_Missense_Mutation_p.P171S|EGR2_ENST00000439032.1_Missense_Mutation_p.P221S	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	221					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGGATCATTGGGAAGAGACCT	0.587000													36	94					0	0	1	0	0
GXYLT2	727936	broad.mit.edu	37	3	73016736	73016736	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:73016736C>T	ENST00000389617.4	+	6	1176	c.1015C>T	c.(1015-1017)Ccc>Tcc	p.P339S		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	339					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						GAACTACCGTCCCGATCACTG	0.502000													4	19					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41063301	41063301	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:41063301G>A	ENST00000352632.3	+	26	5748	c.5662G>A	c.(5662-5664)Gtg>Atg	p.V1888M	SPTBN4_ENST00000392023.1_Missense_Mutation_p.V564M|SPTBN4_ENST00000598249.1_Missense_Mutation_p.V1888M|SPTBN4_ENST00000392025.1_Missense_Mutation_p.V631M|SPTBN4_ENST00000338932.3_Missense_Mutation_p.V1888M|SPTBN4_ENST00000595535.1_Missense_Mutation_p.V1888M			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1888					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCAGCTCCTCGTGTCCCAGGT	0.672000													20	109					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14368980	14368980	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:14368980C>T	ENST00000344204.4	+	17	3062	c.3038C>T	c.(3037-3039)tCt>tTt	p.S1013F	TRIO_ENST00000537187.1_Missense_Mutation_p.S1013F|TRIO_ENST00000509967.2_Missense_Mutation_p.S964F	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1013					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTCAACGCCTCTGTCGCTTTC	0.502000													28	48					0	0	1	0	0
MAD2L1BP	9587	broad.mit.edu	37	6	43604139	43604139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:43604139C>T	ENST00000451025.2	+	3	374	c.164C>T	c.(163-165)tCc>tTc	p.S55F	MAD2L1BP_ENST00000508232.1_3'UTR|MAD2L1BP_ENST00000372171.4_Missense_Mutation_p.S23F	NM_001003690.1	NP_001003690.1	Q15013	MD2BP_HUMAN	MAD2L1 binding protein	23	Interaction with MAD2L1.				mitotic cell cycle checkpoint|regulation of exit from mitosis	cytoplasm|nucleus|spindle	protein binding			breast(1)|large_intestine(1)|lung(3)	5	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TATGAGAAGTCCGAAGAAACT	0.473000													16	35					0	0	1	0	0
VPS36	51028	broad.mit.edu	37	13	53010427	53010427	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:53010427C>G	ENST00000378060.4	-	4	376	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	VPS36_ENST00000480923.1_5'UTR	NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	117	GLUE C-terminal.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		AAACTTACCTCAATCTGGCCA	0.428000													5	9					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43259296	43259296	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:43259296G>C	ENST00000404209.4	-	4	928	c.832C>G	c.(832-834)Cag>Gag	p.Q278E	PSG8_ENST00000406636.3_Missense_Mutation_p.Q156E|PSG8_ENST00000306511.4_Missense_Mutation_p.Q278E|PSG8_ENST00000401467.2_Missense_Mutation_p.Q185E|PSG8_ENST00000600709.1_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	278	Ig-like C2-type 2.					extracellular region		p.Q278*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGGAGGCTCTGACCATTTAGC	0.458000													31	321					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768688	31768688	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:31768688G>A	ENST00000240587.4	-	2	2338	c.2011C>T	c.(2011-2013)Ccc>Tcc	p.P671S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	671					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGGGGGCTGGGGCTGTTCTCC	0.662000													12	65					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44079860	44079860	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:44079860C>T	ENST00000272286.2	+	6	907	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	273	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCACCAGCCTCGCTCTGACAT	0.592000													17	76					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65383851	65383851	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:65383851C>T	ENST00000355703.3	+	1	608	c.69C>T	c.(67-69)ttC>ttT	p.F23F		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	23						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GTTGGTTCTTCGACCCGCACC	0.647000													14	36					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16012157	16012157	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:16012157G>A	ENST00000268712.3	-	19	2382	c.2125C>T	c.(2125-2127)Cag>Tag	p.Q709*	NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395848.1_Nonsense_Mutation_p.Q600*|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.Q709*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	709					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.Q709*(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCATCCTCCTGAGCAGAAACA	0.388000													31	61					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12985309	12985309	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:12985309G>A	ENST00000251472.4	+	26	4377	c.4338G>A	c.(4336-4338)aaG>aaA	p.K1446K		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	1446					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCGGGGCTAAGGCTGTGGTGC	0.736000													7	33					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131339527	131339527	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:131339527G>A	ENST00000372739.3	+	7	1015	c.905G>A	c.(904-906)aGa>aAa	p.R302K	SPTAN1_ENST00000358161.5_Missense_Mutation_p.R302K|SPTAN1_ENST00000372731.4_Missense_Mutation_p.R302K	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	302					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGTCTGGAGAGAGATCTTGCT	0.468000													5	129					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140306685	140306685	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:140306685C>G	ENST00000253807.2	+	1	208	c.208C>G	c.(208-210)Cta>Gta	p.L70V	PCDHAC1_ENST00000409700.3_Missense_Mutation_p.L70V|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGGTGGATCTACCCAGCGG	0.627000													15	40					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396443	154396443	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396443T>G	ENST00000435029.4	+	1	3184	c.3024T>G	c.(3022-3024)aaT>aaG	p.N1008K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1008	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATCTTCCTAATGATACCCTTC	0.423000													31	152					0	0	1	0	0
ANKS3	124401	broad.mit.edu	37	16	4750786	4750786	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:4750786C>T	ENST00000450067.2	-	7	1161	c.851G>A	c.(850-852)cGc>cAc	p.R284H	ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000304283.4_Intron|ANKS3_ENST00000585773.1_Intron			Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	0										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						AGAGTAGAAGCGCTGCAGCGG	0.607000													8	31					0	0	1	0	0
GINS4	84296	broad.mit.edu	37	8	41394782	41394782	+	Silent	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:41394782C>A	ENST00000523277.2	+	4	434	c.267C>A	c.(265-267)ctC>ctA	p.L89L	RP11-360L9.4_ENST00000523081.1_RNA|GINS4_ENST00000520710.1_Silent_p.L89L|GINS4_ENST00000276533.3_Silent_p.L89L|GINS4_ENST00000518671.1_Silent_p.L89L			Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	89					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			GCTACGTCCTCAGCAGCTACT	0.493000													15	10					1.37285e-15	1.48268e-15	1	1	0
RIMS2	9699	broad.mit.edu	37	8	105001624	105001624	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:105001624G>C	ENST00000507740.1	+	14	2631	c.2395G>C	c.(2395-2397)Gac>Cac	p.D799H	RIMS2_ENST00000436393.2_Missense_Mutation_p.D785H|RIMS2_ENST00000262231.10_Missense_Mutation_p.D846H|RIMS2_ENST00000406091.3_Missense_Mutation_p.D1007H	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1069					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGTCATGGATGACCATTATTC	0.383000										HNSCC(12;0.0054)			35	105					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46894661	46894661	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:46894661C>T	ENST00000378623.1	-	30	4815	c.4573G>A	c.(4573-4575)Gat>Aat	p.D1525N	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1525					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.D1525H(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CTGCGGGTATCATAGTCCAGG	0.502000													37	85					0	0	1	0	0
KRT19	3880	broad.mit.edu	37	17	39684170	39684170	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:39684170C>T	ENST00000361566.3	-	1	390	c.330G>A	c.(328-330)gtG>gtA	p.V110V		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CGCGGATCTTCACCTCTAGCT	0.652000													38	118					0	0	1	0	0
FAM19A2	338811	broad.mit.edu	37	12	62261181	62261181	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:62261181G>A	ENST00000416284.3	-	2	1610	c.26C>T	c.(25-27)gCa>gTa	p.A9V	FAM19A2_ENST00000551449.1_Missense_Mutation_p.A9V|FAM19A2_ENST00000551619.1_Missense_Mutation_p.A9V	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	9						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TCCTTTTGTTGCTTTCTGTAA	0.299000													12	32					0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951422	30951422	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:30951422C>A	ENST00000402321.1	-	3	1107	c.790G>T	c.(790-792)Gac>Tac	p.D264Y	GAL3ST1_ENST00000406955.1_Missense_Mutation_p.D264Y|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.D264Y|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.D264Y|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.D264Y|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.D264Y|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.D264Y			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	264					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CACAGCAGGTCCTTCAGCAGC	0.662000													35	146					2.42023e-17	2.63493e-17	1	1	0
HNRNPM	4670	broad.mit.edu	37	19	8550805	8550805	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:8550805C>T	ENST00000348943.3	+	15	1608	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	HNRNPM_ENST00000325495.4_Missense_Mutation_p.A498V	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	498	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GAGCGCATGGCCGCTCCCATC	0.677000													4	141					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2345606	2345606	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:2345606C>T	ENST00000301732.5	-	18	3099	c.2399G>A	c.(2398-2400)aGa>aAa	p.R800K	ABCA3_ENST00000382381.3_Missense_Mutation_p.R742K	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	800					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CGTGCTCTCTCTGGGAAGGAT	0.627000													79	246					0	0	1	0	0
PPM1G	5496	broad.mit.edu	37	2	27605047	27605047	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:27605047G>A	ENST00000344034.4	-	9	1644	c.1380C>T	c.(1378-1380)atC>atT	p.I460I	PPM1G_ENST00000350803.4_Silent_p.I460I	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	460					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CACGCTGGCTGATCTTTGATT	0.488000													25	73					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45433339	45433339	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:45433339G>C	ENST00000361462.2	+	1	1898	c.1715G>C	c.(1714-1716)aGa>aCa	p.R572T	FAM179B_ENST00000382233.2_Missense_Mutation_p.R572T|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361577.3_Missense_Mutation_p.R572T			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	572							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GTGCAGGCCAGATTGGCTAGG	0.468000													18	144					0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	376088	376088	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:376088C>T	ENST00000329962.6	+	12	1110	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	370						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTGTCCTTCGTTTATCCCA	0.682000													7	40					0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42679134	42679134	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:42679134C>T	ENST00000232978.8	+	13	2126	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	646					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGCTACCCATCCAAAGCACTT	0.413000													32	82					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49225034	49225034	+	Silent	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:49225034G>C	ENST00000308025.3	-	16	2209	c.2130C>G	c.(2128-2130)ctC>ctG	p.L710L		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	710	Helicase C-terminal.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CCCCAGCCTTGAGGTTGGACA	0.483000													48	133					0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543167	182543167	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:182543167C>G	ENST00000295108.3	-	2	878	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	141	Helix-loop-helix motif.				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGCAGAGTCTCGATTTTGGAC	0.582000													15	101					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71455407	71455407	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:71455407C>T	ENST00000304743.2	+	7	2881	c.2435C>T	c.(2434-2436)tCa>tTa	p.S812L	PCNX_ENST00000238570.5_Missense_Mutation_p.S812L|PCNX_ENST00000439984.3_Intron	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	812						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTCATCGGATCACCCCTAAGG	0.502000													24	237					0	0	1	0	0
ATL3	25923	broad.mit.edu	37	11	63420016	63420016	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:63420016G>A	ENST00000398868.3	-	4	713	c.437C>T	c.(436-438)gCa>gTa	p.A146V	RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000538786.1_Missense_Mutation_p.A128V|ATL3_ENST00000332645.4_Missense_Mutation_p.A173V	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	146					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						GCTGTCAAATGCCCCCTGGGT	0.388000													39	42					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49170117	49170117	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:49170117G>A	ENST00000307885.4	-	7	2246	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	ADCY6_ENST00000550422.1_Missense_Mutation_p.R518W|ADCY6_ENST00000357869.3_Missense_Mutation_p.R518W|ADCY6_ENST00000552090.1_5'UTR	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	518					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						AGTGTTGCCCGAGTGATGTGG	0.637000													21	60					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396521	154396521	+	Silent	SNP	T	T	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396521T>C	ENST00000435029.4	+	1	3262	c.3102T>C	c.(3100-3102)ttT>ttC	p.F1034F		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1034	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAGAAAAGTTTCTGGAGCAAA	0.423000													28	88					0	0	1	0	0
ALX4	60529	broad.mit.edu	37	11	44286499	44286499	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:44286499C>T	ENST00000329255.3	-	4	1244	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	381					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CCGTTGAGCTCGTAGCCATTG	0.652000													21	61					0	0	1	0	0
CRYGC	1420	broad.mit.edu	37	2	208994241	208994241	+	Missense_Mutation	SNP	C	C	T	rs149880539	byFrequency	TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:208994241C>T	ENST00000282141.3	-	2	213	c.176G>A	c.(175-177)cGg>cAg	p.R59Q		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	59	Beta/gamma crystallin 'Greek key' 2.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CTCCCCTCGCCGCAGCAAGTA	0.562000													40	104					0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77961252	77961252	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:77961252C>T	ENST00000361507.4	-	3	656	c.571G>A	c.(571-573)Gag>Aag	p.E191K	GAB2_ENST00000526030.1_Intron|GAB2_ENST00000340149.2_Missense_Mutation_p.E153K	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	191					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TAGAGATACTCCTGAGGTGCG	0.562000													141	98					0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18779737	18779737	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:18779737C>T	ENST00000300976.4	+	3	1620	c.1530C>T	c.(1528-1530)atC>atT	p.I510I	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	510										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCGGCCGCATCTATGCCCTCG	0.682000													29	98					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216420042	216420042	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:216420042C>T	ENST00000366943.2	-	13	3080	c.2694G>A	c.(2692-2694)caG>caA	p.Q898Q	USH2A_ENST00000307340.3_Silent_p.Q898Q|USH2A_ENST00000366942.3_Silent_p.Q898Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	898	Laminin EGF-like 7.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTCACACATCTGGCAGTGTT	0.473000										HNSCC(13;0.011)			29	111					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048002	9048002	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:9048002G>A	ENST00000397910.4	-	5	33832	c.33629C>T	c.(33628-33630)tCa>tTa	p.S11210L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11212	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGACCAGTGAAGTCACCAG	0.493000													3	27					0	0	1	0	0
RP11-467N20.5	0	broad.mit.edu	37	15	23412207	23412207	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:23412207T>C	ENST00000558241.1	-	2	340	c.250A>G	c.(250-252)Ata>Gta	p.I84V																	endometrium(1)	1						CCATTATTTATTTTCTTCTTT	0.527000													11	165					0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41387515	41387515	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:41387515C>G	ENST00000301146.4	-	2	863	c.322G>C	c.(322-324)Gac>Cac	p.D108H	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	108				D -> E (in Ref. 2; AAB40520).		endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AAGACCCAGTCGAAGGTGGCT	0.642000													12	114					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63477171	63477171	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:63477171G>A	ENST00000536984.2	+	3	1136	c.442G>A	c.(442-444)Gac>Aac	p.D148N	CDH7_ENST00000323011.3_Missense_Mutation_p.D148N|CDH7_ENST00000397968.2_Missense_Mutation_p.D148N			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	148	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGATATCAACGACAATGAACC	0.512000													13	60					0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80130728	80130728	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:80130728G>A	ENST00000392347.1	-	11	1551	c.1515C>T	c.(1513-1515)ctC>ctT	p.L505L	CCDC57_ENST00000392343.3_Silent_p.L505L|CCDC57_ENST00000389641.4_Silent_p.L505L|CCDC57_ENST00000327026.3_5'UTR	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	505										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CATGCTGCCTGAGAAGCATCT	0.512000													4	10					0	0	1	0	0
ATXN7L3	56970	broad.mit.edu	37	17	42271732	42271732	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:42271732G>C	ENST00000389384.4	-	12	1251	c.943C>G	c.(943-945)Ctg>Gtg	p.L315V	ATXN7L3_ENST00000593073.1_5'UTR|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.L322V	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	315					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ACCAGGCTCAGATGGGATTTC	0.522000													27	100					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25449420	25449420	+	RNA	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:25449420G>T	ENST00000424208.1	+	0	2312				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						GGCCCTTCCTGTTGCCCTAGT	0.622000													31	35					1.75199e-13	1.88211e-13	1	1	0
NEDD4L	23327	broad.mit.edu	37	18	56008370	56008370	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:56008370G>A	ENST00000456986.1	+	14	1463	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	NEDD4L_ENST00000456173.2_Missense_Mutation_p.R268Q|NEDD4L_ENST00000356462.6_Intron|NEDD4L_ENST00000256830.9_Intron|NEDD4L_ENST00000382850.4_Missense_Mutation_p.R389Q|NEDD4L_ENST00000256832.7_Missense_Mutation_p.R268Q|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R401Q|NEDD4L_ENST00000435432.2_Missense_Mutation_p.R268Q|NEDD4L_ENST00000431212.2_Missense_Mutation_p.R288Q|NEDD4L_ENST00000400345.3_Missense_Mutation_p.R409Q|NEDD4L_ENST00000586263.1_Missense_Mutation_p.R381Q|NEDD4L_ENST00000589054.1_Intron	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	409					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CATAACAATCGAACCACAACT	0.483000													8	14					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91835659	91835659	+	Silent	SNP	C	C	T	rs144869683		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:91835659C>T	ENST00000394232.1	+	13	2399	c.1929C>T	c.(1927-1929)acC>acT	p.T643T	SV2B_ENST00000330276.4_Silent_p.T643T|SV2B_ENST00000545111.2_Silent_p.T492T	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	643					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGGGAAACACCATCTTTGCTT	0.483000													21	112					0	0	1	0	0
TAF5L	27097	broad.mit.edu	37	1	229730338	229730338	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:229730338C>T	ENST00000258281.2	-	5	1641	c.1476G>A	c.(1474-1476)ttG>ttA	p.L492L	TAF5L_ENST00000366676.1_Silent_p.L492L	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	492					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CCCACAGCTTCAACCGCTGGT	0.562000													33	87					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396373	154396373	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396373A>G	ENST00000435029.4	+	1	3114	c.2954A>G	c.(2953-2955)cAa>cGa	p.Q985R		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	985	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGCTTCTCCAAGAGAATGAA	0.453000													30	141					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47812185	47812185	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:47812185C>T	ENST00000285106.6	-	5	1287	c.573G>A	c.(571-573)aaG>aaA	p.K191K	CXXC1_ENST00000589940.1_Silent_p.K191K|CXXC1_ENST00000412036.2_Silent_p.K191K	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	191					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCCCGAACTTCTTCATGTCCC	0.617000													37	71					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172520757	172520757	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:172520757C>T	ENST00000367723.3	+	3	880	c.756C>T	c.(754-756)ttC>ttT	p.F252F	SUCO_ENST00000263688.3_Silent_p.F56F	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		ATGTACAATTCCAGAAAAAGG	0.358000													8	19					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123054275	123054275	+	Silent	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:123054275C>G	ENST00000333479.7	+	22	1941	c.1764C>G	c.(1762-1764)ctC>ctG	p.L588L	KNTC1_ENST00000450485.2_Silent_p.L551L	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	588					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGAGCTTGCTCAACTCAATGT	0.383000													19	44					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37049397	37049397	+	Silent	SNP	A	A	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:37049397A>G	ENST00000282516.8	+	40	7447	c.6948A>G	c.(6946-6948)ccA>ccG	p.P2316P	NIPBL_ENST00000448238.2_Silent_p.P2316P	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2316					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTATTCATCCAGTTCAGGTAA	0.373000													10	225					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:7578271T>A	ENST00000420246.2	-	6	710	c.578A>T	c.(577-579)cAt>cTt	p.H193L	TP53_ENST00000359597.4_Missense_Mutation_p.H193L|TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000413465.2_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.H193L|TP53_ENST00000455263.2_Missense_Mutation_p.H193L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCGGATAAGATGCTGAGGAGG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			26	37					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420855	105420855	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:105420855C>T	ENST00000333244.5	-	7	1052	c.933G>A	c.(931-933)caG>caA	p.Q311Q		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	311						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCCTGCCTTCTGCTCTTGGC	0.632000													6	42					0	0	1	0	0
KCTD9	54793	broad.mit.edu	37	8	25303757	25303757	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:25303757C>A	ENST00000221200.4	-	2	278	c.58G>T	c.(58-60)Gta>Tta	p.V20L	KCTD9_ENST00000518067.1_5'UTR	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	20	KHA.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		GTTCCATATACAGCAACCACC	0.368000													12	75					0.0135373	0.0136045	1	1	0
EXT1	2131	broad.mit.edu	37	8	119123066	119123066	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:119123066C>G	ENST00000378204.2	-	1	1026	c.220G>C	c.(220-222)Gag>Cag	p.E74Q		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	74					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CTGGAATCCTCGTTTTCCAAT	0.577000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				34	120					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131792943	131792943	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:131792943C>G	ENST00000286355.5	-	18	5541	c.3449G>C	c.(3448-3450)cGa>cCa	p.R1150P	ADCY8_ENST00000377928.3_Missense_Mutation_p.R1019P	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1150					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GATCTCCCCTCGGTAATCAAA	0.517000										HNSCC(32;0.087)			80	180					0	0	1	0	0
SPOCK1	6695	broad.mit.edu	37	5	136324223	136324223	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:136324223G>A	ENST00000394945.1	-	8	985	c.816C>T	c.(814-816)atC>atT	p.I272I	SPOCK1_ENST00000282223.7_Silent_p.I272I|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	272					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TATCCAGGTAGATGGCATTGA	0.493000													22	59					0	0	1	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1																						GTGGTTGCCACGGTAACTAAT	0.393000													3	18					0	0	1	0	0
RPLP0	6175	broad.mit.edu	37	12	120636945	120636945	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:120636945G>A	ENST00000551150.1	-	3	609	c.294C>T	c.(292-294)atC>atT	p.I98I	RPLP0_ENST00000392514.4_Silent_p.I98I|RPLP0_ENST00000550296.1_5'UTR|RPLP0_ENST00000313104.5_Silent_p.I98I|RPLP0_ENST00000546989.1_Silent_p.I98I|RPLP0_ENST00000228306.4_Silent_p.I98I			P05388	RLA0_HUMAN	ribosomal protein, large, P0	98					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACATGTCCCTGATCTCAGTGA	0.473000													11	59					0	0	1	0	0
ZIK1	284307	broad.mit.edu	37	19	58101637	58101637	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:58101637C>T	ENST00000597850.1	+	4	673	c.458C>T	c.(457-459)tCa>tTa	p.S153L	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.S140L|ZIK1_ENST00000599456.1_Missense_Mutation_p.S98L	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GACAGAGCCTCATATGTGAAG	0.493000													13	82					0	0	1	0	0
FABP4	2167	broad.mit.edu	37	8	82392784	82392784	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:82392784C>T	ENST00000256104.4	-	2	218	c.123G>A	c.(121-123)atG>atA	p.M41I	FABP4_ENST00000518669.1_Intron|RP11-157I4.4_ENST00000524085.2_RNA	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	41					triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			CACTGATGATCATGTTAGGTT	0.413000													22	54					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851928	14851928	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:14851928C>A	ENST00000358984.4	+	36	3808	c.3628C>A	c.(3628-3630)Cct>Act	p.P1210T		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1295										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGGAGATGCTCCTTTGCAAGG	0.398000													12	9					6.40141e-05	6.6137e-05	1	1	0
FRAS1	80144	broad.mit.edu	37	4	79359850	79359850	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:79359850G>T	ENST00000264895.6	+	39	5784	c.5344G>T	c.(5344-5346)Gac>Tac	p.D1782Y	FRAS1_ENST00000325942.6_Missense_Mutation_p.D1782Y	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1781					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						cacaATGGAAGACATCAATAA	0.348000													7	11					0.00198382	0.00201871	1	1	0
IVD	3712	broad.mit.edu	37	15	40702842	40702842	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:40702842C>G	ENST00000249760.2	+	4	645	c.302C>G	c.(301-303)tCc>tGc	p.S101C	IVD_ENST00000479013.2_Missense_Mutation_p.S74C|IVD_ENST00000487418.2_Missense_Mutation_p.S104C|IVD_ENST00000490194.1_3'UTR	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	101					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		TATGGCGGCTCCGGCCTGGGC	0.547000													37	55					0	0	1	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89917768	89917768	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:89917768C>G	ENST00000548729.1	-	3	852	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q	POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000413530.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.E187Q|POC1B-GALNT4_ENST00000547474.1_Intron|POC1B_ENST00000541909.1_Intron	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					ATGTAAGTTTCAAGTTGTGTC	0.443000											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	44					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73654511	73654511	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:73654511G>T	ENST00000420326.2	-	7	1175	c.1016C>A	c.(1015-1017)tCt>tAt	p.S339Y	RECQL5_ENST00000423245.2_Missense_Mutation_p.S312Y|RECQL5_ENST00000340830.5_Missense_Mutation_p.S339Y|RECQL5_ENST00000317905.5_Missense_Mutation_p.S339Y|RECQL5_ENST00000584999.1_Missense_Mutation_p.S339Y	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	339	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCCAGCCATAGACTTGGCAAT	0.542000								Other identified genes with known or suspected DNA repair function					91	159					6.65942e-36	7.49185e-36	1	1	0
CEP104	9731	broad.mit.edu	37	1	3750506	3750506	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:3750506C>G	ENST00000378230.3	-	12	1903	c.1579G>C	c.(1579-1581)Gag>Cag	p.E527Q	CEP104_ENST00000460038.1_5'UTR	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	527						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						ATGGTCCTCTCCACACAGTGA	0.423000													16	43					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60673966	60673966	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:60673966G>A	ENST00000582809.1	+	18	1737	c.1034G>A	c.(1033-1035)cGg>cAg	p.R345Q	TLK2_ENST00000346027.5_Missense_Mutation_p.R494Q|TLK2_ENST00000326270.9_Missense_Mutation_p.R516Q|TLK2_ENST00000542523.1_Missense_Mutation_p.R462Q|TLK2_ENST00000343388.7_Missense_Mutation_p.R462Q			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	516					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AGGGAATACCGGATTCATAAA	0.378000													31	157					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309207	248309207	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:248309207G>C	ENST00000366476.1	+	1	758	c.758G>C	c.(757-759)gGa>gCa	p.G253A		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATGTACTATGGAGCAGGTTTG	0.498000													43	139					0	0	1	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005181	1005181	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:1005181G>A	ENST00000234389.3	+	3	1700	c.1681G>A	c.(1681-1683)Gac>Aac	p.D561N	GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	561					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GCGGGCACGGGACACGGCCTC	0.652000													21	86					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396896	154396896	+	Silent	SNP	T	T	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396896T>C	ENST00000435029.4	+	1	3637	c.3477T>C	c.(3475-3477)ccT>ccC	p.P1159P		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1159	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCTTTAACCCTGTCTGTGCCA	0.532000													5	65					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113349834	113349834	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:113349834G>A	ENST00000297405.5	-	43	7023	c.6779C>T	c.(6778-6780)tCa>tTa	p.S2260L	CSMD3_ENST00000352409.3_Missense_Mutation_p.S2190L|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2156L|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2220L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2260	Sushi 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTGAGAGCTGAATTTCCAAT	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			35	82					0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32438277	32438277	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:32438277C>T	ENST00000283365.9	+	15	1660	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	DTNA_ENST00000597674.1_Missense_Mutation_p.R116W|DTNA_ENST00000269192.7_Missense_Mutation_p.R203W|DTNA_ENST00000399121.5_Missense_Mutation_p.R434W|DTNA_ENST00000269190.7_Missense_Mutation_p.R495W|DTNA_ENST00000596745.1_Missense_Mutation_p.R244W|DTNA_ENST00000348997.5_Missense_Mutation_p.R491W|DTNA_ENST00000444659.1_Missense_Mutation_p.R494W|DTNA_ENST00000399113.3_Missense_Mutation_p.R494W|DTNA_ENST00000399097.3_Missense_Mutation_p.R142W|DTNA_ENST00000597599.1_Missense_Mutation_p.R434W|DTNA_ENST00000556414.3_Missense_Mutation_p.R146W|DTNA_ENST00000269191.6_Missense_Mutation_p.R494W|DTNA_ENST00000598142.1_Missense_Mutation_p.R437W|DTNA_ENST00000598774.1_Missense_Mutation_p.R437W|DTNA_ENST00000601125.1_Missense_Mutation_p.R116W|DTNA_ENST00000591182.1_Missense_Mutation_p.R142W|DTNA_ENST00000595022.1_Missense_Mutation_p.R434W|DTNA_ENST00000599844.1_Missense_Mutation_p.R116W|DTNA_ENST00000598334.1_Missense_Mutation_p.R434W	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	494	Syntrophin-binding region.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.R494W(1)|p.R142W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CCAGAGACTTCGGCTAGAGCA	0.522000													11	27					0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114057948	114057948	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:114057948G>C	ENST00000369422.3	+	7	793	c.793G>C	c.(793-795)Gag>Cag	p.E265Q		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	265	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GTTACACTGTGAGACGTTCAT	0.517000													10	33					0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	100942945	100942945	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:100942945G>A	ENST00000284382.4	-	13	1548	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	RP11-168G16.2_ENST00000560643.1_RNA|CERS3_ENST00000560944.1_5'UTR|RP11-168G16.2_ENST00000560718.1_RNA|CERS3_ENST00000394113.1_Silent_p.L375L|CERS3_ENST00000538112.2_Silent_p.L375L	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	375						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CATTGGGAATGAGGTGCCTCT	0.532000													7	52					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40293461	40293461	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:40293461G>T	ENST00000302541.6	+	16	2860	c.2518G>T	c.(2518-2520)Gaa>Taa	p.E840*	MYRIP_ENST00000539167.1_Nonsense_Mutation_p.E653*|MYRIP_ENST00000396217.3_Nonsense_Mutation_p.E751*|MYRIP_ENST00000444716.1_Nonsense_Mutation_p.E840*|MYRIP_ENST00000425621.1_Nonsense_Mutation_p.E775*|MYRIP_ENST00000459828.1_3'UTR	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	840	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CAGGACTAAGGAAAGGAAAGG	0.403000													7	28					0.00198382	0.00201871	1	1	0
GNAL	2774	broad.mit.edu	37	18	11752440	11752440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:11752440G>A	ENST00000423027.3	+	1	329	c.8G>A	c.(7-9)tGt>tAt	p.C3Y	GNAL_ENST00000269162.5_Missense_Mutation_p.C3Y|GNAL_ENST00000535121.1_Missense_Mutation_p.C3Y|GNAL_ENST00000334049.6_Intron			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	3					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						GGCATGGGGTGTTTGGGCGGC	0.567000													45	129					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146351107	146351107	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:146351107A>G	ENST00000392299.2	+	2	924	c.454A>G	c.(454-456)Act>Gct	p.T152A	GRM1_ENST00000507907.1_Missense_Mutation_p.T152A|GRM1_ENST00000492807.2_Missense_Mutation_p.T152A|GRM1_ENST00000361719.2_Missense_Mutation_p.T152A|GRM1_ENST00000282753.1_Missense_Mutation_p.T152A|GRM1_ENST00000355289.4_Missense_Mutation_p.T152A			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	152					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCAGGCAGGACTAAGAAGCC	0.562000													74	30					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202137501	202137501	+	Splice_Site	SNP	T	T	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:202137501T>C	ENST00000358485.4	+	4	923		c.e4+2		CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000432109.2_Splice_Site|CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000392266.3_Splice_Site	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase						activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCAGCAAAGGTAGAAACAACC	0.413000										HNSCC(4;0.00038)			140	135					0	0	1	0	0
RNASET2	8635	broad.mit.edu	37	6	167344565	167344565	+	Silent	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:167344565C>A	ENST00000366855.6	-	9	1095	c.420G>T	c.(418-420)gtG>gtT	p.V140V	RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000508775.1_Silent_p.V178V|RNASET2_ENST00000476238.2_Silent_p.V178V			O00584	RNT2_HUMAN	ribonuclease T2	178					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		TTTTGGGTATCACTCCATATA	0.373000													35	100					2.09667e-21	2.31376e-21	1	1	0
NUCB1	4924	broad.mit.edu	37	19	49422497	49422497	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:49422497C>T	ENST00000405315.4	+	10	1290	c.956C>T	c.(955-957)gCa>gTa	p.A319V	NUCB1_ENST00000263273.5_Missense_Mutation_p.A319V|NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Missense_Mutation_p.A319V	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	319	Binds to GNAI2 and GNAI3 (By similarity).|EF-hand 2.					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GAGTTCCTCGCATCCACTCAG	0.627000													16	47					0	0	1	0	0
STIP1	10963	broad.mit.edu	37	11	63970956	63970956	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:63970956C>T	ENST00000358794.5	+	13	2115	c.1562C>T	c.(1561-1563)gCg>gTg	p.A521V	STIP1_ENST00000538945.1_Missense_Mutation_p.A450V|STIP1_ENST00000305218.4_Missense_Mutation_p.A474V			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	474	STI1 2.				axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						TGTATGATGGCGCAGTACAAC	0.602000													19	21					0	0	1	0	0
UTP14A	10813	broad.mit.edu	37	X	129045063	129045063	+	Silent	SNP	A	A	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chrX:129045063A>G	ENST00000394422.3	+	5	346	c.318A>G	c.(316-318)caA>caG	p.Q106Q	UTP14A_ENST00000425117.2_Silent_p.Q106Q|UTP14A_ENST00000371051.5_Silent_p.Q52Q|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	106					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TGAAAAAGCAACTGAGTAGAG	0.423000													46	30					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49420274	49420274	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:49420274G>A	ENST00000301067.7	-	48	15474	c.15475C>T	c.(15475-15477)Cgg>Tgg	p.R5159W		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ACCTCGTCCCGCTCAATGTAG	0.562000													21	47					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	716533	716533	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:716533G>A	ENST00000549091.1	+	38	4917	c.4825G>A	c.(4825-4827)Gac>Aac	p.D1609N	WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000293879.4_Missense_Mutation_p.D1607N|WDR90_ENST00000315764.4_Intron|WDR90_ENST00000547944.1_Missense_Mutation_p.D206N	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1607										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTGGGCCTCCGACTGGCTGCG	0.632000													16	57					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	153982496	153982496	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:153982496G>A	ENST00000368559.3	-	35	4953	c.4882C>T	c.(4882-4884)Cca>Tca	p.P1628S	NUP210L_ENST00000368553.1_Missense_Mutation_p.P561S|NUP210L_ENST00000271854.3_Missense_Mutation_p.P1628S	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1628						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTACTTGCTGGAATGTCTAGC	0.413000													47	59					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65271069	65271069	+	RNA	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:65271069C>T	ENST00000534336.1	+	0	5837					NR_002819.2																						TTAAATCATTCAAAATAATAA	0.289000													19	61					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	66879068	66879068	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:66879068G>A	ENST00000544246.1	-	5	4124	c.3433C>T	c.(3433-3435)Cct>Tct	p.P1145S	PCDH9_ENST00000328454.5_Missense_Mutation_p.P1111S|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000377865.2_Missense_Mutation_p.P1145S|PCDH9_ENST00000456367.1_Missense_Mutation_p.P1111S	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1145					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P1145S(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAGCCAGGAGGCATCCAGCAA	0.507000													82	27					0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6476963	6476963	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:6476963G>A	ENST00000381480.2	-	10	695	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	DENND1C_ENST00000543576.1_Silent_p.L151L	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	195	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GCCACCACCAGCTCCGTTAGG	0.642000													30	37					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745446	140745446	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:140745446C>T	ENST00000518069.1	+	1	1549	c.1549C>T	c.(1549-1551)Ctg>Ttg	p.L517L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGTATGCTCTGAGATCCTT	0.547000													66	163					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23812438	23812438	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:23812438C>T	ENST00000314520.3	+	1	1985	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568945.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	503						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AAGAATATTTCAATTTGATTC	0.458000													21	115					0	0	1	0	0
DCTN5	84516	broad.mit.edu	37	16	23678400	23678400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:23678400C>T	ENST00000300087.2	+	6	635	c.484C>T	c.(484-486)Cag>Tag	p.Q162*	DCTN5_ENST00000563998.1_3'UTR	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	162						centrosome	transferase activity			endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		GGAGTGCACTCAGGAGCTGAT	0.493000													16	77					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450284	85450284	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:85450284G>A	ENST00000393217.2	+	8	1774	c.1713G>A	c.(1711-1713)gaG>gaA	p.E571E		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	571										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCAATGAAGAGCAGAAAATAA	0.284000													6	13					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396403	154396403	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396403T>C	ENST00000435029.4	+	1	3144	c.2984T>C	c.(2983-2985)aTc>aCc	p.I995T		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	995	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGAAACTGATCCTCCTCCAG	0.433000													37	157					0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31075256	31075256	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:31075256C>G	ENST00000538906.1	-	2	1309	c.525G>C	c.(523-525)aaG>aaC	p.K175N	ZNF668_ENST00000300849.4_Missense_Mutation_p.K175N|ZNF668_ENST00000535577.1_Missense_Mutation_p.K175N|ZNF668_ENST00000539836.3_Missense_Mutation_p.K198N|ZNF668_ENST00000394983.2_Missense_Mutation_p.K175N|ZNF668_ENST00000426488.2_Missense_Mutation_p.K198N	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CAGCAAAGCTCTTGCCGCAGT	0.652000													8	16					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228565248	228565248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:228565248C>T	ENST00000570156.2	+	113	26283	c.26209C>T	c.(26209-26211)Cag>Tag	p.Q8737*	OBSCN_ENST00000366707.4_Nonsense_Mutation_p.Q5414*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.Q7780*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7780					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGTGCCACCCAGTACCTGCA	0.602000													10	32					0	0	1	0	0
KLK1	3816	broad.mit.edu	37	19	51325104	51325104	+	Missense_Mutation	SNP	G	G	A	rs149251777		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:51325104G>A	ENST00000301420.2	-	2	105	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	24					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCACAATCCGGGACTGAATC	0.652000													12	29					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62763267	62763267	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:62763267C>T	ENST00000336232.2	-	7	1045	c.910G>A	c.(910-912)Gag>Aag	p.E304K	SLC22A8_ENST00000535878.1_Missense_Mutation_p.E181K|SLC22A8_ENST00000545207.1_Missense_Mutation_p.E213K|SLC22A8_ENST00000311438.8_Missense_Mutation_p.E304K|SLC22A8_ENST00000430500.2_Missense_Mutation_p.E304K	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	304					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						AAGGAGATCTCCTTCTGCAGG	0.592000													37	133					0	0	1	0	0
FBXL12	54850	broad.mit.edu	37	19	9921884	9921884	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:9921884G>A	ENST00000247977.4	-	3	910	c.669C>T	c.(667-669)atC>atT	p.I223I	FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000585379.1_Silent_p.I170I|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000591009.1_Silent_p.I170I	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	223							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						GGTGGCGGCTGATGGCCAGCA	0.672000													17	42					0	0	1	0	0
LINC00477	144360	broad.mit.edu	37	12	24736326	24736326	+	RNA	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:24736326C>T	ENST00000483544.1	-	0	776					NR_029451.2																						AGAAGGGTGTCAGCACCCTTT	0.547000													11	28					0	0	1	0	0
ERGIC3	51614	broad.mit.edu	37	20	34144782	34144782	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:34144782G>C	ENST00000348547.2	+	11	995	c.918G>C	c.(916-918)gaG>gaC	p.E306D	ERGIC3_ENST00000279052.6_Missense_Mutation_p.E311D|ERGIC3_ENST00000447986.1_Missense_Mutation_p.E321D|ERGIC3_ENST00000357394.4_Missense_Mutation_p.E311D	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	306					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding	p.E311E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CCAGACATGAGAAGGTTGCCA	0.597000													16	24					0	0	1	0	0
KPNA3	3839	broad.mit.edu	37	13	50296663	50296663	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:50296663G>A	ENST00000261667.3	-	8	920	c.506C>T	c.(505-507)cCa>cTa	p.P169L		NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN	karyopherin alpha 3 (importin alpha 4)	169	NLS binding site (major) (By similarity).				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		ATTCTGATGTGGTGAACGAAG	0.333000													22	14					0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225379491	225379491	+	Splice_Site	SNP	T	T	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:225379491T>C	ENST00000264414.4	-	4	717		c.e4-2		CUL3_ENST00000409777.1_Splice_Site|CUL3_ENST00000432260.2_Splice_Site|CUL3_ENST00000344951.4_Splice_Site|CUL3_ENST00000409096.1_Splice_Site	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3						cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CACACGGTCCTACAGTTAAAG	0.308000													10	18					0	0	1	0	0
RNLS	55328	broad.mit.edu	37	10	90122397	90122397	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:90122397C>T	ENST00000371947.3	-	5	1951	c.612G>A	c.(610-612)acG>acA	p.T204T	RNLS_ENST00000331772.4_Silent_p.T204T|RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Silent_p.T121T	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	204						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						CATCAATCTTCGTACCAGCTT	0.468000													10	41					0	0	1	0	0
CELF6	60677	broad.mit.edu	37	15	72579719	72579719	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:72579719C>T	ENST00000287202.5	-	12	1587	c.1333G>A	c.(1333-1335)Gac>Aac	p.D445N	CELF6_ENST00000539635.1_Missense_Mutation_p.D306N|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000567083.1_Missense_Mutation_p.D418N|CELF6_ENST00000543764.2_Missense_Mutation_p.D308N|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000395258.2_Missense_Mutation_p.D332N	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	445	RRM 3.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						GTTGGATTGTCAAAACTAACA	0.537000													20	54					0	0	1	0	0
MSANTD3-TMEFF1	100526694	broad.mit.edu	37	9	103279035	103279035	+	Nonstop_Mutation	SNP	A	A	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:103279035A>C	ENST00000502978.1	+	5	432	c.432A>C	c.(430-432)tgA>tgC	p.*144C	TMEFF1_ENST00000374879.4_Missense_Mutation_p.E181A|TMEFF1_ENST00000334943.6_Missense_Mutation_p.E142A	NM_001198812.1	NP_001185741.1	Q8IYR6	TEFF1_HUMAN		0	Kazal-like 1.				multicellular organismal development	integral to membrane|plasma membrane											GAGTGTGATGAAGATGCAGAA	0.383000													21	47					0	0	1	0	0
SNHG23	100507242	broad.mit.edu	37	14	101421722	101421722	+	RNA	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:101421722C>T	ENST00000556637.1	+	0	399				SNORD114-5_ENST00000362928.1_RNA																							TGATGATGACCACTGGTGGCC	0.398000													20	69					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29775131	29775131	+	Silent	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:29775131G>C	ENST00000375398.2	-	28	5111	c.4662C>G	c.(4660-4662)ctC>ctG	p.L1554L	PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Silent_p.L1128L|SVIL_ENST00000538146.1_Silent_p.L346L|SVIL_ENST00000355867.4_Silent_p.L1554L|SVIL_ENST00000535393.1_Silent_p.L468L			O95425	SVIL_HUMAN	supervillin	1554	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTGCTTCATAGAGTTCATCTT	0.423000													6	105					0	0	1	0	0
JUNB	3726	broad.mit.edu	37	19	12903302	12903302	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:12903302C>T	ENST00000302754.4	+	1	993	c.717C>T	c.(715-717)ttC>ttT	p.F239F		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	239						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CCTCCACCTTCAAGGAGGAAC	0.706000													5	12					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72205057	72205057	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:72205057T>A	ENST00000340595.3	+	1	288	c.92T>A	c.(91-93)aTg>aAg	p.M31K	SLC4A4_ENST00000264485.5_Intron|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000514331.1_Intron|SLC4A4_ENST00000512686.1_Missense_Mutation_p.M31K	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	0						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GTCCAGCCAATGTTTAACCAC	0.537000													84	226					0	0	1	0	0
PITPNC1	26207	broad.mit.edu	37	17	65671646	65671646	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:65671646G>C	ENST00000580974.1	+	8	1366	c.670G>C	c.(670-672)Gat>Cat	p.D224H	PITPNC1_ENST00000581322.1_Missense_Mutation_p.D224H|PITPNC1_ENST00000299954.9_Missense_Mutation_p.D224H|PITPNC1_ENST00000335257.6_Missense_Mutation_p.D224H	NM_012417.3|NM_181671.2	NP_036549.2|NP_858057.1	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	224					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			TGCATGGGTTGATGAGTGGTA	0.398000													31	138					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88767090	88767090	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:88767090G>A	ENST00000497649.2	+	6	1376	c.998G>A	c.(997-999)aGa>aAa	p.R333K	MEPE_ENST00000560249.1_Missense_Mutation_p.R244K|MEPE_ENST00000395102.4_Missense_Mutation_p.R388K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.R357K|MEPE_ENST00000540395.1_Missense_Mutation_p.R244K|MEPE_ENST00000361056.3_Missense_Mutation_p.R357K			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	357					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GAAGGAAACAGAGTGGATGCT	0.478000													8	44					0	0	1	0	0
IGFL4	444882	broad.mit.edu	37	19	46543472	46543472	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:46543472C>T	ENST00000377697.1	-	3	326	c.273G>A	c.(271-273)aaG>aaA	p.K91K	IGFL4_ENST00000601672.1_5'UTR	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4	91						extracellular region				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		TGCCTGGGACCTTGAACCTCA	0.597000													28	108					0	0	1	0	0
ZNF774	342132	broad.mit.edu	37	15	90904219	90904219	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:90904219G>A	ENST00000354377.3	+	4	1342	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGGATTCGCCGACAGCTCCGC	0.493000													22	68					0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61069779	61069779	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:61069779C>T	ENST00000301764.7	-	25	3562	c.3165G>A	c.(3163-3165)caG>caA	p.Q1055Q	DDB1_ENST00000538470.1_Silent_p.Q102Q|DDB1_ENST00000451943.2_Silent_p.Q42Q|DDB1_ENST00000450997.2_Silent_p.Q366Q	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1055	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TGAGTCGATTCTGCATGTCCA	0.532000								Nucleotide excision repair (NER)					28	111					0	0	1	0	0
STOML1	9399	broad.mit.edu	37	15	74277772	74277772	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:74277772G>A	ENST00000316900.5	-	5	801	c.677C>T	c.(676-678)cCc>cTc	p.P226L	STOML1_ENST00000564777.1_Missense_Mutation_p.P176L|STOML1_ENST00000359750.4_Missense_Mutation_p.P226L|STOML1_ENST00000541638.1_Missense_Mutation_p.P184L|STOML1_ENST00000316911.6_Missense_Mutation_p.P176L|STOML1_ENST00000561656.1_Missense_Mutation_p.P139L	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	226						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GCTGTCCTGGGGCGGCTGGAG	0.667000													5	6					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	174951857	174951857	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:174951857C>T	ENST00000454872.1	+	3	810	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	228					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AGGCCCTTCTCCCAGCACTGT	0.473000													21	178					0	0	1	0	0
KIFC3	3801	broad.mit.edu	37	16	57796128	57796128	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:57796128C>T	ENST00000379655.4	-	13	1929	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	KIFC3_ENST00000465878.2_Missense_Mutation_p.E419K|KIFC3_ENST00000445690.2_Missense_Mutation_p.E558K|KIFC3_ENST00000421376.2_Missense_Mutation_p.E419K|KIFC3_ENST00000543930.1_Missense_Mutation_p.E416K|KIFC3_ENST00000539578.1_Missense_Mutation_p.E500K|KIFC3_ENST00000562903.1_Missense_Mutation_p.E419K|KIFC3_ENST00000540079.2_Missense_Mutation_p.E456K|KIFC3_ENST00000541240.1_Missense_Mutation_p.E580K	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	558	Kinesin-motor.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TCCTGCACCTCGGAGAAGAGC	0.627000													11	4					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202136242	202136242	+	Silent	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:202136242C>A	ENST00000358485.4	+	3	682	c.486C>A	c.(484-486)gtC>gtA	p.V162V	CASP8_ENST00000264274.9_Silent_p.V103V|CASP8_ENST00000264275.5_Silent_p.V135V|CASP8_ENST00000323492.7_Silent_p.V103V|CASP8_ENST00000432109.2_Silent_p.V103V|CASP8_ENST00000392259.2_Silent_p.V103V|CASP8_ENST00000392258.3_Silent_p.V103V|CASP8_ENST00000392266.3_Silent_p.V103V	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	103	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ACCACAGGGTCATGCTCTATC	0.403000										HNSCC(4;0.00038)			50	55					3.76525e-18	4.11031e-18	1	1	0
RPL13	6137	broad.mit.edu	37	16	89627382	89627382	+	Silent	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:89627382G>C	ENST00000393099.3	+	1	264	c.15G>C	c.(13-15)cgG>cgC	p.R5R	RPL13_ENST00000567815.1_Silent_p.R5R|RPL13_ENST00000311528.5_Silent_p.R5R|RPL13_ENST00000452368.3_Silent_p.R5R	NM_033251.2	NP_150254.1	P26373	RL13_HUMAN	ribosomal protein L13	5					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic ribosome	protein binding|RNA binding|structural constituent of ribosome			lung(3)|skin(1)|upper_aerodigestive_tract(2)	6		all_hematologic(23;0.0748)		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)		CGCCCAGCCGGAATGGCATGG	0.726000													18	12					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543539	28543539	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:28543539G>A	ENST00000452236.2	-	3	1560	c.943C>T	c.(943-945)Cat>Tat	p.H315Y		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	315					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATGCTGAGATGTGTATTATGC	0.383000													81	45					0	0	1	0	0
EDEM3	80267	broad.mit.edu	37	1	184723709	184723709	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:184723709C>T	ENST00000318130.8	-	1	338	c.72G>A	c.(70-72)gcG>gcA	p.A24A		NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	24					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACGCGGCCGTCGCCGCCACTA	0.716000													29	13					0	0	1	0	0
SCIN	85477	broad.mit.edu	37	7	12662468	12662468	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr7:12662468G>A	ENST00000519209.1	+	0	334				SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000297029.5_Missense_Mutation_p.D237N|SCIN_ENST00000445618.2_De_novo_Start_OutOfFrame	NM_033128.3	NP_149119.1	Q9Y6U3	ADSV_HUMAN	scinderin						actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		AGGTGATGATGATGACATTAT	0.403000													41	133					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83984277	83984277	+	Silent	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:83984277G>T	ENST00000418306.2	-	1	46	c.22C>A	c.(22-24)Cgg>Agg	p.R8R	DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000531015.1_Silent_p.R8R|DLG2_ENST00000398301.2_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000280241.8_Intron	NM_001142700.1	NP_001136172.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTCTCAGCCCGAGAAACACTT	0.378000													2	1					0.004672	0.0047304	1	1	0
ZNF174	7727	broad.mit.edu	37	16	3452266	3452266	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:3452266C>A	ENST00000268655.4	+	1	847	c.262C>A	c.(262-264)Ctt>Att	p.L88I	ZNF174_ENST00000575752.1_Missense_Mutation_p.L88I|ZNF174_ENST00000572544.1_Missense_Mutation_p.L88I|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000571936.1_Missense_Mutation_p.L88I|ZNF174_ENST00000344823.5_Missense_Mutation_p.L88I	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	88	SCAN box.				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						GATTTTGGAGCTTCTGGTGAT	0.587000													31	108					4.74835e-14	5.11458e-14	1	1	0
KIF4B	285643	broad.mit.edu	37	5	154396820	154396820	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396820A>G	ENST00000435029.4	+	1	3561	c.3401A>G	c.(3400-3402)cAg>cGg	p.Q1134R		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1134	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTGTTGAACAGACCCAGGAT	0.542000													22	60					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117176710	117176710	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr7:117176710G>A	ENST00000003084.6	+	7	984	c.852G>A	c.(850-852)atG>atA	p.M284I	CFTR_ENST00000454343.1_Missense_Mutation_p.M284I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	284	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGGAAAAAATGATTGAAAACT	0.318000									Cystic Fibrosis				11	9					0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60578314	60578314	+	Silent	SNP	G	G	A	rs147530592		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:60578314G>A	ENST00000252996.3	-	9	2387	c.2388C>T	c.(2386-2388)ccC>ccT	p.P796P	TAF4_ENST00000488539.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	796					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GTAACACGGCGGGTTTCACCA	0.493000													25	49					0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3850986	3850986	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:3850986G>A	ENST00000309890.7	-	8	944	c.794C>T	c.(793-795)tCt>tTt	p.S265F	ATP2A3_ENST00000397035.3_Missense_Mutation_p.S265F|ATP2A3_ENST00000397043.3_Missense_Mutation_p.S265F|ATP2A3_ENST00000359983.3_Missense_Mutation_p.S265F|ATP2A3_ENST00000352011.3_Missense_Mutation_p.S265F|ATP2A3_ENST00000397041.3_Missense_Mutation_p.S265F|ATP2A3_ENST00000397039.1_5'UTR	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	265					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCAGATCACAGAGATGGCGTG	0.657000													17	33					0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64174526	64174526	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:64174526G>A	ENST00000272322.4	-	9	1390	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	VPS54_ENST00000409558.3_Silent_p.I400I|VPS54_ENST00000354504.3_Intron	NM_016516.2	NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	412					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						CCTGTTTAATGATATTCTTTG	0.244000													6	14					0	0	1	0	0
PRLHR	2834	broad.mit.edu	37	10	120354659	120354659	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:120354659G>A	ENST00000239032.2	-	2	236	c.98C>T	c.(97-99)tCg>tTg	p.S33L	PRLHR_ENST00000369169.1_Missense_Mutation_p.S33L	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	33					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GTTGCCCGCCGAGGCCTCTGC	0.677000													29	54					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36583698	36583698	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:36583698G>A	ENST00000401500.2	+	19	2353	c.2318G>A	c.(2317-2319)cGg>cAg	p.R773Q	WDR62_ENST00000270301.7_Missense_Mutation_p.R773Q	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	773					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GACAAGAAGCGGAGTGGCCAC	0.622000													70	158					0	0	1	0	0
TLDC1	57707	broad.mit.edu	37	16	84520527	84520527	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:84520527G>A	ENST00000343629.6	-	5	850	c.668C>T	c.(667-669)tCg>tTg	p.S223L	TLDC1_ENST00000535580.1_Missense_Mutation_p.S196L	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		ATCAAGAGACGAGCACAGGAT	0.552000													54	27					0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80223093	80223093	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:80223093C>T	ENST00000392959.1	-	4	1167	c.556G>A	c.(556-558)Gag>Aag	p.E186K	LCA5_ENST00000369846.4_Missense_Mutation_p.E186K|LCA5_ENST00000467898.2_Missense_Mutation_p.E186K	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	186					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		ACCCTTTTCTCAGTTGCCCGT	0.363000													6	33					0	0	1	0	0
MAGOH	4116	broad.mit.edu	37	1	53694620	53694620	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:53694620C>T	ENST00000371470.3	-	4	426	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	MAGOH_ENST00000371466.4_Missense_Mutation_p.E52K	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	89					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						ATGACGATTTCAAGCTCCTAG	0.333000													11	37					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	153982539	153982539	+	Silent	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:153982539G>T	ENST00000368559.3	-	35	4910	c.4839C>A	c.(4837-4839)ctC>ctA	p.L1613L	NUP210L_ENST00000368553.1_Silent_p.L546L|NUP210L_ENST00000271854.3_Silent_p.L1613L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1613						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GGCACAGCATGAGGGTCGCTG	0.418000													48	67					1.32667e-27	1.4761e-27	1	1	0
BCCIP	56647	broad.mit.edu	37	10	127512149	127512149	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:127512149G>T	ENST00000299130.3	+	1	35	c.23G>T	c.(22-24)cGt>cTt	p.R8L	BCCIP_ENST00000429863.2_Missense_Mutation_p.R8L|BCCIP_ENST00000278100.6_Missense_Mutation_p.R8L|BCCIP_ENST00000368759.5_Missense_Mutation_p.R8L	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	8					cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCTAAGCGGCGTGCCGTGGAA	0.612000													43	110					7.05377e-20	7.76298e-20	1	1	0
CREB3	10488	broad.mit.edu	37	9	35736716	35736716	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:35736716C>G	ENST00000353704.2	+	9	1547	c.1109C>G	c.(1108-1110)tCa>tGa	p.S370*	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	394	Pro-rich.				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		GACAGATACTCAGGCTAGATA	0.582000											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	57	112					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76797791	76797791	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:76797791C>T	ENST00000286719.7	-	11	1325	c.969G>A	c.(967-969)aaG>aaA	p.K323K		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	323	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCTTCTCACTCTTCTGTCTCG	0.512000													5	51					0	0	1	0	0
ZNF266	10781	broad.mit.edu	37	19	9525388	9525388	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:9525388G>T	ENST00000592904.1	-	5	2289	c.213C>A	c.(211-213)agC>agA	p.S71R	ZNF266_ENST00000588933.1_Missense_Mutation_p.S71R|ZNF266_ENST00000361451.2_Missense_Mutation_p.S71R|ZNF266_ENST00000592292.1_Missense_Mutation_p.S71R|ZNF266_ENST00000361151.1_Missense_Mutation_p.S71R|ZNF266_ENST00000590306.1_Missense_Mutation_p.S71R|ZNF266_ENST00000588221.1_Missense_Mutation_p.S71R			Q14584	ZN266_HUMAN	zinc finger protein 266	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						CTCCGTTGTGGCTTCCTATCT	0.408000													43	56					3.66854e-30	4.10431e-30	1	1	0
CERS4	79603	broad.mit.edu	37	19	8319401	8319401	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:8319401G>A	ENST00000558331.1	+	4	498	c.39G>A	c.(37-39)ctG>ctA	p.L13L	CERS4_ENST00000251363.5_Silent_p.L64L|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559450.1_Silent_p.L64L|CERS4_ENST00000559336.1_Silent_p.L64L			Q9HA82	CERS4_HUMAN	ceramide synthase 4	64						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GCCTGCCCCTGAGCCGGTGGC	0.617000													13	43					0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31484061	31484061	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:31484061C>T	ENST00000333137.7	+	3	380	c.162C>T	c.(160-162)ttC>ttT	p.F54F	SMTN_ENST00000358743.1_Silent_p.F54F|SMTN_ENST00000347557.2_Silent_p.F54F|SMTN_ENST00000475548.1_3'UTR	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	54					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCAAGCGTTTCCGTGCCGAGC	0.652000													10	47					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162731134	162731134	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:162731134G>C	ENST00000367922.2	+	10	1427	c.989G>C	c.(988-990)aGt>aCt	p.S330T	DDR2_ENST00000367921.3_Missense_Mutation_p.S330T	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	330					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GTCAACCCCAGTGCTCGGTTT	0.512000													10	44					0	0	1	0	0
RFC4	5984	broad.mit.edu	37	3	186507997	186507997	+	Silent	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:186507997G>C	ENST00000392481.2	-	10	1211	c.930C>G	c.(928-930)ctC>ctG	p.L310L	RFC4_ENST00000296273.2_Silent_p.L310L|RFC4_ENST00000433496.1_Silent_p.L283L	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	310					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CCACATCATGGAGTTGATTGA	0.343000													50	92					0	0	1	0	0
NPEPL1	79716	broad.mit.edu	37	20	57269534	57269534	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:57269534C>T	ENST00000356091.6	+	3	681	c.393C>T	c.(391-393)ttC>ttT	p.F131F	STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Silent_p.F83F|NPEPL1_ENST00000525967.1_Silent_p.F103F	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	131					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CCCGGGCCTTCCCGCTGTTCA	0.657000													40	88					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													4	6					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													3	50					0	0	1	0	0
TUT1	64852	broad.mit.edu	37	11	62343619	62343619	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:62343619C>T	ENST00000476907.1	-	9	2263	c.1572G>A	c.(1570-1572)ggG>ggA	p.G524G	MIR3654_ENST00000496634.2_Intron|TUT1_ENST00000308436.7_Silent_p.G562G			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	524	PAP-associated.				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AAGGCAGGCCCCCTGCCACAG	0.602000													5	39					0	0	1	0	0
CITED1	4435	broad.mit.edu	37	X	71521739	71521739	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chrX:71521739G>T	ENST00000246139.5	-	3	991	c.416C>A	c.(415-417)tCt>tAt	p.S139Y	CITED1_ENST00000431381.1_Missense_Mutation_p.S165Y|CITED1_ENST00000445983.1_Missense_Mutation_p.S139Y|CITED1_ENST00000373619.3_Missense_Mutation_p.S139Y	NM_004143.3	NP_004134.2	Q99966	CITE1_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1	139					apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			skin(1)	1	Renal(35;0.156)					GGCACCAGCAGAAGGAGAGAG	0.627000													24	21					1.96895e-08	2.0875e-08	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228881360	228881360	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:228881360C>G	ENST00000392056.3	-	7	4256	c.4210G>C	c.(4210-4212)Gaa>Caa	p.E1404Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1404Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1404						cytoplasm	protein binding	p.E1404Q(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGGAAGTTTCTTTTTTAGAA	0.448000													27	108					0	0	1	0	0
RPS6KB1	6198	broad.mit.edu	37	17	57970560	57970560	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:57970560G>A	ENST00000225577.4	+	1	36	c.15G>A	c.(13-15)agG>agA	p.R5R	RPS6KB1_ENST00000443572.2_Silent_p.R5R|RPS6KB1_ENST00000406116.3_Silent_p.R5R	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	5					apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			GGCGACGAAGGAGGCGGGACG	0.657000													6	25					0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808726	8808726	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:8808726G>A	ENST00000324436.3	-	1	446	c.326C>T	c.(325-327)aCg>aTg	p.T109M		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	109						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TTGCACCAGCGTCAGCTCTGG	0.701000													20	37					0	0	1	0	0
SEPT4	5414	broad.mit.edu	37	17	56604060	56604060	+	Translation_Start_Site	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:56604060G>C	ENST00000583114.1	-	0	435				SEPT4_ENST00000412945.3_Missense_Mutation_p.P106A|SEPT4_ENST00000393086.1_Missense_Mutation_p.P95A|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000317256.6_Missense_Mutation_p.P95A|SEPT4_ENST00000580791.1_5'UTR|SEPT4_ENST00000580809.1_Intron|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000580844.1_Intron|SEPT4_ENST00000317268.3_Missense_Mutation_p.P114A|SEPT4_ENST00000426861.1_Missense_Mutation_p.P95A|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000457347.2_Missense_Mutation_p.P129A|RP11-112H10.4_ENST00000580589.1_RNA	NM_001256822.1	NP_001243751.1	O43236	SEPT4_HUMAN	septin 4						apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAATCATAGGGATCAAGCTTG	0.637000													7	98					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33659398	33659398	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:33659398C>A	ENST00000374316.5	+	54	8292	c.7232C>A	c.(7231-7233)cCc>cAc	p.P2411H	ITPR3_ENST00000605930.1_Missense_Mutation_p.P2411H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2411					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CCAGCCAGCCCCCTGGGGATG	0.597000													24	15					5.35356e-11	5.70577e-11	1	1	0
CTBP2	1488	broad.mit.edu	37	10	126715679	126715679	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:126715679C>T	ENST00000309035.6	-	1	780	c.650G>A	c.(649-651)aGa>aAa	p.R217K	CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000494626.2_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GTCAATGGGTCTTTCGCTGAT	0.677000													36	67					0	0	1	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140616093	140616093	+	RNA	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:140616093C>A	ENST00000526308.1	+	0	2156					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						TCGGCCACCGCCACGCTGCAC	0.711000													36	19					1.15183e-24	1.27457e-24	1	1	0
ZNF682	91120	broad.mit.edu	37	19	20117530	20117530	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:20117530C>G	ENST00000397165.2	-	4	941	c.781G>C	c.(781-783)Gaa>Caa	p.E261Q	ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.E185Q|ZNF682_ENST00000397162.1_Missense_Mutation_p.E229Q|ZNF682_ENST00000358523.5_Missense_Mutation_p.E229Q|ZNF682_ENST00000597972.1_Missense_Mutation_p.E267Q	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTTCCACATTCTTCACATTTG	0.393000													13	46					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936013	178936013	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:178936013A>G	ENST00000263967.3	+	10	1712	c.1555A>G	c.(1555-1557)Aga>Gga	p.R519G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	519					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CAGACTAGCTAGAGACAATGA	0.333000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			16	31					0	0	1	0	0
OTUB1	55611	broad.mit.edu	37	11	63764862	63764862	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:63764862C>T	ENST00000541478.1	+	4	817	c.357C>T	c.(355-357)atC>atT	p.I119I	OTUB1_ENST00000538426.1_Silent_p.I220I|OTUB1_ENST00000543004.1_Silent_p.I229I|OTUB1_ENST00000543988.1_Silent_p.I190I|OTUB1_ENST00000422031.2_Silent_p.I257I|OTUB1_ENST00000428192.2_Silent_p.I220I|OTUB1_ENST00000535715.1_Silent_p.I220I			Q96FW1	OTUB1_HUMAN	OTU domain, ubiquitin aldehyde binding 1	220	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						ACATCCACATCATTGCGCTGG	0.682000													24	81					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833210	61833210	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:61833210G>T	ENST00000280772.1	-	37	7620	c.7429C>A	c.(7429-7431)Cat>Aat	p.H2477N	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2477					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTATCAGAATGAGACACATCT	0.463000													26	58					1.04121e-07	1.10102e-07	1	1	0
FIG4	9896	broad.mit.edu	37	6	110112691	110112691	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:110112691G>C	ENST00000230124.3	+	20	2417	c.2293G>C	c.(2293-2295)Gat>Cat	p.D765H	FIG4_ENST00000441478.2_Missense_Mutation_p.D488H	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	765					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CTCTGGGACTGATCGGGAAGA	0.612000													51	67					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142638423	142638423	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr7:142638423G>A	ENST00000355265.2	-	19	2589	c.2115C>T	c.(2113-2115)ctC>ctT	p.L705L		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	705					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGGTGCTGCTGAGGGGCCCGT	0.597000													56	54					0	0	1	0	0
FAM101A	144347	broad.mit.edu	37	12	124796441	124796441	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:124796441C>T	ENST00000389727.3	+	2	285	c.285C>T	c.(283-285)atC>atT	p.I95I	RP11-522N14.1_ENST00000540762.1_RNA|FAM101A_ENST00000546355.1_Silent_p.I14I|FAM101A_ENST00000324038.3_Silent_p.I14I|FAM101A_ENST00000338359.4_Silent_p.I14I			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	95										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GGGAGAGCATCAAGGTGAACC	0.662000													10	22					0	0	1	0	0
ZNF582	147948	broad.mit.edu	37	19	56896032	56896032	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:56896032C>T	ENST00000301310.4	-	5	912	c.754G>A	c.(754-756)Gag>Aag	p.E252K	ZNF582_ENST00000586929.1_Missense_Mutation_p.E252K	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TACGGTTTCTCACCAGTATGA	0.393000													5	23					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16552615	16552615	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:16552615G>A	ENST00000380672.4	-	5	639	c.582C>T	c.(580-582)ttC>ttT	p.F194F	BNC2_ENST00000545497.1_Silent_p.F99F|BNC2_ENST00000380667.2_Silent_p.F127F|BNC2_ENST00000380666.2_Silent_p.F194F	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCAGGACGCTGAAGAGACGGT	0.552000													20	25					0	0	1	0	0
PARPBP	55010	broad.mit.edu	37	12	102542110	102542110	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:102542110G>A	ENST00000327680.2	+	4	476	c.13G>A	c.(13-15)Gac>Aac	p.D5N	PARPBP_ENST00000358383.5_Missense_Mutation_p.D86N|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000541394.1_Missense_Mutation_p.D86N|PARPBP_ENST00000537257.1_Missense_Mutation_p.D86N|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000392911.2_Missense_Mutation_p.D5N|PARPBP_ENST00000378128.3_Missense_Mutation_p.D86N	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	86					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding			endometrium(1)|lung(8)|urinary_tract(2)	11						GGACGTGACTGACCATTATGA	0.353000													13	48					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24480736	24480736	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:24480736G>A	ENST00000398319.2	+	21	3500	c.3115G>A	c.(3115-3117)Gag>Aag	p.E1039K	CABIN1_ENST00000405822.2_Missense_Mutation_p.E989K|CABIN1_ENST00000263119.5_Missense_Mutation_p.E1039K	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1039					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AACTTCAACTGAGGTGGGCCC	0.552000													12	37					0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52090536	52090536	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:52090536C>A	ENST00000262259.2	+	5	1310	c.952C>A	c.(952-954)Cca>Aca	p.P318T	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	318					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		AGCCTTCATGCCACAACTAAA	0.433000													6	89					5.9392e-07	6.21544e-07	1	1	0
PCDHA8	56140	broad.mit.edu	37	5	140222595	140222595	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:140222595G>A	ENST00000531613.1	+	1	1689	c.1689G>A	c.(1687-1689)ccG>ccA	p.P563P	PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.P563P|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACGCGCCGGCACTGCTGG	0.706000													7	97					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934355	113934355	+	Silent	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:113934355C>A	ENST00000335953.4	+	2	713	c.333C>A	c.(331-333)atC>atA	p.I111I	ZBTB16_ENST00000392996.2_Silent_p.I111I	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	111					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TCCTGGAGATCGAGTACCTGG	0.592000													19	9					7.45023e-12	7.98238e-12	1	1	0
PET112	5188	broad.mit.edu	37	4	152593947	152593947	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:152593947G>A	ENST00000263985.6	-	12	1552	c.1512C>T	c.(1510-1512)ctC>ctT	p.L504L	PET112_ENST00000507592.1_5'UTR|PET112_ENST00000515812.1_Silent_p.L463L	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	504						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAGAGTGGCAGAGCTGCTCCA	0.587000													15	55					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396893	154396893	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396893C>T	ENST00000435029.4	+	1	3634	c.3474C>T	c.(3472-3474)aaC>aaT	p.N1158N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1158	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTTCTTTAACCCTGTCTGTG	0.532000													5	66					0	0	1	0	0
TRGV5	6978	broad.mit.edu	37	7	38389467	38389467	+	RNA	SNP	G	G	A	rs28527371	by1000genomes	TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr7:38389467G>A	ENST00000390344.2	-	0	156																											GACCAGATGAGGAGGAGCAGA	0.562000													4	58					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205039111	205039111	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:205039111G>A	ENST00000331830.4	+	18	2637	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	785	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACGCCCTTTGAGGTCAAGAT	0.667000													40	109					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7668891	7668891	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:7668891G>A	ENST00000507866.2	+	8	1221	c.1112G>A	c.(1111-1113)cGt>cAt	p.R371H	SORCS2_ENST00000329016.9_Missense_Mutation_p.R199H	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	371						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GTCTCTTATCGTCGAAATGAA	0.488000													49	143					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42208615	42208615	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:42208615G>C	ENST00000373100.1	+	13	1313	c.853G>C	c.(853-855)Gag>Cag	p.E285Q	SGK2_ENST00000373092.3_Missense_Mutation_p.E285Q|SGK2_ENST00000341458.4_Missense_Mutation_p.E345Q|SGK2_ENST00000423407.3_Missense_Mutation_p.E285Q|SGK2_ENST00000373077.1_Missense_Mutation_p.E284Q|SGK2_ENST00000426287.1_Missense_Mutation_p.E311Q			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	345	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCTGCAGCTTGAGATTAAGAA	0.502000													19	46					0	0	1	0	0
NMRAL1	57407	broad.mit.edu	37	16	4519347	4519347	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:4519347C>T	ENST00000574733.1	-	3	889	c.160G>A	c.(160-162)Gta>Ata	p.V54I	NMRAL1_ENST00000404295.3_Missense_Mutation_p.V54I|NMRAL1_ENST00000574425.1_Missense_Mutation_p.V54I|NMRAL1_ENST00000283429.6_Missense_Mutation_p.V54I|NMRAL1_ENST00000572391.1_Intron			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	54						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CCCTGCACTACTTCTGCACCT	0.567000													72	244					0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169659175	169659175	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:169659175G>C	ENST00000444448.2	+	3	495	c.19G>C	c.(19-21)Gat>Cat	p.D7H	NOSTRIN_ENST00000397206.2_5'UTR|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.D7H|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.D7H|NOSTRIN_ENST00000445023.2_5'UTR|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.D7H|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.D7H			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	7	FCH.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CCCACTGACAGATTGTCCGGT	0.468000													10	24					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412282	139412282	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:139412282C>T	ENST00000277541.6	-	8	1438	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	455	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GAGACGCACTCGTTGACGTCG	0.667000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			65	48					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25966688	25966688	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:25966688G>C	ENST00000435504.4	-	13	2811	c.2518C>G	c.(2518-2520)Cta>Gta	p.L840V	ASXL2_ENST00000336112.4_Missense_Mutation_p.L812V|ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000404843.1_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	840					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGAGATTAGAGCAGGACCT	0.522000													47	110					0	0	1	0	0
DAW1	164781	broad.mit.edu	37	2	228755971	228755971	+	Splice_Site	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:228755971G>T	ENST00000373666.2	+	4	895	c.258_splice	c.e4-1	p.V87_splice	DAW1_ENST00000545118.1_Splice_Site_p.V72_splice|DAW1_ENST00000472604.1_3'UTR|DAW1_ENST00000309931.2_Splice_Site_p.V87_splice					dynein assembly factor with WDR repeat domains 1																		TTCACTGAAGGTTCTCAAAGC	0.294000													15	67					5.35267e-07	5.63073e-07	1	1	0
DCAF4	26094	broad.mit.edu	37	14	73412678	73412678	+	Silent	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:73412678G>T	ENST00000553457.1	+	6	611	c.321G>T	c.(319-321)ctG>ctT	p.L107L	DCAF4_ENST00000394234.2_Silent_p.L107L|DCAF4_ENST00000358377.2_Silent_p.L207L|DCAF4_ENST00000509153.1_Silent_p.L146L|DCAF4_ENST00000353777.3_Silent_p.L146L|DCAF4_ENST00000555042.1_Silent_p.L207L			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	207						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TGCAAAGTCTGAAGACCCCTA	0.512000													177	245					3.89164e-85	4.39029e-85	1	1	0
C11orf82	220042	broad.mit.edu	37	11	82643899	82643899	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:82643899G>T	ENST00000533655.1	+	6	1731	c.1519G>T	c.(1519-1521)Gtt>Ttt	p.V507F	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.V507F|C11orf82_ENST00000329143.3_Missense_Mutation_p.V206F|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	507					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AAGTCCTAGTGTTGAAAAGGA	0.358000													17	8					4.7546e-09	5.05411e-09	1	1	0
C7orf10	79783	broad.mit.edu	37	7	40498797	40498797	+	Splice_Site	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr7:40498797G>T	ENST00000309930.5	+	11	1031	c.1007_splice	c.e11+1	p.R336_splice	C7orf10_ENST00000335693.4_Splice_Site_p.R336_splice|C7orf10_ENST00000401647.2_Splice_Site_p.R288_splice	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	336			R -> W (in GA3; healthy individuals who have abnormal quantities of glutaric acid but low 3-hydroxyglutaric acid).				transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TTATCTGAACGGTAAGTTTGG	0.294000													7	36					2.0095e-06	2.09215e-06	1	1	0
OGDHL	55753	broad.mit.edu	37	10	50955215	50955215	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:50955215C>G	ENST00000374103.4	-	9	1112	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	OGDHL_ENST00000432695.1_Missense_Mutation_p.E134Q|OGDHL_ENST00000419399.1_Missense_Mutation_p.E286Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	343					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTGATCCTCTCATGGTACATG	0.582000													30	66					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101944607	101944607	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:101944607T>C	ENST00000251127.6	-	8	991	c.910A>G	c.(910-912)Act>Gct	p.T304A	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.T304A	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	304						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAATGAGAGTGATGAAATAG	0.453000													20	25					0	0	1	0	0
CYP2A6	1548	broad.mit.edu	37	19	41354558	41354558	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:41354558C>T	ENST00000301141.5	-	3	474	c.454G>A	c.(454-456)Gag>Aag	p.E152K	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	152					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	AAGCCCGCCTCCTCCTGGATG	0.701000													15	85					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62289261	62289261	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:62289261G>A	ENST00000519846.1	+	4	1025	c.553G>A	c.(553-555)Gac>Aac	p.D185N	CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.D185N			Q8IUQ0	CLVS1_HUMAN	clavesin 1	185	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TTTAATTATAGACTGGAGTAA	0.423000													26	79					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43469794	43469794	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:43469794C>A	ENST00000282041.5	-	28	4955	c.4921G>T	c.(4921-4923)Gaa>Taa	p.E1641*	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1641					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ACAGCAGCTTCCACAATATTA	0.373000													4	48					1.23904e-05	1.2834e-05	1	1	0
SYCP2	10388	broad.mit.edu	37	20	58457211	58457211	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:58457211G>A	ENST00000357552.3	-	27	2764	c.2539C>T	c.(2539-2541)Cag>Tag	p.Q847*	SYCP2_ENST00000371001.2_Nonsense_Mutation_p.Q847*			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	847					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTTTTTTTCTGAACTTTTTcc	0.279000													4	12					0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23437907	23437907	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:23437907G>A	ENST00000248996.4	+	2	691	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	9						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AAGCTCAGAGGAAAAAGAAGC	0.642000													22	49					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102297127	102297127	+	RNA	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:102297127C>T	ENST00000561463.1	+	0	5173																											AGAAGACACTCGTGGAGGCGT	0.607000													3	9					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15639277	15639277	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:15639277C>T	ENST00000378076.3	-	21	2493	c.2140G>A	c.(2140-2142)Gag>Aag	p.E714K	ITGA8_ENST00000477064.1_5'UTR	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	714					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATCTTGTACTCACAGCTCAGT	0.478000													55	58					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33577935	33577935	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:33577935C>T	ENST00000262873.7	+	19	2104	c.2012C>T	c.(2011-2013)gCg>gTg	p.A671V		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	629	Actin-binding (By similarity).|Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity	p.A671V(2)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGAATTATGCGGGCTCCTGC	0.547000													4	139					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72374783	72374783	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:72374783C>T	ENST00000001146.2	-	1	384	c.181G>A	c.(181-183)Gag>Aag	p.E61K	CYP26B1_ENST00000546307.1_Missense_Mutation_p.E61K	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	61					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TGGCCGGTCTCTCCGATGAGC	0.721000													5	26					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7046047	7046047	+	Silent	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:7046047G>C	ENST00000356654.4	+	5	1854	c.1617G>C	c.(1615-1617)ctG>ctC	p.L539L	ATN1_ENST00000396684.2_Silent_p.L539L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	539	Involved in binding BAIAP2.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGGGGTCTCTGAGGCCCTACC	0.657000													93	116					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155764859	155764859	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:155764859G>A	ENST00000437809.1	-	12	1851	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.R577W|GON4L_ENST00000368331.1_Missense_Mutation_p.R577W|GON4L_ENST00000271883.5_Missense_Mutation_p.R577W			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	577					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCACTGCCCGGTCAGTCCGG	0.423000													18	46					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851927	14851927	+	Silent	SNP	T	T	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:14851927T>A	ENST00000358984.4	+	36	3807	c.3627T>A	c.(3625-3627)gcT>gcA	p.A1209A		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1294										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CAGGAGATGCTCCTTTGCAAG	0.393000													11	9					0	0	1	0	0
ATG4D	84971	broad.mit.edu	37	19	10663602	10663602	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:10663602C>T	ENST00000309469.4	+	10	1457	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	ATG4D_ENST00000540862.1_Silent_p.F95F	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	428					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ACCCCATGTTCACCCTGGCCG	0.652000													37	107					0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204326586	204326586	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:204326586C>T	ENST00000319170.5	-	5	1094	c.795G>A	c.(793-795)gaG>gaA	p.E265E	RAPH1_ENST00000457812.1_Silent_p.E265E|RAPH1_ENST00000453034.1_Silent_p.E317E|RAPH1_ENST00000439222.1_Silent_p.E290E|RAPH1_ENST00000374489.2_Silent_p.E292E|RAPH1_ENST00000419464.1_Silent_p.E265E|RAPH1_ENST00000374488.2_Silent_p.E290E|RAPH1_ENST00000423104.1_Silent_p.E292E|RAPH1_ENST00000374493.3_Silent_p.E317E|RAPH1_ENST00000308091.4_Silent_p.E317E|RAPH1_ENST00000418114.1_Silent_p.E265E	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	265					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCACTTGTGCCTCTTTAATTT	0.368000													4	73					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71341787	71341787	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:71341787G>A	ENST00000260382.5	+	16	2157	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	LRRC49_ENST00000560158.2_Missense_Mutation_p.E321K|LRRC49_ENST00000544974.2_Missense_Mutation_p.E623K|LRRC49_ENST00000443425.2_Missense_Mutation_p.E589K|LRRC49_ENST00000560369.1_Missense_Mutation_p.E638K|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560691.1_Missense_Mutation_p.E339K	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	633						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AACATATATAGAAGACCTTGT	0.333000													23	31					0	0	1	0	0
CASP2	835	broad.mit.edu	37	7	142989429	142989429	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr7:142989429C>T	ENST00000310447.5	+	3	503	c.262C>T	c.(262-264)Ctc>Ttc	p.L88F	CASP2_ENST00000392925.2_Missense_Mutation_p.L88F|CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	88	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					TGTGGAACTCCTCAACTTGCT	0.458000													44	42					0	0	1	0	0
PROP1	5626	broad.mit.edu	37	5	177420034	177420034	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:177420034G>A	ENST00000308304.2	-	3	665	c.357C>T	c.(355-357)aaC>aaT	p.N119N		NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	119					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGCTCTGCGGTTCTGGAACC	0.562000													8	13					0	0	1	0	0
ZNF486	90649	broad.mit.edu	37	19	20308487	20308487	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:20308487C>T	ENST00000335117.8	+	4	1025	c.968C>T	c.(967-969)aCg>aTg	p.T323M	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AAACCGTACACGTGTGATAAA	0.393000													10	45					0	0	1	0	0
SLC35E2B	728661	broad.mit.edu	37	1	1606915	1606915	+	Silent	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:1606915C>A	ENST00000378662.1	-	5	1333	c.573G>T	c.(571-573)ctG>ctT	p.L191L	SLC35E2B_ENST00000234800.6_Silent_p.L191L			P0CK96	S352B_HUMAN	solute carrier family 35, member E2B	191						integral to membrane				kidney(1)|lung(1)	2						TGTACTCCCCCAGAATCATCC	0.632000													4	8					0.00198382	0.00201871	1	1	0
PAK1	5058	broad.mit.edu	37	11	77048372	77048372	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:77048372G>T	ENST00000356341.3	-	12	1744	c.1213C>A	c.(1213-1215)Cta>Ata	p.L405I	PAK1_ENST00000530617.1_Missense_Mutation_p.L405I|PAK1_ENST00000278568.4_Missense_Mutation_p.L405I|PAK1_ENST00000528203.1_Missense_Mutation_p.L307I|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	405	Protein kinase.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					TACTTACTTAGCTTGACAGAG	0.453000													12	4					2.27111e-07	2.39531e-07	1	1	0
ZNF835	90485	broad.mit.edu	37	19	57176108	57176108	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:57176108C>T	ENST00000537055.2	-	2	690	c.459G>A	c.(457-459)ctG>ctA	p.L153L		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGTGCAGGGTCAGGTGCACGC	0.647000													25	73					0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144359510	144359510	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:144359510C>G	ENST00000262995.4	+	4	1379	c.952C>G	c.(952-954)Cag>Gag	p.Q318E	GAB1_ENST00000505913.1_Missense_Mutation_p.Q215E|GAB1_ENST00000262994.4_Missense_Mutation_p.Q318E	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	318					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TAATACTTATCAGATTCCACG	0.438000													15	46					0	0	1	0	0
HDAC1	3065	broad.mit.edu	37	1	32797098	32797098	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:32797098G>A	ENST00000373548.3	+	10	1087	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	HDAC1_ENST00000490081.1_3'UTR|HDAC1_ENST00000373541.2_Missense_Mutation_p.E142K	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	335					anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	TGACTACTTTGAATACTTTGG	0.468000													28	46					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40045370	40045370	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:40045370G>A	ENST00000373233.3	-	33	6521	c.6344C>T	c.(6343-6345)tCt>tTt	p.S2115F		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2115					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)				CTGCTGGCTAGAGGGCCACTT	0.517000													10	20					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180397135	180397135	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:180397135C>T	ENST00000273654.4	-	7	905	c.286G>A	c.(286-288)Gag>Aag	p.E96K	CCDC39_ENST00000442201.2_Missense_Mutation_p.E12K			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	12					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AACCCATCCTCCCAGTGCAGC	0.547000													138	254					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309366	248309366	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:248309366G>C	ENST00000366476.1	+	1	917	c.917G>C	c.(916-918)gGa>gCa	p.G306A		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			AAAGTGTTAGGAAAGGGCAAG	0.438000													7	30					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9187469	9187469	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:9187469G>C	ENST00000328194.3	-	11	2517	c.2197C>G	c.(2197-2199)Ccc>Gcc	p.P733A	DENND5A_ENST00000530044.1_Missense_Mutation_p.P733A|DENND5A_ENST00000527700.1_Missense_Mutation_p.P76A	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	733										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GACAGTTTGGGCTGGCGGATA	0.468000													32	59					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	171220	171220	+	Silent	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:171220C>G	ENST00000283426.6	+	13	2774	c.2724C>G	c.(2722-2724)ctC>ctG	p.L908L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	908	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		ATGCCCTGCTCAGCAGCCATG	0.632000													27	31					0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172641936	172641936	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:172641936G>A	ENST00000422440.2	-	18	1922	c.1885C>T	c.(1885-1887)Cct>Tct	p.P629S	SLC25A12_ENST00000392592.4_Missense_Mutation_p.P522S	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	629					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TTGGCAGGAGGAAGGTCTGCA	0.493000													34	112					0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													4	73					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396626	154396626	+	Silent	SNP	T	T	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396626T>C	ENST00000435029.4	+	1	3367	c.3207T>C	c.(3205-3207)gaT>gaC	p.D1069D		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1069	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGGGGGATGATGAGGAATGGA	0.483000													6	31					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57762435	57762435	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:57762435G>A	ENST00000269122.3	+	29	4727	c.4453G>A	c.(4453-4455)Gat>Aat	p.D1485N	CLTC_ENST00000579456.1_Missense_Mutation_p.D422N|CLTC_ENST00000393043.1_Missense_Mutation_p.D1485N	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1485	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AACATCAATAGATGCTTATGA	0.373000			T	"""ALK, TFE3"""	"""ALCL, renal """								27	109					0	0	1	0	0
STRADA	92335	broad.mit.edu	37	17	61791450	61791450	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:61791450C>G	ENST00000392950.4	-	3	304	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	STRADA_ENST00000245865.5_5'UTR|STRADA_ENST00000582137.1_Missense_Mutation_p.E19Q|STRADA_ENST00000580039.1_Intron|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000447001.3_Intron|STRADA_ENST00000579340.1_5'UTR|STRADA_ENST00000375840.4_5'UTR|STRADA_ENST00000336174.6_Missense_Mutation_p.E48Q	NM_001003786.2|NM_001165969.1|NM_153335.5	NP_001003786.1|NP_001159441.1|NP_699166.2	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	48					activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						GCTATTGACTCTGAGCTCGCA	0.483000													32	117					0	0	1	0	0
AMD1	262	broad.mit.edu	37	6	111210179	111210179	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:111210179C>G	ENST00000368885.3	+	3	653	c.317C>G	c.(316-318)tCa>tGa	p.S106*	AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368877.5_Nonsense_Mutation_p.S77*|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368876.1_Nonsense_Mutation_p.S37*	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	106					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GGGTTTGACTCAATTCAAGTA	0.368000													38	48					0	0	1	0	0
C11orf24	53838	broad.mit.edu	37	11	68030356	68030356	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:68030356C>G	ENST00000304271.6	-	4	509	c.107G>C	c.(106-108)gGa>gCa	p.G36A	C11orf24_ENST00000533310.1_Missense_Mutation_p.G36A|C11orf24_ENST00000530166.1_5'UTR	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	36						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						CTTGACTAATCCCTTCCACAT	0.433000													19	130					0	0	1	0	0
GNA13	10672	broad.mit.edu	37	17	63010817	63010817	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:63010817T>A	ENST00000439174.2	-	4	937	c.692A>T	c.(691-693)aAa>aTa	p.K231I	GNA13_ENST00000541118.1_Missense_Mutation_p.K136I	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	231					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						AAACCAACGTTTCCTTTCTGA	0.408000													39	76					0	0	1	0	0
GAS2L1	10634	broad.mit.edu	37	22	29708410	29708410	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:29708410C>G	ENST00000406549.3	+	6	1439	c.1289C>G	c.(1288-1290)tCc>tGc	p.S430C	GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	657					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CGCCGCCCCTCCGGACCCGCA	0.667000													15	63					0	0	1	0	0
UCMA	221044	broad.mit.edu	37	10	13275760	13275760	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:13275760C>T	ENST00000378681.3	-	2	171	c.99G>A	c.(97-99)caG>caA	p.Q33Q	UCMA_ENST00000463405.2_Intron	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	33						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						CTCCCGCCATCTGCATGGTGC	0.647000													91	89					0	0	1	0	0
CSRNP2	81566	broad.mit.edu	37	12	51467696	51467696	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:51467696G>A	ENST00000228515.1	-	3	618	c.321C>T	c.(319-321)ctC>ctT	p.L107L		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	107					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						CAAACTCACAGAGTGTATAGC	0.537000													37	68					0	0	1	0	0
SEMA4F	10505	broad.mit.edu	37	2	74881556	74881556	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:74881556C>T	ENST00000357877.2	+	1	202	c.53C>T	c.(52-54)tCg>tTg	p.S18L	SEMA4F_ENST00000339773.5_Missense_Mutation_p.S18L	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	18					cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CCTACAGCCTCGCCCTTCCCG	0.731000													5	6					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396704	154396704	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396704G>A	ENST00000435029.4	+	1	3445	c.3285G>A	c.(3283-3285)ggG>ggA	p.G1095G		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1095	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTGGTGTGGGAACAAGCAGT	0.532000													9	34					0	0	1	0	0
LOC644669	644669	broad.mit.edu	37	18	15316720	15316720	+	RNA	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:15316720C>G	ENST00000455308.2	-	0	703					NR_027417.1																						GGTGTTCTTTCTGCCAAGGGT	0.418000													4	8					0	0	1	0	0
ASB1	51665	broad.mit.edu	37	2	239353338	239353338	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:239353338G>A	ENST00000264607.4	+	4	1097	c.850G>A	c.(850-852)Gag>Aag	p.E284K	ASB1_ENST00000409297.1_Missense_Mutation_p.E183K	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	284					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		AGTGGACCCTGAGGCCTTGCA	0.493000													55	62					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815627	158815627	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:158815627G>A	ENST00000368141.4	+	5	1082	c.821G>A	c.(820-822)tGt>tAt	p.C274Y		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	274	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TACTCTGAATGTAAAGGAGTA	0.343000													4	51					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396756	154396756	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396756A>T	ENST00000435029.4	+	1	3497	c.3337A>T	c.(3337-3339)Agc>Tgc	p.S1113C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1113	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGTGGACTGTAGCTGTGACCC	0.552000													14	56					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1592121	1592121	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:1592121G>C	ENST00000279477.7	-	2	379	c.315C>G	c.(313-315)atC>atG	p.I105M	SIRPB1_ENST00000568365.1_Missense_Mutation_p.I105M|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	105	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TACTGATGCGGATGGAAAAGT	0.512000													51	34					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14023231	14023231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:14023231G>A	ENST00000318003.7	+	3	533	c.292G>A	c.(292-294)Gag>Aag	p.E98K	CC2D1A_ENST00000589606.1_Missense_Mutation_p.E98K	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	98					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGACGACTTGGAGGCTGATGA	0.627000													13	23					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390379	158390379	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:158390379G>C	ENST00000314902.2	-	1	277	c.278C>G	c.(277-279)tCt>tGt	p.S93C		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S93Y(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GCCCAGGAAAGAAATGGTCTT	0.478000													68	51					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191927	152191927	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:152191927G>A	ENST00000368801.2	-	3	2253	c.2178C>T	c.(2176-2178)taC>taT	p.Y726Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	726					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGTTTTCTGTAGCCGGAGG	0.552000													21	290					0	0	1	0	0
JUNB	3726	broad.mit.edu	37	19	12903392	12903392	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:12903392C>G	ENST00000302754.4	+	1	1083	c.807C>G	c.(805-807)atC>atG	p.I269M		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	269						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						AAGAGCGCATCAAAGTGGAGC	0.682000													3	6					0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144359528	144359528	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:144359528C>G	ENST00000262995.4	+	4	1397	c.970C>G	c.(970-972)Cca>Gca	p.P324A	GAB1_ENST00000505913.1_Missense_Mutation_p.P221A|GAB1_ENST00000262994.4_Missense_Mutation_p.P324A	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	324					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					ACGAACATTTCCAGAAGGAAC	0.453000													19	47					0	0	1	0	0
OSTF1	26578	broad.mit.edu	37	9	77755829	77755829	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:77755829G>A	ENST00000346234.6	+	9	717	c.567G>A	c.(565-567)ctG>ctA	p.L189L		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	189					ossification|signal transduction	cytoplasm	identical protein binding			endometrium(1)|skin(1)	2						CATCTCTCCTGAAAAAGAAAC	0.403000													42	25					0	0	1	0	0
BORA	79866	broad.mit.edu	37	13	73305435	73305435	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:73305435G>C	ENST00000390667.5	+	3	267	c.170G>C	c.(169-171)aGa>aCa	p.R57T	BORA_ENST00000377815.3_Intron|BORA_ENST00000464754.1_3'UTR	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	57					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding										GGGAAATTTAGATGGTCTATT	0.323000													17	98					0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124664957	124664957	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:124664957C>T	ENST00000325995.7	-	1	233	c.210G>A	c.(208-210)aaG>aaA	p.K70K	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	70	BTB.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGGCTTCACTCTTCTCCCGGA	0.597000													43	94					0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6975200	6975200	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:6975200G>A	ENST00000229268.8	+	20	2588	c.2536G>A	c.(2536-2538)Gac>Aac	p.D846N	USP5_ENST00000389231.5_Missense_Mutation_p.D823N	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	846					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GCCGCCCAAGGACCTGGGCTA	0.542000													14	94					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7809901	7809901	+	Silent	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:7809901G>T	ENST00000380358.4	+	29	4567	c.4566G>T	c.(4564-4566)ctG>ctT	p.L1522L	CHD3_ENST00000330494.7_Silent_p.L1463L|CHD3_ENST00000358181.4_Silent_p.L1463L	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1463					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGCGCCATCTGTGTGAGCCTG	0.607000													43	111					8.20599e-20	8.98223e-20	1	1	0
SCNN1D	6339	broad.mit.edu	37	1	1226642	1226642	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:1226642G>A	ENST00000338555.2	+	15	2713	c.1569G>A	c.(1567-1569)caG>caA	p.Q523Q	SCNN1D_ENST00000379116.5_Silent_p.Q687Q|SCNN1D_ENST00000400928.3_Silent_p.Q523Q|SCNN1D_ENST00000325425.8_Silent_p.Q589Q					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		AGGTGCCGCAGCTGCTCTCGG	0.716000													8	7					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72345099	72345099	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:72345099G>C	ENST00000299687.5	+	1	2124	c.2124G>C	c.(2122-2124)aaG>aaC	p.K708N	ZNF407_ENST00000582337.1_Missense_Mutation_p.K708N|ZNF407_ENST00000309902.6_Missense_Mutation_p.K708N|ZNF407_ENST00000577538.1_Missense_Mutation_p.K708N	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTCAGTGTAAGAAGTGTTTTT	0.393000													7	21					0	0	1	0	0
CPEB3	22849	broad.mit.edu	37	10	93940750	93940750	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:93940750G>A	ENST00000412050.4	-	4	1211	c.1123C>T	c.(1123-1125)Cca>Tca	p.P375S	CPEB3_ENST00000265997.4_Missense_Mutation_p.P398S	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	398							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				TCTGTTCCTGGATGATGGAAA	0.274000													5	27					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370703	35370703	+	Silent	SNP	A	A	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:35370703A>G	ENST00000373347.1	-	3	550	c.282T>C	c.(280-282)ccT>ccC	p.P94P	DLGAP3_ENST00000235180.4_Silent_p.P94P			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	94					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGCCCTGGCCAGGGTACATCC	0.687000													4	7					0	0	1	0	0
RPA1	6117	broad.mit.edu	37	17	1747901	1747901	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:1747901C>T	ENST00000254719.5	+	4	303	c.193C>T	c.(193-195)Ctc>Ttc	p.L65F		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	65					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						GTTGAACCCTCTCGTGGAGGA	0.433000								Nucleotide excision repair (NER)					5	24					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37632996	37632996	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr21:37632996C>T	ENST00000399151.3	+	24	5366	c.5281C>T	c.(5281-5283)Cct>Tct	p.P1761S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1761					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGTGGACATTCCTGTGTTGCA	0.393000													5	59					0	0	1	0	0
WISP2	8839	broad.mit.edu	37	20	43355740	43355740	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:43355740C>A	ENST00000372868.2	+	5	888	c.545C>A	c.(544-546)tCt>tAt	p.S182Y	RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000372865.4_Missense_Mutation_p.L100M|WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000190983.4_Missense_Mutation_p.S182Y|RP11-445H22.4_ENST00000427303.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	182					cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CCCCAGTTTTCTGGCCTTGTC	0.642000													45	92					6.21074e-16	6.72554e-16	1	1	0
PUM1	9698	broad.mit.edu	37	1	31426564	31426564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:31426564G>A	ENST00000373747.3	-	15	2690	c.2591C>T	c.(2590-2592)tCc>tTc	p.S864F	PUM1_ENST00000257075.5_Missense_Mutation_p.S863F|PUM1_ENST00000426105.2_Missense_Mutation_p.S863F|PUM1_ENST00000440538.2_Missense_Mutation_p.S837F|PUM1_ENST00000424085.2_Missense_Mutation_p.S621F|PUM1_ENST00000423018.2_Missense_Mutation_p.S719F|PUM1_ENST00000373741.4_Missense_Mutation_p.S899F|PUM1_ENST00000373742.2_Missense_Mutation_p.S804F	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	863	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TACTCACCTGGACCCATGCTG	0.428000													18	140					0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170428925	170428925	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:170428925C>T	ENST00000439128.2	-	20	2408	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	NEK1_ENST00000511633.1_Missense_Mutation_p.E574K|NEK1_ENST00000512193.1_Missense_Mutation_p.E521K|NEK1_ENST00000507142.1_Missense_Mutation_p.E618K|NEK1_ENST00000510533.1_Missense_Mutation_p.E546K	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	590					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCTTGTCCTTCAGAATGATTA	0.348000													16	23					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396309	154396309	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396309C>A	ENST00000435029.4	+	1	3050	c.2890C>A	c.(2890-2892)Cag>Aag	p.Q964K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	964	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAGCACACTGCAGTGTCAGGA	0.468000													6	91					0.00621372	0.0062757	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63269276	63269276	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:63269276G>T	ENST00000322893.7	-	9	1861	c.1593C>A	c.(1591-1593)gaC>gaA	p.D531E	KCNH5_ENST00000420622.2_Missense_Mutation_p.D531E|KCNH5_ENST00000394968.1_Missense_Mutation_p.D473E	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	531					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CAGCTCTCATGTCCTTGGGAC	0.458000													41	34					4.32679e-17	4.69799e-17	1	1	0
ACBD4	79777	broad.mit.edu	37	17	43220990	43220990	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:43220990G>A	ENST00000431281.1	+	12	1477	c.1008G>A	c.(1006-1008)ctG>ctA	p.L336L	ACBD4_ENST00000398322.3_3'UTR|ACBD4_ENST00000592162.1_3'UTR|ACBD4_ENST00000591859.1_Silent_p.L336L|ACBD4_ENST00000586346.1_Silent_p.L336L|ACBD4_ENST00000321854.8_3'UTR	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	0							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						GCTGTGCCCTGAGCCTTCCTA	0.542000													17	55					0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233344944	233344944	+	Silent	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:233344944G>C	ENST00000304546.1	-	18	2457	c.2247C>G	c.(2245-2247)tcC>tcG	p.S749S	ECEL1_ENST00000409941.1_Silent_p.S747S	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	749					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCTCAAACTGGGACACACTGC	0.622000													8	47					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	54					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2127659	2127659	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:2127659C>T	ENST00000219476.3	+	26	3528	c.2898C>T	c.(2896-2898)ttC>ttT	p.F966F	TSC2_ENST00000382538.6_Intron|TSC2_ENST00000568454.1_Intron|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000401874.2_Intron|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000353929.4_Intron|TSC2_ENST00000350773.4_Silent_p.F966F	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	966					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGAAAGAATTCAAGGAGAGCT	0.612000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				53	154					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41743859	41743859	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:41743859C>G	ENST00000301178.4	+	7	984	c.794C>G	c.(793-795)tCa>tGa	p.S265*	AXL_ENST00000593513.1_5'UTR|AXL_ENST00000359092.3_Nonsense_Mutation_p.S265*	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	265	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCTGTGCTGTCAAACGATGGG	0.627000													18	56					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61225714	61225714	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:61225714C>T	ENST00000382768.1	+	2	298	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	SERPINB12_ENST00000269491.1_Intron			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	81					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						GCCTCTGGATCAGCAGGTGAA	0.443000													6	17					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25924962	25924962	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:25924962C>T	ENST00000356865.6	-	21	4137	c.4026G>A	c.(4024-4026)agG>agA	p.R1342R		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1342					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCTTGACTGTCCTCCCTGATG	0.622000													30	68					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145001638	145001638	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:145001638C>G	ENST00000322810.4	-	27	4276	c.4107G>C	c.(4105-4107)caG>caC	p.Q1369H	PLEC_ENST00000527096.1_Missense_Mutation_p.Q1255H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q1218H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q1210H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q1259H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q1200H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q1232H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q1232H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q1236H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1369	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGGCCTGGATCTGCTCCTGCC	0.731000													7	35					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148596283	148596283	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:148596283G>A	ENST00000296046.3	+	4	377	c.325G>A	c.(325-327)Gat>Aat	p.D109N	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	109					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TGTTAAAGAAGATATCCCAGG	0.318000													53	206					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195384986	195384986	+	RNA	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:195384986C>T	ENST00000445430.1	+	0	39																											GGTCCGGGGCCTGTCGCGGTT	0.781000													2	0					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728688	20728688	+	Silent	SNP	T	T	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:20728688T>C	ENST00000427401.4	-	4	415	c.321A>G	c.(319-321)ggA>ggG	p.G107G		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	107					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AATTGTCATGTCCATAGTTTT	0.368000													32	44					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101944608	101944608	+	Silent	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:101944608G>T	ENST00000251127.6	-	8	990	c.909C>A	c.(907-909)atC>atA	p.I303I	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Silent_p.I303I	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	303						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAATGAGAGTGATGAAATAGA	0.453000													19	26					0.00121646	0.00124726	1	1	0
NPHP4	261734	broad.mit.edu	37	1	5993284	5993284	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:5993284G>A	ENST00000378156.4	-	10	1490	c.1225C>T	c.(1225-1227)Ctg>Ttg	p.L409L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	409					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	p.L409L(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCCTGCAGAGGCAGGGTC	0.542000													20	42					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105363418	105363418	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:105363418C>T	ENST00000369774.4	-	15	1833	c.1557G>A	c.(1555-1557)cgG>cgA	p.R519R	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Silent_p.R386R|SH3PXD2A_ENST00000355946.2_Silent_p.R491R|SH3PXD2A_ENST00000538130.1_Silent_p.R354R			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	519					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GCACCTTGGGCCGGGTCAGCG	0.677000													4	56					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18016846	18016846	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:18016846G>A	ENST00000262608.8	+	9	1100	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E	CECR2_ENST00000400585.2_Missense_Mutation_p.G225E|CECR2_ENST00000400573.4_Missense_Mutation_p.G366E|CECR2_ENST00000342247.5_Missense_Mutation_p.G338E	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	408					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CTGGCTCAAGGAAAGGAGCTC	0.483000													28	70					0	0	1	0	0
SLC38A9	153129	broad.mit.edu	37	5	54960600	54960600	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:54960600C>G	ENST00000539768.1	-	6	617	c.618G>C	c.(616-618)ttG>ttC	p.L206F	SLC38A9_ENST00000396865.2_Missense_Mutation_p.L206F|SLC38A9_ENST00000318672.3_Missense_Mutation_p.L206F|SLC38A9_ENST00000515629.1_Missense_Mutation_p.L143F|SLC38A9_ENST00000416547.2_Missense_Mutation_p.L82F|SLC38A9_ENST00000512595.1_Missense_Mutation_p.L179F			Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	206					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				TGAGAGACACCAAGGAGAAAA	0.373000													7	51					0	0	1	0	0
LAPTM4A	9741	broad.mit.edu	37	2	20237149	20237149	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:20237149G>A	ENST00000175091.4	-	4	867	c.360C>T	c.(358-360)ttC>ttT	p.F120F		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	120					transport	endomembrane system|Golgi apparatus|integral to membrane				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTGAGGACGAAGTCAAAAA	0.358000													18	47					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187516767	187516767	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:187516767C>G	ENST00000261023.3	+	15	1730	c.1456C>G	c.(1456-1458)Caa>Gaa	p.Q486E	ITGAV_ENST00000433736.2_Missense_Mutation_p.Q440E|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.Q450E	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	486					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CATTTTAAATCAAGACAATAA	0.373000													8	27					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72981280	72981280	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:72981280C>T	ENST00000262209.4	-	3	629	c.422G>A	c.(421-423)gGc>gAc	p.G141D		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	141						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATTATTCATGCCCTGCACAGC	0.517000													5	421					0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110980398	110980398	+	Silent	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:110980398C>A	ENST00000524391.1	-	4	2454	c.1422G>T	c.(1420-1422)cgG>cgT	p.R474R	KCNV1_ENST00000297404.1_Silent_p.R474R			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	474						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CCATGATACTCCGGGCATAGA	0.423000													42	28					8.16277e-20	8.95914e-20	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1262589	1262589	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:1262589C>T	ENST00000447027.1	+	31	4546	c.4488C>T	c.(4486-4488)gtC>gtT	p.V1496V	MUC5B_ENST00000529681.1_Silent_p.V1493V			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1493	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGTGACGGTCACCCCCTCGG	0.647000													6	16					0	0	1	0	0
DNAJA1	3301	broad.mit.edu	37	9	33038869	33038869	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:33038869C>T	ENST00000330899.4	+	9	1345	c.1162C>T	c.(1162-1164)Ccc>Tcc	p.P388S	DNAJA1_ENST00000544625.1_Missense_Mutation_p.P231S	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	388					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TGAACATCATCCCAGAGGTGG	0.458000													3	27					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154313342	154313342	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:154313342C>T	ENST00000368489.3	+	13	1146	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Silent_p.I368I	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	368					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGAGGTCATCCGTCTGGGCC	0.607000													27	122					0	0	1	0	0
AMD1	262	broad.mit.edu	37	6	111210139	111210139	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:111210139C>A	ENST00000368885.3	+	3	613	c.277C>A	c.(277-279)Ccc>Acc	p.P93T	AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368877.5_Missense_Mutation_p.P64T|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368876.1_Missense_Mutation_p.P24T	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	93					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	AGCACTGGTTCCCCTGTTGAA	0.393000													46	48					2.84425e-11	3.03937e-11	1	1	0
SRRM2	23524	broad.mit.edu	37	16	2817149	2817149	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:2817149G>C	ENST00000301740.8	+	11	7169	c.6620G>C	c.(6619-6621)aGa>aCa	p.R2207T		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2207	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTTGCTGCAAGAATGTCCCAG	0.597000													25	63					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10204996	10204996	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:10204996A>G	ENST00000418404.3	-	39	5855	c.5692T>C	c.(5692-5694)Tcc>Ccc	p.S1898P	MYH13_ENST00000252172.4_Missense_Mutation_p.S1898P|MYH13_ENST00000570743.1_Missense_Mutation_p.S1898P			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1898					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CGGCATCTGGACAGCTGCGTG	0.617000													15	43					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41026013	41026013	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:41026013C>T	ENST00000352632.3	+	16	3695	c.3609C>T	c.(3607-3609)ctC>ctT	p.L1203L	SPTBN4_ENST00000598249.1_Silent_p.L1203L|SPTBN4_ENST00000344104.3_Silent_p.L1203L|SPTBN4_ENST00000338932.3_Silent_p.L1203L|SPTBN4_ENST00000595535.1_Silent_p.L1203L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1203					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTACCAGCTCTTCCTGCGGG	0.647000													13	46					0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62363555	62363555	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:62363555G>A	ENST00000278823.2	-	12	1430	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	MTA2_ENST00000527204.1_Silent_p.I174I|MTA2_ENST00000524902.1_Silent_p.I174I	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	347					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CCACAGAAATGATCTGGTTAG	0.488000													19	51					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57955243	57955243	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:57955243C>T	ENST00000334181.4	+	3	977	c.727C>T	c.(727-729)Cag>Tag	p.Q243*	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	243			Q -> R (in dbSNP:rs12986235).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TATTAAATATCAGCAAAATCA	0.413000													18	100					0	0	1	0	0
SH2D5	400745	broad.mit.edu	37	1	21050667	21050667	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:21050667G>A	ENST00000375031.1	-	6	1080	c.456C>T	c.(454-456)cgC>cgT	p.R152R	SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000444387.2_Silent_p.R236R	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	152										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGCCTTCTTGCGCACCAGCG	0.672000													41	82					0	0	1	0	0
PTOV1	53635	broad.mit.edu	37	19	50360312	50360312	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:50360312C>T	ENST00000391842.1	+	6	809	c.639C>T	c.(637-639)atC>atT	p.I213I	AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000601638.1_Silent_p.I181I|PTOV1_ENST00000601675.1_Silent_p.I213I|PTOV1_ENST00000599732.1_Silent_p.I213I|PTOV1_ENST00000221557.9_Silent_p.I181I|PTOV1_ENST00000600603.1_Silent_p.I181I|PTOV1_ENST00000598325.1_3'UTR	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	213	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		AGAAGAAGATCTTCATGGGCC	0.647000													34	269					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26168328	26168328	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:26168328G>A	ENST00000335473.7	+	7	1970	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	MYO18B_ENST00000407587.2_Missense_Mutation_p.E574K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E574K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	574	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGACCAGGTCGAGGACCTGGC	0.622000													61	204					0	0	1	0	0
RASSF2	9770	broad.mit.edu	37	20	4768915	4768915	+	Splice_Site	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:4768915C>G	ENST00000379400.3	-	9	835		c.e9-1		RASSF2_ENST00000478553.1_Splice_Site|RASSF2_ENST00000379376.2_Splice_Site	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2						cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						AATTCTCAATCTGAAGCAGGA	0.378000													13	49					0	0	1	0	0
UBAC2	337867	broad.mit.edu	37	13	100037588	100037588	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:100037588G>A	ENST00000376440.2	+	7	1432	c.929G>A	c.(928-930)tGa>tAa	p.*310*	UBAC2_ENST00000403766.3_Silent_p.*345*|UBAC2_ENST00000460562.1_3'UTR	NM_177967.3	NP_808882.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	0	UBA.					integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTGCAGCACTGATAGTCCCAG	0.582000													26	29					0	0	1	0	0
FBXO27	126433	broad.mit.edu	37	19	39517548	39517548	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:39517548C>G	ENST00000292853.4	-	5	789	c.670G>C	c.(670-672)Gat>Cat	p.D224H	FBXO27_ENST00000509137.2_Missense_Mutation_p.D224H|FBXO27_ENST00000600828.1_Missense_Mutation_p.D223H	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	224	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGATGGGATCAGGCACAGCA	0.532000													14	265					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10089666	10089666	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:10089666G>A	ENST00000287647.3	+	16	1437	c.1344G>A	c.(1342-1344)caG>caA	p.Q448Q	FANCD2_ENST00000383807.1_Silent_p.Q448Q|FANCD2_ENST00000419585.1_Silent_p.Q448Q|FANCD2_ENST00000383806.1_Silent_p.Q448Q	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	448					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CTCTAGACCAGAGTATAATTT	0.403000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				17	157					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51025691	51025691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:51025691C>T	ENST00000442544.2	+	27	4538	c.3922C>T	c.(3922-3924)Caa>Taa	p.Q1308*	DCC_ENST00000581580.1_Nonsense_Mutation_p.Q941*|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1308					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACCAACTACCCAACAACCACC	0.512000													11	51					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113300226	113300226	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:113300226G>A	ENST00000264852.4	+	6	1408	c.682G>A	c.(682-684)Gac>Aac	p.D228N	SIDT1_ENST00000393830.3_Missense_Mutation_p.D228N	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	228						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GTATGATCTCGACCACAATGT	0.463000													17	45					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69948683	69948683	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:69948683G>C	ENST00000358913.5	+	13	3213	c.2725G>C	c.(2725-2727)Gag>Cag	p.E909Q	MYPN_ENST00000354393.2_Missense_Mutation_p.E634Q|MYPN_ENST00000540630.1_Missense_Mutation_p.E909Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	909						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTCAAGCTTTGAGCAGAGGCT	0.408000													10	16					0	0	1	0	0
COQ3	51805	broad.mit.edu	37	6	99817632	99817632	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:99817632C>T	ENST00000254759.3	-	7	978	c.954G>A	c.(952-954)tgG>tgA	p.W318*	COQ3_ENST00000369242.1_Nonsense_Mutation_p.W90*|COQ3_ENST00000369240.1_Nonsense_Mutation_p.W90*	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	318					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TATTTTCACTCCAATGCCAGT	0.408000													62	67					0	0	1	0	0
CRYBB1	1414	broad.mit.edu	37	22	26995538	26995538	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:26995538C>T	ENST00000215939.2	-	6	805	c.675G>A	c.(673-675)caG>caA	p.Q225Q		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	225	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						GGGACTGCATCTGTGGCTGGA	0.617000													20	81					0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77477674	77477674	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:77477674G>A	ENST00000299543.7	+	9	2355	c.2208G>A	c.(2206-2208)caG>caA	p.Q736Q	CTDP1_ENST00000075430.7_Silent_p.Q736Q	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	736					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CCAAGGCACAGAGGTGGGTCC	0.647000													25	48					0	0	1	0	0
EDEM2	55741	broad.mit.edu	37	20	33711712	33711712	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:33711712C>G	ENST00000540582.1	-	13	1693	c.972G>C	c.(970-972)gaG>gaC	p.E324D	EDEM2_ENST00000542871.1_Missense_Mutation_p.E89D|EDEM2_ENST00000541621.1_Missense_Mutation_p.E144D|EDEM2_ENST00000374491.2_Missense_Mutation_p.E328D|EDEM2_ENST00000374492.3_Missense_Mutation_p.E365D			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	365					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTGGGTAGCCCTCTCGCTTCT	0.542000													13	47					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42914791	42914791	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:42914791C>G	ENST00000244289.4	-	2	1363	c.1087G>C	c.(1087-1089)Gac>Cac	p.D363H	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE_ENST00000602000.1_Intron	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	363					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GGGTCCAGGTCAAAGAGGTGC	0.687000													13	54					0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42288225	42288225	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:42288225G>A	ENST00000302904.4	-	13	1786	c.1294C>T	c.(1294-1296)Ctc>Ttc	p.L432F	UBTF_ENST00000343638.5_Missense_Mutation_p.L395F|UBTF_ENST00000393606.3_Missense_Mutation_p.L395F|UBTF_ENST00000529383.1_Missense_Mutation_p.L432F|UBTF_ENST00000436088.1_Missense_Mutation_p.L432F|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Missense_Mutation_p.L395F|UBTF_ENST00000527034.1_Missense_Mutation_p.L395F|UBTF_ENST00000526094.1_Missense_Mutation_p.L395F			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	432					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTCTCGGAGAGCTCAGGCCGC	0.667000													6	7					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87970506	87970506	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:87970506C>G	ENST00000369577.3	+	8	7202	c.7159C>G	c.(7159-7161)Cca>Gca	p.P2387A	ZNF292_ENST00000339907.4_Missense_Mutation_p.P2382A	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AACCCAGTATCCATGTATGAT	0.343000													8	21					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31473901	31473901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:31473901C>T	ENST00000457010.2	+	3	1734	c.1033C>T	c.(1033-1035)Cag>Tag	p.Q345*	ARMC5_ENST00000408912.3_Nonsense_Mutation_p.Q440*|ARMC5_ENST00000563544.1_Nonsense_Mutation_p.Q345*|ARMC5_ENST00000538189.1_Nonsense_Mutation_p.Q377*|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Nonsense_Mutation_p.Q345*	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	345							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCCAACCTCCCAGCAGCCCCT	0.652000													23	54					0	0	1	0	0
XPO1	7514	broad.mit.edu	37	2	61720111	61720111	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:61720111C>T	ENST00000401558.2	-	13	2050	c.1323G>A	c.(1321-1323)gtG>gtA	p.V441V	XPO1_ENST00000406957.1_Silent_p.V441V|XPO1_ENST00000404992.2_Silent_p.V441V	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	441	Interaction with RANBP3.|Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TGAATTCTCTCACAACTTCTC	0.313000			Mis		CLL								51	46					0	0	1	0	0
SREBF1	6720	broad.mit.edu	37	17	17722719	17722719	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:17722719G>A	ENST00000355815.4	-	5	1020	c.851C>T	c.(850-852)gCc>gTc	p.A284V	SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000435530.2_Missense_Mutation_p.A254V|SREBF1_ENST00000395757.1_5'UTR|SREBF1_ENST00000338854.5_Missense_Mutation_p.A254V|SREBF1_ENST00000261646.5_Missense_Mutation_p.A254V	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	254	Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TGTCTTCATGGCTGTCAGAAG	0.632000													38	77					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202710590	202710590	+	Silent	SNP	C	C	A	rs141076441		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:202710590C>A	ENST00000367265.3	-	19	4014	c.2850G>T	c.(2848-2850)ccG>ccT	p.P950P	KDM5B_ENST00000367264.2_Silent_p.P986P	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	950					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTGCTGAATACGGGGCCAGCC	0.557000													60	26					3.57465e-26	3.96639e-26	1	1	0
SYNM	23336	broad.mit.edu	37	15	99653797	99653797	+	Splice_Site	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:99653797G>C	ENST00000336292.6	+	3	929	c.807_splice	c.e3-1	p.R270_splice	SYNM_ENST00000328642.7_Splice_Site_p.R270_splice|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_5'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	271	Coil 2.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TCTCTTTAGAGAGTGATTGAC	0.498000													21	23					0	0	1	0	0
M1AP	130951	broad.mit.edu	37	2	74867368	74867368	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:74867368G>A	ENST00000290536.5	-	2	151	c.35C>T	c.(34-36)tCt>tTt	p.S12F	M1AP_ENST00000409585.1_Missense_Mutation_p.S12F|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.S12F	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		AGTGTGAGTAGAGGGCCCTTT	0.532000													13	37					0	0	1	0	0
PGM2L1	283209	broad.mit.edu	37	11	74056608	74056608	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:74056608C>T	ENST00000298198.4	-	9	1435	c.1124G>A	c.(1123-1125)aGa>aAa	p.R375K		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	375					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					ATCAGCATTTCTTGATTTATT	0.373000													15	81					0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102227846	102227846	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:102227846G>A	ENST00000376180.3	+	4	754	c.535G>A	c.(535-537)Gag>Aag	p.E179K	ITGBL1_ENST00000376162.3_Missense_Mutation_p.E86K|ITGBL1_ENST00000545560.2_Missense_Mutation_p.E38K	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	179	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAAATTTTGTGAGTGTGACGA	0.348000													38	144					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23852493	23852493	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:23852493C>T	ENST00000405093.3	-	37	5672	c.5602G>A	c.(5602-5604)Gac>Aac	p.D1868N	MYH6_ENST00000356287.3_Missense_Mutation_p.D1868N	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1868					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCACCAGGTCCTGTAGCCGC	0.562000													67	88					0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40554786	40554786	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:40554786C>T	ENST00000297737.6	-	4	473	c.327G>A	c.(325-327)gaG>gaA	p.E109E	ZMAT4_ENST00000315769.7_Silent_p.E109E	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	109						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			ATGGGGTCTTCTCTCCTAGCA	0.512000													11	122					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55036718	55036718	+	Splice_Site	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:55036718G>A	ENST00000417545.2	+	5	665	c.578_splice	c.e5-1	p.R193_splice		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	177						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TTCCTTGCAGGAGTGAGTCCG	0.463000													13	4					0	0	1	0	0
WDR83	84292	broad.mit.edu	37	19	12781380	12781380	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:12781380G>T	ENST00000418543.3	+	6	683	c.334G>T	c.(334-336)Gtg>Ttg	p.V112L	WDR83OS_ENST00000600694.1_Intron|WDR83_ENST00000242796.4_Missense_Mutation_p.V112L|WDR83OS_ENST00000596731.1_5'UTR	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	112					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						TTCTCAGAAGGTGAACACGGT	0.577000													73	350					1.14856e-27	1.28146e-27	1	1	0
SMG1	23049	broad.mit.edu	37	16	18849386	18849386	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:18849386C>G	ENST00000446231.2	-	45	7775	c.7363G>C	c.(7363-7365)Gag>Cag	p.E2455Q	SMG1_ENST00000389467.3_Missense_Mutation_p.E2455Q			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2455	PI3K/PI4K.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATCTCTCGCTCCATCTCTCTC	0.517000													7	42					0	0	1	0	0
GLI4	2738	broad.mit.edu	37	8	144358465	144358465	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:144358465G>A	ENST00000340042.1	+	4	707	c.622G>A	c.(622-624)Gag>Aag	p.E208K	GLI4_ENST00000523522.1_Missense_Mutation_p.E208K|ZFP41_ENST00000522452.1_3'UTR|GLI4_ENST00000523812.1_3'UTR	NM_138465.3	NP_612474.1	P10075	GLI4_HUMAN	GLI family zinc finger 4	208						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CCACACGGGCGAGAAGCCCTA	0.672000													10	51					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77765925	77765925	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:77765925T>C	ENST00000407578.2	-	28	4225	c.3959A>G	c.(3958-3960)gAt>gGt	p.D1320G	MYCBP2_ENST00000544440.2_Missense_Mutation_p.D1282G|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D1282G|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AACAGGCTCATCAAACATCAT	0.408000													44	24					0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31931238	31931238	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:31931238C>T	ENST00000375394.2	+	14	1565	c.1452C>T	c.(1450-1452)ccC>ccT	p.P484P	SKIV2L_ENST00000544581.1_Silent_p.P291P	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	484						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TAACCCGCCCCGTGCCCCTGG	0.567000													30	31					0	0	1	0	0
FSCN1	6624	broad.mit.edu	37	7	5644943	5644943	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr7:5644943G>A	ENST00000382361.3	+	5	1434	c.1320G>A	c.(1318-1320)gcG>gcA	p.A440A	FSCN1_ENST00000340250.6_Silent_p.A419A	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	440				A -> V (in Ref. 8; AAH06304).	actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GTGACTCCGCGGTCACCAGCA	0.622000													26	88					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173997435	173997435	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:173997435A>C	ENST00000457714.1	+	6	2073	c.1644A>C	c.(1642-1644)aaA>aaC	p.K548N	NLGN1_ENST00000401917.3_Missense_Mutation_p.K588N|NLGN1_ENST00000361589.4_Missense_Mutation_p.K548N|NLGN1_ENST00000545397.1_Missense_Mutation_p.K548N	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	565					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATTTTGCTAAAACTGGGTATG	0.313000													12	96					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971107	21971107	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:21971107T>C	ENST00000304494.5	-	2	521	c.251A>G	c.(250-252)gAc>gGc	p.D84G	CDKN2A_ENST00000446177.1_Missense_Mutation_p.D84G|CDKN2A_ENST00000530628.2_Silent_p.R98R|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D33G|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D33G|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D33G|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D84G|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D33G|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D84G|CDKN2A_ENST00000361570.3_Silent_p.R139R|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D33G|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Silent_p.R98R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	84			D -> E (in a bladder tumor).|D -> H (in non-small cell lung carcinoma).|D -> N (in an esophagus, a head and neck and a lung tumor).|D -> Y (in CMM2; also found in a lung and a prostate tumor; dbSNP:rs11552822).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D84V(6)|p.D84G(2)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)|p.R139R(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGGGCAGCGTCGTGCACGGG	0.741000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	12					0	0	1	0	0
NOL11	25926	broad.mit.edu	37	17	65717547	65717547	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:65717547G>A	ENST00000253247.4	+	4	481	c.366G>A	c.(364-366)gtG>gtA	p.V122V	NOL11_ENST00000535137.1_5'UTR|NOL11_ENST00000581966.1_3'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	122						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AACCCTTGGTGCTCTTCAAGG	0.373000													28	139					0	0	1	0	0
ERMARD	55780	broad.mit.edu	37	6	170162599	170162599	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:170162599G>A	ENST00000588451.1	+	9	1067	c.554G>A	c.(553-555)aGa>aAa	p.R185K	C6orf70_ENST00000418781.3_Missense_Mutation_p.R311K|C6orf70_ENST00000366773.3_Missense_Mutation_p.R311K|C6orf70_ENST00000392095.4_Missense_Mutation_p.R185K|C6orf70_ENST00000366772.2_Missense_Mutation_p.R311K			Q5T6L9	CF070_HUMAN		311						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		ACACTTAACAGATGTCCAAAA	0.373000													55	45					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308924	248308924	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:248308924G>C	ENST00000366476.1	+	1	475	c.475G>C	c.(475-477)Gat>Cat	p.D159H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGCAATCATTGATGCTGTAGC	0.468000													57	213					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125487200	125487200	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:125487200C>G	ENST00000259466.1	+	1	932	c.932C>G	c.(931-933)tCa>tGa	p.S311*		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						AGAATTTACTCATAGAAAGAA	0.378000													10	8					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6105333	6105333	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:6105333G>A	ENST00000261405.5	-	35	6152	c.5898C>T	c.(5896-5898)ttC>ttT	p.F1966F		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1966	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGTCAGCTTGAAATTCTGCC	0.537000													21	15					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25283535	25283535	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:25283535G>A	ENST00000218548.6	+	18	2878	c.2545G>A	c.(2545-2547)Gaa>Aaa	p.E849K	ATP12A_ENST00000381946.3_Missense_Mutation_p.E843K	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	843					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CGAGAAAGCTGAAAGTGACAT	0.547000													20	29					0	0	1	0	0
SMURF2	64750	broad.mit.edu	37	17	62559052	62559052	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:62559052T>A	ENST00000262435.9	-	11	1236	c.1049A>T	c.(1048-1050)cAg>cTg	p.Q350L	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	350					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TACCACTTGCTGTTGCTGTTG	0.353000													15	30					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900696	123900696	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:123900696C>G	ENST00000431524.1	+	1	400	c.367C>G	c.(367-369)Ctg>Gtg	p.L123V		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGATCGCTACCTGGCCATCAG	0.562000													37	96					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31538230	31538230	+	Silent	SNP	A	A	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:31538230A>T	ENST00000261592.5	-	7	1506	c.1209T>A	c.(1207-1209)gtT>gtA	p.V403V	NOL4_ENST00000269185.4_Silent_p.V289V|NOL4_ENST00000538587.1_Silent_p.V329V|NOL4_ENST00000535475.1_Silent_p.V248V|NOL4_ENST00000535384.1_Silent_p.V118V|NOL4_ENST00000589544.1_Silent_p.V403V	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	403						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GCTCGGCTTCAACGCCGTCTG	0.473000													11	60					0	0	1	0	0
POLR2F	5435	broad.mit.edu	37	22	38352802	38352802	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:38352802G>A	ENST00000442738.2	+	2	168	c.43G>A	c.(43-45)Gat>Aat	p.D15N	POLR2F_ENST00000606538.1_Missense_Mutation_p.D15N|POLR2F_ENST00000470701.1_Missense_Mutation_p.D10N|POLR2F_ENST00000460648.1_Missense_Mutation_p.D15N|POLR2F_ENST00000488684.1_Missense_Mutation_p.D15N|POLR2F_ENST00000407936.1_Missense_Mutation_p.D15N|POLR2F_ENST00000405557.1_Missense_Mutation_p.D15N|POLR2F_ENST00000484894.1_3'UTR	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	15					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					CGACTTTGATGATGTGGAGGA	0.502000													11	60					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396480	154396480	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396480A>G	ENST00000435029.4	+	1	3221	c.3061A>G	c.(3061-3063)Atc>Gtc	p.I1021V		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1021	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTTGAATATATCCCACCTAA	0.403000													36	122					0	0	1	0	0
HAUS4	54930	broad.mit.edu	37	14	23415864	23415864	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:23415864C>A	ENST00000206474.7	-	10	1214	c.962G>T	c.(961-963)aGa>aTa	p.R321I	HAUS4_ENST00000490506.1_Missense_Mutation_p.R197I|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000555986.1_Missense_Mutation_p.R276I|HAUS4_ENST00000347758.2_Missense_Mutation_p.R195I|HAUS4_ENST00000541587.1_Missense_Mutation_p.R321I|HAUS4_ENST00000397409.4_Missense_Mutation_p.R195I|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000555367.1_Missense_Mutation_p.R276I|HAUS4_ENST00000342454.8_Missense_Mutation_p.R276I|RP11-298I3.5_ENST00000555074.1_Missense_Mutation_p.K150N|HAUS4_ENST00000554446.1_5'UTR			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	321					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						CAGGACCTGTCTTGAGTTCTC	0.552000													16	51					1.3612e-06	1.42084e-06	1	1	0
PNKP	11284	broad.mit.edu	37	19	50368399	50368399	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:50368399C>T	ENST00000322344.3	-	4	592	c.483G>A	c.(481-483)gtG>gtA	p.V161V	PNKP_ENST00000600910.1_Silent_p.V161V|PNKP_ENST00000596014.1_Silent_p.V161V|PNKP_ENST00000600573.1_Silent_p.V161V	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	161					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CCTGGGGTTTCACCCCAGCTG	0.582000								Other BER factors					14	31					0	0	1	0	0
HIST3H3	8290	broad.mit.edu	37	1	228612919	228612919	+	Silent	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:228612919C>A	ENST00000366696.1	-	1	107	c.108G>T	c.(106-108)gtG>gtT	p.V36V		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	36					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				GCGGCTTCTTCACGCCGCCAG	0.667000													34	118					4.31865e-32	4.84502e-32	1	1	0
ZNF32	7580	broad.mit.edu	37	10	44139569	44139569	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:44139569C>T	ENST00000395797.1	-	3	939	c.751G>A	c.(751-753)Gga>Aga	p.G251R	ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.G251R	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		AAGCTTTTTCCACACTGGCCG	0.522000													11	88					0	0	1	0	0
PAPOLA	10914	broad.mit.edu	37	14	96998720	96998720	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:96998720C>T	ENST00000216277.8	+	8	880	c.660C>T	c.(658-660)ttC>ttT	p.F220F	PAPOLA_ENST00000557320.1_Silent_p.F220F|PAPOLA_ENST00000392990.2_Silent_p.F220F	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	220				CRVTDEILHLVPNIDNFRLTLRAIKLWAKRHNIYS -> MR KPTSFCVLQFLSDISCFYTSFVLKLFIAILLTQ (in Ref. 2; CAD61935).	mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TTGACAACTTCAGGTTAACTC	0.353000													13	73					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309242	248309242	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:248309242G>C	ENST00000366476.1	+	1	793	c.793G>C	c.(793-795)Gat>Cat	p.D265H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GCCCACATCTGATCGCTCCCC	0.517000													30	102					0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14307765	14307765	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:14307765G>A	ENST00000378053.3	-	2	644	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Silent_p.L130L	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	130					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AATTCTTCCAGATAGGGAATT	0.388000													18	38					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396653	154396653	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396653C>T	ENST00000435029.4	+	1	3394	c.3234C>T	c.(3232-3234)gtC>gtT	p.V1078V		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1078	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAAAATTAGTCAAGGTGTCCA	0.488000													8	28					0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161494725	161494725	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:161494725delC	ENST00000309758.4	+	1	690	c.277delC	c.(277-279)ccfs	p.P93fs		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	93					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GAAGCACTGGCCCTTCCGGGT	0.652													71	145	---	---	---	---					
PAPOLG	64895	broad.mit.edu	37	2	61009834	61009835	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:61009834_61009835delAG	ENST00000238714.3	+	12	1290_1291	c.1041_1042delAG	c.(1039-1044)acatfs	p.TD347fs	PAPOLG_ENST00000483370.1_3'UTR	NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	347					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TTGCAGTCACAGATGAAATTCT	0.302													10	25	---	---	---	---					
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815895	+	RNA	DEL	A	A	-	rs145239076		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:19815895delA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaa	0.413													3	3	---	---	---	---					
NKD2	85409	broad.mit.edu	37	5	1038447	1038452	+	In_Frame_Del	DEL	CACCAC	CACCAC	-	rs3840989		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:1038447_1038452delCACCAC	ENST00000296849.5	+	10	1544_1549	c.1315_1320delCACCAC	c.(1315-1320)del	p.HH445del	NKD2_ENST00000382730.2_In_Frame_Del_p.APP78del|NKD2_ENST00000274150.4_3'UTR	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	445	His-rich.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccaccacc	0.689													4	2	---	---	---	---					
TMEM161B-AS1	100505894	broad.mit.edu	37	5	87678438	87678439	+	RNA	DEL	AT	AT	-			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:87678438_87678439delAT	ENST00000501715.2	+	0	577				TMEM161B-AS1_ENST00000501869.2_RNA|TMEM161B-AS1_ENST00000510087.1_RNA|TMEM161B-AS1_ENST00000504922.1_RNA																							GGGAAAACTAATAGAGTTTCAT	0.366													4	7	---	---	---	---					
SRRM3	222183	broad.mit.edu	37	7	75894108	75894119	+	In_Frame_Del	DEL	AAAGAGAAGAAC	AAAGAGAAGAAC	-			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr7:75894108_75894119delAAAGAGAAGAAC	ENST00000388802.4	+	9	909_920	c.700_711delAAAGAGAAGAAC	c.(700-711)del	p.KEKN234del	SRRM3_ENST00000326382.8_In_Frame_Del_p.KEKN234del					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						GTGCAAAAGAAAAGAGAAGAACAAAGAgaaga	0.557													7	67	---	---	---	---					
PNLIPRP3	119548	broad.mit.edu	37	10	118215233	118215234	+	Splice_Site	INS	-	-	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:118215233_118215234insA	ENST00000369230.3	+	5	602_603		c.e5-1			NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3						lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AATTCTTTCAGAAAAAATTTGA	0.386													19	29	---	---	---	---					
IL18	3606	broad.mit.edu	37	11	112019443	112019443	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:112019443delG	ENST00000280357.7	-	5	462	c.243delC	c.(241-243)acfs	p.T81fs	IL18_ENST00000528832.1_Frame_Shift_Del_p.T81fs|IL18_ENST00000533858.1_5'UTR|SDHD_ENST00000532699.1_Intron|IL18_ENST00000524595.1_Frame_Shift_Del_p.T77fs	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN	interleukin 18 (interferon-gamma-inducing factor)	81					angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		TAATAAATATGGTCCGGGGTG	0.353													2	4	---	---	---	---					
FOXJ2	55810	broad.mit.edu	37	12	8200558	8200560	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:8200558_8200560delCAG	ENST00000162391.3	+	7	2043_2045	c.898_900delCAG	c.(898-900)del	p.Q306del	FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	306	Poly-Gln.				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		gccacctcaacagcagcagcagc	0.640													7	115	---	---	---	---					
AJUBA	84962	broad.mit.edu	37	14	23450722	23450723	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:23450722_23450723insG	ENST00000262713.2	-	1	1128_1129	c.753_754insC	c.(751-756)cctggafs	p.G252fs	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.G252fs	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	252	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CGTCTCTCCAAGGGCCCCGCCG	0.728													21	7	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578463	7578464	+	Frame_Shift_Ins	INS	-	-	GGGT			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:7578463_7578464insGGGT	ENST00000420246.2	-	5	598_599	c.466_467insACCC	c.(466-468)cgtfs	p.R156fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.R156fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.R156fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.R156fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.R156fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.R156fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	156	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R156P(24)|p.R156fs*14(10)|p.R156H(10)|p.0?(8)|p.?(5)|p.P152fs*14(4)|p.R156S(3)|p.R156G(3)|p.R156L(3)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.R156fs*25(2)|p.R156C(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCGCGGACGCGGGTGCCGGGC	0.614		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	78	---	---	---	---					
SHKBP1	92799	broad.mit.edu	37	19	41096680	41096681	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:41096680_41096681delTG	ENST00000291842.5	+	17	1862_1863	c.1813_1814delTG	c.(1813-1815)tfs	p.C605fs	SHKBP1_ENST00000600733.1_Frame_Shift_Del_p.C580fs	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	605						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGGAACACTGTGAGCTGGCC	0.668													83	147	---	---	---	---					
LINC01272	100506115	broad.mit.edu	37	20	48886549	48886549	+	RNA	DEL	C	C	-			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:48886549delC	ENST00000425497.1	+	0	178																											GCAGTGACCTCCCTCCTCCTG	0.607													2	4	---	---	---	---