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
SLC44A5	204962	broad.mit.edu	37	1	75708580	75708580	+	Silent	SNP	C	C	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:75708580C>T	ENST00000370855.5	-	8	575	c.462G>A	c.(460-462)aaG>aaA	p.K154K	SLC44A5_ENST00000535611.1_Silent_p.K24K|SLC44A5_ENST00000370859.3_Silent_p.K154K	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	154						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCTTCACAGGCTTAGCAGTGG	0.368													16	170	---	---	---	---
LRRC8B	23507	broad.mit.edu	37	1	90058587	90058587	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:90058587C>A	ENST00000330947.2	+	6	2757	c.2397C>A	c.(2395-2397)tgC>tgA	p.C799*	LRRC8B_ENST00000358200.4_Nonsense_Mutation_p.C799*|LRRC8B_ENST00000439853.1_Nonsense_Mutation_p.C799*|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	799						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TACAGACGTGCTTAGACAAAT	0.433													4	88	---	---	---	---
CLK2	1196	broad.mit.edu	37	1	155240637	155240637	+	Silent	SNP	C	C	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:155240637C>T	ENST00000368361.4	-	2	447	c.132G>A	c.(130-132)cgG>cgA	p.R44R	CLK2_ENST00000536801.1_Silent_p.R44R|CLK2_ENST00000355560.4_Silent_p.R44R|CLK2_ENST00000361168.5_Silent_p.R44R			P49760	CLK2_HUMAN	CDC-like kinase 2	44						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCGCCGACGCCGTCGTGTCC	0.552								Other conserved DNA damage response genes					16	215	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156937915	156937915	+	Splice_Site	SNP	G	G	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:156937915G>A	ENST00000368194.3	-	11	1866	c.827C>T	c.(826-828)tCa>tTa	p.S276L	ARHGEF11_ENST00000361409.2_Splice_Site_p.S236L	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	236					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATTCATCAATGACTAGAGAAA	0.517													15	46	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181701995	181701995	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:181701995C>A	ENST00000526775.1	+	19	2881	c.2716C>A	c.(2716-2718)Cgc>Agc	p.R906S	CACNA1E_ENST00000367570.1_Missense_Mutation_p.R925S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R906S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R876S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R532S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R857S|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R925S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	925					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCGGCATCGCCGCGTCAGGAC	0.652													5	187	---	---	---	---
TMEM63A	9725	broad.mit.edu	37	1	226059717	226059717	+	Silent	SNP	G	G	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:226059717G>A	ENST00000366835.3	-	5	573	c.303C>T	c.(301-303)tcC>tcT	p.S101S		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	101						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GTTGACCTGAGGAGGAAGTCG	0.438													4	22	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232607141	232607141	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:232607141G>T	ENST00000366630.1	-	7	2577	c.2219C>A	c.(2218-2220)cCa>cAa	p.P740Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P740Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	740	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.P740Q(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCGGTACATGGATTATGCAC	0.433													5	143	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1982977	1982977	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr2:1982977C>A	ENST00000399161.2	-	8	859	c.112G>T	c.(112-114)Ggc>Tgc	p.G38C	MYT1L_ENST00000428368.2_Missense_Mutation_p.G38C	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	38					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGACCACTGCCGTCACAGCCA	0.512													3	27	---	---	---	---
BRE	9577	broad.mit.edu	37	2	28550226	28550226	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr2:28550226C>G	ENST00000344773.2	+	12	1312	c.1174C>G	c.(1174-1176)Cag>Gag	p.Q392E	BRE_ENST00000342045.2_Intron|BRE_ENST00000379632.2_Intron|BRE_ENST00000379624.1_Intron|BRE_ENST00000361704.2_Intron	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	0					apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CAAGCTGCTCCAGCCCCAGAG	0.557													29	182	---	---	---	---
LOXL3	84695	broad.mit.edu	37	2	74762839	74762839	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr2:74762839T>C	ENST00000264094.3	-	8	1363	c.1292A>G	c.(1291-1293)gAg>gGg	p.E431G	LOXL3_ENST00000393937.2_Missense_Mutation_p.E286G|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000409986.1_Missense_Mutation_p.E286G|LOXL3_ENST00000409249.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	431	SRCR 4.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TATTTGCACCTCGACTCGCCC	0.622													3	90	---	---	---	---
FANCD2OS	115795	broad.mit.edu	37	3	10145972	10145972	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr3:10145972A>G	ENST00000450660.2	-	2	703	c.487T>C	c.(487-489)Tat>Cat	p.Y163H	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.Y163H	NM_001164839.1	NP_001158311.1			FANCD2 opposite strand																		TAAGTTGCATACAGCAAGAGG	0.483													33	77	---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14561979	14561979	+	RNA	SNP	C	C	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr3:14561979C>G	ENST00000273083.3	-	0	843							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGCGAGATCCCCAGGGCAGAC	0.552													8	37	---	---	---	---
NEK4	6787	broad.mit.edu	37	3	52802507	52802507	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr3:52802507C>A	ENST00000233027.5	-	2	409	c.207G>T	c.(205-207)aaG>aaT	p.K69N	NEK4_ENST00000383721.4_Missense_Mutation_p.K69N|NEK4_ENST00000535191.1_Intron	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	69	Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CCCATGACTCCTTGTAGGTGA	0.522													7	206	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14474130	14474130	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:14474130G>T	ENST00000344204.4	+	40	6031	c.6007G>T	c.(6007-6009)Ggt>Tgt	p.G2003C	TRIO_ENST00000537187.1_Missense_Mutation_p.G2003C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2003	DH 2.				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)					GAAAGAAGATGGTGTTCCTGA	0.378													4	84	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14508079	14508079	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:14508079T>C	ENST00000344204.4	+	57	8866	c.8842T>C	c.(8842-8844)Tac>Cac	p.Y2948H	TRIO_ENST00000344135.5_Missense_Mutation_p.Y447H|TRIO_ENST00000537187.1_Missense_Mutation_p.Y2772H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2948	Protein kinase.				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)					CACGACCTACTACATCCACCA	0.517													9	65	---	---	---	---
ZFYVE16	9765	broad.mit.edu	37	5	79732904	79732904	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:79732904G>T	ENST00000338008.5	+	3	580	c.400G>T	c.(400-402)Ggt>Tgt	p.G134C	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.G134C|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.G134C	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	134					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AAGTGACATGGGTAACTTAGT	0.353													6	144	---	---	---	---
P4HA2	8974	broad.mit.edu	37	5	131544991	131544991	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:131544991C>A	ENST00000401867.1	-	8	1311	c.743G>T	c.(742-744)cGg>cTg	p.R248L	P4HA2_ENST00000360568.3_Missense_Mutation_p.R248L|P4HA2_ENST00000379086.1_Missense_Mutation_p.R248L|P4HA2_ENST00000379104.2_Missense_Mutation_p.R248L|P4HA2_ENST00000166534.4_Missense_Mutation_p.R248L|P4HA2_ENST00000379100.2_Missense_Mutation_p.R248L			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	248						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CTCAAAGTACCGCAGATTCCC	0.443													5	276	---	---	---	---
PCDHA12	56137	broad.mit.edu	37	5	140256229	140256229	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:140256229C>T	ENST00000398631.2	+	1	1172	c.1172C>T	c.(1171-1173)cCt>cTt	p.P391L	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACTGACACCTCATGTTCCC	0.567													21	135	---	---	---	---
SGCD	6444	broad.mit.edu	37	5	155935636	155935636	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:155935636C>G	ENST00000435422.3	+	3	702	c.215C>G	c.(214-216)aCa>aGa	p.T72R	SGCD_ENST00000517913.1_Missense_Mutation_p.T73R|SGCD_ENST00000337851.4_Missense_Mutation_p.T73R|SGCD_ENST00000447401.1_Missense_Mutation_p.T73R	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	72					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGAGGATCACAGAAAAAGGT	0.413													13	45	---	---	---	---
SPATS1	221409	broad.mit.edu	37	6	44337822	44337822	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr6:44337822C>A	ENST00000288390.2	+	6	1077	c.730C>A	c.(730-732)Cca>Aca	p.P244T	SPATS1_ENST00000323108.8_Missense_Mutation_p.P244T|RP11-444E17.6_ENST00000505802.1_3'UTR			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	244										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TACATTTATTCCACTTGAGCC	0.323													8	107	---	---	---	---
FAM83B	222584	broad.mit.edu	37	6	54735047	54735047	+	Translation_Start_Site	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr6:54735047G>T	ENST00000306858.7	+	2	119	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	1										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGCAAGCATGGAGACCTCAT	0.383													4	76	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64412495	64412495	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr6:64412495C>A	ENST00000262043.3	+	10	3537	c.3197C>A	c.(3196-3198)cCa>cAa	p.P1066Q	PHF3_ENST00000393387.1_Missense_Mutation_p.P1066Q			Q92576	PHF3_HUMAN	PHD finger protein 3	1066					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGTGATGCCCCAATGAAAGAA	0.383													5	102	---	---	---	---
GABRR1	2569	broad.mit.edu	37	6	89888605	89888605	+	Silent	SNP	T	T	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr6:89888605T>G	ENST00000435811.1	-	9	1727	c.1273A>C	c.(1273-1275)Aga>Cga	p.R425R	GABRR1_ENST00000454853.2_Silent_p.R442R|GABRR1_ENST00000369451.3_Silent_p.R355R	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	442					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TAGCTGCTTCTCTGACTTTTC	0.478													14	100	---	---	---	---
CDK13	8621	broad.mit.edu	37	7	40132728	40132728	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr7:40132728C>G	ENST00000181839.4	+	13	4185	c.3580C>G	c.(3580-3582)Cag>Gag	p.Q1194E	CDK13_ENST00000340829.5_Missense_Mutation_p.Q1134E	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1194					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AATAAAGGCTCAGCAGTCAAA	0.502													32	165	---	---	---	---
TYW1	55253	broad.mit.edu	37	7	66489943	66489943	+	Silent	SNP	G	G	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr7:66489943G>A	ENST00000359626.5	+	7	1082	c.918G>A	c.(916-918)caG>caA	p.Q306Q		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	306					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				AGGACCATCAGAGCCTAAATT	0.418													6	120	---	---	---	---
ZC3H3	23144	broad.mit.edu	37	8	144620720	144620720	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr8:144620720G>T	ENST00000262577.5	-	2	848	c.817C>A	c.(817-819)Cca>Aca	p.P273T		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	273					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GACGGAACTGGCTGATCTGTG	0.652													18	144	---	---	---	---
C8orf82	414919	broad.mit.edu	37	8	145753101	145753101	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr8:145753101G>T	ENST00000524821.1	-	3	491	c.276C>A	c.(274-276)ttC>ttA	p.F92L	C8orf82_ENST00000313465.5_3'UTR			Q6P1X6	CH082_HUMAN	chromosome 8 open reading frame 82	92										endometrium(1)|urinary_tract(1)	2						AGAGGAAGGGGAAAGCGGCCT	0.687													4	21	---	---	---	---
ADAMTSL2	9719	broad.mit.edu	37	9	136405789	136405789	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr9:136405789T>A	ENST00000393061.3	+	6	1241	c.809T>A	c.(808-810)cTc>cAc	p.L270H	ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.L161H|ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.L161H			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	161					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CAGCGGCAGCTCATGGTCCCC	0.557													18	54	---	---	---	---
HNRNPF	3185	broad.mit.edu	37	10	43883242	43883242	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr10:43883242G>T	ENST00000443950.2	-	3	577	c.91C>A	c.(91-93)Ctc>Atc	p.L31I	HNRNPF_ENST00000356053.3_Missense_Mutation_p.L31I|HNRNPF_ENST00000544000.1_Missense_Mutation_p.L31I|HNRNPF_ENST00000337970.3_Missense_Mutation_p.L31I|HNRNPF_ENST00000498176.1_5'UTR|HNRNPF_ENST00000357065.4_Missense_Mutation_p.L31I	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	31	RRM 1.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CAGTCAGAGAGGAAGTTCTGC	0.552													5	57	---	---	---	---
SPTY2D1	144108	broad.mit.edu	37	11	18655745	18655745	+	Splice_Site	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr11:18655745C>A	ENST00000336349.5	-	1	295	c.60G>T	c.(58-60)ccG>ccT	p.P20P	SPTY2D1_ENST00000543776.1_Intron	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	20										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TGCTACTTACCGGCACATTGT	0.562													6	214	---	---	---	---
OR6T1	219874	broad.mit.edu	37	11	123813655	123813655	+	Silent	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr11:123813655C>A	ENST00000321252.2	-	1	925	c.891G>T	c.(889-891)gtG>gtT	p.V297V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		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;0.0401)		GTGCTTGCTGCACCTTGTCAT	0.502													26	295	---	---	---	---
ATP6V0A2	23545	broad.mit.edu	37	12	124212379	124212379	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr12:124212379A>C	ENST00000330342.3	+	6	819	c.571A>C	c.(571-573)Atg>Ctg	p.M191L		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	191					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ATTTGAAAAAATGTTGTGGAG	0.408													23	61	---	---	---	---
MMP17	4326	broad.mit.edu	37	12	132335621	132335621	+	Silent	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr12:132335621G>T	ENST00000360564.1	+	10	1716	c.1614G>T	c.(1612-1614)gcG>gcT	p.A538A	MMP17_ENST00000535004.1_Silent_p.A78A|MMP17_ENST00000535291.1_Silent_p.A454A	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	538					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		GCGTGGACGCGGCAGAGGGGC	0.692													3	21	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32676131	32676131	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr13:32676131G>T	ENST00000380250.3	+	3	798	c.302G>T	c.(301-303)gGa>gTa	p.G101V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTGCAACGTGGAGAAGACCCC	0.333													5	78	---	---	---	---
SERPINA13P	388007	broad.mit.edu	37	14	95109845	95109845	+	RNA	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr14:95109845C>A	ENST00000469935.1	+	0	882					NR_015340.1																						GCCACCAGCCCAAAGGAGTTC	0.577													4	61	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62204152	62204152	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:62204152G>C	ENST00000261517.5	-	63	8675	c.8602C>G	c.(8602-8604)Ctg>Gtg	p.L2868V	VPS13C_ENST00000395896.4_Missense_Mutation_p.L2868V|VPS13C_ENST00000395898.3_Missense_Mutation_p.L2825V|VPS13C_ENST00000249837.3_Missense_Mutation_p.L2825V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2868					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAGGGAGTCAGGGTAACTATT	0.368													12	53	---	---	---	---
SMAD6	4091	broad.mit.edu	37	15	67073658	67073658	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:67073658G>T	ENST00000288840.5	+	4	2307	c.1276G>T	c.(1276-1278)Gtc>Ttc	p.V426F	SMAD6_ENST00000338426.4_Missense_Mutation_p.V165F	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	426	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						CCGCGCCCTGGTCGTGCGCAA	0.731													9	42	---	---	---	---
PCSK6	5046	broad.mit.edu	37	15	101983834	101983834	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:101983834T>C	ENST00000348070.1	-	3	325	c.326A>G	c.(325-327)tAt>tGt	p.Y109C	PCSK6_ENST00000398181.2_Missense_Mutation_p.Y109C|PCSK6_ENST00000344273.2_Missense_Mutation_p.Y109C|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.Y109C	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	110					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTTGCTGTGATAAAAATGGTA	0.443													26	169	---	---	---	---
IRF8	3394	broad.mit.edu	37	16	85936654	85936654	+	Silent	SNP	A	A	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr16:85936654A>C	ENST00000268638.5	+	2	455	c.33A>C	c.(31-33)cgA>cgC	p.R11R	IRF8_ENST00000563180.1_Silent_p.R11R	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	11					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GGCGGCTTCGACAGTGGCTGA	0.488													27	167	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578404	7578404	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:7578404A>G	ENST00000420246.2	-	5	658	c.526T>C	c.(526-528)Tgc>Cgc	p.C176R	TP53_ENST00000359597.4_Missense_Mutation_p.C176R|TP53_ENST00000413465.2_Missense_Mutation_p.C176R|TP53_ENST00000445888.2_Missense_Mutation_p.C176R|TP53_ENST00000269305.4_Missense_Mutation_p.C176R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.C176R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (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.C176S(10)|p.C176R(8)|p.0?(8)|p.C176fs*71(7)|p.C176G(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.C44G(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C83G(1)|p.C176fs*6(1)|p.R174fs*3(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)		TGGTGGGGGCAGCGCCTCACA	0.647		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)			22	56	---	---	---	---
TNS4	84951	broad.mit.edu	37	17	38638448	38638448	+	Silent	SNP	A	A	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:38638448A>T	ENST00000254051.6	-	8	1763	c.1605T>A	c.(1603-1605)tcT>tcA	p.S535S		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	535	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACACGAAGGCAGAGAGGCTCC	0.622													4	47	---	---	---	---
ITGB4	3691	broad.mit.edu	37	17	73725380	73725380	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:73725380T>G	ENST00000200181.3	+	7	788	c.601T>G	c.(601-603)Ttc>Gtc	p.F201V	ITGB4_ENST00000579662.1_Missense_Mutation_p.F201V|ITGB4_ENST00000450894.3_Missense_Mutation_p.F201V|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.F201V|ITGB4_ENST00000339591.3_Missense_Mutation_p.F201V	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	201	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGACCCCCCCTTCTCCTTCAA	0.607													11	71	---	---	---	---
PYCR1	5831	broad.mit.edu	37	17	79892256	79892256	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:79892256C>A	ENST00000337943.5	-	6	1185	c.743G>T	c.(742-744)gGg>gTg	p.G248V	PYCR1_ENST00000329875.8_Missense_Mutation_p.G248V|PYCR1_ENST00000577756.1_Intron|PYCR1_ENST00000402252.2_Missense_Mutation_p.G275V|PYCR1_ENST00000403172.4_Missense_Mutation_p.G217V	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	248					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	GCGGAAGCCCCCACTCTCCAG	0.642													4	38	---	---	---	---
CEP76	79959	broad.mit.edu	37	18	12678245	12678245	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr18:12678245T>C	ENST00000262127.2	-	10	1711	c.1486A>G	c.(1486-1488)Att>Gtt	p.I496V	CEP76_ENST00000423709.2_Missense_Mutation_p.I421V|PSMG2_ENST00000589405.1_Intron|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	496					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACAGATTTAATTGCTTCCTCA	0.433													40	122	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74587566	74587566	+	Silent	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr18:74587566C>A	ENST00000253159.8	+	6	978	c.780C>A	c.(778-780)gcC>gcA	p.A260A	ZNF236_ENST00000320610.9_Silent_p.A262A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	260					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCTGTCCTGCCGCCTTCTCTC	0.532											OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	137	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16902377	16902377	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr19:16902377T>G	ENST00000524140.2	+	14	3575	c.3157T>G	c.(3157-3159)Tca>Gca	p.S1053A	NWD1_ENST00000549814.1_Missense_Mutation_p.S1053A|NWD1_ENST00000523826.1_Missense_Mutation_p.S847A|NWD1_ENST00000339803.6_Missense_Mutation_p.S918A|NWD1_ENST00000379808.3_Missense_Mutation_p.S1053A|NWD1_ENST00000552788.1_Missense_Mutation_p.S1053A	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1053							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGTGCCGTCTCAGTCCAGAA	0.478													13	141	---	---	---	---
LILRA1	11024	broad.mit.edu	37	19	55106382	55106382	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr19:55106382C>T	ENST00000453777.1	+	4	493	c.323C>T	c.(322-324)tCa>tTa	p.S108L	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.S108L|LILRB1_ENST00000396321.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	108	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCAGGCTGGTCAGAGCCCAGT	0.612													28	72	---	---	---	---
ZNF551	90233	broad.mit.edu	37	19	58198616	58198616	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr19:58198616C>A	ENST00000282296.5	+	3	1158	c.973C>A	c.(973-975)Cac>Aac	p.H325N	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.H309N			Q7Z340	ZN551_HUMAN	zinc finger protein 551	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATTCATTCACCACCAGAGACG	0.428													4	91	---	---	---	---
TUBGCP6	85378	broad.mit.edu	37	22	50658944	50658944	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr22:50658944G>C	ENST00000439308.2	-	16	4336	c.3844C>G	c.(3844-3846)Ctc>Gtc	p.L1282V	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.L1282V|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1282					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCTGGTGAGAGAGCCCCCAGC	0.652													6	27	---	---	---	---
ZNF449	203523	broad.mit.edu	37	X	134494270	134494270	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chrX:134494270C>A	ENST00000339249.4	+	5	966	c.826C>A	c.(826-828)Ccc>Acc	p.P276T		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	276					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATGGGAAACCCCCCCAGAGGA	0.438													4	76	---	---	---	---
CD63	967	broad.mit.edu	37	12	56119956	56119956	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr12:56119956delA	ENST00000549117.1	-	6	952	c.516delT	c.(514-516)aatfs	p.N172fs	CD63_ENST00000552754.1_Frame_Shift_Del_p.N149fs|CD63_ENST00000552692.1_Frame_Shift_Del_p.N172fs|CD63_ENST00000420846.3_Frame_Shift_Del_p.N172fs|CD63_ENST00000548160.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000546939.1_Frame_Shift_Del_p.N90fs|CD63_ENST00000552067.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000548898.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000257857.4_Frame_Shift_Del_p.N172fs|CD63_ENST00000550776.1_Frame_Shift_Del_p.N90fs	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	172					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						CCACAGTAACATTAATGCAGC	0.498													13	99	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72831219	72831223	+	Frame_Shift_Del	DEL	GCAGG	GCAGG	-			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr16:72831219_72831223delGCAGG	ENST00000268489.5	-	9	6030_6034	c.5358_5362delCCTGC	c.(5356-5364)accctgctgfs	p.LL1787fs	ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.LL873fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1787					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGTAGTTGCAGCAGGGTCTCAGTTG	0.580													7	146	---	---	---	---
TSPAN7	7102	broad.mit.edu	37	X	38525456	38525456	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chrX:38525456delT	ENST00000378482.2	+	2	340	c.163delT	c.(163-165)tccfs	p.S55fs	TM4SF2_ENST00000465127.1_Frame_Shift_Del_p.S85fs|TSPAN7_ENST00000488893.1_3'UTR|TSPAN7_ENST00000422612.2_Frame_Shift_Del_p.S81fs|TSPAN7_ENST00000545599.1_Frame_Shift_Del_p.S29fs|TSPAN7_ENST00000286824.6_Frame_Shift_Del_p.S72fs	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	55					interspecies interaction between organisms	integral to plasma membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCCGAGAACTCCACAAATGC	0.512													17	38	---	---	---	---
