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
KCNH4	23415	broad.mit.edu	37	17	40327728	40327728	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:40327728A>G	ENST00000264661.3	-	6	1188	c.856T>C	c.(856-858)Tat>Cat	p.Y286H	KCNH4_ENST00000607371.1_Missense_Mutation_p.Y286H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	286					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGGACACATAGGTGGTGCGG	0.552000													3	139					0	0	0.004672	0	0
MAP4K3	8491	broad.mit.edu	37	2	39485697	39485697	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:39485697G>A	ENST00000263881.3	-	30	2664	c.2340C>T	c.(2338-2340)acC>acT	p.T780T	MAP4K3_ENST00000536018.1_Silent_p.T333T|MAP4K3_ENST00000341681.5_Silent_p.T759T|MAP4K3_ENST00000437545.1_Silent_p.T696T	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	780	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TCTCCAGTTGGGTTACATGAG	0.328000													7	40					0	0	0.003080	0	0
STAB2	55576	broad.mit.edu	37	12	104067821	104067821	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:104067821C>T	ENST00000388887.2	+	23	2712	c.2508C>T	c.(2506-2508)ttC>ttT	p.F836F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	836	EGF-like 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACGTGCAGTTCTGTCACATCC	0.562000													23	53					0	0	0.024334	0	0
TFDP2	7029	broad.mit.edu	37	3	141692899	141692899	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr3:141692899C>T	ENST00000499676.2	-	8	1145	c.474G>A	c.(472-474)caG>caA	p.Q158Q	TFDP2_ENST00000495310.1_Silent_p.Q121Q|TFDP2_ENST00000489671.1_Silent_p.Q218Q|TFDP2_ENST00000486111.1_Silent_p.Q158Q|TFDP2_ENST00000397991.4_Silent_p.Q190Q|TFDP2_ENST00000479040.1_Silent_p.Q157Q|TFDP2_ENST00000477292.1_Silent_p.Q82Q|TFDP2_ENST00000310282.6_Silent_p.Q158Q|TFDP2_ENST00000317104.7_Silent_p.Q142Q|TFDP2_ENST00000467072.1_Silent_p.Q158Q	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	218					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						CCTCCAGATTCTGACATTCCT	0.303000													31	82					0	0	0.019004	0	0
AOX1	316	broad.mit.edu	37	2	201507512	201507512	+	Silent	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:201507512A>G	ENST00000374700.2	+	25	3076	c.2835A>G	c.(2833-2835)ctA>ctG	p.L945L	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	945					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AATGTGGACTATCCCCTGAGA	0.488000													9	59					0	0	0.008291	0	0
ECE1	1889	broad.mit.edu	37	1	21599368	21599368	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:21599368G>A	ENST00000415912.2	-	4	394	c.269C>T	c.(268-270)tCa>tTa	p.S90L	ECE1_ENST00000436918.2_Missense_Mutation_p.S106L|ECE1_ENST00000374893.6_Missense_Mutation_p.S106L|ECE1_ENST00000357071.4_Missense_Mutation_p.S94L|ECE1_ENST00000264205.6_Missense_Mutation_p.S103L	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	106					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GCTGGTCACTGAGACACAAGC	0.597000													10	80					0	0	0.008291	0	0
C9orf96	169436	broad.mit.edu	37	9	136260872	136260872	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr9:136260872C>T	ENST00000371957.3	+	9	955	c.848C>T	c.(847-849)tCg>tTg	p.S283L	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	283	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ATCGACCCCTCGGATCGAATA	0.493000													12	87					0	0	0.020292	0	0
MPP2	4355	broad.mit.edu	37	17	41956730	41956730	+	Silent	SNP	C	C	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:41956730C>A	ENST00000269095.4	-	12	1699	c.1395G>T	c.(1393-1395)gtG>gtT	p.V465V	MPP2_ENST00000461854.1_Silent_p.V489V|MPP2_ENST00000518766.1_Silent_p.V510V|MPP2_ENST00000523501.1_Silent_p.V454V|MPP2_ENST00000377184.3_Silent_p.V482V|MPP2_ENST00000520305.1_Silent_p.V326V|MPP2_ENST00000536246.1_Silent_p.V454V	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	489	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CGATGAACACCACGTAAGGGA	0.582000													18	78					5.3912e-06	5.71885e-06	0.006122	1	0
ATG4D	84971	broad.mit.edu	37	19	10663623	10663623	+	Silent	SNP	T	T	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:10663623T>A	ENST00000309469.4	+	10	1478	c.1305T>A	c.(1303-1305)gcT>gcA	p.A435A	ATG4D_ENST00000540862.1_Silent_p.A102A	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	435					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)			AGGGCCATGCTCAGGACCACA	0.672000													13	61					0	0	0.016723	0	0
TP53I13	90313	broad.mit.edu	37	17	27896356	27896356	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:27896356C>T	ENST00000301057.7	+	3	277	c.162C>T	c.(160-162)taC>taT	p.Y54Y	RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	54						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		GAGTGACCTACACACGAGTGA	0.622000													5	29					0	0	0.021553	0	0
KLHL32	114792	broad.mit.edu	37	6	97414959	97414959	+	Splice_Site	SNP	G	G	C			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:97414959G>C	ENST00000369261.4	+	2	386	c.23_splice	c.e2+1	p.S8_splice	KLHL32_ENST00000539200.1_Splice_Site_p.S8_splice|KLHL32_ENST00000536676.1_Splice_Site_p.S8_splice|KLHL32_ENST00000544166.1_5'UTR	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	8										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CGCTGCCTCAGGTATGCCCTG	0.483000													5	12					0	0	0.001984	0	0
SLC35F4	341880	broad.mit.edu	37	14	58056063	58056063	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr14:58056063T>C	ENST00000556826.1	-	3	694	c.458A>G	c.(457-459)tAt>tGt	p.Y153C	SLC35F4_ENST00000339762.6_Missense_Mutation_p.Y189C|SLC35F4_ENST00000554729.1_Missense_Mutation_p.Y30C	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAAGTTCTTATAAGTAATTTT	0.393000													18	32					0	0	0.006122	0	0
HSD17B4	3295	broad.mit.edu	37	5	118865640	118865640	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr5:118865640C>T	ENST00000504811.1	+	22	2078	c.1894C>T	c.(1894-1896)Cca>Tca	p.P632S	HSD17B4_ENST00000414835.2_Missense_Mutation_p.P467S|HSD17B4_ENST00000510025.1_Missense_Mutation_p.P583S|HSD17B4_ENST00000509514.1_Missense_Mutation_p.P345S|HSD17B4_ENST00000513628.1_Missense_Mutation_p.P470S|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000515320.1_Missense_Mutation_p.P589S|HSD17B4_ENST00000256216.6_Missense_Mutation_p.P607S	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	607	SCP2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	GGATCTTGCACCAACATCTGG	0.363000													7	70					0	0	0.004482	0	0
HIST1H2AG	8969	broad.mit.edu	37	6	27101060	27101060	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:27101060G>A	ENST00000359193.2	+	1	229	c.210G>A	c.(208-210)gcG>gcA	p.A70A		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	70					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						CGGGCAACGCGGCCCGCGACA	0.647000													28	52					0	0	0.008361	0	0
KIAA1683	80726	broad.mit.edu	37	19	18376204	18376204	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:18376204T>A	ENST00000392413.3	-	3	2361	c.2146A>T	c.(2146-2148)Atg>Ttg	p.M716L	KIAA1683_ENST00000600328.2_Missense_Mutation_p.M716L|KIAA1683_ENST00000600359.2_Missense_Mutation_p.M670L	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	716						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGGGAATGCATCTTGCTCAGA	0.627000													8	54					0	0	0.003080	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188443	140188443	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr5:140188443C>T	ENST00000530339.1	+	1	1671	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.D557D|PCDHA4_ENST00000512229.2_Silent_p.D557D|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAAAACGACA	0.667000													7	50					0	0	0.001984	0	0
PPFIA2	8499	broad.mit.edu	37	12	81839428	81839428	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:81839428C>T	ENST00000550584.2	-	5	772	c.477G>A	c.(475-477)cgG>cgA	p.R159R	PPFIA2_ENST00000549325.1_Silent_p.R141R|PPFIA2_ENST00000549396.1_Silent_p.R159R|PPFIA2_ENST00000443686.3_Silent_p.R85R|PPFIA2_ENST00000548586.1_Silent_p.R159R|PPFIA2_ENST00000550359.2_Silent_p.R6R|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000407050.4_Silent_p.R85R|PPFIA2_ENST00000333447.7_Silent_p.R141R|PPFIA2_ENST00000552948.1_Silent_p.R159R|PPFIA2_ENST00000545296.2_5'UTR	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	85								p.R159R(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACTGGGCTTGCCGTTTTACCA	0.428000													3	48					0	0	0.004672	0	0
ACTR1B	10120	broad.mit.edu	37	2	98275416	98275416	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:98275416C>T	ENST00000289228.5	-	5	582	c.366G>A	c.(364-366)gaG>gaA	p.E122E		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	122						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CTGCCGCCTTCTCCCGGTTCT	0.607000													25	348					0	0	0.024334	0	0
WDR11	55717	broad.mit.edu	37	10	122668114	122668114	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr10:122668114G>A	ENST00000263461.6	+	29	3810	c.3564G>A	c.(3562-3564)aaG>aaA	p.K1188K	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	1188						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GGAGTTTGAAGAACCTCGGTT	0.438000													5	89					0	0	0.021553	0	0
CT45A5	441521	broad.mit.edu	37	X	134947917	134947917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chrX:134947917G>T	ENST00000370724.3	-	3	652	c.408C>A	c.(406-408)tgC>tgA	p.C136*	CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Nonsense_Mutation_p.C136*	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	136										endometrium(1)|large_intestine(2)|lung(6)	9						TTCGTCCAAGGCATCGGATTT	0.398000													26	95					2.27525e-19	2.51062e-19	0.021523	1	0
EBNA1BP2	10969	broad.mit.edu	37	1	43637162	43637162	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:43637162C>T	ENST00000431635.2	-	4	624	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	EBNA1BP2_ENST00000472982.1_5'UTR|EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.R104Q	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	104					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACTCATCTCTCGCTGGAAGTC	0.493000													15	126					0	0	0.004990	0	0
OTOF	9381	broad.mit.edu	37	2	26750743	26750743	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:26750743G>C	ENST00000272371.2	-	3	310	c.184C>G	c.(184-186)Ctg>Gtg	p.L62V	OTOF_ENST00000403946.3_Missense_Mutation_p.L62V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	62					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAATCTCCAGCATCTCATTT	0.577000													11	79					0	0	0.010729	0	0
TET2	54790	broad.mit.edu	37	4	106156428	106156428	+	Silent	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:106156428A>G	ENST00000540549.1	+	3	2189	c.1329A>G	c.(1327-1329)acA>acG	p.T443T	TET2_ENST00000545826.1_Silent_p.T443T|TET2_ENST00000413648.2_Silent_p.T443T|TET2_ENST00000513237.1_Silent_p.T464T|TET2_ENST00000394764.1_Silent_p.T443T|TET2_ENST00000380013.4_Silent_p.T443T|TET2_ENST00000305737.2_Silent_p.T443T			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	443					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AAAGTAACACAACACTTTTAA	0.463000			"""Mis N, F"""		MDS								22	45					0	0	0.014323	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110036199	110036199	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:110036199G>A	ENST00000453089.2	+	5	3177	c.2296G>A	c.(2296-2298)Gat>Aat	p.D766N	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D798N|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.D797N			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	797							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TTCCTTGCCCGATAACTCCAC	0.572000													3	40					0	0	0.004672	0	0
TRIM56	81844	broad.mit.edu	37	7	100731849	100731849	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr7:100731849C>T	ENST00000306085.6	+	3	1553	c.1256C>T	c.(1255-1257)cCa>cTa	p.P419L		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	419					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCCAGACCCCAAAAGAGGAA	0.642000													10	75					0	0	0.016723	0	0
TRPC4	7223	broad.mit.edu	37	13	38357421	38357421	+	Missense_Mutation	SNP	C	C	T	rs75129764	byFrequency	TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr13:38357421C>T	ENST00000379705.3	-	2	907	c.50G>A	c.(49-51)cGc>cAc	p.R17H	TRPC4_ENST00000447043.1_Missense_Mutation_p.R17H|TRPC4_ENST00000338947.5_Missense_Mutation_p.R17H|TRPC4_ENST00000379673.2_Missense_Mutation_p.R17H|TRPC4_ENST00000355779.2_Missense_Mutation_p.R17H|TRPC4_ENST00000358477.2_Missense_Mutation_p.R17H|TRPC4_ENST00000379681.3_Missense_Mutation_p.R17H|TRPC4_ENST00000379679.1_Missense_Mutation_p.R17H|TRPC4_ENST00000426868.2_Missense_Mutation_p.R17H			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	17					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TAGAGGGATGCGGTCTCTATA	0.398000													4	125					0	0	0.009096	0	0
GSTA5	221357	broad.mit.edu	37	6	52701052	52701052	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:52701052T>C	ENST00000370989.1	-	4	412	c.254A>G	c.(253-255)gAc>gGc	p.D85G	GSTA5_ENST00000284562.2_Missense_Mutation_p.D85G|GSTA5_ENST00000475052.1_Intron			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	85	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CTCCTTCATGTCTTTCCCATA	0.453000													53	122					0	0	0.014410	0	0
ART1	417	broad.mit.edu	37	11	3681285	3681285	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:3681285G>T	ENST00000250693.1	+	3	637	c.536G>T	c.(535-537)cGa>cTa	p.R179L		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	179					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CAGGTGTTCCGAGGTGTGCAC	0.672000													14	18					4.3838e-07	4.72859e-07	0.016723	1	0
BSN	8927	broad.mit.edu	37	3	49689519	49689519	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr3:49689519C>T	ENST00000296452.4	+	5	2644	c.2530C>T	c.(2530-2532)Cga>Tga	p.R844*		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	844					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGATTTCATGCGACGGCAGAT	0.622000													12	24					0	0	0.013537	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276860	71276860	+	Missense_Mutation	SNP	C	C	G	rs36179995		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:71276860C>G	ENST00000398531.1	+	1	252	c.227C>G	c.(226-228)tCt>tGt	p.S76C	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	76	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GACTGTGGCTCTTGTGGGGGC	0.677000													94	273					0	0	0.014410	0	0
BRWD1	54014	broad.mit.edu	37	21	40604128	40604128	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr21:40604128T>A	ENST00000342449.3	-	25	3053	c.2975A>T	c.(2974-2976)gAg>gTg	p.E992V	BRWD1_ENST00000333229.2_Missense_Mutation_p.E992V|BRWD1_ENST00000380800.3_Missense_Mutation_p.E992V	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	992					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCTCCATGGCTCCTTATTAGG	0.299000													15	39					0	0	0.024245	0	0
MBOAT2	129642	broad.mit.edu	37	2	9008678	9008678	+	Splice_Site	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:9008678A>G	ENST00000305997.3	-	9	1083	c.883_splice	c.e9-1	p.A295_splice	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	295					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAATGGCATCAGCTATAGAAA	0.333000													3	96					0	0	0.004672	0	0
USP34	9736	broad.mit.edu	37	2	61492562	61492562	+	Silent	SNP	A	A	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:61492562A>T	ENST00000398571.2	-	43	5824	c.5748T>A	c.(5746-5748)ccT>ccA	p.P1916P		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1916					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTCTTGCCTCAGGTATCATAT	0.338000													15	85					0	0	0.028581	0	0
CLEC17A	388512	broad.mit.edu	37	19	14707912	14707912	+	Splice_Site	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:14707912C>T	ENST00000547437.1	+	10	662	c.583_splice	c.e10-1	p.Y195_splice	CLEC17A_ENST00000417570.1_Splice_Site_p.Y195_splice|CLEC17A_ENST00000397439.2_Splice_Site_p.Y178_splice	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	195						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										TCTTCATAGACCAGGAGTTGA	0.493000													3	18					0	0	0.004672	0	0
SLC12A6	9990	broad.mit.edu	37	15	34526146	34526146	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr15:34526146T>A	ENST00000354181.3	-	26	3881	c.3389A>T	c.(3388-3390)gAg>gTg	p.E1130V	SLC12A6_ENST00000458406.2_Missense_Mutation_p.E1071V|SLC12A6_ENST00000397707.2_Missense_Mutation_p.E1115V|SLC12A6_ENST00000558589.1_Missense_Mutation_p.E1121V|SLC12A6_ENST00000560611.1_Missense_Mutation_p.E1130V|SLC12A6_ENST00000451844.2_Missense_Mutation_p.E942V|SLC12A6_ENST00000558667.1_Missense_Mutation_p.E1130V|SLC12A6_ENST00000290209.5_Missense_Mutation_p.E1079V|SLC12A6_ENST00000560164.1_Missense_Mutation_p.E942V|SLC12A6_ENST00000397702.2_Missense_Mutation_p.E1071V			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	1130					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTCTAGTCCCTCGGTAAGCAC	0.453000													10	59					0	0	0.013537	0	0
LRRK2	120892	broad.mit.edu	37	12	40651163	40651163	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:40651163C>T	ENST00000298910.7	+	12	1460	c.1402C>T	c.(1402-1404)Cat>Tat	p.H468Y	LRRK2_ENST00000343742.2_Missense_Mutation_p.H468Y	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	468					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AATGCTAAATCATCTTTTTGA	0.318000													13	120					0	0	0.020292	0	0
AHNAK	79026	broad.mit.edu	37	11	62294494	62294494	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:62294494G>A	ENST00000378024.4	-	5	7669	c.7395C>T	c.(7393-7395)ccC>ccT	p.P2465P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2465					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTGATTTTGGGTCCTTTGA	0.443000													23	216					0	0	0.018920	0	0
TEX2	55852	broad.mit.edu	37	17	62291153	62291153	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:62291153C>T	ENST00000258991.3	-	2	509	c.425G>A	c.(424-426)gGg>gAg	p.G142E	TEX2_ENST00000583097.1_Missense_Mutation_p.G142E|TEX2_ENST00000584379.1_Missense_Mutation_p.G142E			Q8IWB9	TEX2_HUMAN	testis expressed 2	142					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGCTAAGGGCCCCGACGAAGA	0.527000													11	109					0	0	0.008291	0	0
C10orf68	79741	broad.mit.edu	37	10	33094002	33094002	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr10:33094002A>G	ENST00000375028.3	+	9	884	c.814A>G	c.(814-816)Aag>Gag	p.K272E	C10orf68_ENST00000375030.2_Intron|C10orf68_ENST00000375025.4_Missense_Mutation_p.K332E			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	296										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TGATGAATTCAAGACACAGTC	0.308000													3	166					0	0	0.021553	0	0
EPN3	55040	broad.mit.edu	37	17	48618855	48618855	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:48618855G>A	ENST00000268933.3	+	9	1964	c.1385G>A	c.(1384-1386)aGt>aAt	p.S462N	EPN3_ENST00000537145.1_Missense_Mutation_p.S490N|EPN3_ENST00000541226.1_3'UTR	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	462						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CCCAGCCCCAGTTCCAAGCAA	0.577000													6	50					0	0	0.003080	0	0
C6orf211	79624	broad.mit.edu	37	6	151785628	151785628	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:151785628G>A	ENST00000367294.3	+	4	692	c.433G>A	c.(433-435)Gag>Aag	p.E145K	C6orf211_ENST00000483931.1_3'UTR|C6orf211_ENST00000545879.1_Missense_Mutation_p.E26K	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	145							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		AGAATCAAAAGAGCAAAATTT	0.328000													6	37					0	0	0.021553	0	0
OR2T11	127077	broad.mit.edu	37	1	248790265	248790265	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:248790265G>A	ENST00000330803.2	-	1	226	c.165C>T	c.(163-165)ccC>ccT	p.P55P		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAAAGTACATGGGGGTGTGGA	0.468000													6	69					0	0	0.001984	0	0
ZNF597	146434	broad.mit.edu	37	16	3486915	3486915	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr16:3486915G>A	ENST00000301744.4	-	4	1019	c.784C>T	c.(784-786)Cac>Tac	p.H262Y	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TCAGCACTGTGGCTTTTCTGA	0.438000													14	120					0	0	0.004990	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316179	30316179	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr10:30316179G>A	ENST00000375377.1	-	3	2999	c.2898C>T	c.(2896-2898)gaC>gaT	p.D966D		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	966										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTGCCAGCTCGTCCATTCCGT	0.567000													20	59					0	0	0.010504	0	0
SHANK2	22941	broad.mit.edu	37	11	70332040	70332040	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:70332040G>A	ENST00000338508.4	-	32	4360	c.4361C>T	c.(4360-4362)tCc>tTc	p.S1454F	SHANK2_ENST00000449833.2_Missense_Mutation_p.S858F|SHANK2_ENST00000423696.2_Missense_Mutation_p.S1074F|SHANK2_ENST00000409161.1_Missense_Mutation_p.S857F			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1074	SAM.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGGTTGGCTGGAGTTCAACGA	0.547000													8	297					0	0	0.003080	0	0
KTI12	112970	broad.mit.edu	37	1	52499004	52499004	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:52499004C>T	ENST00000371614.1	-	1	484	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	TXNDC12_ENST00000472624.1_Intron|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	144							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						GCCGCCTGGGCTCTCCCGTCC	0.672000													21	72					0	0	0.024334	0	0
FHL5	9457	broad.mit.edu	37	6	97052644	97052644	+	Missense_Mutation	SNP	C	C	T	rs145856574	byFrequency	TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:97052644C>T	ENST00000326771.2	+	4	558	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	FHL5_ENST00000541107.1_Missense_Mutation_p.R60W	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	60	LIM zinc-binding 1.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TTACAAAGACCGGCACTGGCA	0.433000													10	56					0	0	0.008291	0	0
EPB41L3	23136	broad.mit.edu	37	18	5397374	5397374	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr18:5397374G>C	ENST00000341928.2	-	18	2864	c.2524C>G	c.(2524-2526)Cac>Gac	p.H842D	EPB41L3_ENST00000544123.1_Missense_Mutation_p.H673D|EPB41L3_ENST00000540638.2_Missense_Mutation_p.H620D|EPB41L3_ENST00000400111.3_Missense_Mutation_p.H620D|EPB41L3_ENST00000342933.3_Missense_Mutation_p.H842D|EPB41L3_ENST00000542146.1_Missense_Mutation_p.H147D|EPB41L3_ENST00000427684.2_Missense_Mutation_p.H139D|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	842	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGCAGGTGGTGCACGGTGGGT	0.567000													14	52					0	0	0.020292	0	0
RANBP10	57610	broad.mit.edu	37	16	67778207	67778207	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr16:67778207C>T	ENST00000317506.3	-	4	667	c.552G>A	c.(550-552)aaG>aaA	p.K184K	RANBP10_ENST00000448631.2_Intron|RANBP10_ENST00000411657.2_Silent_p.K67K|RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000425512.2_Silent_p.K52K|RANBP10_ENST00000602887.1_5'UTR|RANBP10_ENST00000602677.1_Silent_p.K184K	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	184	B30.2/SPRY.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		TGTGGCCATTCTTGGTGTAGA	0.582000													6	70					0	0	0.003080	0	0
MAP3K19	80122	broad.mit.edu	37	2	135744631	135744631	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:135744631T>A	ENST00000375845.3	-	7	1841	c.1811A>T	c.(1810-1812)cAc>cTc	p.H604L	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.H491L|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.H621L	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		CTGAGTCCGGTGAGTTGATTG	0.453000													28	132					0	0	0.027356	0	0
MARCH7	64844	broad.mit.edu	37	2	160599714	160599714	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:160599714G>A	ENST00000259050.3	+	3	418	c.296G>A	c.(295-297)tGt>tAt	p.C99Y	MARCH7_ENST00000539065.1_Missense_Mutation_p.C99Y|MARCH7_ENST00000473749.1_3'UTR|MARCH7_ENST00000409591.1_Missense_Mutation_p.C61Y|MARCH7_ENST00000409175.1_Missense_Mutation_p.C99Y	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	99	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGTACAAACTGTACTACCTCA	0.403000													10	56					0	0	0.010729	0	0
ZNF501	115560	broad.mit.edu	37	3	44776296	44776296	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr3:44776296A>G	ENST00000396048.2	+	3	820	c.383A>G	c.(382-384)cAt>cGt	p.H128R		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		CAGCGAATTCATACTGGAGAG	0.408000													18	33					0	0	0.007413	0	0
GOT1	2805	broad.mit.edu	37	10	101190305	101190305	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr10:101190305G>A	ENST00000370508.5	-	1	45	c.18C>T	c.(16-18)gtC>gtT	p.V6V	GOT1_ENST00000471741.1_5'UTR	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	6					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCTCGGCAAAGACTGACGGAG	0.617000													13	93					0	0	0.013537	0	0
HIST1H2BB	3018	broad.mit.edu	37	6	26043662	26043662	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:26043662G>A	ENST00000357905.2	-	1	223	c.224C>T	c.(223-225)gCg>gTg	p.A75V		NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	75					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						AGCCTCGCCCGCGATGCGCTC	0.597000													36	89					0	0	0.017118	0	0
ANAPC1	64682	broad.mit.edu	37	2	112608479	112608479	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:112608479C>A	ENST00000341068.3	-	14	2296	c.1524G>T	c.(1522-1524)aaG>aaT	p.K508N		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	508					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GAATAAAAACCTTTCCCACCT	0.378000													4	20					5.9392e-07	6.37054e-07	0.021553	1	0
FAM13C	220965	broad.mit.edu	37	10	61022290	61022290	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr10:61022290G>A	ENST00000373867.3	-	11	1356	c.891C>T	c.(889-891)ggC>ggT	p.G297G	FAM13C_ENST00000442566.3_Silent_p.G401G|FAM13C_ENST00000277705.6_Silent_p.G401G|FAM13C_ENST00000468840.2_Silent_p.G297G|FAM13C_ENST00000422313.2_Silent_p.G380G|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000373868.2_Silent_p.G380G|FAM13C_ENST00000435852.2_Silent_p.G380G	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	380										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTGGCTCCGGGCCCGCAGCTT	0.547000													7	64					0	0	0.004482	0	0
DENND2D	79961	broad.mit.edu	37	1	111731345	111731345	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:111731345G>A	ENST00000357640.4	-	10	1307	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	DENND2D_ENST00000369752.5_Nonsense_Mutation_p.Q357*	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	360										breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TTGATCCCCTGACCAAGAGAG	0.468000													8	207					0	0	0.008291	0	0
MED12	9968	broad.mit.edu	37	X	70356763	70356763	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chrX:70356763A>G	ENST00000333646.6	+	38	5634	c.5435A>G	c.(5434-5436)tAt>tGt	p.Y1812C	MED12_ENST00000374080.3_Missense_Mutation_p.Y1812C|MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374102.1_Missense_Mutation_p.Y1812C	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1812	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGCGGCCCTTATGGTGTGACA	0.592000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						15	42					0	0	0.024245	0	0
LRRC66	339977	broad.mit.edu	37	4	52861044	52861044	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:52861044G>A	ENST00000343457.3	-	4	2150	c.2144C>T	c.(2143-2145)tCc>tTc	p.S715F		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	715						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGAACTTATGGAGCTCAGAGT	0.527000													4	87					0	0	0.009096	0	0
KRR1	11103	broad.mit.edu	37	12	75905362	75905362	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:75905362G>A	ENST00000229214.4	-	1	39	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	KRR1_ENST00000438169.2_Silent_p.L6L	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	6					rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GGCCGCTCCAGCGAGGGAGAC	0.527000													6	69					0	0	0.006214	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461426	5461426	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr5:5461426C>A	ENST00000296564.7	+	13	2201	c.1979C>A	c.(1978-1980)aCt>aAt	p.T660N		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	660										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ACAGATATTACTACTAAAGTA	0.393000													16	62					4.7546e-09	5.18684e-09	0.028581	1	0
DROSHA	29102	broad.mit.edu	37	5	31409214	31409214	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr5:31409214C>T	ENST00000511367.2	-	32	4047	c.3803G>A	c.(3802-3804)tGt>tAt	p.C1268Y	DROSHA_ENST00000442743.1_Missense_Mutation_p.C1231Y|DROSHA_ENST00000344624.3_Missense_Mutation_p.C1268Y|DROSHA_ENST00000513349.1_Missense_Mutation_p.C1231Y	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1268	DRBM.|Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TGTCAAGCAACACTGCTGAAG	0.453000													8	51					0	0	0.004482	0	0
CLCA4	22802	broad.mit.edu	37	1	87012825	87012825	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:87012825T>C	ENST00000370563.3	+	1	65	c.23T>C	c.(22-24)gTt>gCt	p.V8A		NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	8						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AGAGGTTTTGTTTTCCTCTTA	0.363000													11	98					0	0	0.016723	0	0
ZADH2	284273	broad.mit.edu	37	18	72914175	72914175	+	Silent	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr18:72914175A>G	ENST00000322342.3	-	2	619	c.330T>C	c.(328-330)tcT>tcC	p.S110S	ZADH2_ENST00000537114.2_5'UTR	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	110						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		TGGCACTAGCAGAGAGGCCTA	0.537000													12	108					0	0	0.013537	0	0
ANKRD2	26287	broad.mit.edu	37	10	99340627	99340627	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr10:99340627C>T	ENST00000307518.5	+	5	820	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	ANKRD2_ENST00000298808.5_Silent_p.L185L|ANKRD2_ENST00000455090.1_Silent_p.L158L|ANKRD2_ENST00000370655.1_Silent_p.L158L			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	185					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		TCGGACAGCACTGCACCGAGC	0.627000													3	9					0	0	0.009096	0	0
ZNF90	7643	broad.mit.edu	37	19	20229657	20229657	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:20229657A>G	ENST00000418063.2	+	4	1406	c.1294A>G	c.(1294-1296)Aaa>Gaa	p.K432E	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	432						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						AGAATGTGACAAAGTCTTCAA	0.413000													3	13					0	0	0.004672	0	0
BMP10	27302	broad.mit.edu	37	2	69092867	69092867	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:69092867G>A	ENST00000295379.1	-	2	1329	c.1171C>T	c.(1171-1173)Ccc>Tcc	p.P391S		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	391					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						AGCTTTGTGGGCACACAGCAG	0.512000													4	153					0	0	0.009096	0	0
ARAP2	116984	broad.mit.edu	37	4	36162102	36162102	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:36162102G>A	ENST00000303965.4	-	13	2910	c.2421C>T	c.(2419-2421)ctC>ctT	p.L807L		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	807	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CTTCTTTGGTGAGAGATGCCA	0.289000													3	36					0	0	0.009096	0	0
SEC23B	10483	broad.mit.edu	37	20	18529385	18529385	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr20:18529385T>A	ENST00000336714.3	+	16	2308	c.1876T>A	c.(1876-1878)Tac>Aac	p.Y626N	SEC23B_ENST00000262544.2_Missense_Mutation_p.Y626N|SEC23B_ENST00000377465.1_Missense_Mutation_p.Y626N|SEC23B_ENST00000377475.3_Missense_Mutation_p.Y626N	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	626					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GCCCATTCTCTACTCTTACTC	0.438000													14	52					0	0	0.028581	0	0
DCP1A	55802	broad.mit.edu	37	3	53381537	53381537	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr3:53381537G>A	ENST00000607628.1	-	1	117	c.8C>T	c.(7-9)gCg>gTg	p.A3V	DCP1A_ENST00000294241.6_Missense_Mutation_p.A3V|DCP1A_ENST00000606822.1_Missense_Mutation_p.A3V|DCP1A_ENST00000480258.1_5'UTR	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	3					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		TCGACTCAGCGCCTCCATCTT	0.622000													7	44					0	0	0.006214	0	0
SEC31A	22872	broad.mit.edu	37	4	83774850	83774850	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:83774850A>G	ENST00000432794.1	-	18	2190	c.2027T>C	c.(2026-2028)cTt>cCt	p.L676P	SEC31A_ENST00000311785.7_Missense_Mutation_p.L676P|SEC31A_ENST00000508479.1_Missense_Mutation_p.L676P|SEC31A_ENST00000264405.5_Missense_Mutation_p.L409P|SEC31A_ENST00000509142.1_Missense_Mutation_p.L676P|SEC31A_ENST00000508502.1_Missense_Mutation_p.L676P|SEC31A_ENST00000395310.2_Missense_Mutation_p.L676P|SEC31A_ENST00000505984.1_Missense_Mutation_p.L637P|SEC31A_ENST00000505472.1_Missense_Mutation_p.L676P|SEC31A_ENST00000500777.2_Missense_Mutation_p.L637P|SEC31A_ENST00000448323.1_Missense_Mutation_p.L676P|SEC31A_ENST00000443462.2_Missense_Mutation_p.L671P|SEC31A_ENST00000355196.2_Missense_Mutation_p.L676P|SEC31A_ENST00000348405.4_Missense_Mutation_p.L637P|SEC31A_ENST00000326950.5_Missense_Mutation_p.L637P|SEC31A_ENST00000513858.1_Missense_Mutation_p.L637P			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	676					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTCATTTTCAAGCCTGGTTCC	0.378000													14	40					0	0	0.024245	0	0
CPAMD8	27151	broad.mit.edu	37	19	17057903	17057903	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:17057903C>T	ENST00000443236.1	-	21	2815	c.2784G>A	c.(2782-2784)ctG>ctA	p.L928L		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	881						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGTTGAGTCCCAGGTCGCTGA	0.592000													11	78					0	0	0.013537	0	0
WASH3P	374666	broad.mit.edu	37	15	102516424	102516424	+	RNA	SNP	G	G	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr15:102516424G>T	ENST00000557932.1	+	0	1372																		p.P449P(4)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGCCGCCACCGCAGCAGCCAC	0.647000													6	39					1.58986e-06	1.69585e-06	0.008291	1	0
OR2L8	391190	broad.mit.edu	37	1	248112567	248112567	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:248112567C>A	ENST00000357191.3	+	1	408	c.408C>A	c.(406-408)agC>agA	p.S136R	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCCGCATGAGCAAAAGAGTGT	0.438000													5	239					0.000602214	0.000621641	0.014758	1	0
OR2T6	254879	broad.mit.edu	37	1	248551586	248551586	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:248551586A>C	ENST00000355728.2	+	1	677	c.677A>C	c.(676-678)cAt>cCt	p.H226P		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCACAGTGCATCAGATGACA	0.502000													24	85					0	0	0.024334	0	0
FOCAD	54914	broad.mit.edu	37	9	20881960	20881960	+	Missense_Mutation	SNP	G	G	A	rs150555461		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr9:20881960G>A	ENST00000380249.1	+	22	2772	c.2408G>A	c.(2407-2409)cGc>cAc	p.R803H	FOCAD_ENST00000338382.6_Missense_Mutation_p.R803H|FOCAD_ENST00000605086.1_Missense_Mutation_p.R239H	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	803						integral to membrane	binding										GGAGGTGCCCGCTCAGACCAA	0.418000													5	162					0	0	0.021553	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44219502	44219502	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:44219502G>A	ENST00000371554.1	+	9	1557	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R448H|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R448H			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	448					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	p.R448L(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCACTAACCGCCGCCGCCTG	0.468000													10	103					0	0	0.008291	0	0
OR7A17	26333	broad.mit.edu	37	19	14991892	14991892	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:14991892G>A	ENST00000327462.2	-	1	372	c.276C>T	c.(274-276)atC>atT	p.I92I		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					CTGCATAGGTGATGACTCTGC	0.468000													15	77					0	0	0.028581	0	0
UROD	7389	broad.mit.edu	37	1	45478996	45478996	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:45478996C>T	ENST00000246337.4	+	4	365	c.246C>T	c.(244-246)atC>atT	p.I82I	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	82						cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					ATGCTGCCATCATTTTCTCCG	0.483000									Porphyria Cutanea Tarda, Type II				37	130					0	0	0.008740	0	0
KMT2D	8085	broad.mit.edu	37	12	49434415	49434415	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:49434415G>A	ENST00000301067.7	-	31	7137	c.7138C>T	c.(7138-7140)Cag>Tag	p.Q2380*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.Q2110*(1)|p.Q2380*(1)									AATGGGGGCTGAGCATATGGG	0.652000													4	37					0	0	0.014758	0	0
FUT10	84750	broad.mit.edu	37	8	33246581	33246581	+	Missense_Mutation	SNP	C	C	T	rs17855839		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr8:33246581C>T	ENST00000327671.5	-	4	1743	c.1112G>A	c.(1111-1113)cGg>cAg	p.R371Q	FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000335589.3_Missense_Mutation_p.R309Q|FUT10_ENST00000518672.1_Missense_Mutation_p.R343Q|FUT10_ENST00000524021.1_Missense_Mutation_p.R343Q	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	371			R -> P (in dbSNP:rs17855839).		embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TCCCCATTTCCGTTCCCTGAG	0.478000													37	98					0	0	0.009718	0	0
DNAH8	1769	broad.mit.edu	37	6	38939413	38939413	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:38939413G>A	ENST00000359357.3	+	81	12100	c.11846G>A	c.(11845-11847)cGa>cAa	p.R3949Q	DNAH8_ENST00000449981.2_Missense_Mutation_p.R4166Q|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3913Q					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTACATGCTCGAAAGCTGATT	0.413000													4	31					0	0	0.009096	0	0
THAP9	79725	broad.mit.edu	37	4	83839313	83839313	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:83839313G>A	ENST00000302236.5	+	5	1999	c.1948G>A	c.(1948-1950)Gaa>Aaa	p.E650K	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	650							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATTTCAAGATGAAGTTTTTCT	0.398000													6	50					0	0	0.021553	0	0
RRAGA	10670	broad.mit.edu	37	9	19050493	19050493	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr9:19050493C>T	ENST00000380527.1	+	1	1122	c.836C>T	c.(835-837)cCg>cTg	p.P279L		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	279					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						ATGTCAGATCCGTCGATCCCT	0.512000													8	134					0	0	0.004482	0	0
FAT3	120114	broad.mit.edu	37	11	92624271	92624271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:92624271C>T	ENST00000298047.6	+	27	13779	c.13762C>T	c.(13762-13764)Caa>Taa	p.Q4588*	FAT3_ENST00000525166.1_Nonsense_Mutation_p.Q4438*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.Q4556*|FAT3_ENST00000533797.1_Nonsense_Mutation_p.Q891*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4588					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCATCAGACTCAAGTGTAGAC	0.507000										TCGA Ovarian(4;0.039)			11	16					0	0	0.010729	0	0
PSMC2	5701	broad.mit.edu	37	7	103007958	103007958	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr7:103007958A>G	ENST00000435765.1	+	11	1354	c.943A>G	c.(943-945)Att>Gtt	p.I315V	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.I178V|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.I315V	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	315					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						TAGAGGCAATATTAAAGTGCT	0.443000													59	39					0	0	0.014410	0	0
PDE3A	5139	broad.mit.edu	37	12	20799470	20799470	+	Silent	SNP	T	T	C			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:20799470T>C	ENST00000359062.3	+	11	2338	c.2298T>C	c.(2296-2298)taT>taC	p.Y766Y	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	766	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTGTTTGGTATCTTACTACAC	0.413000													12	51					0	0	0.016723	0	0
LRPAP1	4043	broad.mit.edu	37	4	3520617	3520617	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:3520617C>T	ENST00000500728.2	-	4	719	c.573G>A	c.(571-573)gaG>gaA	p.E191E	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	191					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TGCTCAGGGTCTCCAGCAGGA	0.637000													3	9					0	0	0.004672	0	0
ANKRD36	375248	broad.mit.edu	37	2	97866192	97866192	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:97866192C>T	ENST00000420699.2	+	46	3031	c.2787C>T	c.(2785-2787)gcC>gcT	p.A929A	ANKRD36_ENST00000461153.2_Silent_p.A929A	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	929										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CCATTCAGGCCACAAGTGATG	0.333000													4	36					0	0	0.009096	0	0
NTM	50863	broad.mit.edu	37	11	132081943	132081943	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:132081943C>G	ENST00000374786.1	+	3	907	c.428C>G	c.(427-429)tCa>tGa	p.S143*	NTM_ENST00000474900.1_3'UTR|NTM_ENST00000427481.2_Nonsense_Mutation_p.S134*|NTM_ENST00000539799.1_Nonsense_Mutation_p.S143*|NTM_ENST00000425719.2_Nonsense_Mutation_p.S143*|NTM_ENST00000374784.1_Nonsense_Mutation_p.S143*|NTM_ENST00000374791.3_Nonsense_Mutation_p.S143*	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	143	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GAGATTTCTTCAGATATCTCC	0.393000													7	59					0	0	0.001984	0	0
COPS4	51138	broad.mit.edu	37	4	83989672	83989672	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:83989672G>A	ENST00000264389.2	+	9	1219	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	COPS4_ENST00000511653.1_Missense_Mutation_p.E362K|COPS4_ENST00000503682.1_Missense_Mutation_p.E394K|COPS4_ENST00000509093.1_Intron	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	362	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				AGTTCATTTTGAAAGTAAGAG	0.333000													5	44					0	0	0.001984	0	0
CXCL10	3627	broad.mit.edu	37	4	76943923	76943923	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:76943923T>G	ENST00000306602.1	-	2	174	c.109A>C	c.(109-111)Aat>Cat	p.N37H	ART3_ENST00000341029.5_Intron	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	chemokine (C-X-C motif) ligand 10	37					blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation	extracellular space	cAMP-dependent protein kinase regulator activity|chemokine activity			kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACAGGTTGATTACTAATGCTG	0.408000													4	81					0	0	0.014758	0	0
ZMYM4	9202	broad.mit.edu	37	1	35859302	35859302	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:35859302C>T	ENST00000314607.6	+	18	2953	c.2873C>T	c.(2872-2874)tCt>tTt	p.S958F	ZMYM4_ENST00000373297.2_Missense_Mutation_p.S869F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	958					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAGCCACCTCTTGCAAACCA	0.398000													11	88					0	0	0.013537	0	0
MS4A4A	51338	broad.mit.edu	37	11	60059779	60059779	+	Silent	SNP	A	A	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:60059779A>T	ENST00000355131.3	+	3	289	c.66A>T	c.(64-66)ggA>ggT	p.G22G	MS4A4A_ENST00000532114.1_Silent_p.G41G|MS4A4A_ENST00000337908.4_Silent_p.G41G|MS4A4A_ENST00000395016.3_Silent_p.G22G	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	41						integral to membrane	receptor activity	p.G41G(1)|p.G22G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CCCAGCTGGGAAACATGGCTG	0.488000													12	64					0	0	0.016723	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71277239	71277239	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:71277239C>G	ENST00000398531.1	+	1	631	c.606C>G	c.(604-606)atC>atG	p.I202M	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	202						keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						AGTGTAAGATCTGAGGCTCTG	0.542000													86	136					0	0	0.014410	0	0
FAM98A	25940	broad.mit.edu	37	2	33810258	33810258	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:33810258C>T	ENST00000238823.8	-	8	1282	c.1142G>A	c.(1141-1143)gGa>gAa	p.G381E	FAM98A_ENST00000441530.2_Missense_Mutation_p.G186E|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	382	Gly-rich.									NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					TGTCCAGCCTCCTTGATGCTT	0.577000													6	97					0	0	0.021553	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													7	61					0	0	0.004482	0	0
LAMP5	24141	broad.mit.edu	37	20	9496129	9496129	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr20:9496129G>A	ENST00000246070.2	+	2	586	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	LAMP5_ENST00000427562.2_Missense_Mutation_p.E32K	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	32						integral to membrane											GGCAGAACAAGAAGTGGAAAA	0.498000													8	44					0	0	0.008291	0	0
USP30	84749	broad.mit.edu	37	12	109522853	109522853	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:109522853C>T	ENST00000257548.5	+	12	1357	c.1264C>T	c.(1264-1266)Cct>Tct	p.P422S	USP30_ENST00000392784.2_Missense_Mutation_p.P391S	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	422					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						GATGCCCTTCCCTCTCCCAGT	0.502000													29	283					0	0	0.008361	0	0
KIF21A	55605	broad.mit.edu	37	12	39726145	39726145	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:39726145C>T	ENST00000395670.3	-	21	3341	c.2922G>A	c.(2920-2922)gaG>gaA	p.E974E	KIF21A_ENST00000361418.5_Silent_p.E974E|KIF21A_ENST00000541463.2_Silent_p.E938E|KIF21A_ENST00000544797.2_Silent_p.E961E|KIF21A_ENST00000361961.3_Silent_p.E961E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	974					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCTCTCCATTCTCCTTGACTA	0.373000													12	149					0	0	0.013537	0	0
ADRBK1	156	broad.mit.edu	37	11	67052618	67052618	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:67052618C>T	ENST00000308595.5	+	20	2154	c.1864C>T	c.(1864-1866)Ctc>Ttc	p.L622F	ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	622	PH.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GTGCCTGCTCCTCAAGATCCG	0.647000													21	303					0	0	0.012319	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202464747	202464747	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:202464747C>T	ENST00000406302.3	+	17	2538	c.2385C>T	c.(2383-2385)atC>atT	p.I795I	PPP1R12B_ENST00000391959.3_Silent_p.I21I|PPP1R12B_ENST00000336894.4_Silent_p.I795I|PPP1R12B_ENST00000367270.4_Silent_p.I21I|PPP1R12B_ENST00000290419.5_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	795					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GGCTGTCCATCCGAGAGAGGA	0.463000													7	48					0	0	0.001984	0	0
POLI	11201	broad.mit.edu	37	18	51820401	51820401	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr18:51820401C>T	ENST00000579534.1	+	10	1930	c.1787C>T	c.(1786-1788)tCt>tTt	p.S596F	POLI_ENST00000217800.5_Missense_Mutation_p.S470F|POLI_ENST00000406285.3_Missense_Mutation_p.S517F|POLI_ENST00000579434.1_Missense_Mutation_p.S493F	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	596	Ser-rich.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		CAGGTATCCTCTGTATCTCCT	0.338000								DNA polymerases (catalytic subunits)					20	56					0	0	0.016522	0	0
TNS4	84951	broad.mit.edu	37	17	38638646	38638646	+	Silent	SNP	G	G	T	rs147623676	byFrequency	TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:38638646G>T	ENST00000254051.6	-	7	1682	c.1524C>A	c.(1522-1524)atC>atA	p.I508I		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	508	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)			GGAAGTGTCGGATGAGGTCAT	0.572000													11	59					7.03913e-09	7.63566e-09	0.013537	1	0
NRXN1	9378	broad.mit.edu	37	2	50280535	50280535	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:50280535C>T	ENST00000404971.1	-	22	5461	c.4122G>A	c.(4120-4122)atG>atA	p.M1374I	NRXN1_ENST00000402717.3_Missense_Mutation_p.M1326I|NRXN1_ENST00000401710.1_Missense_Mutation_p.M322I|NRXN1_ENST00000405472.3_Missense_Mutation_p.M1326I|NRXN1_ENST00000342183.5_Missense_Mutation_p.M269I|NRXN1_ENST00000401669.2_Missense_Mutation_p.M1334I|NRXN1_ENST00000406859.3_Missense_Mutation_p.M1304I|NRXN1_ENST00000406316.2_Missense_Mutation_p.M1304I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1304				Missing (in Ref. 2; BAA25504).	adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTCAGTTGTCATAGAGGAAG	0.483000													11	102					0	0	0.010729	0	0
IGLV5-52	28779	broad.mit.edu	37	22	22673302	22673302	+	RNA	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr22:22673302C>T	ENST00000390289.2	+	0	100				LL22NC03-80A10.6_ENST00000426066.1_RNA																							CATTCTGCATCTTCTGGAGCA	0.527000													27	198					0	0	0.010818	0	0
RABEPK	10244	broad.mit.edu	37	9	127969967	127969967	+	Missense_Mutation	SNP	A	A	G	rs17855990		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr9:127969967A>G	ENST00000373544.1	+	4	344	c.178A>G	c.(178-180)Aga>Gga	p.R60G	RABEPK_ENST00000394125.4_Missense_Mutation_p.R60G|RABEPK_ENST00000394124.4_Missense_Mutation_p.R60G|RABEPK_ENST00000373538.3_Missense_Mutation_p.R60G|RABEPK_ENST00000259460.8_Missense_Mutation_p.R60G			Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	60			R -> G (in dbSNP:rs17855990).		receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						AAATCCAAACAGAAGCTTCTC	0.532000													8	141					0	0	0.004482	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840605	1840605	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:1840605C>T	ENST00000331238.5	-	2	529	c.511G>A	c.(511-513)Gac>Aac	p.D171N		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	171					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TTGACCAGGTCCACGAAGATG	0.627000													7	44					0	0	0.001984	0	0
EPB41L3	23136	broad.mit.edu	37	18	5397375	5397375	+	Silent	SNP	C	C	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr18:5397375C>A	ENST00000341928.2	-	18	2863	c.2523G>T	c.(2521-2523)gtG>gtT	p.V841V	EPB41L3_ENST00000544123.1_Silent_p.V672V|EPB41L3_ENST00000540638.2_Silent_p.V619V|EPB41L3_ENST00000400111.3_Silent_p.V619V|EPB41L3_ENST00000342933.3_Silent_p.V841V|EPB41L3_ENST00000542146.1_Silent_p.V146V|EPB41L3_ENST00000427684.2_Silent_p.V138V|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	841	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCAGGTGGTGCACGGTGGGTT	0.567000													14	53					2.31682e-05	2.43076e-05	0.024245	1	0
SCN9A	6335	broad.mit.edu	37	2	167133711	167133711	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:167133711G>T	ENST00000375387.4	-	16	2999	c.2659C>A	c.(2659-2661)Cag>Aag	p.Q887K	SCN9A_ENST00000409435.1_Missense_Mutation_p.Q886K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.Q875K|SCN9A_ENST00000303354.6_Missense_Mutation_p.Q887K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	886						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCAAAGAGCTGCATGCCGACC	0.468000													11	115					5.01169e-05	5.22959e-05	0.004990	1	0
XIST	7503	broad.mit.edu	37	X	73071033	73071033	+	RNA	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chrX:73071033G>A	ENST00000429829.1	-	0	1555					NR_001564.2																						GCACTAGGCGGCAAAACCCGC	0.522000													4	169					0	0	0.009096	0	0
PTCHD1	139411	broad.mit.edu	37	X	23353314	23353314	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chrX:23353314G>A	ENST00000379361.4	+	1	1182	c.322G>A	c.(322-324)Gac>Aac	p.D108N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	108					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CAACATGCTGGACCAGCATCA	0.677000													7	26					0	0	0.001984	0	0
AWAT1	158833	broad.mit.edu	37	X	69455943	69455943	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chrX:69455943G>A	ENST00000374521.3	+	3	250	c.209G>A	c.(208-210)aGg>aAg	p.R70K	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	70					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						GCCTGGGTAAGGAACTGGTGT	0.517000													11	91					0	0	0.010729	0	0
FNDC3A	22862	broad.mit.edu	37	13	49742771	49742771	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr13:49742771A>G	ENST00000492622.2	+	10	1365	c.1060A>G	c.(1060-1062)Ata>Gta	p.I354V	FNDC3A_ENST00000398316.3_Missense_Mutation_p.I298V|FNDC3A_ENST00000541916.1_Missense_Mutation_p.I354V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	354	Fibronectin type-III 1.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ATATAATTCTATAAAGGGAAC	0.368000													24	56					0	0	0.018920	0	0
TRMT13	54482	broad.mit.edu	37	1	100606565	100606565	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:100606565C>T	ENST00000370141.2	+	7	665	c.659C>T	c.(658-660)aCa>aTa	p.T220I		NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)																		AAGGTGACCACAAGATTCAAG	0.348000													6	41					0	0	0.001984	0	0
EPHA5	2044	broad.mit.edu	37	4	66197747	66197747	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:66197747C>T	ENST00000273854.3	-	17	3552	c.2952G>A	c.(2950-2952)gaG>gaA	p.E984E	EPHA5_ENST00000354839.4_Silent_p.E962E|EPHA5_ENST00000432638.2_Silent_p.E821E|EPHA5_ENST00000511294.1_Silent_p.E985E	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	984	SAM.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCATGAAAATCTCTGTATACC	0.433000										TSP Lung(17;0.13)			11	43					0	0	0.013537	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782989	115782989	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr5:115782989G>A	ENST00000343348.6	-	19	3200	c.2413C>T	c.(2413-2415)Ctg>Ttg	p.L805L	SEMA6A_ENST00000257414.8_Silent_p.L822L|SEMA6A_ENST00000510263.1_Silent_p.L805L|SEMA6A_ENST00000513137.1_Silent_p.L232L|SEMA6A_ENST00000503865.1_Silent_p.L184L|SEMA6A_ENST00000282394.6_Silent_p.L282L	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	805	Pro-rich.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GAGGCCCGCAGGGGCAGGTCC	0.652000													7	50					0	0	0.001984	0	0
SOX17	64321	broad.mit.edu	37	8	55372417	55372417	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr8:55372417C>T	ENST00000297316.4	+	2	1311	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	369	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			ATCTGCACTTCGTGTGCAAGC	0.662000													4	22					0	0	0.014758	0	0
RYR3	6263	broad.mit.edu	37	15	33916108	33916108	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr15:33916108A>G	ENST00000389232.4	+	20	2528	c.2458A>G	c.(2458-2460)Aga>Gga	p.R820G	RYR3_ENST00000415757.3_Missense_Mutation_p.R820G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	820					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGAGAAGATGAGATTGGAGCC	0.488000													24	95					0	0	0.021523	0	0
SETD1A	9739	broad.mit.edu	37	16	30977192	30977192	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr16:30977192G>A	ENST00000262519.8	+	8	2676	c.1990G>A	c.(1990-1992)Gag>Aag	p.E664K		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GAACTCCTTGGAGCTCATGGA	0.622000													10	89					0	0	0.010729	0	0
TADA2A	6871	broad.mit.edu	37	17	35825582	35825582	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:35825582A>G	ENST00000394395.2	+	11	933	c.760A>G	c.(760-762)Atg>Gtg	p.M254V	TADA2A_ENST00000225396.6_Missense_Mutation_p.M254V|TADA2A_ENST00000417170.1_Missense_Mutation_p.M254V|TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000586023.1_Missense_Mutation_p.M254V	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	254					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						GTATGAAACAATGAGGCGATT	0.433000													37	103					0	0	0.025465	0	0
YARS2	51067	broad.mit.edu	37	12	32900172	32900172	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:32900172C>T	ENST00000324868.8	-	5	1427	c.1400G>A	c.(1399-1401)aGa>aAa	p.R467K	YARS2_ENST00000551673.1_5'UTR	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	467					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GTAGAAATTTCTTTTTCCTAT	0.338000													19	30					0	0	0.007413	0	0
PRSS1	5644	broad.mit.edu	37	7	142459743	142459743	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr7:142459743G>A	ENST00000486171.1	+	4	378	c.361G>A	c.(361-363)Gac>Aac	p.D121N	PRSS1_ENST00000311737.7_Missense_Mutation_p.D107N			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	107	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TCTGAACAATGACATCATGTT	0.552000													17	86					0	0	0.004990	0	0
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368000													3	28					0	0	0.004672	0	0
SLC30A9	10463	broad.mit.edu	37	4	42069198	42069198	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:42069198C>T	ENST00000264451.6	+	14	1421	c.1241C>T	c.(1240-1242)aCt>aTt	p.T414I		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	414					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGGGCCTTACTTCTATAACA	0.333000													5	146					0	0	0.014758	0	0
LANCL2	55915	broad.mit.edu	37	7	55466318	55466318	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr7:55466318C>T	ENST00000254770.2	+	3	1103	c.525C>T	c.(523-525)gtC>gtT	p.V175V	LANCL2_ENST00000486376.1_3'UTR	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	175					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			AGGAATGTGTCACAAAGTGAG	0.463000													8	40					0	0	0.003080	0	0
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	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 sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642000		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)			24	41					0	0	0.024334	0	0
CREBBP	1387	broad.mit.edu	37	16	3786770	3786770	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr16:3786770C>T	ENST00000262367.5	-	27	5250	c.4441G>A	c.(4441-4443)Gat>Aat	p.D1481N	CREBBP_ENST00000382070.3_Missense_Mutation_p.D1443N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1481	Cys/His-rich.|Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAGATGTAATCATCTCCTTCA	0.527000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						28	133					0	0	0.007291	0	0
LRCH4	4034	broad.mit.edu	37	7	100179491	100179491	+	Translation_Start_Site	SNP	G	G	A	rs149222783	byFrequency	TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr7:100179491G>A	ENST00000497245.1	-	0	424				LRCH4_ENST00000310300.6_Silent_p.N169N			O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4						nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATTGGAGCTCGTTGCTGCTCA	0.612000													5	81					0	0	0.014758	0	0
ZNF705B	100132396	broad.mit.edu	37	8	7808253	7808253	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr8:7808253C>T	ENST00000443676.1	+	5	418	c.302C>T	c.(301-303)tCc>tTc	p.S101F	ZNF705B_ENST00000400120.3_Missense_Mutation_p.S101F			P0CI00	Z705L_HUMAN	zinc finger protein 705B	101					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(2)|lung(2)	4						AAAGACACATCCACCAGTATG	0.338000													34	96					0	0	0.021022	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435661	104435661	+	RNA	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr5:104435661C>T	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							GTGGCAGTAGCATTTGAAAAG	0.478000													5	27					0	0	0.021553	0	0
PSMA8	143471	broad.mit.edu	37	18	23772346	23772346	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr18:23772346G>A	ENST00000308268.6	+	7	831	c.742G>A	c.(742-744)Gag>Aag	p.E248K	PSMA8_ENST00000343848.6_Missense_Mutation_p.E204K|PSMA8_ENST00000415576.2_Missense_Mutation_p.E242K	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	248					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GGAAGAAGCAGAGAAGAAAAA	0.303000													9	47					0	0	0.004482	0	0
ACD	65057	broad.mit.edu	37	16	67692699	67692699	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr16:67692699G>A	ENST00000219251.8	-	8	1246	c.915C>T	c.(913-915)gtC>gtT	p.V305V	ACD_ENST00000393919.4_Silent_p.V308V	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	308	Interaction with POT1.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TTGAGCTGGGGACAGTGTACA	0.552000													9	51					0	0	0.006214	0	0
MIA3	375056	broad.mit.edu	37	1	222801790	222801790	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:222801790G>A	ENST00000344922.5	+	4	1253	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.E410K|MIA3_ENST00000344507.1_Missense_Mutation_p.E410K	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	410					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)		TAGTTCAGAGGAAGAAAAAGA	0.408000													15	61					0	0	0.024245	0	0
LYST	1130	broad.mit.edu	37	1	235904814	235904814	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:235904814G>A	ENST00000389794.3	-	31	8440	c.8266C>T	c.(8266-8268)Cac>Tac	p.H2756Y	LYST_ENST00000389793.2_Missense_Mutation_p.H2756Y			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2756					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.H2756N(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGTGCAGCGTGGGCTGGCGAC	0.438000													11	77					0	0	0.008291	0	0
HCAR1	27198	broad.mit.edu	37	12	123214555	123214555	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:123214555G>A	ENST00000432564.1	-	1	574	c.332C>T	c.(331-333)gCg>gTg	p.A111V	HCAR1_ENST00000436083.2_Missense_Mutation_p.A111V|HCAR1_ENST00000356987.2_Missense_Mutation_p.A111V	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	111					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						ATACCTGTCCGCAGCCACCAC	0.622000													6	41					0	0	0.021553	0	0
NTN3	4917	broad.mit.edu	37	16	2522266	2522266	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr16:2522266C>T	ENST00000293973.1	+	1	767	c.564C>T	c.(562-564)agC>agT	p.S188S		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	188	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CTGATGGCAGCGGCCTTCTGG	0.697000													5	16					0	0	0.021553	0	0
TTC40	54777	broad.mit.edu	37	10	134628403	134628403	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr10:134628403T>C	ENST00000368586.5	-	51	7233	c.7133A>G	c.(7132-7134)aAg>aGg	p.K2378R	TTC40_ENST00000263170.5_Missense_Mutation_p.K539R	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	539										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TCTTCCCTCCTTTTTCACGCC	0.567000													3	253					0	0	0.021553	0	0
FER1L6	654463	broad.mit.edu	37	8	125113503	125113503	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr8:125113503G>A	ENST00000522917.1	+	38	5255	c.5049G>A	c.(5047-5049)aaG>aaA	p.K1683K	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.K1683K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1683	C2 6.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTTTAGAGAAGATGGAGTGTA	0.483000													5	64					0	0	0.014758	0	0
LRRC66	339977	broad.mit.edu	37	4	52861043	52861043	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:52861043G>A	ENST00000343457.3	-	4	2151	c.2145C>T	c.(2143-2145)tcC>tcT	p.S715S		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	715						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTGAACTTATGGAGCTCAGAG	0.527000													5	86					0	0	0.014758	0	0
HRNR	388697	broad.mit.edu	37	1	152187050	152187050	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:152187050G>A	ENST00000368801.2	-	3	7130	c.7055C>T	c.(7054-7056)tCt>tTt	p.S2352F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2352					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)			AGTGTAACCAGAGGACTGCCA	0.567000													19	301					0	0	0.006320	0	0
HYDIN	54768	broad.mit.edu	37	16	71054178	71054178	+	Missense_Mutation	SNP	T	T	C	rs117718337		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr16:71054178T>C	ENST00000393567.2	-	22	3379	c.3229A>G	c.(3229-3231)Ata>Gta	p.I1077V	HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1077			I -> V (in dbSNP:rs6416709).					p.I1077V(3)|p.I1029V(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTTCTTTATGGCCAAGGGC	0.418000													3	37					0	0	0.004672	0	0
MECR	51102	broad.mit.edu	37	1	29557401	29557401	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:29557401G>A	ENST00000263702.6	-	1	43	c.18C>T	c.(16-18)acC>acT	p.T6T	MECR_ENST00000373791.3_5'UTR|MECR_ENST00000489248.1_5'UTR			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	6					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CCCGCCACAGGGTACTGCAGA	0.721000													3	27					0	0	0.014758	0	0
TTC7A	57217	broad.mit.edu	37	2	47300993	47300993	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:47300993C>T	ENST00000319190.5	+	20	2876	c.2508C>T	c.(2506-2508)ttC>ttT	p.F836F	TTC7A_ENST00000409245.1_Silent_p.F802F|TTC7A_ENST00000394850.2_Silent_p.F860F|TTC7A_ENST00000263737.6_Silent_p.F482F|CALM2_ENST00000422269.1_Intron	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	836							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TTGACTGCTTCCTCACCGCCC	0.677000													10	24					0	0	0.008291	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100550734	100550734	+	RNA	SNP	C	C	T	rs34923288		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:100550734C>T	ENST00000397112.4	-	0	2087					NR_036632.1															large_intestine(1)|lung(3)	4						GGGGCGGGGGCCCCTGGAGTG	0.642000													4	30					0	0	0.014758	0	0
POLQ	10721	broad.mit.edu	37	3	121206399	121206399	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr3:121206399G>A	ENST00000264233.5	-	16	5507	c.5379C>T	c.(5377-5379)ttC>ttT	p.F1793F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1793					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGTTGTCTTTGAACCCATTTC	0.378000								DNA polymerases (catalytic subunits)					9	107					0	0	0.006214	0	0
EMR1	2015	broad.mit.edu	37	19	6919744	6919744	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:6919744C>T	ENST00000312053.4	+	13	1643	c.1606C>T	c.(1606-1608)Ctg>Ttg	p.L536L	EMR1_ENST00000450315.3_Silent_p.L359L|EMR1_ENST00000381407.5_Silent_p.L395L|EMR1_ENST00000381404.4_Silent_p.L484L|EMR1_ENST00000250572.8_Silent_p.L536L	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	536	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CATCTACACTCTGGAGAACAT	0.458000													7	61					0	0	0.004482	0	0
SORCS3	22986	broad.mit.edu	37	10	106899161	106899161	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr10:106899161A>C	ENST00000369701.3	+	8	1446	c.1219A>C	c.(1219-1221)Act>Cct	p.T407P		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	407						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTAGGTAACAACTAGTGGAAG	0.458000													10	91					0	0	0.008291	0	0
MTFP1	51537	broad.mit.edu	37	22	30824464	30824464	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr22:30824464C>T	ENST00000355143.4	+	3	315	c.211C>T	c.(211-213)Cct>Tct	p.P71S	MTFP1_ENST00000266263.5_Silent_p.L148L|RP4-539M6.19_ENST00000439838.1_Silent_p.L320L|MTFP1_ENST00000407550.3_Silent_p.L125L	NM_001003704.2	NP_001003704.1			mitochondrial fission process 1											endometrium(1)|large_intestine(1)|lung(2)	4						TGGATTTCCTCCTGGACTCCA	0.587000													10	35					0	0	0.008291	0	0
ZNF536	9745	broad.mit.edu	37	19	31039805	31039805	+	Silent	SNP	C	C	T	rs147863190		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:31039805C>T	ENST00000355537.3	+	4	3426	c.3279C>T	c.(3277-3279)agC>agT	p.S1093S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1093					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.S1093S(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGCAGAAGAGCGGTGCATGGA	0.537000													11	39					0	0	0.013537	0	0
VPS41	27072	broad.mit.edu	37	7	38796567	38796567	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr7:38796567C>T	ENST00000310301.4	-	19	1620	c.1566G>A	c.(1564-1566)aaG>aaA	p.K522K	VPS41_ENST00000395969.2_Silent_p.K497K	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	522					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	p.K522N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TGCCATAGTTCTTGTCATAGG	0.299000													7	48					0	0	0.004482	0	0
TNNT1	7138	broad.mit.edu	37	19	55652591	55652591	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:55652591T>G	ENST00000588981.1	-	8	476	c.272A>C	c.(271-273)aAg>aCg	p.K91T	TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000291901.8_Missense_Mutation_p.K91T|TNNT1_ENST00000536926.1_Missense_Mutation_p.K80T|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000587758.1_Missense_Mutation_p.K80T|TNNT1_ENST00000356783.5_Missense_Mutation_p.K80T|TNNT1_ENST00000587465.2_Missense_Mutation_p.K21T|TNNT1_ENST00000585321.2_Missense_Mutation_p.K21T	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	91					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CTCTTCCTCCTTCTTCCGCTG	0.592000											OREG0025677	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	50					0	0	0.004482	0	0
AKNAD1	254268	broad.mit.edu	37	1	109366241	109366241	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:109366241C>T	ENST00000370001.3	-	12	2274	c.2006G>A	c.(2005-2007)tGt>tAt	p.C669Y	AKNAD1_ENST00000369994.1_Missense_Mutation_p.C639Y|AKNAD1_ENST00000357393.4_Missense_Mutation_p.C376Y|AKNAD1_ENST00000369995.3_Missense_Mutation_p.C669Y	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	669										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						CTTAGTGCCACAGTCCTGACA	0.488000													10	55					0	0	0.013537	0	0
C7orf25	79020	broad.mit.edu	37	7	42950074	42950074	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr7:42950074G>A	ENST00000350427.4	-	2	701	c.426C>T	c.(424-426)atC>atT	p.I142I	C7orf25_ENST00000447342.1_Silent_p.I142I|C7orf25_ENST00000431882.2_Silent_p.I200I|C7orf25_ENST00000438029.1_Silent_p.I142I|PSMA2_ENST00000442788.1_3'UTR			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	142										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CCTGCTCAATGATGCTTTTGT	0.507000													7	101					0	0	0.001984	0	0
DBI	1622	broad.mit.edu	37	2	120125495	120125495	+	Translation_Start_Site	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:120125495G>A	ENST00000393103.2	+	0	243				DBI_ENST00000311521.4_Intron|DBI_ENST00000535757.1_Intron|DBI_ENST00000460901.1_Intron|DBI_ENST00000542275.1_Intron|DBI_ENST00000409094.1_Intron|DBI_ENST00000535617.1_Intron|DBI_ENST00000355857.3_Intron	NM_001079863.1	NP_001073332.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)						transport		benzodiazepine receptor binding|fatty-acyl-CoA binding			kidney(1)|lung(4)|skin(1)	6						ttccagacctgatgcctgcgt	0.572000													12	107					0	0	0.020292	0	0
OR2J2	26707	broad.mit.edu	37	6	29141562	29141562	+	Silent	SNP	A	A	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:29141562A>T	ENST00000377167.2	+	1	252	c.150A>T	c.(148-150)tcA>tcT	p.S50S		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCATCCTGTCATACGTGGACT	0.453000													6	288					0	0	0.001984	0	0
GOLGB1	2804	broad.mit.edu	37	3	121410866	121410866	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr3:121410866T>C	ENST00000393667.3	-	14	7455	c.7345A>G	c.(7345-7347)Aca>Gca	p.T2449A	GOLGB1_ENST00000340645.5_Missense_Mutation_p.T2444A	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2444					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTTTTCAGTGTTTCCATAAGC	0.393000													21	128					0	0	0.012319	0	0
USH2A	7399	broad.mit.edu	37	1	216017746	216017746	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:216017746C>T	ENST00000366943.2	-	46	9534	c.9148G>A	c.(9148-9150)Gtc>Atc	p.V3050I	USH2A_ENST00000307340.3_Missense_Mutation_p.V3050I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3050	Fibronectin type-III 17.				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)		TACTCAGTGACAACACCATTT	0.433000										HNSCC(13;0.011)			7	61					0	0	0.006214	0	0
WBP11	51729	broad.mit.edu	37	12	14949890	14949890	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:14949890C>G	ENST00000261167.2	-	5	471	c.238G>C	c.(238-240)Gac>Cac	p.D80H	WBP11_ENST00000537574.1_Missense_Mutation_p.D80H	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	80					mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TTACGCTTGTCTTTCAGTACT	0.343000													27	37					0	0	0.010818	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													4	53					0	0	0.009096	0	0
DUOX1	53905	broad.mit.edu	37	15	45445673	45445673	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr15:45445673G>A	ENST00000321429.4	+	27	3927	c.3520G>A	c.(3520-3522)Gat>Aat	p.D1174N	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.D820N|DUOX1_ENST00000389037.3_Missense_Mutation_p.D1174N|DUOX1_ENST00000559221.1_3'UTR	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1174	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTTCCATGATGATGGGTGAGT	0.507000													18	106					0	0	0.006122	0	0
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393													11	1146	---	---	---	---					
ZFR	51663	broad.mit.edu	37	5	32407005	32407025	+	In_Frame_Del	DEL	GGCAGCTGTTGCAGCAGCAGC	GGCAGCTGTTGCAGCAGCAGC	-			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr5:32407005_32407025delGGCAGCTGTTGCAGCAGCAGC	ENST00000265069.8	-	6	988_1008	c.886_906delGCTGCTGCTGCAACAGCTGCC	c.(886-906)del	p.AAAATAA296del		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	296	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TCCCTGTCCAGGCAgctgttgcagcagcagcagcagctgct	0.466													8	51	---	---	---	---					
C8orf59	401466	broad.mit.edu	37	8	86129664	86129664	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr8:86129664delT	ENST00000417663.2	-	2	136	c.65delA	c.(64-66)acfs	p.N22fs	C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1	Q8N0T1	CH059_HUMAN	chromosome 8 open reading frame 59	22																	AGCCTTAAAGTTTTTTTGGCT	0.343													7	207	---	---	---	---					
MAMDC4	158056	broad.mit.edu	37	9	139753544	139753545	+	Frame_Shift_Ins	INS	-	-	G	rs142983311	by1000genomes	TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr9:139753544_139753545insG	ENST00000445819.1	+	26	3331_3332	c.3281_3282insG	c.(3280-3282)cgafs	p.R1094fs	MAMDC4_ENST00000317446.2_Frame_Shift_Ins_p.R1015fs|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	1094	MAM 6.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CACCAGTGGCTGGAGGCCCAGG	0.668													2	4	---	---	---	---					
TAF10	6881	broad.mit.edu	37	11	6633269	6633269	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:6633269delC	ENST00000299424.4	-	1	629	c.152delG	c.(151-153)gafs	p.G51fs	TAF10_ENST00000531760.1_Intron	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	51					histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGCCCCAGGTCCCCCCGCTGT	0.816													2	4	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													4	6	---	---	---	---					
EMC4	51234	broad.mit.edu	37	15	34522006	34522007	+	In_Frame_Ins	INS	-	-	CGG			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr15:34522006_34522007insCGG	ENST00000249209.4	+	4	510_511	c.408_409insCGG	c.(406-411)cgtggt>cgCGGtggt	p.137_138insG	EMC4_ENST00000559421.1_3'UTR|EMC4_ENST00000267750.4_3'UTR					ER membrane protein complex subunit 4																		GAAAGCAGCGCCTGGTCCCTAT	0.396													7	63	---	---	---	---					
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	-	GGC	rs71338073		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr18:77623691_77623692insGGC	ENST00000316249.3	+	1	24_25	c.24_25insGGC	c.(22-27)ccgcgg>ccGGCgcgg	p.8_9PR>PAR		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	8					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772													4	5	---	---	---	---					
MOCS3	27304	broad.mit.edu	37	20	49575960	49575962	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr20:49575960_49575962delTGC	ENST00000244051.1	+	1	598_600	c.581_583delTGC	c.(580-585)gtg>g	p.VL194del		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	194					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						GACGCATGTGTGCTGGCGGGTCG	0.596													15	55	---	---	---	---					
