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
SF3B1	23451	broad.mit.edu	37	2	198285265	198285265	+	Splice_Site	SNP	T	T	C			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr2:198285265T>C	ENST00000335508.5	-	4	393	c.300_splice	c.e4-1	p.Y101_splice	SF3B1_ENST00000487698.1_Splice_Site_p.Y101_splice|SF3B1_ENST00000409915.4_Splice_Site_p.Y101_splice|SF3B1_ENST00000414963.2_Splice_Site_p.Y101_splice	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	101					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAATGGATCATACTGAAAAGA	0.358000			Mis		myelodysplastic syndrome								37	23					0	0	0.004878	0	0
SOS2	6655	broad.mit.edu	37	14	50597456	50597456	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr14:50597456T>C	ENST00000216373.5	-	20	3374	c.3100A>G	c.(3100-3102)Aaa>Gaa	p.K1034E	SOS2_ENST00000543680.1_Missense_Mutation_p.K1001E	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1034					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CCAGGAGATTTTAAGGAAAAA	0.383000													6	56					0	0	0.001168	0	0
HERC2	8924	broad.mit.edu	37	15	28467346	28467346	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr15:28467346T>C	ENST00000261609.7	-	36	5588	c.5480A>G	c.(5479-5481)aAc>aGc	p.N1827S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1827					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCCTCAACGTTGTCACAACT	0.458000													9	29					0	0	0.004007	0	0
GTF3A	2971	broad.mit.edu	37	13	28004707	28004707	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr13:28004707A>T	ENST00000381140.4	+	4	631	c.437A>T	c.(436-438)cAt>cTt	p.H146L	GTF3A_ENST00000470606.1_3'UTR	NM_002097.2	NP_002088.2	Q92664	TF3A_HUMAN	general transcription factor IIIA	146					regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)		TTTAAGAAACATCAGCAGCTG	0.383000													9	9					0	0	0.004482	0	0
CWH43	80157	broad.mit.edu	37	4	49030675	49030675	+	Silent	SNP	C	C	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr4:49030675C>A	ENST00000226432.4	+	10	1479	c.1296C>A	c.(1294-1296)atC>atA	p.I432I	CWH43_ENST00000513409.1_Silent_p.I405I	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	432					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTGCTGCCATCTGGCCTTTCA	0.448000													9	32					1.76689e-08	4.19343e-08	0.006214	1	0
PARP15	165631	broad.mit.edu	37	3	122354785	122354785	+	Silent	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr3:122354785C>T	ENST00000483793.1	+	9	1330	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	PARP15_ENST00000493645.1_Silent_p.F322F|PARP15_ENST00000310366.4_Silent_p.F391F|PARP15_ENST00000464300.2_Silent_p.F625F|PARP15_ENST00000465304.1_3'UTR			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	603	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		CTGGAGTCTTCACAAAGGGAC	0.488000													16	40					0	0	0.004007	0	0
SLC28A3	64078	broad.mit.edu	37	9	86914576	86914576	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr9:86914576C>A	ENST00000376238.4	-	6	638	c.589G>T	c.(589-591)Ggt>Tgt	p.G197C	SLC28A3_ENST00000537648.1_Missense_Mutation_p.G128C	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	197					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TGCTGTTGACCCAATTTGGCA	0.463000													12	56					0.000219431	0.000464986	0.002450	1	0
KIAA1429	25962	broad.mit.edu	37	8	95531399	95531399	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr8:95531399C>T	ENST00000297591.5	-	9	2402	c.2327G>A	c.(2326-2328)aGc>aAc	p.S776N	KIAA1429_ENST00000437199.1_Missense_Mutation_p.S776N|KIAA1429_ENST00000421249.2_Missense_Mutation_p.S776N	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	776					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTGAAAATGGCTGAACAGTTC	0.423000													8	55					0	0	0.003080	0	0
AJUBA	84962	broad.mit.edu	37	14	23447604	23447604	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr14:23447604G>A	ENST00000262713.2	-	2	1432	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*	AJUBA_ENST00000361265.4_Nonsense_Mutation_p.Q353*|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	353	LIM zinc-binding 1.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										TCCAGGGCCTGGCAGGCATTG	0.542000													124	49					0	0	0.003610	0	0
PKD1	5310	broad.mit.edu	37	16	2160250	2160250	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr16:2160250C>G	ENST00000262304.4	-	15	5126	c.4918G>C	c.(4918-4920)Ggt>Cgt	p.G1640R	PKD1_ENST00000423118.1_Missense_Mutation_p.G1640R	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1640	PKD 12.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TAGCGGCCACCGCCCACCACC	0.617000													19	13					0	0	0.006122	0	0
ANKH	56172	broad.mit.edu	37	5	14758681	14758681	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr5:14758681T>A	ENST00000284268.6	-	3	670	c.340A>T	c.(340-342)Atc>Ttc	p.I114F		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	114					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGTTTATTGATAATGTAGTAT	0.418000													12	47					0	0	0.001368	0	0
DNAJC13	23317	broad.mit.edu	37	3	132219737	132219737	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr3:132219737C>T	ENST00000260818.6	+	39	4764	c.4516C>T	c.(4516-4518)Cgg>Tgg	p.R1506W		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1506							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GGATCTCTGTCGGGTACTATA	0.418000													35	79					0	0	0.003271	0	0
GUCY2F	2986	broad.mit.edu	37	X	108718934	108718934	+	Silent	SNP	A	A	G			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chrX:108718934A>G	ENST00000218006.2	-	2	523	c.232T>C	c.(232-234)Tta>Cta	p.L78L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	78					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCAATGGCTAATCGCGCAGCA	0.527000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	17					0	0	0.004878	0	0
SAFB2	9667	broad.mit.edu	37	19	5604923	5604923	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr19:5604923T>C	ENST00000252542.4	-	10	1585	c.1321A>G	c.(1321-1323)Aac>Gac	p.N441D	SAFB2_ENST00000591310.1_5'UTR	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	441	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CTGCGGGCGTTCGTTACCACT	0.517000													7	47					0	0	0.001984	0	0
SEC16A	9919	broad.mit.edu	37	9	139354513	139354513	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr9:139354513C>T	ENST00000313050.7	-	12	5127	c.5054G>A	c.(5053-5055)cGg>cAg	p.R1685Q	SEC16A_ENST00000371706.3_Missense_Mutation_p.R1507Q|SEC16A_ENST00000290037.6_Missense_Mutation_p.R1507Q|SEC16A_ENST00000431893.2_Missense_Mutation_p.R1507Q	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1507					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGCAGGCATCCGTCCGGACAT	0.592000													11	8					0	0	0.000978	0	0
TM9SF1	10548	broad.mit.edu	37	14	24679887	24679887	+	Silent	SNP	A	A	G			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr14:24679887A>G	ENST00000530611.1	-	4	480	c.447T>C	c.(445-447)ccT>ccC	p.P149P	CHMP4A_ENST00000542700.2_5'UTR|TM9SF1_ENST00000556387.1_Silent_p.P149P|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000347519.6_Silent_p.P192P			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		CAAAGCCCATAGGCCGAGAAA	0.507000													3	152					0	0	0.004672	0	0
MYO18B	84700	broad.mit.edu	37	22	26164180	26164180	+	Silent	SNP	T	T	C			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr22:26164180T>C	ENST00000335473.7	+	4	547	c.297T>C	c.(295-297)ccT>ccC	p.P99P	MYO18B_ENST00000407587.2_Silent_p.P99P|MYO18B_ENST00000536101.1_Silent_p.P99P	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	99	Ser-rich.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAAGCTCTCCTGGGAGCTCAG	0.582000													16	136					0	0	0.004007	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179320402	179320402	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr5:179320402C>T	ENST00000356834.3	-	5	680	c.643G>A	c.(643-645)Gag>Aag	p.E215K	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E215K	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	215						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGATGCTCTCGGGGAAGAGC	0.587000													17	14					0	0	0.004990	0	0
LILRB1	10859	broad.mit.edu	37	19	55144748	55144748	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr19:55144748C>G	ENST00000396331.1	+	8	1597	c.1240C>G	c.(1240-1242)Ccc>Gcc	p.P414A	LILRB1_ENST00000427581.2_Missense_Mutation_p.P450A|LILRB1_ENST00000396317.1_Missense_Mutation_p.P414A|LILRB1_ENST00000396315.1_Missense_Mutation_p.P414A|LILRB1_ENST00000396327.3_Missense_Mutation_p.P414A|LILRB1_ENST00000418536.2_Missense_Mutation_p.P414A|LILRB1_ENST00000434867.2_Missense_Mutation_p.P414A|LILRB1_ENST00000448689.1_Missense_Mutation_p.P414A|LILRB1_ENST00000396321.2_Missense_Mutation_p.P414A|LILRB1_ENST00000396332.4_Missense_Mutation_p.P414A|LILRB1_ENST00000462628.1_Intron|LILRB1_ENST00000324602.7_Missense_Mutation_p.P414A	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	414					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCCAGTGACCCCCTGGAGCT	0.622000										HNSCC(37;0.09)			3	78					0	0	0.000248	0	0
URGCP	55665	broad.mit.edu	37	7	43917489	43917489	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr7:43917489T>C	ENST00000336086.6	-	4	3680	c.1444A>G	c.(1444-1446)Agg>Ggg	p.R482G	URGCP_ENST00000453200.1_Missense_Mutation_p.R525G|URGCP_ENST00000223341.7_Missense_Mutation_p.R482G|URGCP_ENST00000447717.3_Missense_Mutation_p.R482G|URGCP_ENST00000443736.1_Missense_Mutation_p.R482G|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Missense_Mutation_p.R516G			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	525					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCTCAGCCCTGTGCTTCTCA	0.647000													3	89					0	0	0.000248	0	0
CHGB	1114	broad.mit.edu	37	20	5903296	5903296	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr20:5903296A>G	ENST00000378961.4	+	4	710	c.506A>G	c.(505-507)gAg>gGg	p.E169G		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	169	Poly-Glu.					extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGGAGGAGGAGGGAGAGAAC	0.512000													3	47					0	0	0.000248	0	0
PGBD2	267002	broad.mit.edu	37	1	249212056	249212056	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr1:249212056G>T	ENST00000355360.4	+	3	790	c.520G>T	c.(520-522)Gct>Tct	p.A174S	PGBD2_ENST00000539153.1_Missense_Mutation_p.A422S|PGBD2_ENST00000329291.5_Missense_Mutation_p.A425S	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	425										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TTGCTCCAATGCTGTGGGCAT	0.517000													7	38					5.18039e-06	1.16723e-05	0.003080	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43627757	43627757	+	Silent	SNP	A	A	G			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr9:43627757A>G	ENST00000332857.6	-	4	958	c.930T>C	c.(928-930)tgT>tgC	p.C310C		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CTTCCATCTGACAGGTCTCTG	0.532000													5	409					0	0	0.001168	0	0
S1PR5	53637	broad.mit.edu	37	19	10624909	10624909	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr19:10624909A>T	ENST00000439028.3	-	2	904	c.779T>A	c.(778-780)tTt>tAt	p.F260Y	S1PR5_ENST00000333430.4_Missense_Mutation_p.F260Y	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	260						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						ACATGCCACAAAGGCCAGGAG	0.716000													7	4					0	0	0.001984	0	0
AKAP9	10142	broad.mit.edu	37	7	91659267	91659267	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr7:91659267G>T	ENST00000359028.2	+	16	4468	c.4243G>T	c.(4243-4245)Gga>Tga	p.G1415*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.G1415*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.G1403*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1415					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATGTACCCTGGAAGTTGTGT	0.269000			T	BRAF	papillary thyroid								47	47					1.39843e-22	3.66059e-22	0.003610	1	0
MTSS1	9788	broad.mit.edu	37	8	125597387	125597387	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr8:125597387C>A	ENST00000518547.1	-	6	874	c.401G>T	c.(400-402)cGc>cTc	p.R134L	MTSS1_ENST00000378017.3_Missense_Mutation_p.R134L|MTSS1_ENST00000325064.5_Missense_Mutation_p.R134L|MTSS1_ENST00000354184.4_5'UTR	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	134	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	p.R134H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TATCTCTTGGCGGGCTTTCTT	0.363000													49	115					9.87224e-16	2.54675e-15	0.003610	1	0
FRS3	10817	broad.mit.edu	37	6	41738404	41738404	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr6:41738404C>A	ENST00000373018.3	-	7	1683	c.1432G>T	c.(1432-1434)Ggc>Tgc	p.G478C	FRS3_ENST00000259748.2_Missense_Mutation_p.G478C	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	478					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGCGGTGCCATCGTCTCGG	0.627000													17	64					3.41278e-10	8.32158e-10	0.004990	1	0
PIK3R3	8503	broad.mit.edu	37	1	46511672	46511672	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr1:46511672C>T	ENST00000262741.5	-	9	1794	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	PIK3R3_ENST00000372006.1_Missense_Mutation_p.E369K|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000354242.4_Missense_Mutation_p.E310K|PIK3R3_ENST00000540385.1_Missense_Mutation_p.E415K|PIK3R3_ENST00000423209.1_Missense_Mutation_p.E310K|PIK3R3_ENST00000340332.6_Missense_Mutation_p.E274K|PIK3R3_ENST00000420542.1_Missense_Mutation_p.E369K	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	369	SH2 2.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					AGCAAGTCCTCTGCTTGTACT	0.398000													20	80					0	0	0.001523	0	0
ADH1C	126	broad.mit.edu	37	4	100268199	100268199	+	RNA	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr4:100268199C>T	ENST00000515683.1	-	0	574				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CAAACACTTTCCACGATGCCG	0.522000													56	189					0	0	0.003610	0	0
PXDNL	137902	broad.mit.edu	37	8	52320774	52320774	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr8:52320774G>A	ENST00000356297.4	-	17	3510	c.3410C>T	c.(3409-3411)tCg>tTg	p.S1137L	PXDNL_ENST00000543296.1_Missense_Mutation_p.S1137L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1137					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTGGCAGCCGAATCCACGGC	0.522000													10	125					0	0	0.000978	0	0
ACTC1	70	broad.mit.edu	37	15	35082732	35082732	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr15:35082732A>G	ENST00000290378.4	-	7	1670	c.1015T>C	c.(1015-1017)Tac>Cac	p.Y339H	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	339					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CAGACAGAGTATTTACGCTCA	0.478000													21	69					0	0	0.002299	0	0
ASPM	259266	broad.mit.edu	37	1	197091638	197091638	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr1:197091638C>A	ENST00000367409.4	-	14	3734	c.3478G>T	c.(3478-3480)Gct>Tct	p.A1160S	ASPM_ENST00000294732.7_Missense_Mutation_p.A1160S|ASPM_ENST00000367408.1_Missense_Mutation_p.A410S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1160	CH 2.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGACATATAGCGTCAAATGGC	0.413000													5	12					1.23904e-05	2.68962e-05	0.000602	1	0
MYCBP2	23077	broad.mit.edu	37	13	77662989	77662989	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr13:77662989G>A	ENST00000407578.2	-	61	10969	c.10703C>T	c.(10702-10704)gCt>gTt	p.A3568V	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.A3530V|MYCBP2_ENST00000544440.2_Missense_Mutation_p.A3530V	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AACTCGACAAGCAGATTTCCT	0.353000													17	20					0	0	0.007413	0	0
TAOK2	9344	broad.mit.edu	37	16	30002124	30002124	+	Missense_Mutation	SNP	A	A	G	rs140227077		TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr16:30002124A>G	ENST00000279394.3	+	18	2868	c.2465A>G	c.(2464-2466)cAg>cGg	p.Q822R		NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN	TAO kinase 2	701	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GATGAGACCCAGGAGGCAGAG	0.612000													18	34					0	0	0.001882	0	0
GSS	2937	broad.mit.edu	37	20	33519179	33519179	+	Silent	SNP	G	G	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr20:33519179G>A	ENST00000216951.2	-	11	1169	c.1071C>T	c.(1069-1071)gcC>gcT	p.A357A	GSS_ENST00000451957.2_Silent_p.A246A|GSS_ENST00000541098.1_Silent_p.A229A	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	357					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	ACCGGCTAGGGGCAGCAAGGG	0.562000													9	33					0	0	0.006214	0	0
BSPRY	54836	broad.mit.edu	37	9	116131934	116131934	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr9:116131934C>T	ENST00000374183.4	+	6	760	c.721C>T	c.(721-723)Ccc>Tcc	p.P241S	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	241	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GACAGTCAGCCCCTTCCTGCA	0.577000													14	84					0	0	0.001855	0	0
C3AR1	719	broad.mit.edu	37	12	8212707	8212707	+	Silent	SNP	G	G	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr12:8212707G>A	ENST00000307637.4	-	2	278	c.75C>T	c.(73-75)ctC>ctT	p.L25L		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	25					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TGACCATGGAGAGAATTACTG	0.488000													30	68					0	0	0.006320	0	0
ARHGAP4	393	broad.mit.edu	37	X	153186904	153186904	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chrX:153186904T>A	ENST00000370028.3	-	3	406	c.349A>T	c.(349-351)Agc>Tgc	p.S117C	ARHGAP4_ENST00000393721.1_Missense_Mutation_p.S117C|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.S117C|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.S94C|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.S117C	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	117					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGGCCGCGCTCTCCCGGCTC	0.692000													7	7					0	0	0.003080	0	0
COL5A1	1289	broad.mit.edu	37	9	137676879	137676879	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr9:137676879A>C	ENST00000371817.3	+	30	2943	c.2529A>C	c.(2527-2529)gaA>gaC	p.E843D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	843	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ATGGCCCTGAAGGCCCAAAGG	0.622000													34	29					0	0	0.006999	0	0
ZNF574	64763	broad.mit.edu	37	19	42584699	42584699	+	Silent	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr19:42584699C>T	ENST00000600245.1	+	2	2596	c.1941C>T	c.(1939-1941)tcC>tcT	p.S647S	ZNF574_ENST00000222339.7_Silent_p.S737S|ZNF574_ENST00000359044.4_Silent_p.S647S			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	647					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CCTTCCCCTCCTCACTGCGGC	0.697000													16	64					0	0	0.003163	0	0
C7orf62	219557	broad.mit.edu	37	7	88423535	88423535	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr7:88423535A>G	ENST00000297203.2	-	2	907	c.722T>C	c.(721-723)cTg>cCg	p.L241P	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	241										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						CTCAGAATCCAGAGTGATGTG	0.403000													15	23					0	0	0.002450	0	0
EML5	161436	broad.mit.edu	37	14	89091394	89091394	+	Silent	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr14:89091394C>T	ENST00000554922.1	-	36	5066	c.4818G>A	c.(4816-4818)gcG>gcA	p.A1606A	EML5_ENST00000553320.1_5'UTR|EML5_ENST00000352093.5_Silent_p.A1560A|EML5_ENST00000380664.5_Silent_p.A1598A	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1598						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGTGAGCTCTCGCCACGATTC	0.502000													6	67					0	0	0.004482	0	0
PRRT1	80863	broad.mit.edu	37	6	32119654	32119654	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr6:32119654C>T	ENST00000375150.2	-	3	215	c.31G>A	c.(31-33)Gag>Aag	p.E11K	PRRT1_ENST00000375152.2_Missense_Mutation_p.E11K|PRRT1_ENST00000211413.5_5'UTR			Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	94					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						TGGGGGTCCTCGGCCGGTGCT	0.677000													15	29					0	0	0.006122	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309894	22309894	+	RNA	SNP	T	T	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr14:22309894T>A	ENST00000390433.1	+	0	278																											AGCCAGTATATTTCCCTGCTC	0.493000													180	69					0	0	0.003610	0	0
CUX2	23316	broad.mit.edu	37	12	111758147	111758147	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr12:111758147G>T	ENST00000261726.6	+	17	2488	c.2334G>T	c.(2332-2334)gaG>gaT	p.E778D		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	778						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCAAGTCCGAGATCGGCGACG	0.721000													18	39					5.3912e-06	1.19954e-05	0.006122	1	0
RFX3	5991	broad.mit.edu	37	9	3263051	3263051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr9:3263051G>A	ENST00000382004.3	-	14	1800	c.1489C>T	c.(1489-1491)Cga>Tga	p.R497*	RFX3_ENST00000358730.2_Nonsense_Mutation_p.R497*|RFX3_ENST00000302303.1_Nonsense_Mutation_p.R497*	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	497					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	p.R497*(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GTGTATCTTCGCAGAGTCTGG	0.483000													23	98					0	0	0.002780	0	0
UBR5	51366	broad.mit.edu	37	8	103287969	103287969	+	Silent	SNP	T	T	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr8:103287969T>A	ENST00000520539.1	-	46	7203	c.6597A>T	c.(6595-6597)gtA>gtT	p.V2199V	UBR5_ENST00000220959.4_Silent_p.V2199V|UBR5_ENST00000521922.1_Silent_p.V2193V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2199					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTCCATGAATACCCTGCCGA	0.423000													12	32					0	0	0.001368	0	0
PKHD1	5314	broad.mit.edu	37	6	51524466	51524466	+	Silent	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr6:51524466C>T	ENST00000371117.3	-	61	10733	c.10458G>A	c.(10456-10458)ttG>ttA	p.L3486L		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3486					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTTTGTTCCCCAATAGAAAAA	0.453000													14	32					0	0	0.003163	0	0
FAM135A	57579	broad.mit.edu	37	6	71247998	71247998	+	Silent	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr6:71247998C>T	ENST00000418814.2	+	20	4736	c.4122C>T	c.(4120-4122)ctC>ctT	p.L1374L	FAM135A_ENST00000370479.3_Silent_p.L1161L|FAM135A_ENST00000361499.3_Silent_p.L1178L|FAM135A_ENST00000505868.1_Silent_p.L1374L|FAM135A_ENST00000505769.1_Silent_p.L954L|FAM135A_ENST00000457062.2_Silent_p.L1161L	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1374										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CTCTAGGTCTCTGGTTTATGC	0.308000													11	14					0	0	0.000978	0	0
PXDNL	137902	broad.mit.edu	37	8	52336259	52336259	+	Silent	SNP	G	G	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr8:52336259G>A	ENST00000356297.4	-	14	1771	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F	PXDNL_ENST00000543296.1_Silent_p.F557F	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	557	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATCCACATGGAATTTACCAC	0.433000													9	38					0	0	0.004482	0	0
TALDO1	6888	broad.mit.edu	37	11	755976	755976	+	Silent	SNP	G	G	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr11:755976G>A	ENST00000319006.3	+	2	348	c.195G>A	c.(193-195)gcG>gcA	p.A65A	TALDO1_ENST00000528097.1_Silent_p.A65A			P37837	TALDO_HUMAN	transaldolase 1	65					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		TGGAGGAGGCGATTGCCTATG	0.632000													4	27					0	0	0.000248	0	0
MXRA5	25878	broad.mit.edu	37	X	3241944	3241944	+	Silent	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chrX:3241944C>T	ENST00000217939.6	-	5	1936	c.1782G>A	c.(1780-1782)tcG>tcA	p.S594S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	594	Ig-like C2-type 2.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCAATGTCACCGACTCCCCTG	0.473000													5	14					0	0	0.000602	0	0
MED12L	116931	broad.mit.edu	37	3	151112629	151112629	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr3:151112629C>T	ENST00000474524.1	+	37	5727	c.5689C>T	c.(5689-5691)Caa>Taa	p.Q1897*	MED12L_ENST00000273432.4_Nonsense_Mutation_p.Q1757*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1897	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTTCTCAGGCAAGCCCAGAC	0.512000													16	101					0	0	0.004007	0	0
ATM	472	broad.mit.edu	37	11	108206667	108206667	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr11:108206667A>C	ENST00000278616.4	+	56	8632	c.8247A>C	c.(8245-8247)aaA>aaC	p.K2749N	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.K2749N	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2749	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GGAAGAGGAAATTAACTATCT	0.403000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			15	13					0	0	0.002450	0	0
DGKG	1608	broad.mit.edu	37	3	185975671	185975671	+	Silent	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr3:185975671C>T	ENST00000265022.3	-	17	2021	c.1482G>A	c.(1480-1482)ggG>ggA	p.G494G	DGKG_ENST00000382164.4_Silent_p.G455G|DGKG_ENST00000544847.1_Silent_p.G435G|DGKG_ENST00000344484.4_Silent_p.G469G	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	494	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AGCCAACTGTCCCATCTCCAC	0.448000													46	63					0	0	0.003610	0	0
AKAP7	9465	broad.mit.edu	37	6	131602681	131602681	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr6:131602681G>T	ENST00000431975.2	+	8	960	c.862G>T	c.(862-864)Gga>Tga	p.G288*	AKAP7_ENST00000263050.3_Nonsense_Mutation_p.G24*|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000342266.4_Nonsense_Mutation_p.G21*|AKAP7_ENST00000368123.4_Nonsense_Mutation_p.G266*|AKAP7_ENST00000474850.2_Nonsense_Mutation_p.G44*|AKAP7_ENST00000537868.1_Intron	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	44					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TGAAAAGAACGGAGGGGAGCC	0.507000													13	37					0.000219431	0.000464986	0.002450	1	0
FTH1P3	2498	broad.mit.edu	37	5	17354444	17354444	+	RNA	SNP	G	G	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr5:17354444G>A	ENST00000511821.1	+	0	303				FTH1P10_ENST00000401830.3_RNA																							CGCAGGAGGCGTAGAGCTCCA	0.532000													10	32					0	0	0.008291	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951990	119951990	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr4:119951990C>A	ENST00000307142.4	+	4	2256	c.2060C>A	c.(2059-2061)gCc>gAc	p.A687D	SYNPO2_ENST00000429713.2_Missense_Mutation_p.A687D|SYNPO2_ENST00000434046.2_Missense_Mutation_p.A687D|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	687						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTGCAGGAGGCCAAAAGGAGA	0.463000													11	34					1.58986e-06	3.62815e-06	0.008291	1	0
IRGQ	126298	broad.mit.edu	37	19	44097383	44097383	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr19:44097383C>T	ENST00000422989.1	-	3	822	c.667G>A	c.(667-669)Gca>Aca	p.A223T	IRGQ_ENST00000602269.1_Missense_Mutation_p.A223T	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	223							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TCTAGCCGTGCGCTGCCCAGG	0.682000													22	46					0	0	0.002780	0	0
TBX20	57057	broad.mit.edu	37	7	35288434	35288434	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr7:35288434G>C	ENST00000408931.3	-	3	926	c.400C>G	c.(400-402)Cgg>Ggg	p.R134G		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	134						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AAGGACACCCGGATGGTTGGA	0.532000													5	48					0	0	0.000602	0	0
FOXS1	2307	broad.mit.edu	37	20	30433105	30433105	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr20:30433105G>T	ENST00000375978.3	-	1	315	c.241C>A	c.(241-243)Cgc>Agc	p.R81S		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	81					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.R81C(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CGGTCATCGCGGGGCACCTTG	0.637000													17	62					6.49762e-13	1.65225e-12	0.006122	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140724693	140724693	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr5:140724693G>C	ENST00000253812.6	+	1	1093	c.1093G>C	c.(1093-1095)Gaa>Caa	p.E365Q	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTGGAAGAGAAATTGCTCT	0.443000													34	44					0	0	0.003755	0	0
KIF1A	547	broad.mit.edu	37	2	241689923	241689923	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr2:241689923A>G	ENST00000498729.2	-	28	3146	c.2900T>C	c.(2899-2901)cTg>cCg	p.L967P	KIF1A_ENST00000320389.7_Missense_Mutation_p.L866P	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	866					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACGGTGTACCAGGGGAACGGG	0.652000													3	52					0	0	0.000248	0	0
RBM48	84060	broad.mit.edu	37	7	92161858	92161858	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr7:92161858A>G	ENST00000481551.1	+	3	484	c.443A>G	c.(442-444)aAt>aGt	p.N148S	RBM48_ENST00000265732.5_Missense_Mutation_p.N148S			Q5RL73	CG064_HUMAN	RNA binding motif protein 48	148							nucleotide binding										ACTACTGAAAATAAAGGTATG	0.413000													22	18					0	0	0.001523	0	0
CABIN1	23523	broad.mit.edu	37	22	24439496	24439496	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr22:24439496C>T	ENST00000398319.2	+	6	861	c.476C>T	c.(475-477)cCc>cTc	p.P159L	CABIN1_ENST00000405822.2_Missense_Mutation_p.P159L|CABIN1_ENST00000263119.5_Missense_Mutation_p.P159L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	159					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GACCACTGGCCCTGTTTGGAT	0.512000													15	83					0	0	0.003163	0	0
PSME3	10197	broad.mit.edu	37	17	40986550	40986550	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr17:40986550A>G	ENST00000293362.3	+	3	255	c.94A>G	c.(94-96)Aat>Gat	p.N32D	PSME3_ENST00000592169.1_Intron|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000545225.1_5'UTR|PSME3_ENST00000441946.2_Missense_Mutation_p.N43D|PSME3_ENST00000590720.1_Missense_Mutation_p.N32D|PSME3_ENST00000592578.1_3'UTR	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	32					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|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|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CTTGGTGGCAAATTTTTTCCC	0.408000													33	86					0	0	0.003271	0	0
KLC1	3831	broad.mit.edu	37	14	104167058	104167058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr14:104167058C>T	ENST00000334553.6	+	16	2174	c.1915C>T	c.(1915-1917)Cgc>Tgc	p.R639C	KLC1_ENST00000554280.1_Missense_Mutation_p.607_607insT|KLC1_ENST00000555836.1_Missense_Mutation_p.R630C|KLC1_ENST00000452929.2_Missense_Mutation_p.616_616insT|XRCC3_ENST00000554974.1_Intron|XRCC3_ENST00000553264.1_Intron|XRCC3_ENST00000555055.1_Intron|XRCC3_ENST00000352127.7_Intron|XRCC3_ENST00000554913.1_Intron|XRCC3_ENST00000445556.1_Intron|KLC1_ENST00000348520.6_Missense_Mutation_p.R573C|KLC1_ENST00000557450.1_Missense_Mutation_p.R564C			Q07866	KLC1_HUMAN	kinesin light chain 1	0					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				AAGACGCCACCGCTAACGTGA	0.627000													11	70					0	0	0.001368	0	0
RTTN	25914	broad.mit.edu	37	18	67801778	67801778	+	Splice_Site	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr18:67801778C>T	ENST00000255674.6	-	23	3172		c.e23-1		RTTN_ENST00000437017.1_Splice_Site|RTTN_ENST00000454359.1_Splice_Site	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin								binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATTAACAGACCTATTTCATAA	0.333000													4	31					0	0	0.000248	0	0
ATP11C	286410	broad.mit.edu	37	X	138832233	138832233	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chrX:138832233C>A	ENST00000370557.1	-	24	3797	c.2770G>T	c.(2770-2772)Gaa>Taa	p.E924*	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Nonsense_Mutation_p.E930*|ATP11C_ENST00000370543.1_Nonsense_Mutation_p.E930*|ATP11C_ENST00000361648.2_Nonsense_Mutation_p.E930*|ATP11C_ENST00000359686.2_Nonsense_Mutation_p.E930*			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	930					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATGTGCTGTTCCAGTAGACTA	0.393000													5	59					1.23904e-05	2.68962e-05	0.000602	1	0
RNF145	153830	broad.mit.edu	37	5	158630622	158630622	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr5:158630622C>A	ENST00000424310.2	-	2	363	c.4G>T	c.(4-6)Gct>Tct	p.A2S	RNF145_ENST00000274542.2_Missense_Mutation_p.A30S|RNF145_ENST00000519865.1_Missense_Mutation_p.A2S|RNF145_ENST00000518802.1_Missense_Mutation_p.A32S|RNF145_ENST00000521606.2_Missense_Mutation_p.A19S|RNF145_ENST00000520638.1_Missense_Mutation_p.A16S	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	2						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTTTGCAGCCATGTTGttt	0.373000													15	30					6.31663e-08	1.47942e-07	0.003163	1	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs147293416	by1000genomes	TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732					NR_002164.1																						cagagtgatttcggatgaatt	0.507000													4	95					0	0	0.000602	0	0
ZNF876P	642280	broad.mit.edu	37	4	212712	212713	+	RNA	INS	-	-	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr4:212712_212713insA	ENST00000356347.3	+	0	172					NR_027481.1																						TCTGCTGGTGTAAAAAAAATCT	0.307													2	4	---	---	---	---					
TRIM51	84767	broad.mit.edu	37	11	55658941	55658943	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr11:55658941_55658943delGTG	ENST00000449290.2	+	7	1284_1286	c.1192_1194delGTG	c.(1192-1194)del	p.V399del	TRIM51_ENST00000244891.3_In_Frame_Del_p.V256del	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	399	B30.2/SPRY.					intracellular	zinc ion binding										CTCCCCACTTGTGGTGCAATATG	0.448													19	63	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49444269	49444276	+	Frame_Shift_Del	DEL	GGGAACCA	GGGAACCA	-			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr12:49444269_49444276delGGGAACCA	ENST00000301067.7	-	11	3094_3101	c.3095_3102delTGGTTCCC	c.(3094-3102)cfs	p.LVP1032fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGGAGTTTTGGGGAACCAGGGAATGCTG	0.611													9	45	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102292971	102292974	+	RNA	DEL	CTCA	CTCA	-	rs75843814		TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr15:102292971_102292974delCTCA	ENST00000561463.1	+	0	1017_1020																											GATGCTGCTTCTCAGAGCTGCTGT	0.583													3	6	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578241	7578241	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr17:7578241delA	ENST00000420246.2	-	6	740	c.608delT	c.(607-609)ggfs	p.V203fs	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.V203fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.V203fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	203	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|VE -> LV (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.0?(8)|p.V203E(6)|p.?(5)|p.N200fs*4(1)|p.V203A(1)|p.E204fs*5(1)|p.V203_E204>LV(1)|p.G199fs*42(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)		CAAATACTCCACACGCAAATT	0.552		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)			36	17	---	---	---	---