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
ZFAND4	93550	broad.mit.edu	37	10	46122443	46122443	+	Silent	SNP	A	A	G			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr10:46122443A>G	ENST00000374366.3	-	8	1071	c.606T>C	c.(604-606)ggT>ggC	p.G202G	ZFAND4_ENST00000344646.5_Silent_p.G276G|ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR			Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	276							zinc ion binding										AACAAGATTGACCAATGTTGG	0.478000													5	106					0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119336993	119336993	+	Silent	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr3:119336993G>A	ENST00000273371.4	+	7	954	c.882G>A	c.(880-882)ctG>ctA	p.L294L	PLA1A_ENST00000488919.1_Silent_p.L121L|PLA1A_ENST00000495992.1_Silent_p.L278L|PLA1A_ENST00000494440.1_Silent_p.L278L	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	294					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GACGCTGTCTGGATTGCTTTA	0.522000													5	361					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377994	138377994	+	Silent	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr9:138377994G>A	ENST00000356818.2	+	4	2187	c.1638G>A	c.(1636-1638)gcG>gcA	p.A546A	PPP1R26_ENST00000401470.3_Silent_p.A546A|PPP1R26_ENST00000605286.1_Silent_p.A546A|PPP1R26_ENST00000605660.1_Silent_p.A546A|PPP1R26_ENST00000604351.1_Silent_p.A546A|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	546						nucleolus	protein binding										CCCTAAAGGCGCAGTCAGGGA	0.627000													5	191					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71655779	71655779	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr2:71655779A>C	ENST00000409544.1	+	25	6278	c.5648A>C	c.(5647-5649)gAa>gCa	p.E1883A	ZNF638_ENST00000409407.1_Missense_Mutation_p.E823A|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.E1883A	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1883					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CAGATGAGTGAAGGTAAAGCA	0.398000													40	52					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C	rs142536398	by1000genomes	TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:43587730A>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GTATTGATTCATTTTATTCAT	0.343000													4	60					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19751149	19751149	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:19751149T>G	ENST00000203556.4	-	6	522	c.385A>C	c.(385-387)Acc>Ccc	p.T129P	GMIP_ENST00000445806.2_Missense_Mutation_p.T129P|GMIP_ENST00000587238.1_Missense_Mutation_p.T129P	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	129					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ATCTTCATGGTGCTCTTAGCA	0.607000													4	88					0	0	1	0	0
CSF2RA	0	broad.mit.edu	37	X	1413280	1413280	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chrX:1413280C>T	ENST00000381524.3	+	8	892	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R236W|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R236W|CSF2RA_ENST00000361536.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R236W|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000501036.2_Missense_Mutation_p.R103W			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	236						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTGCCTCGTACGGTGGAAACA	0.592000													61	95					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104140466	104140466	+	Silent	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr12:104140466C>T	ENST00000388887.2	+	58	6432	c.6228C>T	c.(6226-6228)gaC>gaT	p.D2076D	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2076	EGF-like 15.				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						ATGAAGGTGACGGAATCACAT	0.512000													16	191					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846107	47846107	+	Nonsense_Mutation	SNP	G	G	A	rs144105703		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr6:47846107G>A	ENST00000339488.4	-	3	2506	c.2473C>T	c.(2473-2475)Cga>Tga	p.R825*		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	825						integral to membrane	hedgehog receptor activity										CTCTCCTTTCGCTTGGCACGT	0.428000													4	153					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7572217	7572217	+	Silent	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr6:7572217C>T	ENST00000379802.3	+	15	2387	c.2046C>T	c.(2044-2046)tgC>tgT	p.C682C	DSP_ENST00000418664.2_Silent_p.C682C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	682	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TAGAGCACTGCGAGGGCAGGA	0.443000													15	23					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18874815	18874815	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:18874815C>T	ENST00000388995.6	-	6	2552	c.2329G>A	c.(2329-2331)Gag>Aag	p.E777K	SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.E777K|FAM83G_ENST00000585154.2_Missense_Mutation_p.E777K|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	777										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGATGCTCCTCGGTGGCCCTG	0.637000													9	168					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47412311	47412311	+	Splice_Site	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr21:47412311G>A	ENST00000361866.3	+	18	1385	c.1272_splice	c.e18+1	p.R424_splice		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	424	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CCCGGGGAGCGGGTGAGTGGG	0.657000													13	14					0	0	1	0	0
CDKN2C	1031	broad.mit.edu	37	1	51436140	51436140	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr1:51436140C>T	ENST00000262662.1	+	3	2134	c.100C>T	c.(100-102)Caa>Taa	p.Q34*	CDKN2C_ENST00000371761.3_Nonsense_Mutation_p.Q34*|CDKN2C_ENST00000396148.1_Nonsense_Mutation_p.Q34*			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	34					cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CGTCAATGCACAAAATGGATT	0.483000			D		"""glioma, MM"""								6	54					0	0	1	0	0
OOEP	441161	broad.mit.edu	37	6	74104567	74104567	+	Translation_Start_Site	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr6:74104567G>A	ENST00000370363.1	-	0	249				DDX43_ENST00000370336.4_5'UTR			A6NGQ2	OOEP_HUMAN	oocyte expressed protein							cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						CTCTTACGACGTCACGGTCAG	0.657000													3	38					0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39922020	39922020	+	Splice_Site	SNP	C	C	G			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr4:39922020C>G	ENST00000303538.8	-	7	1194		c.e7-1		PDS5A_ENST00000503396.1_Splice_Site	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)						cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TATTTAAGTTCTGAAAAATAA	0.274000													11	20					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52397073	52397073	+	Silent	SNP	C	C	G			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr3:52397073C>G	ENST00000420323.2	+	32	5418	c.5157C>G	c.(5155-5157)ctC>ctG	p.L1719L		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1719	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGATCTCCCTCTATTCCTTTG	0.537000													57	97					0	0	1	0	0
PCDHGC5	0	broad.mit.edu	37	5	140869683	140869683	+	Silent	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:140869683C>T	ENST00000252087.1	+	1	876	c.876C>T	c.(874-876)ctC>ctT	p.L292L	PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		292	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGAACCTCTTTGGCCTAG	0.537000													53	101					0	0	1	0	0
EVI2B	2124	broad.mit.edu	37	17	29631826	29631826	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:29631826A>G	ENST00000330927.4	-	2	956	c.802T>C	c.(802-804)Tca>Cca	p.S268P	EVI2B_ENST00000577894.1_Missense_Mutation_p.S268P|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.S283P	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	268						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		GAAATGATTGATGTACGTTTT	0.363000													6	131					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10464926	10464926	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr8:10464926C>T	ENST00000382483.3	-	4	6905	c.6682G>A	c.(6682-6684)Gta>Ata	p.V2228I		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2228					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGGTCTCTACGCCTTCTGGC	0.607000													8	244					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48682920	48682920	+	Silent	SNP	T	T	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr7:48682920T>C	ENST00000435803.1	+	60	14898	c.14874T>C	c.(14872-14874)tgT>tgC	p.C4958C	ABCA13_ENST00000544596.1_Silent_p.C688C	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4958					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTGGCTCTGTAAGGAAGCAA	0.318000													20	162					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85461769	85461769	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr15:85461769T>G	ENST00000394573.1	+	10	1012	c.810T>G	c.(808-810)atT>atG	p.I270M	SLC28A1_ENST00000537216.1_Missense_Mutation_p.I270M|SLC28A1_ENST00000537624.1_Missense_Mutation_p.I270M|SLC28A1_ENST00000286749.3_Missense_Mutation_p.I270M|SLC28A1_ENST00000538177.1_Missense_Mutation_p.I270M|SLC28A1_ENST00000537703.1_Missense_Mutation_p.I192M	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	270					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGCCCATCATTGTCTTTTTCA	0.602000													68	76					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								24	26					0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628437	71628437	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr9:71628437C>T	ENST00000377276.2	-	1	602	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	191	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCCCTTCACGCGCTTGGCGAA	0.627000													11	16					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324832	31324832	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr18:31324832G>A	ENST00000269197.5	+	12	5020	c.5020G>A	c.(5020-5022)Gaa>Aaa	p.E1674K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGAACTTCACGAAGCAGACAA	0.478000													50	41					0	0	1	0	0
TMEM217	221468	broad.mit.edu	37	6	37186212	37186212	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr6:37186212C>T	ENST00000336655.2	-	2	634	c.595G>A	c.(595-597)Gag>Aag	p.E199K	TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.E199K	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	199						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						ctctgcctctcaaagtactgg	0.473000													5	52					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	18001748	18001748	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:18001748C>T	ENST00000222248.3	+	14	2052	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	569					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	p.R569W(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGACCTCGCACGGCAGACAGC	0.602000													10	198					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71655742	71655742	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr2:71655742G>C	ENST00000409544.1	+	25	6241	c.5611G>C	c.(5611-5613)Gaa>Caa	p.E1871Q	ZNF638_ENST00000409407.1_Missense_Mutation_p.E811Q|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.E1871Q	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1871					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGTTGTGACAGAACCAGCAAA	0.398000													58	83					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183201823	183201823	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr1:183201823T>C	ENST00000264144.4	+	14	2116	c.2051T>C	c.(2050-2052)gTg>gCg	p.V684A	LAMC2_ENST00000493293.1_Missense_Mutation_p.V684A	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	684	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TTGGCCAAGGTGAGGAGCCAA	0.527000													6	67					0	0	1	0	0
IRF3	3661	broad.mit.edu	37	19	50165556	50165556	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:50165556G>A	ENST00000597198.1	-	6	1012	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	IRF3_ENST00000377139.3_Missense_Mutation_p.R211W|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000600911.1_Missense_Mutation_p.R211W|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000593922.1_Missense_Mutation_p.R65W|IRF3_ENST00000309877.7_Missense_Mutation_p.R211W|IRF3_ENST00000599144.1_Missense_Mutation_p.R65W|IRF3_ENST00000598808.1_Missense_Mutation_p.R65W|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000601291.1_Missense_Mutation_p.R211W			Q14653	IRF3_HUMAN	interferon regulatory factor 3	211	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGGCGGCCCCGGTAGAAGGCT	0.667000													5	50					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022396	120022396	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:120022396A>T	ENST00000379551.2	+	3	1195	c.838A>T	c.(838-840)Acc>Tcc	p.T280S	PRR16_ENST00000505123.1_Missense_Mutation_p.T233S|PRR16_ENST00000407149.2_Missense_Mutation_p.T303S|PRR16_ENST00000446965.1_Missense_Mutation_p.T233S	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	303	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AACCACTACAACCGTGTGATG	0.388000													4	36					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142573252	142573252	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr7:142573252T>C	ENST00000359396.3	-	8	1336	c.1091A>G	c.(1090-1092)gAc>gGc	p.D364G		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	364					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GAGGGTGTTGTCCCGGGGGCT	0.562000													43	44					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148801034	148801034	+	Silent	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr7:148801034G>A	ENST00000378061.2	-	4	2061	c.1929C>T	c.(1927-1929)tgC>tgT	p.C643C		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	643					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AACTTTTGCCGCACATCACAC	0.532000													4	155					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100484956	100484956	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr7:100484956A>C	ENST00000388793.4	+	16	2208	c.1988A>C	c.(1987-1989)aAg>aCg	p.K663T	SRRT_ENST00000347433.4_Missense_Mutation_p.K664T|SRRT_ENST00000457580.2_Missense_Mutation_p.K664T|SRRT_ENST00000432932.1_Missense_Mutation_p.K663T	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	664					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GAGTGGCAGAAGACTTTTGAG	0.587000													48	82					0	0	1	0	0
CLRN2	645104	broad.mit.edu	37	4	17528505	17528505	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr4:17528505C>T	ENST00000511148.2	+	3	601	c.499C>T	c.(499-501)Cga>Tga	p.R167*		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	167						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						CCTGACGGAACGAATCGCCAA	0.552000													4	39					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27244027	27244027	+	Silent	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr3:27244027C>T	ENST00000429845.2	-	25	2474	c.2112G>A	c.(2110-2112)gaG>gaA	p.E704E	NEK10_ENST00000383771.4_Silent_p.E16E|NEK10_ENST00000357467.2_Silent_p.E101E|NEK10_ENST00000295720.6_Silent_p.E16E|NEK10_ENST00000383770.3_Silent_p.E16E			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	704	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCCCATACGGCTCACTCTTCA	0.473000													11	23					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	56					0	0	1	0	0
ARRDC5	645432	broad.mit.edu	37	19	4891574	4891574	+	Silent	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:4891574G>A	ENST00000381781.2	-	3	512	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	171					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CAGCCTCCACGAACAAGGGGT	0.552000													13	11					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578505	7578505	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:7578505G>A	ENST00000420246.2	-	5	557	c.425C>T	c.(424-426)cCt>cTt	p.P142L	TP53_ENST00000359597.4_Missense_Mutation_p.P142L|TP53_ENST00000455263.2_Missense_Mutation_p.P142L|TP53_ENST00000413465.2_Missense_Mutation_p.P142L|TP53_ENST00000445888.2_Missense_Mutation_p.P142L|TP53_ENST00000269305.4_Missense_Mutation_p.P142L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	142	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P142L(8)|p.0?(8)|p.A138_P142delAKTCP(4)|p.P142H(3)|p.P142F(2)|p.L137_W146del10(1)|p.A6_P10delAKTCP(1)|p.N131fs*27(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C141fs*5(1)|p.P142del(1)|p.P142_Q144delPVQ(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)		CAGCTGCACAGGGCAGGTCTT	0.587000		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)			4	51					0	0	1	0	0
CATSPER3	347732	broad.mit.edu	37	5	134345082	134345082	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:134345082C>T	ENST00000282611.6	+	6	924	c.838C>T	c.(838-840)Cga>Tga	p.R280*		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	280					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAAGTTTGAGCGAGAGCTGAT	0.542000													5	93					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55339921	55339921	+	Silent	SNP	C	C	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr11:55339921C>A	ENST00000314634.3	+	1	318	c.318C>A	c.(316-318)ggC>ggA	p.G106G		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATGTCTTTGGCTGCCTGGAGA	0.488000													8	238					1.33987e-11	1.41295e-11	1	1	0
KIAA0895L	653319	broad.mit.edu	37	16	67214474	67214474	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr16:67214474G>T	ENST00000290881.7	-	3	966	c.40C>A	c.(40-42)Ccc>Acc	p.P14T	KIAA0895L_ENST00000563902.1_Missense_Mutation_p.P14T|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.P14T|KIAA0895L_ENST00000563831.2_Intron			Q68EN5	K895L_HUMAN	KIAA0895-like	14	Pro-rich.							p.S16fs*13(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GGGCTGGGGGGTGCCTGATCA	0.647000													19	21					4.35082e-09	4.5062e-09	1	1	0
ACVR1B	91	broad.mit.edu	37	12	52380606	52380606	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr12:52380606A>G	ENST00000257963.4	+	7	1218	c.1141A>G	c.(1141-1143)Atg>Gtg	p.M381V	ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000541224.1_Missense_Mutation_p.M422V|ACVR1B_ENST00000426655.2_Missense_Mutation_p.M381V|ACVR1B_ENST00000415850.2_Missense_Mutation_p.M381V|ACVR1B_ENST00000542485.1_Missense_Mutation_p.M329V	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	381	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TTGCAGATACATGGCCCCTGA	0.398000													23	74					0	0	1	0	0
PCDHA2	0	broad.mit.edu	37	5	140176747	140176747	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:140176747C>T	ENST00000526136.1	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHA2_ENST00000378132.1_Missense_Mutation_p.A733V|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A733V	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCGCGCGCCAGGAAAG	0.682000													5	84					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42791794	42791794	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:42791794A>T	ENST00000572681.2	+	6	3475	c.3407A>T	c.(3406-3408)aAc>aTc	p.N1136I	CIC_ENST00000160740.3_Missense_Mutation_p.N227I|CIC_ENST00000575354.2_Missense_Mutation_p.N227I			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	227	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AACCAGGACAACCGGACCGTC	0.622000			"""Mis, F, S"""		oligodendroglioma								22	5					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47500793	47500793	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr18:47500793C>A	ENST00000285039.7	-	10	1548	c.1249G>T	c.(1249-1251)Gtg>Ttg	p.V417L		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	417	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ATGTGCTCCACAATCCAGCCG	0.587000													4	68					0.000602214	0.00061278	1	1	0
FUBP1	8880	broad.mit.edu	37	1	78428499	78428499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr1:78428499G>A	ENST00000370767.1	-	14	1387	c.1300C>T	c.(1300-1302)Caa>Taa	p.Q434*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.Q455*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.Q434*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	434	KH 4.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCTATCTGTTGTGGAGTGCCA	0.368000			"""F, N"""		oligodendroglioma								5	38					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17081798	17081798	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:17081798G>A	ENST00000443236.1	-	18	2288	c.2257C>T	c.(2257-2259)Cgg>Tgg	p.R753W	CPAMD8_ENST00000388925.4_Missense_Mutation_p.P495L	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	706						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						CCGTCCTGCCGGTGGTTCAGG	0.632000													4	65					0	0	1	0	0
C17orf85	55421	broad.mit.edu	37	17	3717702	3717702	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:3717702T>C	ENST00000158149.3	-	13	1596	c.701A>G	c.(700-702)gAg>gGg	p.E234G	C17orf85_ENST00000389005.4_Missense_Mutation_p.E514G			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	514							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		AGAAGAGGGCTCTCTCCGAAC	0.473000													4	98					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169634881	169634881	+	Silent	SNP	G	G	A	rs139787473		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr6:169634881G>A	ENST00000366787.3	-	11	1848	c.1599C>T	c.(1597-1599)tgC>tgT	p.C533C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	533	TSP type-1 3.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.C533*(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CATCCCCCACGCAGGCCTTCC	0.662000													6	66					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40604415	40604415	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr21:40604415T>C	ENST00000342449.3	-	24	2854	c.2776A>G	c.(2776-2778)Agg>Ggg	p.R926G	BRWD1_ENST00000333229.2_Missense_Mutation_p.R926G|BRWD1_ENST00000380800.3_Missense_Mutation_p.R926G	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	926					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)				GGAGTCATCCTCCGCAAATTC	0.398000													7	70					0	0	1	0	0
SLC25A46	91137	broad.mit.edu	37	5	110074990	110074990	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:110074990delG	ENST00000355943.3	+	1	296	c.170delG	c.(169-171)tgfs	p.W57fs	SLC25A46_ENST00000447245.2_Frame_Shift_Del_p.W57fs|SLC25A46_ENST00000513807.1_Intron|SLC25A46_ENST00000509442.2_Intron	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	57					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		AACCTGCACTGGGGCGAGAAG	0.692													2	4	---	---	---	---					
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151	by1000genomes	TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)ccgcgg>ccGGCgcgg	p.389_390PR>PAR		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													7	38	---	---	---	---					
WDR81	124997	broad.mit.edu	37	17	1640948	1640949	+	Frame_Shift_Ins	INS	-	-	G			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:1640948_1640949insG	ENST00000409644.1	+	10	5795_5796	c.5795_5796insG	c.(5794-5796)tgafs	p.*1932fs	WDR81_ENST00000545662.1_Frame_Shift_Ins_p.*563fs|WDR81_ENST00000446363.1_Frame_Shift_Ins_p.*571fs|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Frame_Shift_Ins_p.*881fs|WDR81_ENST00000437219.2_Frame_Shift_Ins_p.*729fs|WDR81_ENST00000419248.1_Frame_Shift_Ins_p.*705fs	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	705								p.S881S(2)|p.S1932S(2)|p.S729S(2)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGCTGGGCTCAGACAACGGGG	0.653													17	30	---	---	---	---					
CAPN12	147968	broad.mit.edu	37	19	39224801	39224801	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:39224801delC	ENST00000328867.4	-	17	2167	c.1859delG	c.(1858-1860)gcfs	p.G620fs	CAPN12_ENST00000601953.1_Frame_Shift_Del_p.G471fs	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	620	Domain IV.|EF-hand.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CAGGAGGTAGCCCCAGAGCTG	0.572													23	8	---	---	---	---					
CIC	23152	broad.mit.edu	37	19	42795609	42795609	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:42795609delC	ENST00000572681.2	+	11	5484	c.5416delC	c.(5416-5418)ccfs	p.P1807fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.P898fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.P898fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTCCGCCCCACCCCCCAAAGG	0.607			"""Mis, F, S"""		oligodendroglioma								8	71	---	---	---	---