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
DOCK11	139818	broad.mit.edu	37	X	117700016	117700016	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:117700016T>A	ENST00000276204.6	+	8	816	c.742T>A	c.(742-744)Tat>Aat	p.Y248N	DOCK11_ENST00000276202.7_Missense_Mutation_p.Y248N			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	248	PH.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GTTAGATAAATATAGCCATTA	0.378000													5	192					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20396116	20396116	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr16:20396116T>C	ENST00000302451.4	-	3	508	c.260A>G	c.(259-261)gAg>gGg	p.E87G		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	87					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCCCATGATCTCCACAGCTTT	0.502000													175	292					0	0	1	0	0
YTHDF2	51441	broad.mit.edu	37	1	29069475	29069475	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr1:29069475T>G	ENST00000373812.3	+	4	1055	c.693T>G	c.(691-693)atT>atG	p.I231M	YTHDF2_ENST00000542507.1_Missense_Mutation_p.I231M|YTHDF2_ENST00000541996.1_Missense_Mutation_p.I181M|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	231					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCCACCATTGCTCCTCCAA	0.468000													4	167					0	0	1	0	0
SHARPIN	81858	broad.mit.edu	37	8	145154909	145154909	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr8:145154909G>A	ENST00000398712.2	-	3	876	c.440C>T	c.(439-441)cCc>cTc	p.P147L	SHARPIN_ENST00000533948.1_5'UTR	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	147	Self-association (By similarity).				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCTTCCGGGGGACTGGGCAG	0.617000													9	142					0	0	1	0	0
EDF1	8721	broad.mit.edu	37	9	139757897	139757897	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr9:139757897G>T	ENST00000371648.4	-	3	141	c.134C>A	c.(133-135)gCt>gAt	p.A45D	EDF1_ENST00000224073.1_Missense_Mutation_p.A45D|EDF1_ENST00000371649.1_Missense_Mutation_p.A45D	NM_153200.1	NP_694880.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	45	Interaction with NR5A2, PPARG and NR1H3.				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTGGCCAGCAGCCCCTGGAGT	0.542000													3	42					1	1	1	1	0
SLCO6A1	133482	broad.mit.edu	37	5	101834424	101834424	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr5:101834424G>A	ENST00000506729.1	-	1	296	c.125C>T	c.(124-126)tCg>tTg	p.S42L	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.S42L|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.S42L|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.S42L|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.S42L			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	42						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCCGGGCTTCGAGGACTTCGG	0.577000													46	175					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37029041	37029041	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:37029041G>A	ENST00000358047.3	+	1	2610	c.2558G>A	c.(2557-2559)cGt>cAt	p.R853H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	853										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGAAAACTCCGTGACTTCAAG	0.458000													10	130					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6738842	6738842	+	Splice_Site	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr5:6738842G>A	ENST00000230859.6	+	3	266	c.137_splice	c.e3+1	p.S46_splice		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	46					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTTCCAACTAGGTGAGTACCA	0.433000													30	115					0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89060981	89060981	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr4:89060981C>T	ENST00000237612.3	-	2	712	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	ABCG2_ENST00000515655.1_Missense_Mutation_p.R56Q	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	56	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	AACTGGTTTTCGACAAGGTAG	0.358000													6	23					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154132781	154132781	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:154132781C>A	ENST00000360256.4	-	17	5805	c.5605G>T	c.(5605-5607)Ggc>Tgc	p.G1869C		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1869	F5/8 type A 3.|Plastocyanin-like 5.		G -> D (in HEMA; severe).|G -> V (in HEMA; severe).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCAATCAGGCCTGAGTGCACA	0.453000													4	105					0.150653	0.152936	1	1	0
OR4C15	81309	broad.mit.edu	37	11	55322005	55322005	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr11:55322005G>A	ENST00000314644.2	+	1	223	c.223G>A	c.(223-225)Gtt>Att	p.V75I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GAATCCAAATGTTCAGGAAAT	0.408000										HNSCC(20;0.049)			6	128					0	0	1	0	0
IFNA14	3448	broad.mit.edu	37	9	21239548	21239548	+	Silent	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr9:21239548C>T	ENST00000380222.2	-	1	430	c.387G>A	c.(385-387)gtG>gtA	p.V129V		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	129					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GAGTCTCTTCCACCCCAACCT	0.453000													87	179					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr17:7578395G>C	ENST00000420246.2	-	5	667	c.535C>G	c.(535-537)Cat>Gat	p.H179D	TP53_ENST00000445888.2_Missense_Mutation_p.H179D|TP53_ENST00000455263.2_Missense_Mutation_p.H179D|TP53_ENST00000269305.4_Missense_Mutation_p.H179D|TP53_ENST00000413465.2_Missense_Mutation_p.H179D|TP53_ENST00000359597.4_Missense_Mutation_p.H179D|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCGCTCATGGTGGGGGCAG	0.642000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			46	25					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135750295	135750295	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:135750295C>T	ENST00000250617.6	-	22	3429	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K	ARHGEF6_ENST00000535227.1_Missense_Mutation_p.E615K|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.E588K|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.E588K	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	742					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GATTTCAGTTCTTCTTCCAGG	0.458000													5	118					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21054391	21054391	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr12:21054391G>A	ENST00000381545.3	+	15	2074	c.1855G>A	c.(1855-1857)Gta>Ata	p.V619I	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.V619I|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.V619I|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.V619I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	619					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ATATAATTCCGTATTTTTTGG	0.338000													5	80					0	0	1	0	0
TCIRG1	10312	broad.mit.edu	37	11	67816592	67816592	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr11:67816592A>G	ENST00000265686.3	+	15	1826	c.1718A>G	c.(1717-1719)gAg>gGg	p.E573G	TCIRG1_ENST00000532635.1_Missense_Mutation_p.E357G	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	573					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						ACGCTGCCGGAGCTCACCTTC	0.662000													10	171					0	0	1	0	0
DPPA3P2	0	broad.mit.edu	37	14	36841171	36841171	+	RNA	SNP	A	A	G			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr14:36841171A>G	ENST00000557188.1	+	0	802																											CTATGCTAGTATAGACTATAC	0.323000													4	20					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8424286	8424286	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr1:8424286C>T	ENST00000337907.3	-	16	2204	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K	RERE_ENST00000377464.1_Missense_Mutation_p.E256K|RERE_ENST00000400908.2_Missense_Mutation_p.E524K|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	524					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGGATGTTCTCCCGGCCTCCG	0.592000													6	111					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61988150	61988150	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr17:61988150G>C	ENST00000392824.4	-	2	206	c.145C>G	c.(145-147)Ctg>Gtg	p.L49V	CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000309894.5_Missense_Mutation_p.L49V|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000561003.1_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	49						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TCAATGGCCAGCTGGTGTGCG	0.572000													79	129					0	0	1	0	0
FLVCR1	28982	broad.mit.edu	37	1	213032327	213032327	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr1:213032327T>A	ENST00000366971.4	+	1	731	c.533T>A	c.(532-534)cTg>cAg	p.L178Q		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	178					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CTCACCGCCCTGCTGGGCTCC	0.642000													26	56					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56303709	56303709	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr19:56303709G>A	ENST00000443188.1	-	9	3181	c.2471C>T	c.(2470-2472)aCg>aTg	p.T824M	NLRP11_ENST00000592953.1_Missense_Mutation_p.T725M|NLRP11_ENST00000360133.3_Missense_Mutation_p.T770M|NLRP11_ENST00000589824.2_Missense_Mutation_p.T770M|NLRP11_ENST00000589093.1_Missense_Mutation_p.T824M	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	824							ATP binding	p.T824M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAAGGGAAACGTCACATGCAA	0.488000													4	113					0	0	1	0	0
AGRP	181	broad.mit.edu	37	16	67517001	67517001	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr16:67517001C>A	ENST00000290953.2	-	3	442	c.143G>T	c.(142-144)cGg>cTg	p.R48L	RP11-297D21.4_ENST00000602596.1_RNA	NM_001138.1	NP_001129.1	O00253	AGRP_HUMAN	agouti related protein homolog (mouse)	48					hormone-mediated signaling pathway|neuropeptide signaling pathway|regulation of feeding behavior	extracellular space|Golgi lumen	neuropeptide hormone activity			endometrium(1)	1		Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16)		CAGTGGGGCCCGCAGGCCCAG	0.592000													4	99					0.0215528	0.022563	1	1	0
OR10G3	26533	broad.mit.edu	37	14	22038354	22038354	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr14:22038354C>A	ENST00000303532.1	-	1	521	c.522G>T	c.(520-522)caG>caT	p.Q174H		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		AGTAATCCACCTGATTGGGCC	0.572000													4	196					2.56e-06	2.85867e-06	1	1	0
OR52N1	79473	broad.mit.edu	37	11	5809859	5809859	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr11:5809859A>T	ENST00000317078.1	-	1	187	c.188T>A	c.(187-189)gTc>gAc	p.V63D	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGCAAGGAAGACATACATAGG	0.448000													17	50					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29727519	29727519	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr22:29727519C>G	ENST00000357586.2	-	19	2629	c.2443G>C	c.(2443-2445)Gcc>Ccc	p.A815P	AP1B1_ENST00000356015.2_Missense_Mutation_p.A808P|AP1B1_ENST00000432560.2_Missense_Mutation_p.A808P|AP1B1_ENST00000415447.1_Missense_Mutation_p.A808P|AP1B1_ENST00000317368.7_Missense_Mutation_p.A788P|AP1B1_ENST00000402502.1_Missense_Mutation_p.A808P|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000405198.1_Missense_Mutation_p.A815P	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	815					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TTCTTCACGGCCACCTAGGCA	0.577000													10	155					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154132780	154132780	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:154132780C>A	ENST00000360256.4	-	17	5806	c.5606G>T	c.(5605-5607)gGc>gTc	p.G1869V		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1869	F5/8 type A 3.|Plastocyanin-like 5.		G -> D (in HEMA; severe).|G -> V (in HEMA; severe).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCAATCAGGCCTGAGTGCAC	0.448000													4	106					0.150653	0.152936	1	1	0
BCOR	54880	broad.mit.edu	37	X	39933903	39933903	+	Silent	SNP	C	C	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:39933903C>A	ENST00000342274.4	-	4	1058	c.696G>T	c.(694-696)ccG>ccT	p.P232P	BCOR_ENST00000378455.4_Silent_p.P232P|BCOR_ENST00000397354.3_Silent_p.P232P|BCOR_ENST00000378444.4_Silent_p.P232P	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	232					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GAGAATACAGCGGCTGGGCCA	0.562000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						4	79					0.000602214	0.00064045	1	1	0
ITGB2	3689	broad.mit.edu	37	21	46326937	46326937	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr21:46326937G>A	ENST00000397850.2	-	5	673	c.221C>T	c.(220-222)gCg>gTg	p.A74V	ITGB2_ENST00000397852.1_Missense_Mutation_p.A74V|ITGB2_ENST00000397857.1_Missense_Mutation_p.A74V|ITGB2_ENST00000355153.4_Missense_Mutation_p.A74V|ITGB2_ENST00000397854.3_Missense_Mutation_p.A74V|ITGB2_ENST00000302347.5_Missense_Mutation_p.A74V			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	74					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GTCGTCAGCCGCACAGCCCCT	0.617000													4	127					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	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								26	42					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905825	144905825	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:144905825G>T	ENST00000370490.1	+	1	6137	c.1882G>T	c.(1882-1884)Gtt>Ttt	p.V628F	SLITRK2_ENST00000434188.2_Missense_Mutation_p.V628F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.V628F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.V628F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.V628F			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	628						integral to membrane		p.V628L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGCTTGTTGTTTTCATCTT	0.453000													6	94					3.59834e-05	3.95227e-05	1	1	0
PIK3CB	5291	broad.mit.edu	37	3	138474713	138474713	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr3:138474713C>G	ENST00000477593.1	-	3	353	c.280G>C	c.(280-282)Gat>Cat	p.D94H	PIK3CB_ENST00000289153.2_Missense_Mutation_p.D94H			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	94	PI3K-ABD.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CGTGTTTCATCTTCAAGCTCC	0.393000													4	89					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146823889	146823889	+	Silent	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr4:146823889G>A	ENST00000508784.1	-	2	749	c.522C>T	c.(520-522)gcC>gcT	p.A174A	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Silent_p.A174A			Q17R98	ZN827_HUMAN	zinc finger protein 827	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CCTGCTTCTCGGCCAACTTCC	0.532000													24	31					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33291625	33291625	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr14:33291625A>G	ENST00000280979.4	+	13	4776	c.4606A>G	c.(4606-4608)Atg>Gtg	p.M1536V	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1536					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATCTCATGAAATGGATCGCAT	0.358000													6	101					0	0	1	0	0
PLK2	10769	broad.mit.edu	37	5	57751226	57751226	+	Silent	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr5:57751226G>A	ENST00000274289.3	-	12	1941	c.1641C>T	c.(1639-1641)taC>taT	p.Y547Y	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	547	POLO box 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CAAGCTCTGCGTAATAGTGAA	0.378000													6	51					0	0	1	0	0
SLC12A3	0	broad.mit.edu	37	16	56913501	56913501	+	Silent	SNP	C	C	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr16:56913501C>A	ENST00000438926.2	+	11	1412	c.1383C>A	c.(1381-1383)atC>atA	p.I461I	SLC12A3_ENST00000566786.1_Silent_p.I460I|SLC12A3_ENST00000563236.1_Silent_p.I461I|SLC12A3_ENST00000262502.5_Silent_p.I460I	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	461					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CGGCTGGCATCTTCGGGGCCA	0.657000													9	58					0.000442599	0.000478293	1	1	0
PDGFRL	5157	broad.mit.edu	37	8	17486008	17486008	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr8:17486008T>A	ENST00000541323.1	+	5	963	c.518T>A	c.(517-519)cTc>cAc	p.L173H	PDGFRL_ENST00000251630.6_Missense_Mutation_p.L173H|PDGFRL_ENST00000398074.3_Missense_Mutation_p.L173H	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	173						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AAAGGAGAACTCTTTGTACCT	0.498000													7	98					0	0	1	0	0
PLA2G15	23659	broad.mit.edu	37	16	68288858	68288858	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr16:68288858T>C	ENST00000413021.2	+	2	287	c.164T>C	c.(163-165)tTc>tCc	p.F55S	PLA2G15_ENST00000566188.1_Silent_p.F107F|PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000219345.5_Silent_p.F107F			Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	0					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CCACCCAGTTTCCTGATGGTG	0.542000													4	88					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925286	54925286	+	Silent	SNP	G	G	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr12:54925286G>T	ENST00000293373.6	+	24	2695	c.2616G>T	c.(2614-2616)gtG>gtT	p.V872V	NCKAP1L_ENST00000545638.2_Silent_p.V822V	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	872					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGCTGGTGGTGGAAAACATGG	0.498000													49	88					2.43277e-16	2.76264e-16	1	1	0
TRIM41	90933	broad.mit.edu	37	5	180651273	180651273	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr5:180651273G>A	ENST00000315073.5	+	1	984	c.274G>A	c.(274-276)Gag>Aag	p.E92K	TRIM41_ENST00000351937.5_Missense_Mutation_p.E92K	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	92	Glu-rich.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAAGACTACGAGGGTGACAT	0.617000													9	175					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20801759	20801759	+	Silent	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr12:20801759C>T	ENST00000359062.3	+	13	2743	c.2703C>T	c.(2701-2703)gtC>gtT	p.V901V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	901	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GTTTCCTTGTCATTGAAGCAA	0.398000													17	37					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													4	52					0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56950115	56950115	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr11:56950115C>A	ENST00000497933.1	+	1	895	c.748C>A	c.(748-750)Ctg>Atg	p.L250M		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	220	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CATGGAACCCCTGCTGAAGTG	0.622000													58	100					2.02796e-37	2.34264e-37	1	1	0
NBPF3	84224	broad.mit.edu	37	1	21795209	21795209	+	Silent	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr1:21795209C>T	ENST00000318249.5	+	3	512	c.162C>T	c.(160-162)aaC>aaT	p.N54N	NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000342104.5_Silent_p.N54N|NBPF3_ENST00000318220.6_5'UTR	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	54						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGCCACAAACGTCAGCATGG	0.512000											OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	163					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160726	132160726	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:132160726T>C	ENST00000511190.1	-	6	1992	c.1523A>G	c.(1522-1524)cAc>cGc	p.H508R	USP26_ENST00000406273.1_Missense_Mutation_p.H508R|USP26_ENST00000370832.1_Missense_Mutation_p.H508R	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	508					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ACTGAATGAGTGCACTCCAAC	0.383000													96	150					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													4	30					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823	by1000genomes	TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N						ankyrin repeat domain 36C									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000													4	56					0	0	1	0	0
LCOR	84458	broad.mit.edu	37	10	98715304	98715304	+	Silent	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr10:98715304C>T	ENST00000540664.1	+	8	1470	c.927C>T	c.(925-927)ccC>ccT	p.P309P	LCOR_ENST00000498444.1_Intron|LCOR_ENST00000356016.3_Silent_p.P309P|LCOR_ENST00000371097.4_Silent_p.P309P|LCOR_ENST00000371103.3_Silent_p.P309P	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		ATGCTGGACCCGATTCTTGGG	0.478000													4	52					0	0	1	0	0
WDR92	116143	broad.mit.edu	37	2	68371826	68371826	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr2:68371826C>T	ENST00000295121.6	-	3	422	c.306G>A	c.(304-306)atG>atA	p.M102I	WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000406245.2_Start_Codon_SNP_p.M1I|WDR92_ENST00000409164.1_Missense_Mutation_p.M102I	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	102					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						AATATACTGGCATCTCTGGAG	0.363000													6	90					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16982104	16982104	+	Silent	SNP	T	T	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr10:16982104T>C	ENST00000377833.4	-	37	5540	c.5475A>G	c.(5473-5475)ggA>ggG	p.G1825G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1825	CUB 12.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAGGGTATGTCCAACGATGG	0.473000													5	333					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													4	108					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56323949	56323949	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr6:56323949C>G	ENST00000370754.5	-	102	23106	c.23107G>C	c.(23107-23109)Gtg>Ctg	p.V7703L	DST_ENST00000244364.6_Missense_Mutation_p.V5124L|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.V5410L|DST_ENST00000370769.4_Missense_Mutation_p.V7525L|DST_ENST00000370788.2_Missense_Mutation_p.V5328L|DST_ENST00000446842.2_Missense_Mutation_p.V7199L|DST_ENST00000361203.3_Missense_Mutation_p.V7414L			Q03001	DYST_HUMAN	dystonin	7523					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTGAGCACACGGACTGGATT	0.582000													3	51					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102805635	102805635	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr2:102805635G>A	ENST00000264257.2	+	3	284	c.158G>A	c.(157-159)aGt>aAt	p.S53N	IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.S53N	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	53	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GGGGAAGTCAGTGTAACATGG	0.388000													3	57					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57960998	57960998	+	Splice_Site	SNP	T	T	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr12:57960998T>C	ENST00000455537.2	+	7	863		c.e7+2		KIF5A_ENST00000286452.5_Splice_Site	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A						blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CTGTCACCAGTGAGTGAGGAT	0.522000													27	48					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25132947	25132947	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr8:25132947G>C	ENST00000276440.7	+	4	258	c.214G>C	c.(214-216)Gaa>Caa	p.E72Q	DOCK5_ENST00000481100.1_Missense_Mutation_p.E72Q	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	72						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGCAACTGTGGAAGACCTGGG	0.348000													11	28					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70866564	70866564	+	Silent	SNP	A	A	G			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr6:70866564A>G	ENST00000322773.4	+	34	2343	c.2241A>G	c.(2239-2241)ggA>ggG	p.G747G	COL19A1_ENST00000393344.1_Silent_p.G369G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	747	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTTTTTAGGGAAGCAAAGGAG	0.378000													12	22					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166166923	166166923	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr2:166166923C>T	ENST00000375437.2	+	7	1078	c.788C>T	c.(787-789)gCg>gTg	p.A263V	SCN2A_ENST00000283256.6_Missense_Mutation_p.A263V|SCN2A_ENST00000375427.2_Missense_Mutation_p.A263V|SCN2A_ENST00000357398.3_Missense_Mutation_p.A263V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	263			A -> V (in EIEE11).		myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGCGTGTTTGCGCTAATAGGA	0.418000													4	132					0	0	1	0	0
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327													7	31	---	---	---	---					
CDH16	1014	broad.mit.edu	37	16	66943887	66943887	+	Splice_Site	DEL	A	A	-			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr16:66943887delA	ENST00000299752.4	-	16	2469		c.e16+1		CDH16_ENST00000565796.1_Splice_Site|CDH16_ENST00000394055.3_Splice_Site|CDH16_ENST00000570262.1_Splice_Site|CDH16_ENST00000568632.1_Splice_Site	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCCCAATCTCACCTCGAACCA	0.597													47	151	---	---	---	---					
SLC12A5	57468	broad.mit.edu	37	20	44650446	44650447	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr20:44650446_44650447insC	ENST00000454036.1	+	1	118_119	c.42_43insC	c.(40-45)ggccgcfs	p.R15fs	RP11-465L10.10_ENST00000535913.1_RNA	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	15					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCCCCGCAGGGCCCGCCAGAAG	0.723													2	4	---	---	---	---					
ZFX	7543	broad.mit.edu	37	X	24228669	24228669	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:24228669delG	ENST00000379177.1	+	11	2021	c.1594delG	c.(1594-1596)ggfs	p.G532fs	ZFX_ENST00000304543.5_Frame_Shift_Del_p.G532fs|ZFX_ENST00000539115.1_Frame_Shift_Del_p.G303fs|ZFX_ENST00000338565.3_Frame_Shift_Del_p.G482fs|ZFX_ENST00000379188.3_Frame_Shift_Del_p.G532fs|ZFX_ENST00000540034.1_Frame_Shift_Del_p.G571fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AGCTGAACAAGGGTTATTGAA	0.438													36	87	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76875862	76875865	+	Splice_Site	DEL	CACT	CACT	-	rs141240580		TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:76875862_76875865delCACT	ENST00000373344.5	-	20	5484_5487	c.5272_splice	c.e20+1	p.1757_splice	ATRX_ENST00000395603.3_Splice_Site_p.1719_splice|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1757	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(2)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TATTAACTCACACTCAATTAGGTT	0.309			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						8	43	---	---	---	---