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
PCK1	5105	broad.mit.edu	37	20	56139236	56139236	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr20:56139236G>A	ENST00000319441.4	+	7	1137	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	PCK1_ENST00000543666.1_Missense_Mutation_p.A8T|PCK1_ENST00000535860.1_Missense_Mutation_p.A193T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	325					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.A325T(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCATTTAAGGGCCATCAACCC	0.448000													9	40					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38995497	38995497	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:38995497A>G	ENST00000355481.4	+	51	8308	c.8177A>G	c.(8176-8178)aAg>aGg	p.K2726R	RYR1_ENST00000360985.3_Missense_Mutation_p.K2726R|RYR1_ENST00000359596.3_Missense_Mutation_p.K2726R	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2726	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAGAGAAAAAGGCCACAGTG	0.597000													3	51					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12439544	12439544	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:12439544A>G	ENST00000358136.3	+	57	11214	c.11084A>G	c.(11083-11085)tAc>tGc	p.Y3695C	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.Y3670C	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3694					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTTTCCAGATACGAGCCACTG	0.498000													36	53					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715396	165715396	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:165715396A>G	ENST00000543069.1	-	2	684	c.103T>C	c.(103-105)Tcc>Ccc	p.S35P	C6orf118_ENST00000230301.8_Missense_Mutation_p.S139P			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	139										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GAAGTGTGGGAAAGAGAGGCC	0.627000													17	103					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47593321	47593321	+	Silent	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:47593321G>A	ENST00000253048.5	-	5	655	c.618C>T	c.(616-618)ggC>ggT	p.G206G	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	206							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCTCCTCGTCGCCCTCATATT	0.577000													39	72					0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170488410	170488410	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:170488410G>A	ENST00000260970.3	+	11	1116	c.896G>A	c.(895-897)aGg>aAg	p.R299K	PPIG_ENST00000462903.1_Missense_Mutation_p.R299K|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Missense_Mutation_p.R284K|PPIG_ENST00000448752.2_Missense_Mutation_p.R299K	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	299					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	gagaaggaaaggaaaaacaga	0.373000													14	16					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26985668	26985668	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr12:26985668G>A	ENST00000381340.3	-	1	463	c.47C>T	c.(46-48)tCc>tTc	p.S16F	ITPR2_ENST00000242737.5_Missense_Mutation_p.S16F	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	16					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CGCGTACAGGGACACGATGTC	0.622000													27	123					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39513460	39513460	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:39513460C>G	ENST00000287152.7	-	11	1280	c.1186G>C	c.(1186-1188)Gaa>Caa	p.E396Q	KIF6_ENST00000373213.4_Missense_Mutation_p.E235Q|KIF6_ENST00000373215.3_Missense_Mutation_p.E396Q|KIF6_ENST00000373216.3_Missense_Mutation_p.E396Q|KIF6_ENST00000538893.1_Missense_Mutation_p.E396Q	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	396					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATTAGTTTTTCCAGCCTAAAA	0.338000													3	57					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145147369	145147369	+	Silent	SNP	T	T	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:145147369T>C	ENST00000558170.2	-	10	4478	c.3294A>G	c.(3292-3294)aaA>aaG	p.K1098K	ZEB2_ENST00000303660.4_Silent_p.K1098K|ZEB2_ENST00000539609.3_Silent_p.K1074K|ZEB2_ENST00000409487.3_Silent_p.K1098K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1098	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCAAGTGCCCTTTCTCGCGCG	0.617000													25	60					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577570	7577570	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr17:7577570C>T	ENST00000420246.2	-	7	843	c.711G>A	c.(709-711)atG>atA	p.M237I	TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000269305.4_Missense_Mutation_p.M237I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (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.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(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)		AACTGTTACACATGTAGTTGT	0.567000		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)			35	51					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77227575	77227575	+	Silent	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr18:77227575C>T	ENST00000253506.5	+	8	2454	c.2085C>T	c.(2083-2085)ccC>ccT	p.P695P	NFATC1_ENST00000545796.1_Silent_p.P223P|NFATC1_ENST00000591814.1_Silent_p.P695P|NFATC1_ENST00000397790.2_Silent_p.P223P|NFATC1_ENST00000329101.4_Silent_p.P682P|NFATC1_ENST00000592223.1_Silent_p.P682P|NFATC1_ENST00000318065.5_Silent_p.P682P|NFATC1_ENST00000542384.1_Silent_p.P695P|NFATC1_ENST00000427363.2_Silent_p.P695P|NFATC1_ENST00000587635.1_3'UTR|NFATC1_ENST00000586434.1_Silent_p.P682P	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	695					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCTACCTTCCCGCCAACGGTA	0.532000													24	46					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87214993	87214993	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:87214993G>A	ENST00000265724.3	-	5	538	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	ABCB1_ENST00000543898.1_Missense_Mutation_p.R41C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	41					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTTGAATAGCGAAACTAAAAA	0.378000													18	35					0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47107968	47107968	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr18:47107968T>C	ENST00000261292.4	+	6	1255	c.977T>C	c.(976-978)aTg>aCg	p.M326T	LIPG_ENST00000580036.1_Missense_Mutation_p.M326T|LIPG_ENST00000577628.1_Missense_Mutation_p.M362T|LIPG_ENST00000427224.2_Missense_Mutation_p.M252T	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	326	Heparin-binding (By similarity).				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GCCAAGAAAATGAGGAACAAG	0.493000													62	77					0	0	1	0	0
MYPOP	339344	broad.mit.edu	37	19	46394511	46394511	+	Silent	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:46394511C>T	ENST00000322217.5	-	3	656	c.570G>A	c.(568-570)caG>caA	p.Q190Q		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	190	Pro-rich.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						AGCCCCCTTCCTGGGGAGTGC	0.677000													6	0					0	0	1	0	0
PCDHGA12	0	broad.mit.edu	37	5	140812212	140812212	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr5:140812212C>T	ENST00000252085.3	+	1	2028	c.1886C>T	c.(1885-1887)gCg>gTg	p.A629V	PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCGCACGGCGCGAGCCCTG	0.687000													12	47					0	0	1	0	0
ZNF57	126295	broad.mit.edu	37	19	2917793	2917793	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:2917793T>C	ENST00000306908.5	+	4	1322	c.1174T>C	c.(1174-1176)Tat>Cat	p.Y392H	ZNF57_ENST00000523428.1_Missense_Mutation_p.Y360H|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCAGCTCTATAAATGTGA	0.438000													4	75					0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97852349	97852349	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr3:97852349C>G	ENST00000354565.2	+	1	808	c.808C>G	c.(808-810)Caa>Gaa	p.Q270E	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AGCAGATGATCAAGATATGGT	0.428000													39	37					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230555	21230555	+	Nonsense_Mutation	SNP	A	A	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:21230555A>C	ENST00000233242.1	-	26	9312	c.9185T>G	c.(9184-9186)tTa>tGa	p.L3062*		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3062					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTTAACCTTAATGGAAAACG	0.408000													4	63					0	0	1	0	0
FGF3	2248	broad.mit.edu	37	11	69631175	69631175	+	Silent	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:69631175C>T	ENST00000334134.2	-	2	327	c.237G>A	c.(235-237)acG>acA	p.T79T		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	79					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity	p.T79T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CCTCCACTGCCGTTATCTCCA	0.622000													4	95					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111617325	111617325	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:111617325T>A	ENST00000428084.1	-	8	835	c.563A>T	c.(562-564)cAt>cTt	p.H188L	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.H188L			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	188					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTTCTTCCGATGTCGATGTTC	0.502000													10	5					0	0	1	0	0
C11orf65	160140	broad.mit.edu	37	11	108256655	108256655	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:108256655T>C	ENST00000525729.1	-	6	701	c.632A>G	c.(631-633)aAc>aGc	p.N211S	C11orf65_ENST00000529391.1_Missense_Mutation_p.N260S|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000393084.1_Missense_Mutation_p.N260S			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	260										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		ACCTTTGAAGTTAGCCGAAGA	0.333000													13	197					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32157564	32157564	+	Silent	SNP	C	C	A	rs151067717		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:32157564C>A	ENST00000375050.4	-	1	399	c.129G>T	c.(127-129)ggG>ggT	p.G43G		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	43							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CTCCCGGGACCCCCCCGCTAC	0.711000													32	55					3.62531e-18	3.80073e-18	1	1	0
C12orf63	0	broad.mit.edu	37	12	97151344	97151344	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr12:97151344C>T	ENST00000524981.3	+	25	3371	c.3371C>T	c.(3370-3372)tCa>tTa	p.S1124L				Q6ZTY8	CL063_HUMAN		1098								p.S1098*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ATAAAAATTTCAGGATCACCA	0.303000													6	15					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S			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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								47	45					2.73361e-28	2.91287e-28	1	1	0
SUZ12P	0	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181	by1000genomes	TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303000													5	84					0	0	1	0	0
CLUL1	27098	broad.mit.edu	37	18	618009	618009	+	Silent	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr18:618009G>A	ENST00000581619.1	+	2	931	c.84G>A	c.(82-84)ccG>ccA	p.P28P	CLUL1_ENST00000400606.2_Silent_p.P3P|CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000540035.1_Silent_p.P55P|CLUL1_ENST00000338387.7_Silent_p.P3P|CLUL1_ENST00000579494.1_Silent_p.P3P			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	3					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						ACATGAAGCCGCCACTCTTGG	0.448000													5	34					0	0	1	0	0
XIAP	331	broad.mit.edu	37	X	123034427	123034427	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chrX:123034427A>G	ENST00000371199.3	+	6	1483	c.1184A>G	c.(1183-1185)gAa>gGa	p.E395G	XIAP_ENST00000468691.1_3'UTR|XIAP_ENST00000355640.3_Missense_Mutation_p.E395G|XIAP_ENST00000434753.3_Missense_Mutation_p.E395G	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	395					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						ATAATGGAGGAAAAAATTCAG	0.368000									X-linked Lymphoproliferative syndrome				31	5					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4185446	4185446	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:4185446G>A	ENST00000404826.2	+	29	4460	c.4321G>A	c.(4321-4323)Gac>Aac	p.D1441N	SDK1_ENST00000389531.3_Missense_Mutation_p.D1441N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1441	Fibronectin type-III 8.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CACAGCCACCGACCTGGCCCC	0.667000													93	48					0	0	1	0	0
NNMT	4837	broad.mit.edu	37	11	114182852	114182852	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:114182852G>A	ENST00000535401.1	+	5	712	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	NNMT_ENST00000299964.3_Missense_Mutation_p.G150R|NNMT_ENST00000542647.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000545255.1_5'UTR|NNMT_ENST00000541754.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	150					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CCAGCCACTGGGGGCCGTCCC	0.602000													82	71					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267032	48267032	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:48267032C>G	ENST00000302329.3	+	1	425	c.377C>G	c.(376-378)aCc>aGc	p.T126S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGCTACACCACCATCATGAAC	0.498000													6	87					0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85952180	85952180	+	Silent	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr16:85952180G>A	ENST00000268638.5	+	7	1181	c.759G>A	c.(757-759)ccG>ccA	p.P253P	IRF8_ENST00000562492.1_Silent_p.P49P	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	253					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				TGCGCTTCCCGCCGGCCGACG	0.741000													14	5					0	0	1	0	0
FAM212B	55924	broad.mit.edu	37	1	112270041	112270041	+	Missense_Mutation	SNP	C	C	T	rs142952172		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:112270041C>T	ENST00000357260.5	-	2	624	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Missense_Mutation_p.R133Q	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	148										cervix(1)|endometrium(1)	2						ATTCCGGCCCCGGGACATCAA	0.587000													34	37					0	0	1	0	0
ZFAND2B	130617	broad.mit.edu	37	2	220072487	220072487	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:220072487C>G	ENST00000409594.1	+	3	463	c.268C>G	c.(268-270)Cag>Gag	p.Q90E	ZFAND2B_ENST00000409412.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000409319.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000409206.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000468301.1_3'UTR|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000289528.5_Missense_Mutation_p.Q90E			Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	90						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGATCCAGCACAGCAAAAACG	0.557000													10	82					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34827130	34827130	+	Silent	SNP	G	G	A	rs73419681	by1000genomes	TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:34827130G>A	ENST00000192788.5	+	14	3168	c.2997G>A	c.(2995-2997)gaG>gaA	p.E999E	UHRF1BP1_ENST00000452449.2_Silent_p.E999E	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	999										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTGGCAGGGAGACTGCTGTGA	0.552000													30	48					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154574313	154574313	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:154574313A>C	ENST00000368474.4	-	2	1004	c.805T>G	c.(805-807)Tcc>Gcc	p.S269A	ADAR_ENST00000292205.5_Missense_Mutation_p.S312A|ADAR_ENST00000368471.3_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	269					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GAGTTTGGGGATCCTTGGCTA	0.488000													4	188					0	0	1	0	0
MGRN1	0	broad.mit.edu	37	16	4732911	4732911	+	Silent	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr16:4732911C>T	ENST00000399577.5	+	14	1539	c.1446C>T	c.(1444-1446)ggC>ggT	p.G482G	MGRN1_ENST00000415496.1_Silent_p.G461G|MGRN1_ENST00000586183.1_Silent_p.G460G|MGRN1_ENST00000588994.1_Silent_p.G460G|MGRN1_ENST00000262370.7_Silent_p.G482G	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	482					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CACTGGGTGGCGCAGAGCTGG	0.701000													12	13					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													3	38					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062722	9062722	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:9062722T>C	ENST00000397910.4	-	3	24927	c.24724A>G	c.(24724-24726)Acc>Gcc	p.T8242A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8244	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACAAGAGTGGTCATCTCTGAG	0.498000													26	25					0	0	1	0	0
CCDC155	147872	broad.mit.edu	37	19	49898432	49898432	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:49898432G>A	ENST00000447857.3	+	4	423	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	73						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CAGGATGCACGCCTCCAAACA	0.622000													5	47					0	0	1	0	0
CPSF7	79869	broad.mit.edu	37	11	61178544	61178544	+	Silent	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:61178544G>A	ENST00000340437.4	-	9	1496	c.1416C>T	c.(1414-1416)agC>agT	p.S472S	CPSF7_ENST00000394888.4_Silent_p.S429S|CPSF7_ENST00000448745.1_Silent_p.S420S|CPSF7_ENST00000439958.3_Silent_p.S420S	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	429					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CCCGGGACCGGCTAGGTGACC	0.502000													46	68					0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3356865	3356865	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr20:3356865T>C	ENST00000252032.9	-	4	435	c.368A>G	c.(367-369)cAt>cGt	p.H123R		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	123										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						ATTTCTCCAATGTGCCACATA	0.368000													35	27					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)		CCTTCCACTCGGATAAGATGC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	38					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580131	82580131	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:82580131T>C	ENST00000423517.2	-	6	10110	c.9773A>G	c.(9772-9774)gAg>gGg	p.E3258G	PCLO_ENST00000333891.8_Missense_Mutation_p.E3258G	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3189					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGCAGCTCCTCCAACTTTTT	0.453000													10	136					0	0	1	0	0
ACAD9	28976	broad.mit.edu	37	3	128628194	128628194	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr3:128628194C>G	ENST00000308982.7	+	15	1574	c.1493C>G	c.(1492-1494)gCc>gGc	p.A498G	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	498						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						TAGGACAGTGCCAACAAGTTT	0.587000													41	86					0	0	1	0	0
HKR1	284459	broad.mit.edu	37	19	37838730	37838730	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:37838730C>T	ENST00000324411.4	+	5	538	c.269C>T	c.(268-270)gCg>gTg	p.A90V	HKR1_ENST00000589392.1_Missense_Mutation_p.A71V|HKR1_ENST00000541583.2_Missense_Mutation_p.A29V|HKR1_ENST00000591134.1_Missense_Mutation_p.A29V|HKR1_ENST00000591417.1_Missense_Mutation_p.A29V|HKR1_ENST00000591259.1_Missense_Mutation_p.A71V|HKR1_ENST00000586897.1_Missense_Mutation_p.A29V|HKR1_ENST00000592168.1_Missense_Mutation_p.A29V|HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000392153.3_Missense_Mutation_p.A71V|HKR1_ENST00000591471.1_5'UTR	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	90	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CGAGGGGAAGCGCCCTGGAGA	0.493000													3	52					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170030513	170030513	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:170030513T>C	ENST00000263816.3	-	56	11215	c.10930A>G	c.(10930-10932)Aat>Gat	p.N3644D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3644	LDL-receptor class A 29.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGCGGCCATTAGCACACCGA	0.542000													33	45					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47897211	47897211	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:47897211G>A	ENST00000289672.2	-	28	4632	c.4582C>T	c.(4582-4584)Cct>Tct	p.P1528S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1528	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACCTGCCCAGGAGCTTGGCTC	0.493000													14	15					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8100386	8100386	+	Silent	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr10:8100386G>A	ENST00000379328.3	+	3	928	c.360G>A	c.(358-360)acG>acA	p.T120T	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Silent_p.T120T	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	120					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.T120T(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCTCCAAGACGTCCATCCACC	0.697000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						75	117					0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151461908	151461908	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr3:151461908G>C	ENST00000356517.3	+	3	498	c.389G>C	c.(388-390)aGa>aCa	p.R130T		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	130						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCCTGAATAGATGGACGGCA	0.358000													41	58					0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95542422	95542422	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:95542422G>A	ENST00000295201.4	+	6	1353	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	406					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.A406P(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GGACATTGCCGCCATGACCAA	0.592000													18	34					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88961080	88961080	+	Missense_Mutation	SNP	C	C	G	rs61754389		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:88961080C>G	ENST00000263321.5	+	3	1628	c.1126C>G	c.(1126-1128)Cag>Gag	p.Q376E		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	376				TMSQVQ -> HVPGT (in Ref. 2; AAA61241).	eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AACAATGTCCCAGGTACAGGG	0.413000													15	103					0	0	1	0	0
FRMD4A	55691	broad.mit.edu	37	10	13698931	13698931	+	Silent	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr10:13698931G>A	ENST00000357447.2	-	22	3026	c.2658C>T	c.(2656-2658)ggC>ggT	p.G886G	FRMD4A_ENST00000358621.4_Silent_p.G871G|FRMD4A_ENST00000378503.1_Silent_p.G886G	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	886						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CGTCGCCGCCGCCGCCGCGCC	0.716000													4	8					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65684524	65684524	+	Silent	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr15:65684524C>T	ENST00000352385.2	-	11	2279	c.2070G>A	c.(2068-2070)gtG>gtA	p.V690V		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	690	Fibronectin type-III 3.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGACAGGCCCCACATCCCAAG	0.622000													52	84					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													3	29					0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172634805	172634805	+	Silent	SNP	C	C	A	rs80358236		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:172634805C>A	ENST00000367721.2	+	4	679	c.495C>A	c.(493-495)acC>acA	p.T165T	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	165					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GGGAAGACACCTATGGAATTG	0.428000													5	68					4.096e-09	4.22603e-09	1	1	0
CDH4	1002	broad.mit.edu	37	20	60498709	60498709	+	Silent	SNP	G	G	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr20:60498709G>T	ENST00000360469.5	+	10	1663	c.1575G>T	c.(1573-1575)gtG>gtT	p.V525V	CDH4_ENST00000543233.1_Silent_p.V451V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	525	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCGGCACCGTGCTGACCACGT	0.622000													3	51					1	1	1	1	0
SLC20A2	6575	broad.mit.edu	37	8	42297083	42297083	+	Silent	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr8:42297083C>T	ENST00000342228.3	-	7	1188	c.819G>A	c.(817-819)gaG>gaA	p.E273E	SLC20A2_ENST00000520262.1_Silent_p.E273E|SLC20A2_ENST00000520179.1_Silent_p.E273E	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	273					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CACCTGGTAGCTCTTTAAATA	0.517000													103	140					0	0	1	0	0
GPBP1	65056	broad.mit.edu	37	5	56546841	56546841	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr5:56546841C>T	ENST00000424459.3	+	11	2367	c.1093C>T	c.(1093-1095)Cga>Tga	p.R365*	GPBP1_ENST00000511209.1_Nonsense_Mutation_p.R337*|GPBP1_ENST00000264779.6_Nonsense_Mutation_p.R352*|GPBP1_ENST00000506184.2_Nonsense_Mutation_p.R345*|GPBP1_ENST00000538707.1_Nonsense_Mutation_p.R352*|GPBP1_ENST00000454432.2_Nonsense_Mutation_p.R365*|GPBP1_ENST00000514387.2_Nonsense_Mutation_p.R174*	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GGATATAAACCGAAACTTCGA	0.353000													15	29					0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31832672	31832674	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:31832672_31832674delAAG	ENST00000544672.1	-	19	1913_1915	c.1617_1619delCTT	c.(1615-1620)ttt>tt	p.FF541del	SLC44A4_ENST00000229729.6_In_Frame_Del_p.FF617del|SLC44A4_ENST00000375562.4_In_Frame_Del_p.FF575del	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	617						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGAGAAAAAAAAGAAGGACAGGA	0.567													8	17	---	---	---	---					
CASP8AP2	9994	broad.mit.edu	37	6	90565237	90565237	+	RNA	DEL	A	A	-			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:90565237delA	ENST00000551025.1	+	0	1711							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGAGCTGATGAAAAAATTTAA	0.279													2	4	---	---	---	---					
FOXP2	93986	broad.mit.edu	37	7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:114270016_114270018delCAG	ENST00000393500.3	+	11	1148_1150	c.328_330delCAG	c.(328-330)del	p.Q116del	FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507													7	70	---	---	---	---					
H2AFX	3014	broad.mit.edu	37	11	118965808	118965809	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:118965808_118965809insC	ENST00000530167.1	-	1	368_369	c.296_297insG	c.(295-297)gggfs	p.G99fs		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	99					DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TCGTCACGCCGCCCAGCAGCTT	0.693								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	73	191	---	---	---	---					
RP11-863P13.2	0	broad.mit.edu	37	16	88226560	88226562	+	RNA	DEL	GAG	GAG	-			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr16:88226560_88226562delGAG	ENST00000568587.1	-	0	91																											tgatgatgatgaggatgatggtg	0.517													4	9	---	---	---	---					
CTB-58E17.3	0	broad.mit.edu	37	17	36861701	36861703	+	RNA	DEL	GAG	GAG	-			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr17:36861701_36861703delGAG	ENST00000583409.1	-	0	208																											CAGAGCGAGCgaggaggaggagg	0.734													3	6	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76937745	76937745	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chrX:76937745delT	ENST00000373344.5	-	9	3217	c.3003delA	c.(3001-3003)aafs	p.K1001fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K963fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1001					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.?(1)		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)	TTTTAATTACTTTTTTCTTAA	0.338			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						52	8	---	---	---	---