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
CUL9	23113	broad.mit.edu	37	6	43164458	43164458	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr6:43164458G>T	ENST00000252050.4	+	11	2745	c.2661G>T	c.(2659-2661)caG>caT	p.Q887H	CUL9_ENST00000372647.2_Missense_Mutation_p.Q887H|CUL9_ENST00000354495.3_Missense_Mutation_p.Q777H	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	887					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGGGAGACCAGATTATAACCC	0.517000													4	99					0.150653	0.150653	1	1	0
FAM160A2	84067	broad.mit.edu	37	11	6236077	6236077	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:6236077G>T	ENST00000265978.4	-	10	2680	c.2322C>A	c.(2320-2322)aaC>aaA	p.N774K	FAM160A2_ENST00000449352.2_Missense_Mutation_p.N760K|FAM160A2_ENST00000529360.1_5'UTR	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	760					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCAGCAGGAAGTTGACATAGA	0.597000													21	1					1.50039e-11	1.64232e-11	1	1	0
ZNF296	162979	broad.mit.edu	37	19	45575175	45575175	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr19:45575175G>C	ENST00000303809.2	-	3	1326	c.1112C>G	c.(1111-1113)cCc>cGc	p.P371R		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	371					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CATCTTTTTGGGTGATGCCTT	0.612000													5	217					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	18					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216246463	216246463	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:216246463C>T	ENST00000366943.2	-	28	6138	c.5752G>A	c.(5752-5754)Gag>Aag	p.E1918K	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.E1918K|RP11-22M7.2_ENST00000446411.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1918	Fibronectin type-III 5.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGACCACCCTCGTAAACACTC	0.478000										HNSCC(13;0.011)			14	16					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4949275	4949275	+	Silent	SNP	G	G	A	rs140083031		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr16:4949275G>A	ENST00000345988.2	-	7	806	c.717C>T	c.(715-717)taC>taT	p.Y239Y	PPL_ENST00000590782.2_Silent_p.Y237Y	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	239					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CACTCCAGTCGTACTGCATGC	0.657000													15	32					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67008130	67008130	+	Missense_Mutation	SNP	A	A	G	rs144122311		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:67008130A>G	ENST00000340001.4	-	23	3345	c.3134T>C	c.(3133-3135)aTt>aCt	p.I1045T	ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Missense_Mutation_p.I1045T|ABCA9_ENST00000453985.2_Missense_Mutation_p.I1045T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1045					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GTAGTCACCAATGCTGCTCAT	0.403000													21	16					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012269	29012269	+	Silent	SNP	C	C	T	rs144276666		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr6:29012269C>T	ENST00000377175.1	-	1	748	c.684G>A	c.(682-684)acG>acA	p.T228T		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T228T(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CTTTTGACTTCGTTCTCAGCA	0.393000													26	63					0	0	1	0	0
GM2A	2760	broad.mit.edu	37	5	150646988	150646988	+	Silent	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr5:150646988C>T	ENST00000357164.3	+	4	883	c.558C>T	c.(556-558)atC>atT	p.I186I		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	186						lysosome|nucleolus	sphingolipid activator protein activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCATCAAGATCGCTGCCTCTC	0.557000													8	34					0	0	1	0	0
TINF2	26277	broad.mit.edu	37	14	24709663	24709663	+	Silent	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr14:24709663C>T	ENST00000399423.4	-	6	1353	c.1023G>A	c.(1021-1023)aaG>aaA	p.K341K	TINF2_ENST00000538777.1_Silent_p.K127K|TINF2_ENST00000540705.1_Silent_p.K306K|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000267415.7_Silent_p.K341K	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	341					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CTGGGTTCTCCTTCAGAGCCC	0.532000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				16	14					0	0	1	0	0
MT-CO1	4512	broad.mit.edu	37	MT	5979	5979	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chrM:5979G>A	ENST00000361624.2	+	1	76	c.76G>A	c.(76-78)Gct>Act	p.26_26insT						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TCGGCGCATGAGCTGGAGTCC	0.502000													19	71					0	0	1	0	0
PCDHB2	0	broad.mit.edu	37	5	140475626	140475626	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr5:140475626G>A	ENST00000194155.4	+	1	1400	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		418	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACCAGATCCGAATACAACAT	0.517000													20	68					0	0	1	0	0
USP48	84196	broad.mit.edu	37	1	22073590	22073590	+	Silent	SNP	A	A	G			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:22073590A>G	ENST00000308271.9	-	8	1609	c.961T>C	c.(961-963)Ttg>Ctg	p.L321L	USP48_ENST00000421625.2_Silent_p.L321L|USP48_ENST00000529637.1_Silent_p.L321L|USP48_ENST00000400301.1_Silent_p.L321L	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	321					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TCCATATCCAAAATTTCTGAG	0.328000													4	12					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62300151	62300151	+	Missense_Mutation	SNP	C	C	T	rs138061218		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:62300151C>T	ENST00000378024.4	-	5	2012	c.1738G>A	c.(1738-1740)Gca>Aca	p.A580T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	580					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACTTTAGGTGCGGCCACATTT	0.507000													30	4					0	0	1	0	0
AEBP2	121536	broad.mit.edu	37	12	19615449	19615449	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr12:19615449G>A	ENST00000266508.9	+	2	678	c.677G>A	c.(676-678)aGc>aAc	p.S226N	AEBP2_ENST00000541908.1_5'UTR|AEBP2_ENST00000360995.4_Missense_Mutation_p.S10N|AEBP2_ENST00000398864.3_Missense_Mutation_p.S226N	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	226	Interaction with RBBP4.|Ser-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					TGTAGCATAAGCAGTACTATA	0.333000													7	11					0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219612366	219612366	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr2:219612366C>T	ENST00000392102.1	+	11	2636	c.2296C>T	c.(2296-2298)Cgg>Tgg	p.R766W	TTLL4_ENST00000258398.4_Missense_Mutation_p.R766W|TTLL4_ENST00000442769.1_Missense_Mutation_p.R702W|TTLL4_ENST00000457313.1_Missense_Mutation_p.R601W	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	766	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GTTTGACCTGCGGATCTATGT	0.498000													19	73					0	0	1	0	0
ZNF286B	729288	broad.mit.edu	37	17	18565523	18565523	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:18565523A>C	ENST00000545289.1	-	5	1546	c.1296T>G	c.(1294-1296)atT>atG	p.I432M		NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						CTCCAGTGTGAATTCTCTGAT	0.388000													19	24					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr12:25398284C>G	ENST00000311936.3	-	2	226	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			9	1					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18635979	18635979	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr9:18635979C>A	ENST00000380548.4	+	6	979	c.640C>A	c.(640-642)Cat>Aat	p.H214N	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.H214N|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.H214N|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.H214N	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	214						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGGAAGTAGACATATTCGCCT	0.348000													28	20					1.32181e-22	1.48704e-22	1	1	0
TUBB8P7	0	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													3	2					0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94369210	94369210	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr10:94369210A>C	ENST00000260731.3	+	6	732	c.642A>C	c.(640-642)ttA>ttC	p.L214F		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	214	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCAAATTTTAGAAAAGGGGG	0.373000													16	185					0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258788	56258788	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:56258788C>T	ENST00000327216.2	-	1	83	c.59G>A	c.(58-60)cGg>cAg	p.R20Q		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TTGTAATTCCCGGCGACTGGT	0.483000													58	5					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126329626	126329626	+	Missense_Mutation	SNP	C	C	T	rs141773516	byFrequency	TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr4:126329626C>T	ENST00000394329.3	+	4	5610	c.5597C>T	c.(5596-5598)aCg>aTg	p.T1866M	FAT4_ENST00000335110.5_Missense_Mutation_p.T164M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1866	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTTTAGCCACGGATGATGAC	0.328000													21	42					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304252	10304252	+	Silent	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:10304252C>T	ENST00000403437.2	-	26	3373	c.3279G>A	c.(3277-3279)ttG>ttA	p.L1093L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1093					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTTGCTTATCAAATTGCTGA	0.333000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				5	15					0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74079821	74079821	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:74079821C>T	ENST00000607838.1	-	20	2126	c.2032G>A	c.(2032-2034)Gtg>Atg	p.V678M	EXOC7_ENST00000411744.2_Missense_Mutation_p.V647M|EXOC7_ENST00000467929.2_Missense_Mutation_p.V627M|EXOC7_ENST00000332065.5_Missense_Mutation_p.V624M|EXOC7_ENST00000405575.4_Missense_Mutation_p.V664M|EXOC7_ENST00000589210.1_Missense_Mutation_p.V655M|EXOC7_ENST00000335146.7_Missense_Mutation_p.V706M	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	706					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GTGAAGGGCACGCTGCCAAAC	0.612000													41	9					0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47533227	47533227	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:47533227T>A	ENST00000334194.3	+	1	68	c.65T>A	c.(64-66)aTg>aAg	p.M22K		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	22						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CTCCTCTGCATGTCTCTGCTG	0.552000													21	19					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161017791	161017791	+	Missense_Mutation	SNP	C	C	T	rs140467510		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:161017791C>T	ENST00000368013.3	-	12	3340	c.3020G>A	c.(3019-3021)cGc>cAc	p.R1007H	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R796H|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R830H	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	1007					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGTCCTTTGGCGGTCCCGGGC	0.582000													4	105					0	0	1	0	0
GAPDH	2597	broad.mit.edu	37	12	6646101	6646101	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr12:6646101A>C	ENST00000229239.5	+	5	918	c.252A>C	c.(250-252)aaA>aaC	p.K84N	GAPDH_ENST00000396858.1_Missense_Mutation_p.K42N|GAPDH_ENST00000396856.1_Missense_Mutation_p.K9N|GAPDH_ENST00000396859.1_Missense_Mutation_p.K84N|GAPDH_ENST00000396861.1_Missense_Mutation_p.K84N	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	84	Interaction with WARS.				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	ATCCCTCCAAAATCAAGTGGG	0.607000													148	161					0	0	1	0	0
KCNIP4	80333	broad.mit.edu	37	4	20760463	20760463	+	Silent	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr4:20760463C>T	ENST00000382148.3	-	3	600	c.264G>A	c.(262-264)tcG>tcA	p.S88S	KCNIP4_ENST00000447367.2_Silent_p.S79S|KCNIP4_ENST00000359001.5_Silent_p.S51S|KCNIP4_ENST00000509207.1_Silent_p.S51S|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382150.4_Silent_p.S92S|KCNIP4_ENST00000382152.2_Silent_p.S113S	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	113	EF-hand 1; degenerate.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				GAAAGAACTGCGAGTAAATCT	0.378000													9	35					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744166	70744166	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr8:70744166G>A	ENST00000260126.3	-	2	1449	c.743C>T	c.(742-744)cCt>cTt	p.P248L	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P248L|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P248L	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	248						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ACAGGCCGGAGGCTCCAAAGT	0.572000													29	15					0	0	1	0	0
FKBP6	8468	broad.mit.edu	37	7	72744195	72744195	+	Missense_Mutation	SNP	G	G	A	rs3950376		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr7:72744195G>A	ENST00000252037.4	+	4	377	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	FKBP6_ENST00000431982.2_Missense_Mutation_p.R98Q|FKBP6_ENST00000413573.2_Missense_Mutation_p.R73Q	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	103	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.R103Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGAGCATGCGGAGAGGAGAG	0.537000													3	27					0	0	1	0	0
ALOX12	239	broad.mit.edu	37	17	6900279	6900279	+	Silent	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:6900279G>A	ENST00000251535.6	+	2	323	c.270G>A	c.(268-270)gcG>gcA	p.A90A	AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	90	PLAT.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						GAGCCTGCGCGGAGGTGGCCT	0.701000													5	11					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													4	75					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832627	130832627	+	Silent	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr2:130832627G>A	ENST00000357462.5	-	15	2511	c.2418C>T	c.(2416-2418)acC>acT	p.T806T	POTEF_ENST00000409914.2_Silent_p.T806T			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	806	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GGGTGGCCTCGGTCAGCAGGA	0.587000													33	221					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326398	57326398	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr19:57326398G>A	ENST00000326441.9	-	10	3775	c.3412C>T	c.(3412-3414)Cgg>Tgg	p.R1138W	PEG3_ENST00000593695.1_Missense_Mutation_p.R1012W|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R1014W|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R1138W|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1138					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTGTACTCCCGACTGTCAACC	0.483000													44	66					0	0	1	0	0
SLMAP	7871	broad.mit.edu	37	3	57882247	57882247	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr3:57882247C>G	ENST00000383718.3	+	14	1405	c.1307C>G	c.(1306-1308)aCa>aGa	p.T436R	SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000449503.2_Missense_Mutation_p.T402R|SLMAP_ENST00000494088.1_5'UTR|SLMAP_ENST00000295951.3_Missense_Mutation_p.T423R|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000295952.3_Missense_Mutation_p.T423R|SLMAP_ENST00000495364.1_5'UTR|SLMAP_ENST00000442599.2_5'UTR|SLMAP_ENST00000428312.1_Missense_Mutation_p.T440R			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	440					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GAAAATCAGACAAGAGCAAAA	0.318000													2	2					0	0	1	0	0
NOP2	4839	broad.mit.edu	37	12	6666174	6666174	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr12:6666174C>G	ENST00000541778.1	-	16	2900	c.2412G>C	c.(2410-2412)caG>caC	p.Q804H	NOP2_ENST00000399466.2_Missense_Mutation_p.Q804H|NOP2_ENST00000322166.5_Missense_Mutation_p.Q808H|NOP2_ENST00000537442.1_Missense_Mutation_p.Q808H|NOP2_ENST00000382421.3_Missense_Mutation_p.Q841H|NOP2_ENST00000545200.1_3'UTR			P46087	NOP2_HUMAN	NOP2 nucleolar protein	808					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						ATAGCAGCAGCTGGCTGTTGC	0.567000													37	35					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142175305	142175305	+	Silent	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr8:142175305C>T	ENST00000519811.1	+	11	1540	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	DENND3_ENST00000262585.2_Silent_p.F410F|DENND3_ENST00000424248.1_Silent_p.F358F			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	410										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTACATGTTCCATTCTTTTC	0.567000													44	51					0	0	1	0	0
HUS1	3364	broad.mit.edu	37	7	48016344	48016344	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr7:48016344C>A	ENST00000258774.5	-	4	471	c.448G>T	c.(448-450)Gtg>Ttg	p.V150L	HUS1_ENST00000432325.1_Missense_Mutation_p.V129L	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	150					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				TCTGGGACCACCGGTTCTTGT	0.458000								Direct reversal of damage;Other conserved DNA damage response genes					24	50					8.24728e-16	9.1511e-16	1	1	0
IVNS1ABP	10625	broad.mit.edu	37	1	185268857	185268857	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:185268857C>T	ENST00000367498.3	-	14	2282	c.1660G>A	c.(1660-1662)Gtg>Atg	p.V554M	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.V336M	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	554					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						AGAACAGCCACTCCAGCTCCT	0.418000													25	99					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6064099	6064099	+	Silent	SNP	G	G	A	rs149678000	byFrequency	TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr4:6064099G>A	ENST00000409021.3	-	10	1949	c.1500C>T	c.(1498-1500)cgC>cgT	p.R500R	JAKMIP1_ENST00000409831.1_Silent_p.R500R|JAKMIP1_ENST00000409371.3_Silent_p.R315R|JAKMIP1_ENST00000282924.5_Silent_p.R500R|JAKMIP1_ENST00000410077.2_Silent_p.R335R	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	500	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGCGTAGGCGCGTTGCAGGG	0.642000													20	22					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344723	20344723	+	Silent	SNP	C	C	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr14:20344723C>A	ENST00000298642.2	+	1	333	c.297C>A	c.(295-297)acC>acA	p.T99T		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTGCCTTACCCAGATATTCT	0.413000													6	152					3.59834e-05	3.83507e-05	1	1	0
PCDH9	5101	broad.mit.edu	37	13	67802394	67802394	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr13:67802394G>A	ENST00000544246.1	-	2	870	c.179C>T	c.(178-180)gCc>gTc	p.A60V	PCDH9_ENST00000456367.1_Missense_Mutation_p.A60V|PCDH9_ENST00000377861.3_Missense_Mutation_p.A60V|PCDH9_ENST00000377865.2_Missense_Mutation_p.A60V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A60V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	60	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GACAAGGCTGGCGCTGGTCCC	0.458000													18	51					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195515483	195515483	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr3:195515483T>C	ENST00000463781.3	-	2	3427	c.2968A>G	c.(2968-2970)Acc>Gcc	p.T990A	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T990A	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	995	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.T990A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGTGTGACCTGTG	0.577000													3	13					0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12858734	12858734	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr3:12858734G>C	ENST00000456430.2	+	10	2344	c.2303G>C	c.(2302-2304)cGt>cCt	p.R768P	CAND2_ENST00000295989.5_Missense_Mutation_p.R675P	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	768					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTAGGGACCCGTCCCCCGTGT	0.637000													16	26					0	0	1	0	0
TSG101	7251	broad.mit.edu	37	11	18503375	18503375	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:18503375A>T	ENST00000536719.1	-	9	1019	c.885T>A	c.(883-885)gaT>gaA	p.D295E	TSG101_ENST00000251968.3_Missense_Mutation_p.D295E|TSG101_ENST00000357193.3_Missense_Mutation_p.D190E			Q99816	TS101_HUMAN	tumor susceptibility 101	295					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						TGAGTTCTTCATCCTTCTTTT	0.363000													10	8					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92346559	92346559	+	Silent	SNP	C	C	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr8:92346559C>A	ENST00000276609.3	+	6	918	c.679C>A	c.(679-681)Cga>Aga	p.R227R	SLC26A7_ENST00000523719.1_Silent_p.R227R|SLC26A7_ENST00000309536.2_Silent_p.R227R	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	227						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CAAGTCTGTGCGACTGGAAGC	0.328000													7	22					0.000274275	0.000288523	1	1	0
SMC1A	8243	broad.mit.edu	37	X	53432289	53432289	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chrX:53432289G>A	ENST00000322213.4	-	12	2073	c.1946C>T	c.(1945-1947)tCa>tTa	p.S649L	SMC1A_ENST00000375340.6_Missense_Mutation_p.S415L	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	649	Flexible hinge.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GATCACTCCTGACTTCTGGAA	0.532000													3	0					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30639046	30639046	+	Silent	SNP	T	T	C			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr6:30639046T>C	ENST00000376442.3	-	2	408	c.213A>G	c.(211-213)ccA>ccG	p.P71P		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	71					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						CTGCCTTTCGTGGTACCTGTC	0.512000													8	243					0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44272877	44272877	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr6:44272877G>A	ENST00000244571.4	-	11	1495	c.1493C>T	c.(1492-1494)gCg>gTg	p.A498V	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	498					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CTCCCCAAGCGCATGGACATC	0.607000											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	71					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141052393	141052393	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr5:141052393G>A	ENST00000239440.4	-	8	1258	c.1193C>T	c.(1192-1194)aCg>aTg	p.T398M	ARAP3_ENST00000508305.1_Missense_Mutation_p.T320M|ARAP3_ENST00000513878.1_Missense_Mutation_p.T60M	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	398	PH 2.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CAGCATGCCCGTGCGGAGGGG	0.672000													15	12					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	28					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71346393	71346393	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:71346393C>G	ENST00000392650.3	-	43	6021	c.6021G>C	c.(6019-6021)aaG>aaC	p.K2007N	SDK2_ENST00000388726.3_Missense_Mutation_p.K1988N|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2007					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACAGGCCGTTCTTTCGGCAGA	0.612000													4	10					0	0	1	0	0
DOK7	285489	broad.mit.edu	37	4	3475359	3475359	+	Silent	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr4:3475359C>T	ENST00000340083.5	+	3	392	c.327C>T	c.(325-327)ggC>ggT	p.G109G	DOK7_ENST00000389653.2_Silent_p.G109G|DOK7_ENST00000507039.1_Silent_p.G109G	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	109	IRS-type PTB.|PH.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ATGCGCTCGGCGAGGGTGAGT	0.706000													4	4					0	0	1	0	0
DNLZ	728489	broad.mit.edu	37	9	139257510	139257510	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr9:139257510C>T	ENST00000371738.3	-	2	373	c.299G>A	c.(298-300)tGc>tAc	p.C100Y	DNLZ_ENST00000371739.3_Intron	NM_001080849.1	NP_001074318.1	Q5SXM8	DNLZ_HUMAN	DNL-type zinc finger	100							metal ion binding			central_nervous_system(1)|prostate(1)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)		GCAGCCGGGGCAGGTCACAAT	0.617000													32	56					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	27					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52715971	52715971	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr19:52715971C>G	ENST00000322088.6	+	5	594	c.536C>G	c.(535-537)cCc>cGc	p.P179R	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	179	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.P179R(21)|p.P179L(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GATGACACCCCCATGGTGCGG	0.612000			Mis		clear cell ovarian carcinoma								19	34					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161019440	161019440	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:161019440G>T	ENST00000368013.3	-	11	1780	c.1460C>A	c.(1459-1461)gCa>gAa	p.A487E	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.A487E|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.A310E	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	487					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GCCTGAGTCTGCCAGGGGACT	0.557000													18	83					1.33834e-09	1.4454e-09	1	1	0
UBBP4	0	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron														p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547000													4	80					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:7578203C>A	ENST00000420246.2	-	6	778	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	TP53_ENST00000455263.2_Missense_Mutation_p.V216L|TP53_ENST00000359597.4_Missense_Mutation_p.V216L|TP53_ENST00000413465.2_Missense_Mutation_p.V216L|TP53_ENST00000445888.2_Missense_Mutation_p.V216L|TP53_ENST00000269305.4_Missense_Mutation_p.V216L|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	216	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(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)		GGCACCACCACACTATGTCGA	0.537000		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)			17	30					0.00074312	0.000771702	1	1	0
GEM	2669	broad.mit.edu	37	8	95262747	95262747	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr8:95262747C>T	ENST00000297596.2	-	5	946	c.682G>A	c.(682-684)Gtg>Atg	p.V228M	GEM_ENST00000396194.2_Missense_Mutation_p.V228M	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	228					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			AGCTCCTTCACGTTGTGCTGG	0.562000													8	36					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195515435	195515435	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr3:195515435C>T	ENST00000463781.3	-	2	3475	c.3016G>A	c.(3016-3018)Gcc>Acc	p.A1006T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A1006T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1008	Repeat.|Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.A1006T(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGCGTGACCTGTG	0.582000													3	5					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24473848	24473848	+	Splice_Site	SNP	A	A	G			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr6:24473848A>G	ENST00000230036.1	-	6	599	c.490_splice	c.e6+1	p.F163_splice	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	163						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AAACAGTACCAAAATCACCAG	0.353000													13	17					0	0	1	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151205104	151205104	+	Silent	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:151205104C>T	ENST00000409426.1	+	6	973	c.528C>T	c.(526-528)gaC>gaT	p.D176D	PIP5K1A_ENST00000368890.4_Silent_p.D175D|PIP5K1A_ENST00000368888.4_Silent_p.D188D|PIP5K1A_ENST00000441902.2_Silent_p.D176D			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	188	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGTCCAGCGACGATGAGTTCA	0.473000													11	42					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179213992	179213992	+	Silent	SNP	C	C	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr2:179213992C>A	ENST00000190611.4	+	12	1405	c.1029C>A	c.(1027-1029)tcC>tcA	p.S343S	OSBPL6_ENST00000409631.1_Silent_p.S343S|OSBPL6_ENST00000409045.3_Silent_p.S312S|OSBPL6_ENST00000392505.2_Silent_p.S368S|OSBPL6_ENST00000359685.3_Silent_p.S343S|OSBPL6_ENST00000357080.4_Silent_p.S312S|OSBPL6_ENST00000315022.2_Silent_p.S347S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	343					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GCTTGCATTCCTCCAACCCCA	0.438000													70	82					2.47556e-37	2.82423e-37	1	1	0
ARNTL	406	broad.mit.edu	37	11	13393792	13393792	+	Silent	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:13393792C>T	ENST00000389708.3	+	13	1258	c.903C>T	c.(901-903)gaC>gaT	p.D301D	ARNTL_ENST00000401424.1_Silent_p.D258D|ARNTL_ENST00000396441.3_Silent_p.D300D|ARNTL_ENST00000403290.1_Silent_p.D301D|ARNTL_ENST00000403482.3_Silent_p.D299D|ARNTL_ENST00000361003.4_Intron|ARNTL_ENST00000403510.3_Silent_p.D257D|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000389707.4_Silent_p.D300D			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	301					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TGGATGAAGACAACGAACCAG	0.498000													35	2					0	0	1	0	0
MT-CO3	4514	broad.mit.edu	37	MT	9380	9380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chrM:9380G>A	ENST00000362079.2	+	1	174	c.174G>A	c.(172-174)tgG>tgA	p.58_58ins*						mitochondrially encoded cytochrome c oxidase III											breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						TACCAATGGTGGCGCGATGTA	0.473000													20	115					0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15760898	15760898	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr19:15760898C>T	ENST00000221307.7	+	7	871	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	CYP4F3_ENST00000585846.1_Missense_Mutation_p.R275C|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000586182.1_Missense_Mutation_p.R275C|CYP4F3_ENST00000591058.1_Missense_Mutation_p.R275C	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	275					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCAGGAGCGGCGCCGCACCCT	0.572000													48	53					0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134253812	134253812	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:134253812G>A	ENST00000524765.1	-	3	4927	c.383C>T	c.(382-384)cCg>cTg	p.P128L	B3GAT1_ENST00000537389.1_Missense_Mutation_p.P141L|B3GAT1_ENST00000312527.4_Missense_Mutation_p.P128L|B3GAT1_ENST00000392580.1_Missense_Mutation_p.P128L			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	128					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CGCGGTCAGCGGCGTCCGGCG	0.716000													8	4					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202245457	202245457	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:202245457C>G	ENST00000367278.3	+	5	541	c.452C>G	c.(451-453)tCc>tGc	p.S151C	LGR6_ENST00000255432.7_Missense_Mutation_p.S99C|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Intron	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	151						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						AACCTCATCTCCCTGGTCCCG	0.617000													12	47					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109793236	109793236	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr13:109793236C>T	ENST00000356711.2	+	32	4736	c.4610C>T	c.(4609-4611)cCg>cTg	p.P1537L	MYO16_ENST00000357550.2_Missense_Mutation_p.P1537L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1537	Pro-rich.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GGGTCGAGCCCGCTGTCCCCG	0.716000													5	16					0	0	1	0	0
LYPLA2	11313	broad.mit.edu	37	1	24119221	24119226	+	In_Frame_Del	DEL	GTGTCT	GTGTCT	-			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:24119221_24119226delGTGTCT	ENST00000374514.3	+	2	356_361	c.49_54delGTGTCT	c.(49-54)del	p.VS17del	LYPLA2_ENST00000400061.1_In_Frame_Del_p.VS17del|LYPLA2_ENST00000374502.3_In_Frame_Del_p.VS17del|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374503.3_In_Frame_Del_p.VS17del|LYPLA2_ENST00000374505.2_In_Frame_Del_p.VS17del	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II	17					fatty acid metabolic process	cytoplasm	hydrolase activity			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TGCTGCCACCGTGTCTGGAGCTGAGC	0.650													20	73	---	---	---	---					
RP11-343N15.1	0	broad.mit.edu	37	1	121116645	121116645	+	RNA	DEL	T	T	-			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:121116645delT	ENST00000437515.1	-	0	329																											CAAGCCCCCCTTTAAAAAAAA	0.393													7	35	---	---	---	---					
RP11-423O2.5	0	broad.mit.edu	37	1	142803276	142803277	+	RNA	INS	-	-	GC			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:142803276_142803277insGC	ENST00000423385.1	-	0	1688_1689																											ACCAAACCAAaacaacaacaac	0.347													3	6	---	---	---	---					
SRGAP2B	0	broad.mit.edu	37	1	144011819	144011820	+	RNA	INS	-	-	T	rs143117611	by1000genomes	TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:144011819_144011820insT	ENST00000467933.1	+	0	915																											tgcctggctaatttttttttgt	0.554													2	4	---	---	---	---					
AF146191.4	0	broad.mit.edu	37	4	190767268	190767268	+	RNA	DEL	C	C	-	rs67659129		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr4:190767268delC	ENST00000511785.1	-	0	425																											ATTCTCCGTGCCGTGTCCCTC	0.627													2	4	---	---	---	---					
AZGP1P1	0	broad.mit.edu	37	7	99578706	99578706	+	RNA	DEL	A	A	-			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr7:99578706delA	ENST00000425474.1	+	0	87					NR_036679.1																						cttagtttacagtgaaaacaa	0.522													2	4	---	---	---	---					
RP11-459E5.1	0	broad.mit.edu	37	8	22566479	22566481	+	RNA	DEL	ATC	ATC	-			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr8:22566479_22566481delATC	ENST00000523627.1	+	0	164																											catcaccatgatcatcatcacca	0.438													3	5	---	---	---	---					
RP11-262H14.1	0	broad.mit.edu	37	9	66466004	66466005	+	RNA	INS	-	-	A	rs139328647		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr9:66466004_66466005insA	ENST00000424345.1	+	0	637_638																											GATTCTTCAGTAAAAAAAAGTA	0.307													4	9	---	---	---	---					
RP11-262H14.3	0	broad.mit.edu	37	9	66530005	66530007	+	RNA	DEL	AAT	AAT	-			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr9:66530005_66530007delAAT	ENST00000445604.2	-	0	669																											AAATACCTTGAATAATAACAGAT	0.493													2	4	---	---	---	---					
PTPN6	5777	broad.mit.edu	37	12	7064144	7064145	+	In_Frame_Ins	INS	-	-	GGTCAT			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr12:7064144_7064145insGGTCAT	ENST00000456013.1	+	4	745_746	c.503_504insGGTCAT	c.(502-504)agt>aGGTCATgt	p.168_168S>RSC	PTPN6_ENST00000447931.2_In_Frame_Ins_p.129_129S>RSC|PTPN6_ENST00000399448.1_In_Frame_Ins_p.170_170S>RSC|PTPN6_ENST00000318974.9_In_Frame_Ins_p.168_168S>RSC	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	168	SH2 2.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						ACCCACATCAAGGTCATGTGCG	0.653													41	77	---	---	---	---					
RP11-146E13.4	0	broad.mit.edu	37	14	19826354	19826354	+	RNA	DEL	C	C	-			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr14:19826354delC	ENST00000548109.1	+	0	72																											GATACCTAGGCCCCTAGTAAA	0.542													2	4	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72821810	72821810	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr16:72821810delG	ENST00000268489.5	-	10	11037	c.10365delC	c.(10363-10365)ccfs	p.P3455fs	ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.P2541fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3455					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAACAATGAAGGGGTCGTAGA	0.582													52	13	---	---	---	---					
RP11-514D23.2	0	broad.mit.edu	37	16	86260245	86260245	+	RNA	DEL	C	C	-			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr16:86260245delC	ENST00000597373.1	-	0	261																											TGTGAACTCACCAAGTGCATT	0.547													2	4	---	---	---	---					
KDM4B	23030	broad.mit.edu	37	19	5119803	5119805	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr19:5119803_5119805delGAG	ENST00000159111.4	+	11	1473_1475	c.1255_1257delGAG	c.(1255-1257)del	p.E424del	KDM4B_ENST00000536461.1_In_Frame_Del_p.E458del	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	424					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGTTGACCCCGAGGAGGAGGAGG	0.709													2	4	---	---	---	---					
RP4-610C12.1	0	broad.mit.edu	37	20	29584135	29584136	+	RNA	INS	-	-	A	rs73621631		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr20:29584135_29584136insA	ENST00000432067.1	-	0	288																											gaccctatttcaaaaaaaTTAT	0.431													4	9	---	---	---	---