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
DPY19L3	147991	broad.mit.edu	37	19	32923652	32923652	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr19:32923652G>C	ENST00000342179.5	+	4	483	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	DPY19L3_ENST00000392250.2_Missense_Mutation_p.E90Q|DPY19L3_ENST00000586987.1_Missense_Mutation_p.E90Q	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	90						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					ATTCAGAACAGAGTGTGGCCT	0.408000													6	86					0	0	0.248553	0	0
PDCD11	22984	broad.mit.edu	37	10	105176373	105176373	+	Silent	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr10:105176373C>T	ENST00000369797.3	+	13	1738	c.1644C>T	c.(1642-1644)ttC>ttT	p.F548F		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	548	S1 motif 6.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CACATGGCTTCATCATCAGGG	0.488000											OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	131					0	0	0.335167	0	0
FCRLB	127943	broad.mit.edu	37	1	161697058	161697058	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr1:161697058C>G	ENST00000367948.2	+	8	1102	c.887C>G	c.(886-888)tCc>tGc	p.S296C	FCRLB_ENST00000392158.1_Missense_Mutation_p.S296C|FCRLB_ENST00000367944.3_Silent_p.L254L|FCRLB_ENST00000367945.1_Missense_Mutation_p.P241A|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000336830.5_Silent_p.L261L|FCRLB_ENST00000367946.3_Missense_Mutation_p.P248A			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	296						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GACCCGGCCTCCACCACCGCC	0.667000													3	47					0	0	0.150653	0	0
C11orf54	28970	broad.mit.edu	37	11	93488478	93488478	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr11:93488478T>G	ENST00000528288.1	+	6	668	c.433T>G	c.(433-435)Tac>Gac	p.Y145D	C11orf54_ENST00000528099.1_Missense_Mutation_p.Y145D|C11orf54_ENST00000354421.3_Missense_Mutation_p.Y145D|C11orf54_ENST00000540113.1_Missense_Mutation_p.Y126D|C11orf54_ENST00000331239.4_Missense_Mutation_p.Y145D	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	145						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACTGGAGAAATACAGTGAGAA	0.423000													4	105					0	0	0.150653	0	0
ZNF676	163223	broad.mit.edu	37	19	22363822	22363822	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr19:22363822C>T	ENST00000397121.2	-	3	1014	c.697G>A	c.(697-699)Gct>Act	p.A233T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CGATTAAAAGCTTTGCCACAT	0.363000													11	179					0	0	0.387290	0	0
LINC00669	647946	broad.mit.edu	37	18	37202131	37202131	+	RNA	SNP	G	G	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr18:37202131G>A	ENST00000591629.1	-	0	282					NR_024391.1																						gacatcacaagactctattga	0.393000													4	75					0	0	0.184627	0	0
FXR1	8087	broad.mit.edu	37	3	180666565	180666565	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr3:180666565T>A	ENST00000357559.4	+	6	860	c.476T>A	c.(475-477)aTt>aAt	p.I159N	FXR1_ENST00000491062.1_Missense_Mutation_p.I110N|FXR1_ENST00000305586.7_Missense_Mutation_p.I74N|FXR1_ENST00000468861.1_Missense_Mutation_p.I74N|FXR1_ENST00000445140.2_Missense_Mutation_p.I159N|FXR1_ENST00000480918.1_Missense_Mutation_p.I146N	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	159					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GCATGCAGAATTTTTTACCAT	0.303000													6	169					0	0	0.278610	0	0
MCM9	254394	broad.mit.edu	37	6	119238864	119238864	+	Missense_Mutation	SNP	G	G	A	rs142688993	byFrequency	TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr6:119238864G>A	ENST00000316316.6	-	5	1052	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	MCM9_ENST00000316068.3_Missense_Mutation_p.R256C	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	256					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		ACTTCACAGCGCACATCTTGC	0.453000													4	189					0	0	0.217242	0	0
UGT1A8	54576	broad.mit.edu	37	2	234527158	234527158	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr2:234527158A>G	ENST00000373450.4	+	1	868	c.805A>G	c.(805-807)Atg>Gtg	p.M269V		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		GATGCCCAATATGATCTTCAT	0.433000													33	408					0	0	0.779181	0	0
GPATCH3	63906	broad.mit.edu	37	1	27226896	27226896	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr1:27226896A>G	ENST00000361720.5	-	1	61	c.38T>C	c.(37-39)gTt>gCt	p.V13A		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	13						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TACCAGGTAAACTGTCGCCTC	0.592000													3	68					0	0	0.150653	0	0
HMGB1	3146	broad.mit.edu	37	13	31037728	31037728	+	Silent	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr13:31037728C>T	ENST00000405805.1	-	2	1030	c.90G>A	c.(88-90)aaG>aaA	p.K30K	HMGB1_ENST00000399489.1_Silent_p.K30K|HMGB1_ENST00000339872.4_Silent_p.K30K|HMGB1_ENST00000326004.4_Silent_p.K30K|HMGB1_ENST00000341423.5_Silent_p.K30K|HMGB1_ENST00000468384.1_5'UTR|HMGB1_ENST00000399494.1_Silent_p.K30K			P09429	HMGB1_HUMAN	high mobility group box 1	30					base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CATCTGGGTGCTTCTTCTTAT	0.408000													6	196					0	0	0.217242	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432666	117432666	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr7:117432666A>G	ENST00000160373.3	-	4	675	c.584T>C	c.(583-585)gTa>gCa	p.V195A	CTTNBP2_ENST00000487820.1_5'UTR	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	195										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTTGGCCATTACGTCTTCGAG	0.483000													3	159					0	0	0.115264	0	0
SPZ1	84654	broad.mit.edu	37	5	79616171	79616171	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr5:79616171C>T	ENST00000296739.4	+	1	382	c.137C>T	c.(136-138)tCc>tTc	p.S46F		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TCCCCTTCCTCCTGGGGCTCT	0.403000													7	225					0	0	0.278610	0	0
SULT6B1	391365	broad.mit.edu	37	2	37410658	37410658	+	Splice_Site	SNP	C	C	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr2:37410658C>G	ENST00000535679.1	-	3	312		c.e3-1		SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Splice_Site|SULT6B1_ENST00000407963.1_Splice_Site			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1							cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				CTTTCATTCTCTTAAAAATAT	0.408000													3	105					0	0	0.115264	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740003	140740003	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr5:140740003C>G	ENST00000522605.1	+	1	301	c.301C>G	c.(301-303)Ctg>Gtg	p.L101V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCAGCCTCTGTGTGTTCT	0.418000													9	140					0	0	0.335167	0	0
RAET1G	353091	broad.mit.edu	37	6	150240360	150240360	+	Silent	SNP	G	G	C			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr6:150240360G>C	ENST00000367360.2	-	3	517	c.450C>G	c.(448-450)ctC>ctG	p.L150L	RP11-244K5.1_ENST00000605899.1_RNA|RP11-244K5.1_ENST00000446954.1_RNA|RAET1G_ENST00000479265.1_Silent_p.L150L|RP11-244K5.8_ENST00000606915.1_RNA	NM_001001788.2	NP_001001788.2	Q6H3X3	RET1G_HUMAN	retinoic acid early transcript 1G	150	MHC class I alpha-2 like.				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		CTGAGTCAAAGAGGAGGAAGA	0.493000													18	183					0	0	0.520397	0	0
USP9X	8239	broad.mit.edu	37	X	41000632	41000632	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chrX:41000632A>G	ENST00000324545.7	+	9	1742	c.1109A>G	c.(1108-1110)cAt>cGt	p.H370R	USP9X_ENST00000378308.2_Missense_Mutation_p.H370R	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	370					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TACTATACTCATCGACATGGT	0.353000													7	33					0	0	0.248553	0	0
CACNG8	59283	broad.mit.edu	37	19	54466602	54466602	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr19:54466602G>A	ENST00000270458.2	+	1	309	c.206G>A	c.(205-207)gGg>gAg	p.G69E		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	69					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CCCCACCGCGGGGGCGGCGGC	0.716000													3	14					0	0	0.150653	0	0
TBC1D1	23216	broad.mit.edu	37	4	38138875	38138875	+	Silent	SNP	G	G	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr4:38138875G>A	ENST00000261439.4	+	20	3781	c.3426G>A	c.(3424-3426)acG>acA	p.T1142T	TBC1D1_ENST00000508802.1_Silent_p.T1133T|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1142						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TGCTGCAGACGGTGGAGGAGC	0.642000													7	60					0	0	0.307466	0	0
PLCB2	5330	broad.mit.edu	37	15	40591135	40591135	+	Silent	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr15:40591135C>T	ENST00000260402.3	-	9	963	c.714G>A	c.(712-714)aaG>aaA	p.K238K	PLCB2_ENST00000456256.2_Silent_p.K238K|PLCB2_ENST00000557821.1_Silent_p.K238K	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	238					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TCAGGTGCTCCTTCGTCATGT	0.577000													9	164					0	0	0.335167	0	0
MAGI2	9863	broad.mit.edu	37	7	77885568	77885568	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr7:77885568C>A	ENST00000354212.4	-	10	1992	c.1739G>T	c.(1738-1740)gGc>gTc	p.G580V	MAGI2_ENST00000535697.1_Missense_Mutation_p.G417V|MAGI2_ENST00000536571.1_Missense_Mutation_p.G412V|MAGI2_ENST00000419488.1_Missense_Mutation_p.G580V|MAGI2_ENST00000522391.1_Missense_Mutation_p.G580V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	580						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGGATACGTGCCGTCTAGCTG	0.507000													4	60					0.000602214	0.00072117	0.184627	1	0
ACTN4	81	broad.mit.edu	37	19	39200969	39200969	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr19:39200969C>G	ENST00000252699.2	+	8	882	c.806C>G	c.(805-807)tCa>tGa	p.S269*	ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	269	Actin-binding.|CH 2.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CATGCCTTTTCAGGAGCGCAG	0.607000													4	218					0	0	0.150653	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761232	92761232	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr7:92761232G>T	ENST00000318238.4	-	5	5269	c.4053C>A	c.(4051-4053)taC>taA	p.Y1351*	SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.Y1351*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.Y1351*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1351										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TAGCATCTTTGTAGTTTGGAT	0.388000													40	232					5.59293e-11	7.13834e-11	0.827153	1	0
RNASE11	122651	broad.mit.edu	37	14	21052160	21052160	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr14:21052160G>T	ENST00000335950.4	-	3	936	c.474C>A	c.(472-474)tgC>tgA	p.C158*	RNASE11_ENST00000398009.2_Nonsense_Mutation_p.C158*|RNASE11_ENST00000555841.1_Nonsense_Mutation_p.C158*|RNASE11_ENST00000398008.2_Nonsense_Mutation_p.C158*|RNASE11_ENST00000553849.1_Nonsense_Mutation_p.C158*|RNASE11_ENST00000432835.2_Nonsense_Mutation_p.C158*	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	158						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		TAGTGAACTGGCACACTGTAT	0.488000													9	85					0.00448238	0.00523845	0.307466	1	0
CNTNAP3B	728577	broad.mit.edu	37	9	43861012	43861012	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr9:43861012C>T	ENST00000377564.3	+	13	2279	c.1886C>T	c.(1885-1887)gCg>gTg	p.A629V		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	629	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GCAGACTCCGCGTGGACGGTG	0.647000													3	7					0	0	0.115264	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784546	140784546	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr5:140784546G>A	ENST00000573521.1	+	1	2027	c.2027G>A	c.(2026-2028)gGc>gAc	p.G676D	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGACCTGGGCAGTCTTCAG	0.592000													9	136					0	0	0.361761	0	0
HTR1D	3352	broad.mit.edu	37	1	23520602	23520602	+	Silent	SNP	G	G	C			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr1:23520602G>C	ENST00000374619.1	-	1	620	c.111C>G	c.(109-111)ctC>ctG	p.L37L	HTR1D_ENST00000314113.3_Silent_p.L37L	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	37					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGGAGATCTTGAGCGCCTGGA	0.567000													9	126					0	0	0.335167	0	0
ANK2	287	broad.mit.edu	37	4	114279897	114279897	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr4:114279897C>G	ENST00000357077.4	+	38	10176	c.10123C>G	c.(10123-10125)Cag>Gag	p.Q3375E	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.Q3342E	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3342					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGTGGCTCCTCAGGGACAGGA	0.468000													9	103					0	0	0.335167	0	0
JAK1	3716	broad.mit.edu	37	1	65307005	65307005	+	Missense_Mutation	SNP	C	C	G	rs67572613		TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr1:65307005C>G	ENST00000342505.4	-	19	2820	c.2572G>C	c.(2572-2574)Gaa>Caa	p.E858Q		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	858					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGTTTTTTTTCTGAAACAATA	0.473000			Mis		ALL								16	143					0	0	0.520397	0	0
SHROOM3	57619	broad.mit.edu	37	4	77692006	77692006	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr4:77692006G>C	ENST00000296043.6	+	10	6530	c.5577G>C	c.(5575-5577)gaG>gaC	p.E1859D	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1859	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCCGTGTTGAGAATGTCCTTA	0.502000													6	157					0	0	0.217242	0	0
CMTR2	55783	broad.mit.edu	37	16	71319121	71319121	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr16:71319121C>A	ENST00000338099.5	-	3	1039	c.703G>T	c.(703-705)Gat>Tat	p.D235Y	FTSJD1_ENST00000434935.2_Missense_Mutation_p.D235Y			Q8IYT2	FTSJ1_HUMAN		235						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAACTCCCATCTGCAGTGACC	0.428000													19	75					9.7654e-05	0.000119904	0.557998	1	0
OR4D2	124538	broad.mit.edu	37	17	56247483	56247483	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr17:56247483C>A	ENST00000545221.1	+	1	467	c.467C>A	c.(466-468)tCt>tAt	p.S156Y		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TTTGTCCACTCTATTGTCCAG	0.567000													12	120					3.07112e-06	3.86881e-06	0.387290	1	0
DHX30	22907	broad.mit.edu	37	3	47882464	47882464	+	Missense_Mutation	SNP	G	G	A	rs139889547		TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr3:47882464G>A	ENST00000446256.2	+	8	919	c.347G>A	c.(346-348)cGt>cAt	p.R116H	DHX30_ENST00000457607.1_Missense_Mutation_p.R183H|DHX30_ENST00000445061.1_Missense_Mutation_p.R155H|DHX30_ENST00000348968.4_Missense_Mutation_p.R127H	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	155	DRBM.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGCTGGTGGCGTCCGGAACCC	0.617000													7	53					0	0	0.335167	0	0
PHF3	23469	broad.mit.edu	37	6	64421505	64421505	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr6:64421505C>G	ENST00000262043.3	+	16	4361	c.4021C>G	c.(4021-4023)Cta>Gta	p.L1341V	PHF3_ENST00000393387.1_Missense_Mutation_p.L1341V			Q92576	PHF3_HUMAN	PHD finger protein 3	1341					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAGACCTAATCTATTGTTGGG	0.373000													13	197					0	0	0.435327	0	0
GNE	10020	broad.mit.edu	37	9	36227321	36227321	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr9:36227321T>C	ENST00000396594.3	-	7	1409	c.1298A>G	c.(1297-1299)cAt>cGt	p.H433R	GNE_ENST00000447283.2_Missense_Mutation_p.H402R|GNE_ENST00000543356.2_Missense_Mutation_p.H397R|GNE_ENST00000539208.1_Missense_Mutation_p.H292R|GNE_ENST00000539815.1_Missense_Mutation_p.H402R|GNE_ENST00000377902.5_Missense_Mutation_p.H402R	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	402	N-acetylmannosamine kinase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TTCAAGAATATGGTCAATATC	0.408000													7	102					0	0	0.278610	0	0
OR8D4	338662	broad.mit.edu	37	11	123777472	123777472	+	Missense_Mutation	SNP	T	T	A	rs139359205		TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr11:123777472T>A	ENST00000321355.2	+	1	364	c.334T>A	c.(334-336)Tgc>Agc	p.C112S		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TATTTCTGAATGCTACATGCT	0.478000													11	251					0	0	0.608945	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806816	33806816	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr17:33806816G>A	ENST00000260908.7	-	2	530	c.413C>T	c.(412-414)gCc>gTc	p.A138V	SLFN12L_ENST00000449046.1_Missense_Mutation_p.A169V|SLFN12L_ENST00000361112.4_Missense_Mutation_p.A167V	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	170						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						GCTCAACGTGGCAATCTGCGG	0.433000													3	35					0	0	0.115264	0	0
LILRB1	10859	broad.mit.edu	37	19	55085362	55085362	+	Missense_Mutation	SNP	C	C	T	rs145704089	byFrequency	TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr19:55085362C>T	ENST00000396321.2	+	1	17	c.17C>T	c.(16-18)aCg>aTg	p.T6M	LILRA2_ENST00000391737.1_Missense_Mutation_p.T6M|LILRA2_ENST00000251376.3_Missense_Mutation_p.T6M|LILRA2_ENST00000391738.3_Missense_Mutation_p.T6M|LILRB1_ENST00000448689.1_Missense_Mutation_p.T6M|LILRB1_ENST00000418536.2_Missense_Mutation_p.T6M|LILRA2_ENST00000251377.3_Missense_Mutation_p.T6M|LILRA2_ENST00000495786.1_Intron			Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	6					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCATCCTCACGGTCCTGATC	0.602000										HNSCC(37;0.09)			13	159					0	0	0.520397	0	0
KIFC1	3833	broad.mit.edu	37	6	33372879	33372879	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr6:33372879C>T	ENST00000428849.2	+	7	1457	c.1007C>T	c.(1006-1008)tCt>tTt	p.S336F		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	336	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CTGTTTCCCTCTGGCCCTGGT	0.682000													5	187					0	0	0.217242	0	0
HMGB1	3146	broad.mit.edu	37	13	31037677	31037677	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr13:31037677C>G	ENST00000405805.1	-	2	1081	c.141G>C	c.(139-141)gaG>gaC	p.E47D	HMGB1_ENST00000399489.1_Missense_Mutation_p.E47D|HMGB1_ENST00000339872.4_Missense_Mutation_p.E47D|HMGB1_ENST00000326004.4_Missense_Mutation_p.E47D|HMGB1_ENST00000341423.5_Missense_Mutation_p.E47D|HMGB1_ENST00000468384.1_5'UTR|HMGB1_ENST00000399494.1_Missense_Mutation_p.E47D			P09429	HMGB1_HUMAN	high mobility group box 1	47					base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CCTTCCACCTCTCTGAGCACT	0.408000													5	243					0	0	0.184627	0	0
ANK2	287	broad.mit.edu	37	4	114279449	114279449	+	Silent	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr4:114279449C>T	ENST00000357077.4	+	38	9728	c.9675C>T	c.(9673-9675)ctC>ctT	p.L3225L	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Silent_p.L3192L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3192					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCAAGGACCTCCCCACCGTGC	0.478000													10	106					0	0	0.361761	0	0
ZFP30	22835	broad.mit.edu	37	19	38126325	38126325	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr19:38126325G>C	ENST00000351218.2	-	6	1674	c.1117C>G	c.(1117-1119)Cag>Gag	p.Q373E	ZFP30_ENST00000392144.1_Missense_Mutation_p.Q373E|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.Q373E	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTATTCTCTGATGGAGAGTT	0.408000													4	137					0	0	0.150653	0	0
ESYT1	23344	broad.mit.edu	37	12	56527377	56527377	+	Silent	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr12:56527377C>T	ENST00000394048.5	+	12	1563	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	ESYT1_ENST00000541590.1_Silent_p.F433F|ESYT1_ENST00000267113.4_Silent_p.F433F	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	433						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TCTAGTGGTTCCCTCTACAAG	0.458000													6	101					0	0	0.335167	0	0
EGF	1950	broad.mit.edu	37	4	110834553	110834553	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr4:110834553C>T	ENST00000265171.5	+	1	507	c.62C>T	c.(61-63)tCa>tTa	p.S21L	EGF_ENST00000509793.1_Missense_Mutation_p.S21L|EGF_ENST00000503392.1_Missense_Mutation_p.S21L	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	21					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GTTAGTCTCTCAGCACCGCAG	0.428000													4	75					0	0	0.184627	0	0
CPLX1	10815	broad.mit.edu	37	4	786392	786392	+	Silent	SNP	G	G	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr4:786392G>A	ENST00000304062.6	-	3	267	c.36C>T	c.(34-36)gcC>gcT	p.A12A	CPLX1_ENST00000505203.1_Silent_p.A12A	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN	complexin 1	12					glutamate secretion	cytosol				kidney(1)|lung(2)	3				Colorectal(103;0.187)		TGTCCTTGGTGGCCCCTGGTA	0.662000													11	93					0	0	0.387290	0	0
CACNA1F	778	broad.mit.edu	37	X	49065126	49065126	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chrX:49065126G>A	ENST00000376265.2	-	43	5066	c.5005C>T	c.(5005-5007)Ccc>Tcc	p.P1669S	CACNA1F_ENST00000376251.1_Missense_Mutation_p.P1604S|CACNA1F_ENST00000323022.5_Missense_Mutation_p.P1658S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1669					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CGAGCTGAGGGCTGGGAGACC	0.567000													3	55					0	0	0.184627	0	0
TYW1B	441250	broad.mit.edu	37	7	72040531	72040531	+	RNA	SNP	G	G	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr7:72040531G>T	ENST00000438125.1	-	0	1399							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GATGTCTTGTGTCCTTGGGAT	0.408000													5	101					0.00116845	0.00138219	0.217242	1	0
DNAH3	55567	broad.mit.edu	37	16	21136514	21136514	+	Silent	SNP	G	G	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr16:21136514G>A	ENST00000261383.3	-	9	1385	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S	DNAH3_ENST00000415178.1_Silent_p.S462S|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	462	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCATGAAAAGGGAAACGAGGT	0.453000													8	113					0	0	0.335167	0	0
NISCH	11188	broad.mit.edu	37	3	52505975	52505975	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr3:52505975T>G	ENST00000345716.4	+	5	689	c.555T>G	c.(553-555)tgT>tgG	p.C185W	NISCH_ENST00000479054.1_Missense_Mutation_p.C185W|NISCH_ENST00000488380.1_Missense_Mutation_p.C185W|NISCH_ENST00000420808.2_Missense_Mutation_p.C185W	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	185	Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		ACTTCACCTGTCGCCTTAAGT	0.617000											OREG0015615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	64					0	0	0.217242	0	0
IMMT	10989	broad.mit.edu	37	2	86374882	86374882	+	Silent	SNP	A	A	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr2:86374882A>G	ENST00000410111.3	-	13	1863	c.1476T>C	c.(1474-1476)gaT>gaC	p.D492D	IMMT_ENST00000449247.2_Silent_p.D481D|IMMT_ENST00000409051.2_Silent_p.D445D|IMMT_ENST00000254636.5_Silent_p.D393D|IMMT_ENST00000442664.2_Silent_p.D491D	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	492						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTCGCAAGTGATCAGTGTGGG	0.478000													8	128					0	0	0.307466	0	0
ACTG1	71	broad.mit.edu	37	17	79478103	79478103	+	Silent	SNP	G	G	T	rs140289614		TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr17:79478103G>T	ENST00000575842.1	-	4	1260	c.834C>A	c.(832-834)acC>acA	p.T278T	AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000331925.2_Silent_p.T278T|ACTG1_ENST00000575087.1_Silent_p.T278T|ACTG1_ENST00000573283.1_Silent_p.T278T			P63261	ACTG_HUMAN	actin, gamma 1	278			T -> I (in DFNA20; dbSNP:rs28999112).		adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TGGAGTTGAAGGTGGTCTCGT	0.552000													9	150					0.0135373	0.0154484	0.411799	1	0
NEURL2	140825	broad.mit.edu	37	20	44519216	44519216	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr20:44519216G>C	ENST00000372518.4	-	1	710	c.415C>G	c.(415-417)Cca>Gca	p.P139A		NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	139	NHR.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				AGGAGGGTTGGAGGTCGGCTG	0.697000													6	54					0	0	0.217242	0	0
TRIM43	129868	broad.mit.edu	37	2	96260870	96260870	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr2:96260870G>A	ENST00000272395.2	+	3	620	c.484G>A	c.(484-486)Gga>Aga	p.G162R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	162						intracellular	zinc ion binding	p.G162R(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATATGAGGAGGGAAGAACAGC	0.398000													3	45					0	0	0.115264	0	0
IGSF22	283284	broad.mit.edu	37	11	18743146	18743146	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr11:18743146C>T	ENST00000513874.1	-	4	453	c.314G>A	c.(313-315)gGc>gAc	p.G105D	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	105	Ig-like 1.							p.G105D(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GATGGGGATGCCGCTCTCCCT	0.592000											OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	201					0	0	0.184627	0	0
TTN	7273	broad.mit.edu	37	2	179436108	179436108	+	Silent	SNP	G	G	C			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr2:179436108G>C	ENST00000589042.1	-	326	74975	c.74751C>G	c.(74749-74751)gtC>gtG	p.V24917V	TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.V15977V|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.V16044V|TTN_ENST00000342992.6_Silent_p.V22349V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.V15852V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V23276V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23276	Fibronectin type-III 81.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGACAGTGTGACAACTGGAG	0.468000													6	157					0	0	0.217242	0	0
PAPSS2	9060	broad.mit.edu	37	10	89472868	89472868	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr10:89472868C>T	ENST00000361175.4	+	3	551	c.182C>T	c.(181-183)gCc>gTc	p.A61V	PAPSS2_ENST00000456849.1_Missense_Mutation_p.A61V|PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000427144.2_Missense_Mutation_p.A65V	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	61					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		ATAAGTTTTGCCCTGGAGGAG	0.473000													5	281					0	0	0.248553	0	0
RICTOR	253260	broad.mit.edu	37	5	38944564	38944564	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr5:38944564C>A	ENST00000357387.3	-	36	4927	c.4897G>T	c.(4897-4899)Gag>Tag	p.E1633*	RICTOR_ENST00000296782.5_Nonsense_Mutation_p.E1657*	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1633					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	p.E1633Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AGCCCAGTCTCATGACATTTA	0.323000													9	214					2.17888e-05	2.70963e-05	0.335167	1	0
SASH1	23328	broad.mit.edu	37	6	148855896	148855896	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr6:148855896C>T	ENST00000367467.3	+	16	2429	c.1954C>T	c.(1954-1956)Ccc>Tcc	p.P652S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	652	SAM 1.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GGAGCACATGCCCACTTTCCT	0.502000													4	132					0	0	0.184627	0	0
VIL1	7429	broad.mit.edu	37	2	219313973	219313973	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr2:219313973C>G	ENST00000248444.5	+	20	2486	c.2398C>G	c.(2398-2400)Cag>Gag	p.Q800E	VIL1_ENST00000392114.2_Missense_Mutation_p.Q489E	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	800	HP.|Headpiece.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGATTTCACTCAGGCCTTTGG	0.493000													6	353					0	0	0.248553	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964688	88964688	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr7:88964688A>T	ENST00000333190.4	+	4	3001	c.2392A>T	c.(2392-2394)Aaa>Taa	p.K798*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	798						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAAATACTCAAAACGTAGATA	0.348000										HNSCC(36;0.09)			9	72					0	0	0.335167	0	0
PITX1	5307	broad.mit.edu	37	5	134364577	134364577	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr5:134364577G>C	ENST00000265340.7	-	3	1253	c.837C>G	c.(835-837)aaC>aaG	p.N279K	PITX1_ENST00000506438.1_Missense_Mutation_p.N279K	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	279	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		CTAGGCTCGAGTTGCACGTGT	0.677000													3	27					0	0	0.115264	0	0
PCLO	27445	broad.mit.edu	37	7	82785433	82785433	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr7:82785433G>T	ENST00000423517.2	-	2	861	c.524C>A	c.(523-525)cCt>cAt	p.P175H	PCLO_ENST00000333891.8_Missense_Mutation_p.P175H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	175					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAAATCAAAAGGGTTGAATTT	0.398000													5	70					0.184627	0.205849	0.184627	1	0
KMT2A	4297	broad.mit.edu	37	11	118390377	118390377	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr11:118390377G>T	ENST00000534358.1	+	32	11214	c.11191G>T	c.(11191-11193)Gtg>Ttg	p.V3731L	KMT2A_ENST00000389506.5_Missense_Mutation_p.V3728L|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000354520.4_Missense_Mutation_p.V3690L|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000528578.1_RNA	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TGATGCAGTTGTGTTCCTCAT	0.502000													16	151					0.000566183	0.000686497	0.520397	1	0
GLUL	2752	broad.mit.edu	37	1	182355001	182355001	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr1:182355001C>T	ENST00000311223.5	-	6	1393	c.497G>A	c.(496-498)gGa>gAa	p.G166E	GLUL_ENST00000417584.2_Missense_Mutation_p.G166E|GLUL_ENST00000339526.4_Missense_Mutation_p.G166E|GLUL_ENST00000331872.6_Missense_Mutation_p.G166E|GLUL_ENST00000491322.1_5'UTR	NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN	glutamate-ammonia ligase	166					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	TCTGTCTGCTCCCACACCACA	0.512000													14	176					0	0	0.557998	0	0
ESR1	2099	broad.mit.edu	37	6	152163869	152163869	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr6:152163869A>G	ENST00000440973.1	+	4	960	c.590A>G	c.(589-591)tAt>tGt	p.Y197C	ESR1_ENST00000406599.1_Intron|ESR1_ENST00000456483.2_Missense_Mutation_p.Y197C|ESR1_ENST00000206249.3_Missense_Mutation_p.Y197C|ESR1_ENST00000338799.5_Missense_Mutation_p.Y197C|ESR1_ENST00000443427.1_Missense_Mutation_p.Y197C|ESR1_ENST00000544394.1_Missense_Mutation_p.Y24C	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	197	Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	GGCTACCATTATGGAGTCTGG	0.453000													8	99					0	0	0.307466	0	0
TNKS2	80351	broad.mit.edu	37	10	93602119	93602119	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr10:93602119G>A	ENST00000371627.4	+	16	2409	c.2030G>A	c.(2029-2031)gGc>gAc	p.G677D		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	677					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GATACCCAAGGCAGACATTCA	0.403000													5	104					0	0	0.217242	0	0
PITPNM2	57605	broad.mit.edu	37	12	123498545	123498545	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr12:123498545C>G	ENST00000280562.5	-	3	328	c.123G>C	c.(121-123)gaG>gaC	p.E41D	PITPNM2_ENST00000542749.1_Missense_Mutation_p.E41D|PITPNM2_ENST00000392428.1_Missense_Mutation_p.E41D|PITPNM2_ENST00000546049.1_Missense_Mutation_p.E41D|PITPNM2_ENST00000320201.4_Missense_Mutation_p.E41D|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	41					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TCTCCAGGATCTCCACGCCGC	0.587000													4	108					0	0	0.150653	0	0
FBN2	2201	broad.mit.edu	37	5	127599146	127599147	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr5:127599146_127599147insC	ENST00000508053.1	-	69	9136_9137	c.8162_8163insG	c.(8161-8163)tccfs	p.S2721fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.S2721fs			P35556	FBN2_HUMAN	fibrillin 2	2721	EGF-like 47; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACCCAGGGGGGCAGCCACAGAG	0.584													17	206	---	---	---	---					
CCT6P3	643180	broad.mit.edu	37	7	64532452	64532452	+	RNA	DEL	T	T	-	rs67432959		TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr7:64532452delT	ENST00000426828.1	+	0	1228					NR_033416.1																						atgcccagccttttttttttt	0.408													4	2	---	---	---	---					
GPR158	57512	broad.mit.edu	37	10	25464475	25464476	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr10:25464475_25464476insA	ENST00000376351.3	+	1	485_486	c.126_127insA	c.(124-129)ggagccfs	p.A43fs	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	43						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCCCGAAGGGGAAGCCGCACGC	0.688													12	51	---	---	---	---					
NPIPA5	100288332	broad.mit.edu	37	16	15457565	15457566	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr16:15457565_15457566delAC	ENST00000360151.4	-	8	1002_1003	c.1003_1004delGT	c.(1003-1005)cfs	p.V335fs		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5																		GAGTGAGCAGACACACTCGGGA	0.446													7	68	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	by1000genomes	TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													3	5	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578222	7578223	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr17:7578222_7578223delTC	ENST00000420246.2	-	6	758_759	c.626_627delGA	c.(625-627)afs	p.R209fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	209	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R209fs*6(38)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.R77fs*6(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.R116fs*6(2)|p.R77K(1)|p.R116K(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*5(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)		GAAAAGTGTTTCTGTCATCCAA	0.535		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)			19	87	---	---	---	---					
AP000705.7	0	broad.mit.edu	37	21	23605003	23605003	+	RNA	DEL	A	A	-	rs66463347		TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr21:23605003delA	ENST00000444130.1	+	0	385																											ggaaggaaggaaaagaaggaa	0.388													2	4	---	---	---	---					
CELSR1	9620	broad.mit.edu	37	22	46777939	46777939	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr22:46777939delG	ENST00000262738.3	-	21	6891	c.6892delC	c.(6892-6894)tgfs	p.L2299fs		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2299					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGCCTCAGCAGGGGGCCTTCT	0.667													2	4	---	---	---	---					
