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
CDK12	51755	broad.mit.edu	37	17	37687082	37687082	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr17:37687082C>T	ENST00000447079.4	+	14	4019	c.3986C>T	c.(3985-3987)tCc>tTc	p.S1329F	CDK12_ENST00000430627.2_Missense_Mutation_p.S1320F	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1329					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ATGGAGTACTCCACCCGACCC	0.562000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			50	62					0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76343991	76343991	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:76343991G>C	ENST00000312916.7	+	7	1589	c.1207G>C	c.(1207-1209)Gac>Cac	p.D403H		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	403					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GGCAGATGAAGACAAAATTTG	0.343000													3	139					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41564853	41564853	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr22:41564853G>A	ENST00000263253.7	+	25	5373	c.4154G>A	c.(4153-4155)tGc>tAc	p.C1385Y		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1385					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.C1385F(3)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGCTCTGACTGCCCTCCACCC	0.473000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				23	143					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45854898	45854898	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:45854898G>C	ENST00000391945.4	-	23	2349	c.2272C>G	c.(2272-2274)Cag>Gag	p.Q758E	ERCC2_ENST00000391944.3_Missense_Mutation_p.Q680E	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	758					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CAGAGCTGCTGAGCAATCTGC	0.592000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				39	283					0	0	1	0	0
FIP1L1	81608	broad.mit.edu	37	4	54248502	54248502	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr4:54248502G>A	ENST00000507166.1	+	4	228	c.228G>A	c.(226-228)ccG>ccA	p.P76P	FIP1L1_ENST00000306932.6_Splice_Site_p.P61P|FIP1L1_ENST00000510668.1_3'UTR|FIP1L1_ENST00000358575.5_Splice_Site_p.P61P|FIP1L1_ENST00000507922.1_Splice_Site_p.P61P|FIP1L1_ENST00000337488.6_Splice_Site_p.P76P			Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	76	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with PAPOLA.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TACCAAAACCGGTAACATAAG	0.348000			T	PDGFRA	idiopathic hypereosinophilic syndrome								9	69					0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160628465	160628465	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:160628465G>T	ENST00000504764.1	-	39	5546	c.5519C>A	c.(5518-5520)tCt>tAt	p.S1840Y	LY75_ENST00000554112.1_Missense_Mutation_p.S1840Y|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.S1784Y|CD302_ENST00000429078.2_Missense_Mutation_p.S141Y|LY75_ENST00000553424.1_Missense_Mutation_p.S1784Y|CD302_ENST00000480212.1_5'UTR|CD302_ENST00000259053.4_Missense_Mutation_p.S199Y	NM_001198759.1	NP_001185688.1	O60449	LY75_HUMAN		359					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										GGTGAAACGAGAATCAGAATG	0.368000													28	59					2.42023e-17	2.56054e-17	1	1	0
RYR2	6262	broad.mit.edu	37	1	237947659	237947659	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:237947659C>T	ENST00000366574.2	+	90	12964	c.12647C>T	c.(12646-12648)gCg>gTg	p.A4216V	RYR2_ENST00000360064.6_Missense_Mutation_p.A4222V|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.A4200V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4216					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A4214V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGAGGTCAGCGAATAAGGAA	0.542000													25	40					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97869979	97869979	+	Missense_Mutation	SNP	G	G	T	rs111515821		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:97869979G>T	ENST00000420699.2	+	50	3284	c.3040G>T	c.(3040-3042)Gat>Tat	p.D1014Y	ANKRD36_ENST00000461153.2_Missense_Mutation_p.D1014Y	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1014								p.D1014Y(5)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGGAAAAAAGGATGGAGAAAA	0.328000													3	9					0.004672	0.00473689	1	1	0
PCSK4	54760	broad.mit.edu	37	19	1487828	1487828	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:1487828G>A	ENST00000300954.5	-	5	610	c.549C>T	c.(547-549)taC>taT	p.Y183Y	PCSK4_ENST00000587784.1_5'UTR	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	183	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCCGGGTCGTAGTCATTGA	0.692000													3	3					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53056856	53056856	+	Silent	SNP	A	A	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:53056856A>G	ENST00000359798.4	+	5	867	c.687A>G	c.(685-687)aaA>aaG	p.K229K		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGAGAGAAAAATCTTTCCCAT	0.373000													4	229					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34647806	34647806	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr15:34647806G>A	ENST00000537011.1	+	8	1979	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	NUTM1_ENST00000438749.3_Missense_Mutation_p.D523N|NUTM1_ENST00000333756.4_Missense_Mutation_p.D505N	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1																		TGAAGATGGGGATGGGCGGCT	0.582000													8	69					0	0	1	0	0
MXRA8	54587	broad.mit.edu	37	1	1290857	1290857	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:1290857C>A	ENST00000477278.2	-	3	835	c.322G>T	c.(322-324)Gac>Tac	p.D108Y	MXRA8_ENST00000309212.6_Missense_Mutation_p.D117Y|MXRA8_ENST00000445648.2_Missense_Mutation_p.D117Y|MXRA8_ENST00000342753.4_Intron	NM_001282583.1	NP_001269512.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8		Ig-like V-type 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AAGTTGCCGTCGTCGAAGGCC	0.786000													2	4					1	1	1	1	0
ZFYVE9	9372	broad.mit.edu	37	1	52740153	52740153	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:52740153C>G	ENST00000287727.3	+	8	2815	c.2643C>G	c.(2641-2643)ttC>ttG	p.F881L	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.F822L|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.F881L			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	881					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TTTGTCTATTCTCTGGGAGTA	0.398000													6	190					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580672	140580672	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:140580672C>G	ENST00000354757.3	+	1	1325	c.1325C>G	c.(1324-1326)tCt>tGt	p.S442C	PCDHB11_ENST00000536699.1_Missense_Mutation_p.S77C	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		442	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGTTGGTCTCTGACGTCAAT	0.572000													40	228					0	0	1	0	0
C15orf32	145858	broad.mit.edu	37	15	93015655	93015655	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr15:93015655G>C	ENST00000333334.2	+	1	772	c.277G>C	c.(277-279)Gat>Cat	p.D93H	C15orf32_ENST00000556865.1_Missense_Mutation_p.D93H	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	93										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			ctcacgagtggATGGTTTGAT	0.413000													12	63					0	0	1	0	0
CHPF2	54480	broad.mit.edu	37	7	150931207	150931207	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr7:150931207A>G	ENST00000035307.2	+	1	1623	c.110A>G	c.(109-111)gAg>gGg	p.E37G	CHPF2_ENST00000495645.1_Missense_Mutation_p.E29G	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	37						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						ATCCAGGGGGAGGGAGAAGAT	0.607000													3	133					0	0	1	0	0
UBTD1	80019	broad.mit.edu	37	10	99327844	99327844	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:99327844G>A	ENST00000370664.3	+	2	580	c.244G>A	c.(244-246)Gac>Aac	p.D82N		NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	82										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		TGAAGCCAACGACCACGAGCT	0.637000													34	76					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160808060	160808060	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:160808060C>G	ENST00000283243.7	-	24	3537	c.3331G>C	c.(3331-3333)Gat>Cat	p.D1111H	PLA2R1_ENST00000392771.1_Missense_Mutation_p.D1111H	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1111					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGATACATATCAGATGTATTT	0.363000													3	88					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91511157	91511157	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:91511157A>G	ENST00000416354.1	+	24	4313	c.4241A>G	c.(4240-4242)cAg>cGg	p.Q1414R	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.Q1344R|KIF20B_ENST00000371728.3_Missense_Mutation_p.Q1384R|KIF20B_ENST00000394289.2_Missense_Mutation_p.Q1384R			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1384					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CTAGAAGAACAGGAACAAACT	0.358000													27	223					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43400565	43400565	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:43400565C>T	ENST00000244533.3	+	1	1077	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	ABCC10_ENST00000372530.4_Missense_Mutation_p.R283W|ABCC10_ENST00000443426.2_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	283						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGCCTTTGGACGGTGCTATCT	0.627000													4	50					0	0	1	0	0
TBKBP1	9755	broad.mit.edu	37	17	45787901	45787901	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr17:45787901G>A	ENST00000361722.3	+	9	2606	c.1757G>A	c.(1756-1758)tGc>tAc	p.C586Y		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	586					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						ATCCGCAGCTGCCCCCTCTGC	0.602000													4	65					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	76					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104618365	104618365	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:104618365C>T	ENST00000423312.2	+	3	302	c.302C>T	c.(301-303)tCt>tTt	p.S101F	KIF26A_ENST00000315264.7_5'UTR	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	101					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTTGCCTCTCTGCCCTGCTT	0.672000													6	53					0	0	1	0	0
NPIPB11	728888	broad.mit.edu	37	16	29415043	29415043	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr16:29415043G>A	ENST00000524087.1	-	2	155	c.81C>T	c.(79-81)caC>caT	p.H27H	SNX29P2_ENST00000398878.3_lincRNA					nuclear pore complex interacting protein family, member B11									p.H27H(24)									CTGACTTTACGTGCTGCTGCA	0.577000													3	22					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167254660	167254660	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr3:167254660G>A	ENST00000308378.3	-	7	1201	c.896C>T	c.(895-897)aCg>aTg	p.T299M	WDR49_ENST00000453925.2_Missense_Mutation_p.T363M|WDR49_ENST00000476376.1_Missense_Mutation_p.T124M|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	299										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CAATTTACCCGTAACAAGAGT	0.373000													14	26					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr12:56478854G>A	ENST00000267101.3	+	3	750	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	ERBB3_ENST00000415288.2_Missense_Mutation_p.V45M|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Missense_Mutation_p.V104M	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	104			V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.V104M(7)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517000													63	106					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60318751	60318751	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr20:60318751C>T	ENST00000360469.5	+	3	390	c.302C>T	c.(301-303)aCg>aTg	p.T101M	CDH4_ENST00000543233.1_Missense_Mutation_p.T27M|RP11-429E11.2_ENST00000442888.1_RNA|RP11-429E11.2_ENST00000447909.1_RNA	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	101					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GTGGCGTTCACGGTGACTGCA	0.607000													5	12					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156131202	156131202	+	Silent	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:156131202C>G	ENST00000368285.3	+	9	1143	c.876C>G	c.(874-876)ctC>ctG	p.L292L	SEMA4A_ENST00000355014.2_Silent_p.L292L|SEMA4A_ENST00000368284.1_Silent_p.L160L|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Silent_p.L160L|SEMA4A_ENST00000368282.1_Silent_p.L292L	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	292	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCCAGCTGCTCTGCACCCAGC	0.667000													16	102					0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21800133	21800133	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr22:21800133A>G	ENST00000443632.2	+	2	1321	c.949A>G	c.(949-951)Agc>Ggc	p.S317G	HIC2_ENST00000407464.2_Missense_Mutation_p.S317G|HIC2_ENST00000407598.2_Missense_Mutation_p.S317G			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	317					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CAACCACCTGAGCCTGCTGGA	0.657000													7	20					0	0	1	0	0
SPTLC2	9517	broad.mit.edu	37	14	78023409	78023409	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:78023409G>A	ENST00000216484.2	-	7	1124	c.931C>T	c.(931-933)Ctc>Ttc	p.L311F		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	311						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ACAAGGATGAGAATTTTCTTC	0.393000													4	59					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10981933	10981933	+	Silent	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:10981933C>T	ENST00000304623.8	-	21	3558	c.3369G>A	c.(3367-3369)ttG>ttA	p.L1123L	CTNND2_ENST00000359640.2_Silent_p.L1065L|CTNND2_ENST00000458100.2_Silent_p.L690L|CTNND2_ENST00000503622.1_Silent_p.L786L|CTNND2_ENST00000511377.1_Silent_p.L1032L|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1123					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AATTCCTATACAAAGTTGAAA	0.343000													10	125					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32543241	32543241	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr9:32543241A>C	ENST00000360538.2	-	3	1398	c.1282T>G	c.(1282-1284)Tca>Gca	p.S428A	TOPORS_ENST00000379858.1_Missense_Mutation_p.S363A	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	428					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ACCTGCTCTGAGCTTGAGTAA	0.453000													77	27					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	534288	534288	+	Missense_Mutation	SNP	C	C	T	rs104894230		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr11:534288C>T	ENST00000417302.1	-	2	222	c.35G>A	c.(34-36)gGc>gAc	p.G12D	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.G12D|HRAS_ENST00000397596.2_Missense_Mutation_p.G12D|HRAS_ENST00000397594.1_Missense_Mutation_p.G12D|HRAS_ENST00000451590.1_Missense_Mutation_p.G12D	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12V(252)|p.G12D(48)|p.G12A(9)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GCCCACACCGCCGGCGCCCAC	0.647000	G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			39	13					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55658785	55658785	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr11:55658785C>T	ENST00000449290.2	+	7	1128	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y	TRIM51_ENST00000244891.3_Missense_Mutation_p.H203Y	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	346	B30.2/SPRY.					intracellular	zinc ion binding										TTGGGAGGTTCATATGGGGGA	0.428000													12	96					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284277	223284277	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:223284277G>T	ENST00000540964.1	-	4	2558	c.2097C>A	c.(2095-2097)ttC>ttA	p.F699L	TLR5_ENST00000342210.6_Missense_Mutation_p.F699L			O60602	TLR5_HUMAN	toll-like receptor 5	699	TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CTTTGCTGCTGAAGCACAAAT	0.438000													4	90					0.000602214	0.000619178	1	1	0
PEX12	5193	broad.mit.edu	37	17	33903110	33903110	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr17:33903110G>A	ENST00000225873.4	-	3	1378	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	257					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGAACTGCAAGAAGAATACAC	0.468000													37	68					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32563175	32563175	+	Silent	SNP	A	A	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:32563175A>G	ENST00000345122.3	+	2	3615	c.3300A>G	c.(3298-3300)aaA>aaG	p.K1100K	ARHGAP5_ENST00000539826.2_Silent_p.K1100K|ARHGAP5_ENST00000432921.1_Silent_p.K1100K|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Silent_p.K1100K|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1100					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CAATTTTCAAACAGAAGGGCT	0.383000													30	57					0	0	1	0	0
CRLF3	51379	broad.mit.edu	37	17	29119551	29119551	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr17:29119551C>T	ENST00000324238.6	-	6	990	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	CTD-2349P21.9_ENST00000580085.1_lincRNA|CRLF3_ENST00000577725.1_Intron|CRLF3_ENST00000544695.1_Missense_Mutation_p.R173Q	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	289					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TATATTTCTTCGACTGCTCAG	0.418000													41	141					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102334549	102334549	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chrX:102334549G>C	ENST00000395065.3	-	14	1283	c.1182C>G	c.(1180-1182)ttC>ttG	p.F394L	NXF3_ENST00000425644.1_Missense_Mutation_p.F66L	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	394	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGCTATCCTTGAAGAACTTGC	0.507000													17	89					0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793941	17793941	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr11:17793941G>A	ENST00000379472.3	+	2	1330	c.1300G>A	c.(1300-1302)Gtc>Atc	p.V434I	KCNC1_ENST00000265969.6_Missense_Mutation_p.V434I	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	434						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GCCCGTGCCCGTCATCGTGAA	0.577000													15	86					0	0	1	0	0
C6orf211	79624	broad.mit.edu	37	6	151779478	151779478	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:151779478G>A	ENST00000367294.3	+	3	422	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	C6orf211_ENST00000483931.1_3'UTR|C6orf211_ENST00000545879.1_5'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	55							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		CGTGGAAGCTGAAAAGAAAGC	0.348000													16	155					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19491418	19491418	+	Silent	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:19491418C>T	ENST00000375267.2	-	32	4389	c.4386G>A	c.(4384-4386)gtG>gtA	p.V1462V	UBR4_ENST00000375254.3_Silent_p.V1462V|UBR4_ENST00000375217.2_Silent_p.V1462V|UBR4_ENST00000375226.2_Silent_p.V1462V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1462					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCTGCAGGCGCACAGGTTCCA	0.577000													11	59					0	0	1	0	0
SCAMP4	113178	broad.mit.edu	37	19	1924163	1924163	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:1924163G>C	ENST00000316097.8	+	7	837	c.570G>C	c.(568-570)tgG>tgC	p.W190C	SCAMP4_ENST00000409472.1_Missense_Mutation_p.W156C	NM_079834.2	NP_524558.1	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	190					protein transport	integral to membrane							Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACGGAGTGGAACACGGGCA	0.612000													4	26					0	0	1	0	0
MRPL3	11222	broad.mit.edu	37	3	131220433	131220433	+	Silent	SNP	T	T	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr3:131220433T>C	ENST00000264995.3	-	2	366	c.219A>G	c.(217-219)ttA>ttG	p.L73L	MRPL3_ENST00000425847.2_Silent_p.L100L	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	73					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GTTTACTTGCTAATTGGGCTT	0.398000													96	184					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	485324	485324	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:485324G>A	ENST00000264938.3	-	4	707	c.698C>T	c.(697-699)tCt>tTt	p.S233F	SLC9A3_ENST00000514375.1_Missense_Mutation_p.S233F	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	233						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGCCACGAAAGATTCAAACAC	0.632000													26	74					0	0	1	0	0
FIP1L1	81608	broad.mit.edu	37	4	54257217	54257217	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr4:54257217G>C	ENST00000507166.1	+	8	547	c.547G>C	c.(547-549)Gat>Cat	p.D183H	FIP1L1_ENST00000306932.6_Missense_Mutation_p.D168H|FIP1L1_ENST00000358575.5_Missense_Mutation_p.D168H|FIP1L1_ENST00000507922.1_Missense_Mutation_p.D168H|FIP1L1_ENST00000337488.6_Missense_Mutation_p.D183H			Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	183	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GTTTAATGAAGATACCTGGAA	0.303000			T	PDGFRA	idiopathic hypereosinophilic syndrome								4	58					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30672587	30672587	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:30672587G>C	ENST00000376406.3	-	10	5020	c.4373C>G	c.(4372-4374)tCc>tGc	p.S1458C	MDC1_ENST00000376405.2_Missense_Mutation_p.S1194C|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1458	Interaction with the PRKDC complex.|Pro-rich.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	p.S1458Y(1)		breast(2)|kidney(1)|ovary(1)	4						TGTGGAGGTGGAAGGCTGGAG	0.567000								Other conserved DNA damage response genes					41	149					0	0	1	0	0
C15orf37	283687	broad.mit.edu	37	15	80215314	80215314	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr15:80215314G>A	ENST00000560255.1	+	1	202	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	ST20_ENST00000485386.1_Intron|ST20-MTHFS_ENST00000479961.1_Intron|ST20-MTHFS_ENST00000494999.1_Intron					chromosome 15 open reading frame 37											kidney(1)|lung(1)|stomach(1)	3						TGCAAGCCTCGAACCCCCAAC	0.617000													8	55					0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770826	53770826	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:53770826G>A	ENST00000311170.4	-	1	146	c.93C>T	c.(91-93)tcC>tcT	p.S31S		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	31					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		TGCAGTAAAAGGAGAGATAAT	0.507000										HNSCC(26;0.072)			6	78					0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17422584	17422584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr8:17422584C>T	ENST00000470360.1	+	14	2140	c.2023C>T	c.(2023-2025)Caa>Taa	p.Q675*	SLC7A2_ENST00000398090.3_Nonsense_Mutation_p.Q675*|SLC7A2_ENST00000522656.1_Nonsense_Mutation_p.Q636*|SLC7A2_ENST00000004531.10_Nonsense_Mutation_p.Q676*|SLC7A2_ENST00000494857.1_Nonsense_Mutation_p.Q636*			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	636					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ATCTGCCATTCAAGCAAATGA	0.428000													7	28					0	0	1	0	0
LYSMD1	388695	broad.mit.edu	37	1	151134376	151134376	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:151134376C>G	ENST00000368908.5	-	2	1041	c.381G>C	c.(379-381)gaG>gaC	p.E127D	LYSMD1_ENST00000440902.2_Missense_Mutation_p.E79D	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	127					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	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;0.211)			CTGCTCCTGTCTCTTGTTTCT	0.507000													10	70					0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11105485	11105485	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:11105485C>T	ENST00000400897.3	-	4	539	c.524G>A	c.(523-525)cGt>cAt	p.R175H	MASP2_ENST00000400898.3_Missense_Mutation_p.R175H	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	175	EGF-like; calcium-binding.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GCGCTTGTTACGGTGCAGGAC	0.687000													29	47					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214244	140214244	+	Silent	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:140214244C>G	ENST00000525929.1	+	1	276	c.276C>G	c.(274-276)cgC>cgG	p.R92R	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.R92R	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCGACCGCGAGGAGCTGT	0.587000													83	570					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39801075	39801075	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:39801075C>G	ENST00000564288.1	+	37	9592	c.8815C>G	c.(8815-8817)Caa>Gaa	p.Q2939E	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.Q2944E|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.Q2976E|MACF1_ENST00000289893.4_Missense_Mutation_p.Q1379E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2944					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.Q1379E(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGAGAAAATCAAGGGGAAGT	0.378000													8	81					0	0	1	0	0
UROS	7390	broad.mit.edu	37	10	127483469	127483469	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:127483469C>T	ENST00000368797.4	-	9	864	c.640G>A	c.(640-642)Gac>Aac	p.D214N	UROS_ENST00000368786.1_Missense_Mutation_p.D214N|UROS_ENST00000462490.1_5'UTR	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	214					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				TCGATATTGTCACCAGATAAC	0.373000													8	82					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70012016	70012016	+	RNA	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr16:70012016C>T	ENST00000531894.1	-	0	2519				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1																						AGGGGGTGATCTGAAAAAGCC	0.468000													47	293					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39869784	39869784	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:39869784G>A	ENST00000538976.1	+	25	3357	c.3175G>A	c.(3175-3177)Gag>Aag	p.E1059K	DAAM2_ENST00000274867.4_Missense_Mutation_p.E1060K|DAAM2_ENST00000398904.2_Missense_Mutation_p.E1060K	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	1060					actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGTTACCCGGGAGCGGGCAAT	0.612000													12	32					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	22					0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121551496	121551496	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:121551496C>T	ENST00000361976.2	+	5	726	c.560C>T	c.(559-561)tCc>tTc	p.S187F	INPP5F_ENST00000369083.3_Missense_Mutation_p.S187F|INPP5F_ENST00000369081.1_Missense_Mutation_p.S91F	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	187	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTGACCAATTCCGTGCAGAGG	0.507000													27	179					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23699264	23699264	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr12:23699264C>G	ENST00000546136.1	-	11	1546	c.1544G>C	c.(1543-1545)aGt>aCt	p.S515T	SOX5_ENST00000451604.2_Missense_Mutation_p.S528T|SOX5_ENST00000541536.1_Missense_Mutation_p.S407T|SOX5_ENST00000309359.1_Missense_Mutation_p.S515T|SOX5_ENST00000381381.2_Missense_Mutation_p.S407T|SOX5_ENST00000396007.2_Missense_Mutation_p.S142T|SOX5_ENST00000545921.1_Missense_Mutation_p.S518T|SOX5_ENST00000537393.1_Missense_Mutation_p.S493T			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	528					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						AGAATCTCCACTCAGATTGAA	0.343000													7	109					0	0	1	0	0
IP6K3	117283	broad.mit.edu	37	6	33694647	33694647	+	Silent	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:33694647G>C	ENST00000451316.1	-	5	985	c.450C>G	c.(448-450)ctC>ctG	p.L150L	IP6K3_ENST00000293756.4_Silent_p.L150L	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	150					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						CTGGAGTGTTGAGGTGGGGCT	0.647000													6	129					0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94163033	94163033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr7:94163033C>T	ENST00000297273.4	+	7	834	c.547C>T	c.(547-549)Caa>Taa	p.Q183*		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	183						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AGCGCTTTCTCAATATAAAAT	0.318000													14	55					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115220970	115220970	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:115220970G>C	ENST00000369538.3	-	7	1210	c.1163C>G	c.(1162-1164)tCt>tGt	p.S388C	AMPD1_ENST00000353928.6_Missense_Mutation_p.S359C|AMPD1_ENST00000520113.2_Missense_Mutation_p.S392C	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	359			R -> W (in AMPDDM; loss of activity; dbSNP:rs35859650).		purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AACATCCAGAGAATCAACAGT	0.428000													19	150					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	34001199	34001199	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr17:34001199G>C	ENST00000262325.7	+	16	2694	c.2141G>C	c.(2140-2142)tGg>tCg	p.W714S	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Missense_Mutation_p.W690S|AP2B1_ENST00000538556.1_Missense_Mutation_p.W657S|AP2B1_ENST00000589344.1_Missense_Mutation_p.W728S|AP2B1_ENST00000537622.2_Missense_Mutation_p.W728S|AP2B1_ENST00000312678.8_Missense_Mutation_p.W728S	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	714	Pro-rich (stalk region).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TTTCAGGTCTGGCTACCTGCA	0.353000													17	146					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48699002	48699002	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr3:48699002C>G	ENST00000544264.1	-	1	1346	c.1066G>C	c.(1066-1068)Gag>Cag	p.E356Q	CELSR3_ENST00000164024.4_Missense_Mutation_p.E356Q			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	356	Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCCCGGCCTCGCCGGCGTCC	0.672000													12	51					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48699087	48699087	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr17:48699087C>G	ENST00000354983.4	+	33	6262	c.5890C>G	c.(5890-5892)Cta>Gta	p.L1964V	CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.L1987V|CACNA1G_ENST00000359106.5_Missense_Mutation_p.L1998V|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000502264.1_Missense_Mutation_p.L1927V|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000514717.1_Intron	NM_198396.2	NP_938406.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1998					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTCCTGCTCTCTAGCTCTGAC	0.522000													6	54					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233710441	233710441	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:233710441G>A	ENST00000373566.3	+	27	3568		c.e27-1		GIGYF2_ENST00000409196.3_Splice_Site|GIGYF2_ENST00000373563.4_Splice_Site|GIGYF2_ENST00000409451.3_Splice_Site|GIGYF2_ENST00000409547.1_Splice_Site|GIGYF2_ENST00000409480.1_Splice_Site			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2						cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTTTGCTTTAGTAAATCTGTA	0.353000													16	44					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198265573	198265573	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:198265573C>T	ENST00000335508.6	-	18	2675	c.2584G>A	c.(2584-2586)Gaa>Aaa	p.E862K		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.E862K(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTGTACTGTTCGGCTTCATCT	0.373000			Mis		myelodysplastic syndrome								13	82					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48414152	48414152	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:48414152G>A	ENST00000249598.1	-	2	875	c.716C>T	c.(715-717)aCg>aTg	p.T239M		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	239					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GATGTCCAGCGTGTCGCAGCC	0.582000													24	36					0	0	1	0	0
SPTLC2	9517	broad.mit.edu	37	14	78023407	78023407	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:78023407G>A	ENST00000216484.2	-	7	1126	c.933C>T	c.(931-933)ctC>ctT	p.L311L		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	311						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCACAAGGATGAGAATTTTCT	0.393000													5	60					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16008382	16008382	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:16008382C>G	ENST00000221700.6	-	2	135	c.40G>C	c.(40-42)Gtg>Ctg	p.V14L	CYP4F2_ENST00000011989.7_5'UTR	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GATGCTGCCACTGGCCAGAGG	0.672000													11	46					0	0	1	0	0
CXCL11	6373	broad.mit.edu	37	4	76956259	76956259	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr4:76956259C>G	ENST00000306621.3	-	3	411	c.202G>C	c.(202-204)Gaa>Caa	p.E68Q	ART3_ENST00000341029.5_Intron|CXCL11_ENST00000503860.1_Missense_Mutation_p.E68Q	NM_005409.4	NP_005400.1	O14625	CXL11_HUMAN	chemokine (C-X-C motif) ligand 11	68					cell-cell signaling|chemotaxis|inflammatory response|signal transduction	extracellular space	chemokine activity			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCTTTATTTTCTTTCAGGGTA	0.333000													11	73					0	0	1	0	0
DDX51	317781	broad.mit.edu	37	12	132624237	132624237	+	Silent	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr12:132624237C>T	ENST00000397333.3	-	14	1955	c.1917G>A	c.(1915-1917)ctG>ctA	p.L639L		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	639	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CCAGCGGCTGCAGCAGCTTGC	0.612000													3	30					0	0	1	0	0
STARD7-AS1	285033	broad.mit.edu	37	2	96906235	96906235	+	RNA	SNP	T	T	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:96906235T>A	ENST00000446816.1	+	0	618																											TCAACTCTTCTCAGGACCAGA	0.537000													5	88					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36766906	36766906	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr8:36766906G>A	ENST00000399881.3	+	21	2221	c.2184G>A	c.(2182-2184)ccG>ccA	p.P728P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	728	Segment S9.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.P728P(5)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACTCAGCCCCGATGGGGCTTC	0.468000													12	286					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7456742	7456742	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr3:7456742G>A	ENST00000486284.1	+	5	1340	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	GRM7_ENST00000403881.1_Missense_Mutation_p.E356K|GRM7_ENST00000357716.4_Missense_Mutation_p.E356K|GRM7_ENST00000402647.2_Missense_Mutation_p.E356K|GRM7_ENST00000389336.4_Missense_Mutation_p.E356K	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	356					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CCGTACACTTGAAAACAACAG	0.403000													12	31					0	0	1	0	0
AGPAT3	56894	broad.mit.edu	37	21	45401024	45401024	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr21:45401024G>A	ENST00000398063.2	+	8	1490	c.998G>A	c.(997-999)gGa>gAa	p.G333E	AGPAT3_ENST00000546158.1_Missense_Mutation_p.G333E|AGPAT3_ENST00000327505.2_Missense_Mutation_p.G333E|AGPAT3_ENST00000398061.1_Missense_Mutation_p.G333E|AGPAT3_ENST00000398058.1_Missense_Mutation_p.G333E|AGPAT3_ENST00000291572.8_Missense_Mutation_p.G333E|AGPAT3_ENST00000479117.1_3'UTR	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	333					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TTTGCCAGCGGATCACCTCTC	0.572000													13	96					0	0	1	0	0
FBXO27	126433	broad.mit.edu	37	19	39516171	39516171	+	Missense_Mutation	SNP	G	G	C	rs151102214		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:39516171G>C	ENST00000292853.4	-	6	851	c.732C>G	c.(730-732)atC>atG	p.I244M	FBXO27_ENST00000509137.2_Missense_Mutation_p.I244M|FBXO27_ENST00000600828.1_Missense_Mutation_p.I243M	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	244	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CGCCCATCTTGATGTTGGAGA	0.587000													3	52					0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23244697	23244697	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:23244697T>C	ENST00000397532.3	-	7	1576	c.1051A>G	c.(1051-1053)Atc>Gtc	p.I351V	SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397528.4_Missense_Mutation_p.I351V|SLC7A7_ENST00000554517.1_Missense_Mutation_p.I85V|SLC7A7_ENST00000397529.2_Missense_Mutation_p.I351V|SLC7A7_ENST00000285850.7_Missense_Mutation_p.I351V|SLC7A7_ENST00000555702.1_Missense_Mutation_p.I351V			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	351					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TCAACATGGATCATGCAGATG	0.473000													20	107					0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41285143	41285143	+	Splice_Site	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:41285143C>T	ENST00000347132.5	+	5	915	c.833C>T	c.(832-834)aCg>aTg	p.T278M	KCNQ4_ENST00000509682.2_Splice_Site_p.T278M|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	278					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TGGTGGGGGACGGTGCGTGAG	0.627000													9	149					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564215	176564215	+	Missense_Mutation	SNP	C	C	T	rs116090626	by1000genomes	TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:176564215C>T	ENST00000367662.3	+	3	2639	c.1475C>T	c.(1474-1476)tCg>tTg	p.S492L	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S492L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	492	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAGATTCTGTCGCCTTTGCAG	0.522000													21	35					0	0	1	0	0
TMEM260	54916	broad.mit.edu	37	14	57085350	57085350	+	Silent	SNP	C	C	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:57085350C>A	ENST00000261556.6	+	10	1217	c.1095C>A	c.(1093-1095)gcC>gcA	p.A365A	TMEM260_ENST00000538838.1_Silent_p.A365A|TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000553335.1_3'UTR	NM_017799.3	NP_060269.3			transmembrane protein 260																		CAGTAGTGGCCGTCCTCGCTG	0.488000													3	105					1	1	1	1	0
COL27A1	85301	broad.mit.edu	37	9	117002529	117002529	+	Silent	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr9:117002529C>T	ENST00000356083.3	+	20	3148	c.2757C>T	c.(2755-2757)ggC>ggT	p.G919G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	919	Collagen-like 5.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCCCCCTGGCGACAATGGCC	0.642000													65	24					0	0	1	0	0
SRD5A1	6715	broad.mit.edu	37	5	6656219	6656219	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:6656219G>T	ENST00000274192.5	+	3	723	c.489G>T	c.(487-489)ttG>ttT	p.L163F	SRD5A1_ENST00000538824.1_Missense_Mutation_p.L116F|SRD5A1_ENST00000537411.1_3'UTR	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	163					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity	p.L163L(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	CGGGCATGTTGATAAACATCC	0.388000													16	30					1.10513e-12	1.16079e-12	1	1	0
TEAD1	7003	broad.mit.edu	37	11	12946588	12946588	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr11:12946588G>C	ENST00000361905.4	+	11	1623	c.958G>C	c.(958-960)Gaa>Caa	p.E320Q	TEAD1_ENST00000526600.1_Missense_Mutation_p.E239Q|TEAD1_ENST00000334310.6_Missense_Mutation_p.E266Q|TEAD1_ENST00000361985.2_Missense_Mutation_p.E335Q|TEAD1_ENST00000527575.1_Missense_Mutation_p.E277Q|TEAD1_ENST00000527636.1_Missense_Mutation_p.E335Q	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	335	Ser/Thr/Tyr-rich.|Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCAAGTAGTAGAAAAAGTAGA	0.433000													3	59					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62614061	62614061	+	Splice_Site	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:62614061G>C	ENST00000371158.2	+	42	5491	c.5377G>C	c.(5377-5379)Gag>Cag	p.E1793Q		NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1793					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGAAGACACAGAGTGAGTATT	0.478000													35	95					0	0	1	0	0
FAM212B	55924	broad.mit.edu	37	1	112269624	112269624	+	Missense_Mutation	SNP	G	G	A	rs112881255		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:112269624G>A	ENST00000357260.5	-	2	1041	c.860C>T	c.(859-861)tCa>tTa	p.S287L	FAM212B_ENST00000444059.2_Missense_Mutation_p.S272L|FAM212B_ENST00000534365.1_Intron	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	287										cervix(1)|endometrium(1)	2						ATCAAATCCTGAGGGTGAGTG	0.597000													34	310					0	0	1	0	0
UQCRC2	7385	broad.mit.edu	37	16	21968590	21968590	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr16:21968590A>C	ENST00000268379.4	+	2	832	c.68A>C	c.(67-69)aAa>aCa	p.K23T	UQCRC2_ENST00000561553.1_Missense_Mutation_p.K23T	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	23					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CCCAAAGTTAAAGCCACAGCT	0.448000													26	33					0	0	1	0	0
TRIM35	23087	broad.mit.edu	37	8	27145409	27145409	+	Silent	SNP	G	G	A	rs143436239		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr8:27145409G>A	ENST00000305364.4	-	6	1223	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	380	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GGCCCTCAGCGCCCGAGTCCT	0.692000													14	27					0	0	1	0	0
PPP3CB	5532	broad.mit.edu	37	10	75214224	75214224	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:75214224G>C	ENST00000360663.5	-	10	1243	c.1132C>G	c.(1132-1134)Ctg>Gtg	p.L378V	PPP3CB_ENST00000394829.2_Missense_Mutation_p.L378V|PPP3CB_ENST00000544628.1_Missense_Mutation_p.L6V|PPP3CB_ENST00000394822.2_Missense_Mutation_p.L396V|PPP3CB_ENST00000545874.1_Missense_Mutation_p.L292V|PPP3CB_ENST00000342558.3_Missense_Mutation_p.L378V|PPP3CB_ENST00000394828.2_Missense_Mutation_p.L378V			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	378										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					CAAATACTCAGAACATTTACC	0.303000													10	110					0	0	1	0	0
TNNI3K	51086	broad.mit.edu	37	1	74954930	74954930	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:74954930G>A	ENST00000370891.2	+	24	2498	c.2482G>A	c.(2482-2484)Gag>Aag	p.E828K	LRRC53_ENST00000294635.4_Intron|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.E841K|TNNI3K_ENST00000326637.3_Missense_Mutation_p.E727K	NM_001112808.2	NP_001106279.2			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						CTGCAACATTGAGGTAAAAGC	0.373000													6	63					0	0	1	0	0
FANCB	2187	broad.mit.edu	37	X	14882865	14882865	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chrX:14882865G>A	ENST00000398334.1	-	3	1035	c.768C>T	c.(766-768)ctC>ctT	p.L256L	FANCB_ENST00000324138.3_Silent_p.L256L	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	256					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TAAGGGCAATGAGAGATATTC	0.373000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	50					0	0	1	0	0
SCAMP5	192683	broad.mit.edu	37	15	75310744	75310744	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr15:75310744G>A	ENST00000562212.1	+	6	563	c.405G>A	c.(403-405)ctG>ctA	p.L135L	SCAMP5_ENST00000361900.6_Intron|SCAMP5_ENST00000425597.3_Intron|SCAMP5_ENST00000568081.1_Intron|SCAMP5_ENST00000545456.1_Intron			Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	132					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						GCCCCACACTGGCCTCTTCCT	0.577000													58	88					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140228356	140228356	+	Silent	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:140228356C>G	ENST00000378122.3	+	1	1000	c.276C>G	c.(274-276)cgC>cgG	p.R92R	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.R92R	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCGACCGCGAGGAGCTGT	0.587000													46	19					0	0	1	0	0
CMIP	80790	broad.mit.edu	37	16	81712168	81712168	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr16:81712168G>A	ENST00000537098.3	+	10	1395	c.1323G>A	c.(1321-1323)atG>atA	p.M441I	CMIP_ENST00000398040.4_Missense_Mutation_p.M288I|CMIP_ENST00000539778.2_Missense_Mutation_p.M347I|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	407						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						GCAGCACCATGAGCATCGAGC	0.711000													13	17					0	0	1	0	0
ARF6	382	broad.mit.edu	37	14	50360895	50360895	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:50360895G>A	ENST00000298316.5	+	2	988	c.441G>A	c.(439-441)agG>agA	p.R147R		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	147					cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport	cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle	GTP binding|GTPase activity|thioesterase binding			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					TTCGGGACAGGAACTGGTATG	0.542000													6	44					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6188917	6188917	+	Silent	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:6188917G>C	ENST00000262450.3	-	23	3699	c.3600C>G	c.(3598-3600)ctC>ctG	p.L1200L	CHD5_ENST00000378021.1_Silent_p.L57L	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1200					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGTCCTTGAAGAGTTCCTCCG	0.667000													6	69					0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46684211	46684211	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:46684211G>T	ENST00000274793.7	-	4	482	c.286C>A	c.(286-288)Ctt>Att	p.L96I	PLA2G7_ENST00000538237.1_Missense_Mutation_p.L51I|PLA2G7_ENST00000537365.1_Missense_Mutation_p.L96I|PLA2G7_ENST00000541026.1_Intron	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	96					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			GGGATCCAAAGGGTGTCAAGG	0.373000													7	73					2.74318e-10	2.86074e-10	1	1	0
XRCC6	2547	broad.mit.edu	37	22	42042976	42042976	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr22:42042976C>T	ENST00000359308.4	+	6	1505	c.850C>T	c.(850-852)Cct>Tct	p.P284S	XRCC6_ENST00000402580.3_Missense_Mutation_p.P243S|XRCC6_ENST00000360079.3_Missense_Mutation_p.P284S|XRCC6_ENST00000405506.1_Missense_Mutation_p.P234S|XRCC6_ENST00000428575.2_Missense_Mutation_p.P151S|XRCC6_ENST00000405878.1_Missense_Mutation_p.P284S			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	284	Ku.				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						TCTCAAGCCTCCTCCAATAAA	0.433000								Non-homologous end-joining					25	217					0	0	1	0	0
SERPINH1	871	broad.mit.edu	37	11	75277927	75277927	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr11:75277927C>T	ENST00000524558.1	+	2	1968	c.533C>T	c.(532-534)gCg>gTg	p.A178V	SERPINH1_ENST00000530284.1_Missense_Mutation_p.A178V|SERPINH1_ENST00000533603.1_Missense_Mutation_p.A178V|SERPINH1_ENST00000358171.3_Missense_Mutation_p.A178V			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	178					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GAGTGGGCCGCGCAGACCACC	0.637000													9	60					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63175164	63175164	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:63175164G>A	ENST00000322893.7	-	11	2297	c.2029C>T	c.(2029-2031)Cgt>Tgt	p.R677C	KCNH5_ENST00000420622.2_Missense_Mutation_p.S611L	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	677					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.R677C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTGATCTTACGAAAGATGATC	0.458000													3	62					0	0	1	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158562	26158562	+	Missense_Mutation	SNP	C	C	G	rs141600148	byFrequency	TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:26158562C>G	ENST00000289316.2	+	1	189	c.165C>G	c.(163-165)atC>atG	p.I55M	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.I55M	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	55					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						ACACCGGCATCTCTTCCAAGG	0.562000													30	245					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199958	71199958	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:71199958C>T	ENST00000554752.2	-	11	2127	c.2128G>A	c.(2128-2130)Gat>Aat	p.D710N	MAP3K9_ENST00000553414.1_Missense_Mutation_p.D443N|MAP3K9_ENST00000555993.2_Missense_Mutation_p.D724N|MAP3K9_ENST00000554146.1_Missense_Mutation_p.D438N|MAP3K9_ENST00000381250.4_Missense_Mutation_p.D687N	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	710					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAGGGGCCATCGCCATCCTCT	0.617000													6	75					0	0	1	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86173471	86173471	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:86173471T>C	ENST00000431532.2	-	2	528	c.380A>G	c.(379-381)aAg>aGg	p.K127R	ZNHIT6_ENST00000370574.3_Missense_Mutation_p.K166R	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	166	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ACCAACAAACTTCTCCTCCTG	0.408000													29	237					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118485340	118485340	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:118485340C>T	ENST00000311085.8	+	18	3898	c.3818C>T	c.(3817-3819)tCt>tTt	p.S1273F	DMXL1_ENST00000539542.1_Missense_Mutation_p.S1273F	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1273										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AACTCCAGTTCTGGGTTACAT	0.403000													7	69					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103185777	103185777	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr7:103185777C>G	ENST00000428762.1	-	42	6476	c.6317G>C	c.(6316-6318)aGa>aCa	p.R2106T	RELN_ENST00000343529.5_Missense_Mutation_p.R2106T|RELN_ENST00000424685.2_Missense_Mutation_p.R2106T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2106					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGGTACCATCTGAAACGGAC	0.453000													12	42					0	0	1	0	0
DKK3	27122	broad.mit.edu	37	11	12030017	12030017	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr11:12030017A>T	ENST00000396505.2	-	2	351	c.113T>A	c.(112-114)cTc>cAc	p.L38H	DKK3_ENST00000525493.1_Missense_Mutation_p.L38H|DKK3_ENST00000326932.4_Missense_Mutation_p.L38H|DKK3_ENST00000450094.2_Missense_Mutation_p.L38H|DKK3_ENST00000527132.1_5'UTR	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	38	O-glycosylated at one site.				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		CGGGTAGCTGAGAGCCGGGCC	0.701000													30	5					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65403111	65403111	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr11:65403111C>T	ENST00000355703.3	+	32	5835	c.5296C>T	c.(5296-5298)Cgc>Tgc	p.R1766C		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1766						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCAGGCGCTTCGCAACATGAT	0.677000													8	21					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24521611	24521611	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:24521611G>C	ENST00000355123.4	-	13	1860	c.1417C>G	c.(1417-1419)Caa>Gaa	p.Q473E	ITSN2_ENST00000406921.3_Missense_Mutation_p.Q473E|ITSN2_ENST00000361999.3_Missense_Mutation_p.Q473E	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	473					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTATTCTTTTGATTGAGAAGC	0.368000													11	101					0	0	1	0	0
THG1L	54974	broad.mit.edu	37	5	157159883	157159883	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:157159883G>A	ENST00000231198.7	+	2	443	c.199G>A	c.(199-201)Gag>Aag	p.E67K		NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	67					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity	p.E67K(1)		NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGGTTTGCTGAGAAGCACAA	0.473000													6	81					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62228840	62228840	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr15:62228840C>G	ENST00000261517.5	-	48	5784	c.5711G>C	c.(5710-5712)aGa>aCa	p.R1904T	VPS13C_ENST00000395896.4_Missense_Mutation_p.R1904T|VPS13C_ENST00000249837.3_Missense_Mutation_p.R1861T|VPS13C_ENST00000395898.3_Missense_Mutation_p.R1861T	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1904					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTTCTCACTCTTACAGTCTC	0.348000													8	48					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848014	166848014	+	Missense_Mutation	SNP	C	C	A	rs3749029		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:166848014C>A	ENST00000423058.2	-	26	5788	c.5771G>T	c.(5770-5772)cGt>cTt	p.R1924L	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R1913L|SCN1A_ENST00000409050.1_Missense_Mutation_p.R1896L|SCN1A_ENST00000303395.4_Missense_Mutation_p.R1924L	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1924						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTGTAAGCACGCTGAATAAT	0.388000													28	64					6.04164e-23	6.43854e-23	1	1	0
AFF3	3899	broad.mit.edu	37	2	100210557	100210557	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:100210557C>G	ENST00000409236.2	-	13	1678	c.1566G>C	c.(1564-1566)gaG>gaC	p.E522D	AFF3_ENST00000356421.2_Missense_Mutation_p.E547D|AFF3_ENST00000317233.4_Missense_Mutation_p.E522D|AFF3_ENST00000409579.1_Missense_Mutation_p.E547D			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGCTCTTGATCTCCTTCTCTC	0.602000													6	132					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282758	152282758	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:152282758G>C	ENST00000368799.1	-	3	4639	c.4604C>G	c.(4603-4605)tCa>tGa	p.S1535*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1535	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGGGTCCTGACTGCCCATG	0.567000									Ichthyosis				47	377					0	0	1	0	0
ACTN4	81	broad.mit.edu	37	19	39200089	39200089	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:39200089G>A	ENST00000252699.2	+	7	782	c.706G>A	c.(706-708)Gac>Aac	p.D236N	ACTN4_ENST00000390009.3_Intron|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	236	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)			GAAATACCTCGACATCCCCAA	0.557000													17	81					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54547217	54547217	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr18:54547217C>G	ENST00000254442.3	+	21	3558	c.3347C>G	c.(3346-3348)tCt>tGt	p.S1116C	WDR7_ENST00000357574.3_Missense_Mutation_p.S1083C|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1116										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		ATTTCTACATCTTACGAGGAA	0.358000													5	59					0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7240683	7240683	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr17:7240683G>C	ENST00000158762.3	+	2	312	c.106G>C	c.(106-108)Gaa>Caa	p.E36Q		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	36	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GACCCGTCTGGAAAAGGTGAC	0.557000													3	107					0	0	1	0	0
EIF2B2	8892	broad.mit.edu	37	14	75470268	75470268	+	Missense_Mutation	SNP	G	G	A	rs17849324		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:75470268G>A	ENST00000266126.5	+	3	379	c.299G>A	c.(298-300)aGc>aAc	p.S100N		NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	100				RLHGRSD -> DSMDAAT (in Ref. 2; AAC42002).	cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CATGGACGCAGCGACGAGAGT	0.527000													30	73					0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65310528	65310528	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:65310528G>A	ENST00000284037.5	+	7	897	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	ERBB2IP_ENST00000380939.2_Missense_Mutation_p.E170K|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.E170K|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.E170K|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.E170K|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.E170K|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.E170K|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.E170K|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.E170K|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.E170K	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	170					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	p.E170K(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGAGCTTAGAGAAAACCAGTT	0.209000													7	24					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122634684	122634684	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr3:122634684C>T	ENST00000195173.4	-	13	2045	c.1742G>A	c.(1741-1743)cGt>cAt	p.R581H	SEMA5B_ENST00000451055.2_Missense_Mutation_p.R635H|SEMA5B_ENST00000357599.3_Missense_Mutation_p.R581H			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	581					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGTGCTGCAACGTTGCTGCTT	0.622000													32	44					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34648553	34648553	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr15:34648553G>T	ENST00000537011.1	+	8	2726	c.2344G>T	c.(2344-2346)Gag>Tag	p.E782*	NUTM1_ENST00000438749.3_Nonsense_Mutation_p.E772*|NUTM1_ENST00000333756.4_Nonsense_Mutation_p.E754*	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1																		GTGTGTAACTGAGTATCAGGA	0.532000													7	79					0.00307968	0.00314429	1	1	0
FBLN1	2192	broad.mit.edu	37	22	45927195	45927195	+	Missense_Mutation	SNP	C	C	A	rs147266682		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr22:45927195C>A	ENST00000348697.2	+	5	682	c.535C>A	c.(535-537)Cgc>Agc	p.R179S	FBLN1_ENST00000340923.5_Missense_Mutation_p.R179S|FBLN1_ENST00000402984.3_Missense_Mutation_p.R217S|FBLN1_ENST00000442170.2_Missense_Mutation_p.R179S|FBLN1_ENST00000262722.7_Missense_Mutation_p.R179S|FBLN1_ENST00000327858.6_Missense_Mutation_p.R179S			P23142	FBLN1_HUMAN	fibulin 1	179	EGF-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCTGAATGACCGCTGCCGAGG	0.488000													29	43					9.80977e-26	1.05311e-25	1	1	0
WTAP	9589	broad.mit.edu	37	6	160174530	160174530	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:160174530T>C	ENST00000358372.4	+	7	2248	c.491T>C	c.(490-492)cTt>cCt	p.L164P	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	164					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		p.M163_L164delML(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TGTCGAATGCTTATCCAGGAG	0.438000													23	45					0	0	1	0	0
EVX1	2128	broad.mit.edu	37	7	27285709	27285709	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr7:27285709G>A	ENST00000496902.4	+	3	1375	c.889G>A	c.(889-891)Gcc>Acc	p.A297T	EVX1_ENST00000535619.1_Missense_Mutation_p.A115T|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_3'UTR			P49640	EVX1_HUMAN	even-skipped homeobox 1	297	Ala-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CTCCGCCGCCGCCTCGCCCTT	0.776000													4	15					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108628509	108628509	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chrX:108628509G>A	ENST00000218006.2	-	16	3250	c.2959C>T	c.(2959-2961)Ccg>Tcg	p.P987S		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	987	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCAACAACCGGCCCTATAGAG	0.473000													51	18					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32241198	32241198	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr22:32241198G>A	ENST00000400246.1	+	30	3138	c.2996G>A	c.(2995-2997)cGg>cAg	p.R999Q	DEPDC5_ENST00000382105.2_Missense_Mutation_p.R921Q|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R990Q|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R990Q|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R921Q|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R990Q|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R999Q|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R999Q			O75140	DEPD5_HUMAN	DEP domain containing 5	990					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATTCGCAGGCGGCATCGCTCG	0.607000													16	19					0	0	1	0	0
AFTPH	54812	broad.mit.edu	37	2	64778744	64778744	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:64778744G>C	ENST00000422803.1	+	2	450	c.136G>C	c.(136-138)Gat>Cat	p.D46H	AFTPH_ENST00000409933.1_Missense_Mutation_p.D46H|AFTPH_ENST00000238855.7_Missense_Mutation_p.D46H|AFTPH_ENST00000238856.4_Missense_Mutation_p.D46H			Q6ULP2	AFTIN_HUMAN	aftiphilin	46					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AGGGTTTGTTGATTTCGATAC	0.408000													99	132					0	0	1	0	0
RPL10	6134	broad.mit.edu	37	X	153627864	153627864	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chrX:153627864A>G	ENST00000424325.2	+	4	307	c.119A>G	c.(118-120)aAg>aGg	p.K40R	RPL10_ENST00000406022.2_5'UTR|RPL10_ENST00000369817.2_Missense_Mutation_p.K40R	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	40					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCGGAAAAAGGCAAAAGTG	0.522000											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	116					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148768420	148768420	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr7:148768420G>A	ENST00000316286.9	-	3	1458	c.1186C>T	c.(1186-1188)Cag>Tag	p.Q396*	ZNF786_ENST00000451334.3_Nonsense_Mutation_p.Q445*|ZNF786_ENST00000491431.1_Nonsense_Mutation_p.Q482*			Q8N393	ZN786_HUMAN	zinc finger protein 786	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCTGGGCACTGAAAGGGCTTC	0.652000													3	21					0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3147784	3147784	+	Splice_Site	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr11:3147784C>T	ENST00000263650.7	-	3	297	c.138G>A	c.(136-138)ggG>ggA	p.G46G	OSBPL5_ENST00000389989.3_Splice_Site_p.G46G|OSBPL5_ENST00000525498.1_5'UTR|OSBPL5_ENST00000542243.1_5'UTR|OSBPL5_ENST00000348039.5_Splice_Site_p.G46G	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	46					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCATGTCCTTCCCTGCAAGAG	0.667000													4	26					0	0	1	0	0
RAE1	8480	broad.mit.edu	37	20	55929795	55929795	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr20:55929795G>A	ENST00000395841.2	+	3	538	c.118G>A	c.(118-120)Gat>Aat	p.D40N	RAE1_ENST00000527947.1_Missense_Mutation_p.D40N|RAE1_ENST00000395840.2_Missense_Mutation_p.D40N|RAE1_ENST00000371242.2_Missense_Mutation_p.D40N	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	40					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			ATCTCCTGATGATAGCATTGG	0.398000													9	89					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151357947	151357947	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr4:151357947G>A	ENST00000535741.1	-	45	7323	c.6850C>T	c.(6850-6852)Caa>Taa	p.Q2284*	LRBA_ENST00000357115.3_Nonsense_Mutation_p.Q2295*|LRBA_ENST00000507224.1_Nonsense_Mutation_p.Q2284*|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Nonsense_Mutation_p.Q2284*			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2295	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTTGGAACTTGATCATCTTCC	0.393000													11	38					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81568654	81568654	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr12:81568654G>A	ENST00000548058.1	+	8	2096	c.1186G>A	c.(1186-1188)Gca>Aca	p.A396T	ACSS3_ENST00000548324.1_Missense_Mutation_p.A78T|ACSS3_ENST00000261206.3_Missense_Mutation_p.A395T			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	396						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AGCACCAACTGCAATTAGAGC	0.512000													14	46					0	0	1	0	0
FBXO28	23219	broad.mit.edu	37	1	224318184	224318184	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:224318184G>C	ENST00000366862.5	+	2	321	c.278G>C	c.(277-279)aGa>aCa	p.R93T	FBXO28_ENST00000424254.2_Missense_Mutation_p.R93T	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	93	F-box.							p.R93K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		GTTTGTAAAAGAATGGACTTG	0.373000													8	74					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21958155	21958155	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr12:21958155C>T	ENST00000261201.4	-	38	4602	c.4603G>A	c.(4603-4605)Gcc>Acc	p.A1535T	ABCC9_ENST00000261200.4_Intron|ABCC9_ENST00000345162.2_Missense_Mutation_p.A1499T	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1535	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTCTTGTGGGCGAGCAAATTT	0.438000													8	48					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37687082	37687082	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr17:37687082C>T	ENST00000447079.4	+	14	4019	c.3986C>T	c.(3985-3987)tCc>tTc	p.S1329F	CDK12_ENST00000430627.2_Missense_Mutation_p.S1320F	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1329					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ATGGAGTACTCCACCCGACCC	0.562000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			50	62					0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76343991	76343991	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr5:76343991G>C	ENST00000312916.7	+	7	1589	c.1207G>C	c.(1207-1209)Gac>Cac	p.D403H		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	403					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GGCAGATGAAGACAAAATTTG	0.343000													3	139					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41564853	41564853	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr22:41564853G>A	ENST00000263253.7	+	25	5373	c.4154G>A	c.(4153-4155)tGc>tAc	p.C1385Y		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1385					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.C1385F(3)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGCTCTGACTGCCCTCCACCC	0.473000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				23	143					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45854898	45854898	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr19:45854898G>C	ENST00000391945.4	-	23	2349	c.2272C>G	c.(2272-2274)Cag>Gag	p.Q758E	ERCC2_ENST00000391944.3_Missense_Mutation_p.Q680E	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	758					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CAGAGCTGCTGAGCAATCTGC	0.592000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				39	283					0	0	1	0	0
FIP1L1	81608	broad.mit.edu	37	4	54248502	54248502	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr4:54248502G>A	ENST00000507166.1	+	4	228	c.228G>A	c.(226-228)ccG>ccA	p.P76P	FIP1L1_ENST00000358575.5_Splice_Site_p.P61P|FIP1L1_ENST00000306932.6_Splice_Site_p.P61P|FIP1L1_ENST00000337488.6_Splice_Site_p.P76P|FIP1L1_ENST00000507922.1_Splice_Site_p.P61P|FIP1L1_ENST00000510668.1_3'UTR			Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	76	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with PAPOLA.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TACCAAAACCGGTAACATAAG	0.348000			T	PDGFRA	idiopathic hypereosinophilic syndrome								9	69					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	C	T	rs117285325	by1000genomes	TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr15:78290635C>T	ENST00000409931.3	-	13	2778	c.2707G>A	c.(2707-2709)Gac>Aac	p.D903N	TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	0						intracellular	protein binding|Rab GTPase activator activity	p.D903N(3)|p.R920Q(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGGCGCGTCGGTTCCGGAT	0.617000													3	19					0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160628465	160628465	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr2:160628465G>T	ENST00000504764.1	-	39	5546	c.5519C>A	c.(5518-5520)tCt>tAt	p.S1840Y	CD302_ENST00000259053.4_Missense_Mutation_p.S199Y|LY75_ENST00000553424.1_Missense_Mutation_p.S1784Y|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.S1784Y|CD302_ENST00000480212.1_5'UTR|LY75_ENST00000554112.1_Missense_Mutation_p.S1840Y|CD302_ENST00000429078.2_Missense_Mutation_p.S141Y	NM_001198759.1	NP_001185688.1	O60449	LY75_HUMAN		359					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										GGTGAAACGAGAATCAGAATG	0.368000													28	59					2.42023e-17	2.52546e-17	1	1	0
RYR2	6262	broad.mit.edu	37	1	237947659	237947659	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr1:237947659C>T	ENST00000366574.2	+	90	12964	c.12647C>T	c.(12646-12648)gCg>gTg	p.A4216V	RYR2_ENST00000360064.6_Missense_Mutation_p.A4222V|RYR2_ENST00000542537.1_Missense_Mutation_p.A4200V|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4216					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A4214V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGAGGTCAGCGAATAAGGAA	0.542000													25	40					0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1487828	1487828	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr19:1487828G>A	ENST00000300954.5	-	5	610	c.549C>T	c.(547-549)taC>taT	p.Y183Y	PCSK4_ENST00000587784.1_5'UTR	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	183	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCCGGGTCGTAGTCATTGA	0.692000													3	3					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53056856	53056856	+	Silent	SNP	A	A	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr19:53056856A>G	ENST00000359798.4	+	5	867	c.687A>G	c.(685-687)aaA>aaG	p.K229K		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGAGAGAAAAATCTTTCCCAT	0.373000													4	229					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34647806	34647806	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr15:34647806G>A	ENST00000537011.1	+	8	1979	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	NUTM1_ENST00000438749.3_Missense_Mutation_p.D523N|NUTM1_ENST00000333756.4_Missense_Mutation_p.D505N	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1																		TGAAGATGGGGATGGGCGGCT	0.582000													8	69					0	0	1	0	0
MXRA8	54587	broad.mit.edu	37	1	1290857	1290857	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr1:1290857C>A	ENST00000477278.2	-	3	835	c.322G>T	c.(322-324)Gac>Tac	p.D108Y	MXRA8_ENST00000309212.6_Missense_Mutation_p.D117Y|MXRA8_ENST00000445648.2_Missense_Mutation_p.D117Y|MXRA8_ENST00000342753.4_Intron	NM_001282583.1	NP_001269512.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8		Ig-like V-type 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AAGTTGCCGTCGTCGAAGGCC	0.786000													2	4					1	1	1	1	0
ZFYVE9	9372	broad.mit.edu	37	1	52740153	52740153	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr1:52740153C>G	ENST00000287727.3	+	8	2815	c.2643C>G	c.(2641-2643)ttC>ttG	p.F881L	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.F822L|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.F881L			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	881					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TTTGTCTATTCTCTGGGAGTA	0.398000													6	190					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580672	140580672	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr5:140580672C>G	ENST00000354757.3	+	1	1325	c.1325C>G	c.(1324-1326)tCt>tGt	p.S442C	PCDHB11_ENST00000536699.1_Missense_Mutation_p.S77C	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		442	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGTTGGTCTCTGACGTCAAT	0.572000													40	228					0	0	1	0	0
C15orf32	145858	broad.mit.edu	37	15	93015655	93015655	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr15:93015655G>C	ENST00000333334.2	+	1	772	c.277G>C	c.(277-279)Gat>Cat	p.D93H	C15orf32_ENST00000556865.1_Missense_Mutation_p.D93H	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	93										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			ctcacgagtggATGGTTTGAT	0.413000													12	63					0	0	1	0	0
CHPF2	54480	broad.mit.edu	37	7	150931207	150931207	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr7:150931207A>G	ENST00000035307.2	+	1	1623	c.110A>G	c.(109-111)gAg>gGg	p.E37G	CHPF2_ENST00000495645.1_Missense_Mutation_p.E29G	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	37						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						ATCCAGGGGGAGGGAGAAGAT	0.607000													3	133					0	0	1	0	0
UBTD1	80019	broad.mit.edu	37	10	99327844	99327844	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr10:99327844G>A	ENST00000370664.3	+	2	580	c.244G>A	c.(244-246)Gac>Aac	p.D82N		NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	82										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		TGAAGCCAACGACCACGAGCT	0.637000													34	76					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160808060	160808060	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr2:160808060C>G	ENST00000283243.7	-	24	3537	c.3331G>C	c.(3331-3333)Gat>Cat	p.D1111H	PLA2R1_ENST00000392771.1_Missense_Mutation_p.D1111H	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1111					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGATACATATCAGATGTATTT	0.363000													3	88					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	533276	533276	+	Splice_Site	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr11:533276C>G	ENST00000417302.1	-	5	720		c.e5+1		HRAS_ENST00000397596.2_Intron|HRAS_ENST00000397594.1_Splice_Site|HRAS_ENST00000451590.1_Intron|HRAS_ENST00000311189.7_Intron	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog						activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GGGAGACTTACAGCGCGAGGG	0.726000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			5	1					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91511157	91511157	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr10:91511157A>G	ENST00000416354.1	+	24	4313	c.4241A>G	c.(4240-4242)cAg>cGg	p.Q1414R	KIF20B_ENST00000371728.3_Missense_Mutation_p.Q1384R|KIF20B_ENST00000260753.4_Missense_Mutation_p.Q1344R|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.Q1384R			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1384					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CTAGAAGAACAGGAACAAACT	0.358000													27	223					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43400565	43400565	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr6:43400565C>T	ENST00000244533.3	+	1	1077	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	ABCC10_ENST00000372530.4_Missense_Mutation_p.R283W|ABCC10_ENST00000443426.2_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	283						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGCCTTTGGACGGTGCTATCT	0.627000													4	50					0	0	1	0	0
TBKBP1	9755	broad.mit.edu	37	17	45787901	45787901	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr17:45787901G>A	ENST00000361722.3	+	9	2606	c.1757G>A	c.(1756-1758)tGc>tAc	p.C586Y		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	586					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						ATCCGCAGCTGCCCCCTCTGC	0.602000													4	65					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104618365	104618365	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr14:104618365C>T	ENST00000423312.2	+	3	302	c.302C>T	c.(301-303)tCt>tTt	p.S101F	KIF26A_ENST00000315264.7_5'UTR	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	101					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTTGCCTCTCTGCCCTGCTT	0.672000													6	53					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167254660	167254660	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr3:167254660G>A	ENST00000308378.3	-	7	1201	c.896C>T	c.(895-897)aCg>aTg	p.T299M	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.T124M|WDR49_ENST00000453925.2_Missense_Mutation_p.T363M	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	299										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CAATTTACCCGTAACAAGAGT	0.373000													14	26					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr12:56478854G>A	ENST00000267101.3	+	3	750	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.V45M|ERBB3_ENST00000411731.2_Missense_Mutation_p.V104M	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	104			V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.V104M(7)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517000													63	106					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60318751	60318751	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr20:60318751C>T	ENST00000360469.5	+	3	390	c.302C>T	c.(301-303)aCg>aTg	p.T101M	CDH4_ENST00000543233.1_Missense_Mutation_p.T27M|RP11-429E11.2_ENST00000447909.1_RNA|RP11-429E11.2_ENST00000442888.1_RNA	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	101					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GTGGCGTTCACGGTGACTGCA	0.607000													5	12					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156131202	156131202	+	Silent	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr1:156131202C>G	ENST00000368285.3	+	9	1143	c.876C>G	c.(874-876)ctC>ctG	p.L292L	SEMA4A_ENST00000355014.2_Silent_p.L292L|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Silent_p.L160L|SEMA4A_ENST00000368282.1_Silent_p.L292L|SEMA4A_ENST00000368284.1_Silent_p.L160L	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	292	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCCAGCTGCTCTGCACCCAGC	0.667000													16	102					0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21800133	21800133	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr22:21800133A>G	ENST00000443632.2	+	2	1321	c.949A>G	c.(949-951)Agc>Ggc	p.S317G	HIC2_ENST00000407598.2_Missense_Mutation_p.S317G|HIC2_ENST00000407464.2_Missense_Mutation_p.S317G			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	317					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CAACCACCTGAGCCTGCTGGA	0.657000													7	20					0	0	1	0	0
SPTLC2	9517	broad.mit.edu	37	14	78023409	78023409	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr14:78023409G>A	ENST00000216484.2	-	7	1124	c.931C>T	c.(931-933)Ctc>Ttc	p.L311F		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	311						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ACAAGGATGAGAATTTTCTTC	0.393000													4	59					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10981933	10981933	+	Silent	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr5:10981933C>T	ENST00000304623.8	-	21	3558	c.3369G>A	c.(3367-3369)ttG>ttA	p.L1123L	CTNND2_ENST00000511377.1_Silent_p.L1032L|CTNND2_ENST00000458100.2_Silent_p.L690L|CTNND2_ENST00000503622.1_Silent_p.L786L|CTNND2_ENST00000359640.2_Silent_p.L1065L|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1123					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AATTCCTATACAAAGTTGAAA	0.343000													10	125					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32543241	32543241	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr9:32543241A>C	ENST00000360538.2	-	3	1398	c.1282T>G	c.(1282-1284)Tca>Gca	p.S428A	TOPORS_ENST00000379858.1_Missense_Mutation_p.S363A	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	428					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ACCTGCTCTGAGCTTGAGTAA	0.453000													77	27					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	534288	534288	+	Missense_Mutation	SNP	C	C	T	rs104894230		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr11:534288C>T	ENST00000417302.1	-	2	222	c.35G>A	c.(34-36)gGc>gAc	p.G12D	HRAS_ENST00000397596.2_Missense_Mutation_p.G12D|HRAS_ENST00000397594.1_Missense_Mutation_p.G12D|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.G12D|HRAS_ENST00000311189.7_Missense_Mutation_p.G12D	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12V(252)|p.G12D(48)|p.G12A(9)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GCCCACACCGCCGGCGCCCAC	0.647000	G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			39	13					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55658785	55658785	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr11:55658785C>T	ENST00000449290.2	+	7	1128	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y	TRIM51_ENST00000244891.3_Missense_Mutation_p.H203Y	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	346	B30.2/SPRY.					intracellular	zinc ion binding										TTGGGAGGTTCATATGGGGGA	0.428000													12	96					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284277	223284277	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr1:223284277G>T	ENST00000540964.1	-	4	2558	c.2097C>A	c.(2095-2097)ttC>ttA	p.F699L	TLR5_ENST00000342210.6_Missense_Mutation_p.F699L			O60602	TLR5_HUMAN	toll-like receptor 5	699	TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CTTTGCTGCTGAAGCACAAAT	0.438000													4	90					0.000602214	0.000615027	1	1	0
PEX12	5193	broad.mit.edu	37	17	33903110	33903110	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr17:33903110G>A	ENST00000225873.4	-	3	1378	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	257					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGAACTGCAAGAAGAATACAC	0.468000													37	68					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32563175	32563175	+	Silent	SNP	A	A	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr14:32563175A>G	ENST00000345122.3	+	2	3615	c.3300A>G	c.(3298-3300)aaA>aaG	p.K1100K	ARHGAP5_ENST00000432921.1_Silent_p.K1100K|ARHGAP5_ENST00000539826.2_Silent_p.K1100K|ARHGAP5_ENST00000556611.1_Silent_p.K1100K|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1100					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CAATTTTCAAACAGAAGGGCT	0.383000													30	57					0	0	1	0	0
CRLF3	51379	broad.mit.edu	37	17	29119551	29119551	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr17:29119551C>T	ENST00000324238.6	-	6	990	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	CRLF3_ENST00000577725.1_Intron|CTD-2349P21.9_ENST00000580085.1_lincRNA|CRLF3_ENST00000544695.1_Missense_Mutation_p.R173Q	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	289					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TATATTTCTTCGACTGCTCAG	0.418000													41	141					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102334549	102334549	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chrX:102334549G>C	ENST00000395065.3	-	14	1283	c.1182C>G	c.(1180-1182)ttC>ttG	p.F394L	NXF3_ENST00000425644.1_Missense_Mutation_p.F66L	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	394	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGCTATCCTTGAAGAACTTGC	0.507000													17	89					0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793941	17793941	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr11:17793941G>A	ENST00000379472.3	+	2	1330	c.1300G>A	c.(1300-1302)Gtc>Atc	p.V434I	KCNC1_ENST00000265969.6_Missense_Mutation_p.V434I	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	434						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GCCCGTGCCCGTCATCGTGAA	0.577000													15	86					0	0	1	0	0
C6orf211	79624	broad.mit.edu	37	6	151779478	151779478	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr6:151779478G>A	ENST00000367294.3	+	3	422	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	C6orf211_ENST00000545879.1_5'UTR|C6orf211_ENST00000483931.1_3'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	55							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		CGTGGAAGCTGAAAAGAAAGC	0.348000													16	155					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19491418	19491418	+	Silent	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr1:19491418C>T	ENST00000375267.2	-	32	4389	c.4386G>A	c.(4384-4386)gtG>gtA	p.V1462V	UBR4_ENST00000375217.2_Silent_p.V1462V|UBR4_ENST00000375226.2_Silent_p.V1462V|UBR4_ENST00000375254.3_Silent_p.V1462V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1462					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCTGCAGGCGCACAGGTTCCA	0.577000													11	59					0	0	1	0	0
SCAMP4	113178	broad.mit.edu	37	19	1924163	1924163	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr19:1924163G>C	ENST00000316097.8	+	7	837	c.570G>C	c.(568-570)tgG>tgC	p.W190C	SCAMP4_ENST00000409472.1_Missense_Mutation_p.W156C	NM_079834.2	NP_524558.1	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	190					protein transport	integral to membrane							Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACGGAGTGGAACACGGGCA	0.612000													4	26					0	0	1	0	0
MRPL3	11222	broad.mit.edu	37	3	131220433	131220433	+	Silent	SNP	T	T	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr3:131220433T>C	ENST00000264995.3	-	2	366	c.219A>G	c.(217-219)ttA>ttG	p.L73L	MRPL3_ENST00000425847.2_Silent_p.L100L	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	73					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GTTTACTTGCTAATTGGGCTT	0.398000													96	184					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	485324	485324	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr5:485324G>A	ENST00000264938.3	-	4	707	c.698C>T	c.(697-699)tCt>tTt	p.S233F	SLC9A3_ENST00000514375.1_Missense_Mutation_p.S233F	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	233						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGCCACGAAAGATTCAAACAC	0.632000													26	74					0	0	1	0	0
FIP1L1	81608	broad.mit.edu	37	4	54257217	54257217	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr4:54257217G>C	ENST00000507166.1	+	8	547	c.547G>C	c.(547-549)Gat>Cat	p.D183H	FIP1L1_ENST00000358575.5_Missense_Mutation_p.D168H|FIP1L1_ENST00000306932.6_Missense_Mutation_p.D168H|FIP1L1_ENST00000337488.6_Missense_Mutation_p.D183H|FIP1L1_ENST00000507922.1_Missense_Mutation_p.D168H			Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	183	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GTTTAATGAAGATACCTGGAA	0.303000			T	PDGFRA	idiopathic hypereosinophilic syndrome								4	58					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30672587	30672587	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr6:30672587G>C	ENST00000376406.3	-	10	5020	c.4373C>G	c.(4372-4374)tCc>tGc	p.S1458C	MDC1_ENST00000376405.2_Missense_Mutation_p.S1194C|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1458	Interaction with the PRKDC complex.|Pro-rich.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	p.S1458Y(1)		breast(2)|kidney(1)|ovary(1)	4						TGTGGAGGTGGAAGGCTGGAG	0.567000								Other conserved DNA damage response genes					41	149					0	0	1	0	0
C15orf37	283687	broad.mit.edu	37	15	80215314	80215314	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr15:80215314G>A	ENST00000560255.1	+	1	202	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	ST20-MTHFS_ENST00000479961.1_Intron|ST20_ENST00000485386.1_Intron|ST20-MTHFS_ENST00000494999.1_Intron					chromosome 15 open reading frame 37											kidney(1)|lung(1)|stomach(1)	3						TGCAAGCCTCGAACCCCCAAC	0.617000													8	55					0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770826	53770826	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr19:53770826G>A	ENST00000311170.4	-	1	146	c.93C>T	c.(91-93)tcC>tcT	p.S31S		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	31					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		TGCAGTAAAAGGAGAGATAAT	0.507000										HNSCC(26;0.072)			6	78					0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17422584	17422584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr8:17422584C>T	ENST00000470360.1	+	14	2140	c.2023C>T	c.(2023-2025)Caa>Taa	p.Q675*	SLC7A2_ENST00000004531.10_Nonsense_Mutation_p.Q676*|SLC7A2_ENST00000494857.1_Nonsense_Mutation_p.Q636*|SLC7A2_ENST00000522656.1_Nonsense_Mutation_p.Q636*|SLC7A2_ENST00000398090.3_Nonsense_Mutation_p.Q675*			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	636					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ATCTGCCATTCAAGCAAATGA	0.428000													7	28					0	0	1	0	0
LYSMD1	388695	broad.mit.edu	37	1	151134376	151134376	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr1:151134376C>G	ENST00000368908.5	-	2	1041	c.381G>C	c.(379-381)gaG>gaC	p.E127D	LYSMD1_ENST00000440902.2_Missense_Mutation_p.E79D	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	127					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	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;0.211)			CTGCTCCTGTCTCTTGTTTCT	0.507000													10	70					0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11105485	11105485	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr1:11105485C>T	ENST00000400897.3	-	4	539	c.524G>A	c.(523-525)cGt>cAt	p.R175H	MASP2_ENST00000400898.3_Missense_Mutation_p.R175H	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	175	EGF-like; calcium-binding.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GCGCTTGTTACGGTGCAGGAC	0.687000													29	47					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214244	140214244	+	Silent	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr5:140214244C>G	ENST00000525929.1	+	1	276	c.276C>G	c.(274-276)cgC>cgG	p.R92R	PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.R92R|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCGACCGCGAGGAGCTGT	0.587000													83	570					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39801075	39801075	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr1:39801075C>G	ENST00000564288.1	+	37	9592	c.8815C>G	c.(8815-8817)Caa>Gaa	p.Q2939E	MACF1_ENST00000372915.3_Missense_Mutation_p.Q2944E|MACF1_ENST00000567887.1_Missense_Mutation_p.Q2976E|MACF1_ENST00000289893.4_Missense_Mutation_p.Q1379E|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2944					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.Q1379E(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGAGAAAATCAAGGGGAAGT	0.378000													8	81					0	0	1	0	0
UROS	7390	broad.mit.edu	37	10	127483469	127483469	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr10:127483469C>T	ENST00000368797.4	-	9	864	c.640G>A	c.(640-642)Gac>Aac	p.D214N	UROS_ENST00000368786.1_Missense_Mutation_p.D214N|UROS_ENST00000462490.1_5'UTR	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	214					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				TCGATATTGTCACCAGATAAC	0.373000													8	82					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70012016	70012016	+	RNA	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr16:70012016C>T	ENST00000531894.1	-	0	2519				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1																						AGGGGGTGATCTGAAAAAGCC	0.468000													47	293					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39869784	39869784	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr6:39869784G>A	ENST00000538976.1	+	25	3357	c.3175G>A	c.(3175-3177)Gag>Aag	p.E1059K	DAAM2_ENST00000398904.2_Missense_Mutation_p.E1060K|DAAM2_ENST00000274867.4_Missense_Mutation_p.E1060K	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	1060					actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGTTACCCGGGAGCGGGCAAT	0.612000													12	32					0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121551496	121551496	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr10:121551496C>T	ENST00000361976.2	+	5	726	c.560C>T	c.(559-561)tCc>tTc	p.S187F	INPP5F_ENST00000369081.1_Missense_Mutation_p.S91F|INPP5F_ENST00000369083.3_Missense_Mutation_p.S187F	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	187	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTGACCAATTCCGTGCAGAGG	0.507000													27	179					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23699264	23699264	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr12:23699264C>G	ENST00000546136.1	-	11	1546	c.1544G>C	c.(1543-1545)aGt>aCt	p.S515T	SOX5_ENST00000541536.1_Missense_Mutation_p.S407T|SOX5_ENST00000396007.2_Missense_Mutation_p.S142T|SOX5_ENST00000309359.1_Missense_Mutation_p.S515T|SOX5_ENST00000451604.2_Missense_Mutation_p.S528T|SOX5_ENST00000537393.1_Missense_Mutation_p.S493T|SOX5_ENST00000545921.1_Missense_Mutation_p.S518T|SOX5_ENST00000381381.2_Missense_Mutation_p.S407T			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	528					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						AGAATCTCCACTCAGATTGAA	0.343000													7	109					0	0	1	0	0
IP6K3	117283	broad.mit.edu	37	6	33694647	33694647	+	Silent	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr6:33694647G>C	ENST00000451316.1	-	5	985	c.450C>G	c.(448-450)ctC>ctG	p.L150L	IP6K3_ENST00000293756.4_Silent_p.L150L	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	150					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						CTGGAGTGTTGAGGTGGGGCT	0.647000													6	129					0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94163033	94163033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr7:94163033C>T	ENST00000297273.4	+	7	834	c.547C>T	c.(547-549)Caa>Taa	p.Q183*		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	183						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AGCGCTTTCTCAATATAAAAT	0.318000													14	55					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115220970	115220970	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr1:115220970G>C	ENST00000369538.3	-	7	1210	c.1163C>G	c.(1162-1164)tCt>tGt	p.S388C	AMPD1_ENST00000520113.2_Missense_Mutation_p.S392C|AMPD1_ENST00000353928.6_Missense_Mutation_p.S359C	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	359			R -> W (in AMPDDM; loss of activity; dbSNP:rs35859650).		purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AACATCCAGAGAATCAACAGT	0.428000													19	150					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	34001199	34001199	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr17:34001199G>C	ENST00000262325.7	+	16	2694	c.2141G>C	c.(2140-2142)tGg>tCg	p.W714S	AP2B1_ENST00000592545.1_Missense_Mutation_p.W690S|AP2B1_ENST00000589344.1_Missense_Mutation_p.W728S|AP2B1_ENST00000312678.8_Missense_Mutation_p.W728S|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000538556.1_Missense_Mutation_p.W657S|AP2B1_ENST00000537622.2_Missense_Mutation_p.W728S	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	714	Pro-rich (stalk region).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TTTCAGGTCTGGCTACCTGCA	0.353000													17	146					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48699002	48699002	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr3:48699002C>G	ENST00000544264.1	-	1	1346	c.1066G>C	c.(1066-1068)Gag>Cag	p.E356Q	CELSR3_ENST00000164024.4_Missense_Mutation_p.E356Q			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	356	Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCCCGGCCTCGCCGGCGTCC	0.672000													12	51					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48699087	48699087	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr17:48699087C>G	ENST00000354983.4	+	33	6262	c.5890C>G	c.(5890-5892)Cta>Gta	p.L1964V	CACNA1G_ENST00000502264.1_Missense_Mutation_p.L1927V|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.L1987V|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000359106.5_Missense_Mutation_p.L1998V|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000510366.1_Intron	NM_198396.2	NP_938406.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1998					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTCCTGCTCTCTAGCTCTGAC	0.522000													6	54					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233710441	233710441	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr2:233710441G>A	ENST00000373566.3	+	27	3568		c.e27-1		GIGYF2_ENST00000373563.4_Splice_Site|GIGYF2_ENST00000409451.3_Splice_Site|GIGYF2_ENST00000409547.1_Splice_Site|GIGYF2_ENST00000409196.3_Splice_Site|GIGYF2_ENST00000409480.1_Splice_Site			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2						cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTTTGCTTTAGTAAATCTGTA	0.353000													16	44					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198265573	198265573	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr2:198265573C>T	ENST00000335508.6	-	18	2675	c.2584G>A	c.(2584-2586)Gaa>Aaa	p.E862K		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.E862K(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTGTACTGTTCGGCTTCATCT	0.373000			Mis		myelodysplastic syndrome								13	82					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48414152	48414152	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr10:48414152G>A	ENST00000249598.1	-	2	875	c.716C>T	c.(715-717)aCg>aTg	p.T239M		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	239					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GATGTCCAGCGTGTCGCAGCC	0.582000													24	36					0	0	1	0	0
SPTLC2	9517	broad.mit.edu	37	14	78023407	78023407	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr14:78023407G>A	ENST00000216484.2	-	7	1126	c.933C>T	c.(931-933)ctC>ctT	p.L311L		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	311						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCACAAGGATGAGAATTTTCT	0.393000													5	60					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16008382	16008382	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr19:16008382C>G	ENST00000221700.6	-	2	135	c.40G>C	c.(40-42)Gtg>Ctg	p.V14L	CYP4F2_ENST00000011989.7_5'UTR	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GATGCTGCCACTGGCCAGAGG	0.672000													11	46					0	0	1	0	0
CXCL11	6373	broad.mit.edu	37	4	76956259	76956259	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr4:76956259C>G	ENST00000306621.3	-	3	411	c.202G>C	c.(202-204)Gaa>Caa	p.E68Q	ART3_ENST00000341029.5_Intron|CXCL11_ENST00000503860.1_Missense_Mutation_p.E68Q	NM_005409.4	NP_005400.1	O14625	CXL11_HUMAN	chemokine (C-X-C motif) ligand 11	68					cell-cell signaling|chemotaxis|inflammatory response|signal transduction	extracellular space	chemokine activity			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCTTTATTTTCTTTCAGGGTA	0.333000													11	73					0	0	1	0	0
DDX51	317781	broad.mit.edu	37	12	132624237	132624237	+	Silent	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr12:132624237C>T	ENST00000397333.3	-	14	1955	c.1917G>A	c.(1915-1917)ctG>ctA	p.L639L		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	639	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CCAGCGGCTGCAGCAGCTTGC	0.612000													3	30					0	0	1	0	0
STARD7-AS1	285033	broad.mit.edu	37	2	96906235	96906235	+	RNA	SNP	T	T	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr2:96906235T>A	ENST00000446816.1	+	0	618																											TCAACTCTTCTCAGGACCAGA	0.537000													5	88					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36766906	36766906	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr8:36766906G>A	ENST00000399881.3	+	21	2221	c.2184G>A	c.(2182-2184)ccG>ccA	p.P728P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	728	Segment S9.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.P728P(5)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACTCAGCCCCGATGGGGCTTC	0.468000													12	286					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7456742	7456742	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr3:7456742G>A	ENST00000486284.1	+	5	1340	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	GRM7_ENST00000389336.4_Missense_Mutation_p.E356K|GRM7_ENST00000357716.4_Missense_Mutation_p.E356K|GRM7_ENST00000403881.1_Missense_Mutation_p.E356K|GRM7_ENST00000402647.2_Missense_Mutation_p.E356K	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	356					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CCGTACACTTGAAAACAACAG	0.403000													12	31					0	0	1	0	0
AGPAT3	56894	broad.mit.edu	37	21	45401024	45401024	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr21:45401024G>A	ENST00000398063.2	+	8	1490	c.998G>A	c.(997-999)gGa>gAa	p.G333E	AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000291572.8_Missense_Mutation_p.G333E|AGPAT3_ENST00000327505.2_Missense_Mutation_p.G333E|AGPAT3_ENST00000398061.1_Missense_Mutation_p.G333E|AGPAT3_ENST00000398058.1_Missense_Mutation_p.G333E|AGPAT3_ENST00000546158.1_Missense_Mutation_p.G333E	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	333					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TTTGCCAGCGGATCACCTCTC	0.572000													13	96					0	0	1	0	0
FBXO27	126433	broad.mit.edu	37	19	39516171	39516171	+	Missense_Mutation	SNP	G	G	C	rs151102214		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr19:39516171G>C	ENST00000292853.4	-	6	851	c.732C>G	c.(730-732)atC>atG	p.I244M	FBXO27_ENST00000600828.1_Missense_Mutation_p.I243M|FBXO27_ENST00000509137.2_Missense_Mutation_p.I244M	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	244	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CGCCCATCTTGATGTTGGAGA	0.587000													3	52					0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23244697	23244697	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr14:23244697T>C	ENST00000397532.3	-	7	1576	c.1051A>G	c.(1051-1053)Atc>Gtc	p.I351V	SLC7A7_ENST00000555702.1_Missense_Mutation_p.I351V|SLC7A7_ENST00000285850.7_Missense_Mutation_p.I351V|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397528.4_Missense_Mutation_p.I351V|SLC7A7_ENST00000397529.2_Missense_Mutation_p.I351V|SLC7A7_ENST00000554517.1_Missense_Mutation_p.I85V			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	351					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TCAACATGGATCATGCAGATG	0.473000													20	107					0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41285143	41285143	+	Splice_Site	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr1:41285143C>T	ENST00000347132.5	+	5	915	c.833C>T	c.(832-834)aCg>aTg	p.T278M	KCNQ4_ENST00000509682.2_Splice_Site_p.T278M|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	278					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TGGTGGGGGACGGTGCGTGAG	0.627000													9	149					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564215	176564215	+	Missense_Mutation	SNP	C	C	T	rs116090626	by1000genomes	TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr1:176564215C>T	ENST00000367662.3	+	3	2639	c.1475C>T	c.(1474-1476)tCg>tTg	p.S492L	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S492L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	492	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAGATTCTGTCGCCTTTGCAG	0.522000													21	35					0	0	1	0	0
TMEM260	54916	broad.mit.edu	37	14	57085350	57085350	+	Silent	SNP	C	C	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr14:57085350C>A	ENST00000261556.6	+	10	1217	c.1095C>A	c.(1093-1095)gcC>gcA	p.A365A	TMEM260_ENST00000538838.1_Silent_p.A365A|TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000536419.1_5'UTR	NM_017799.3	NP_060269.3			transmembrane protein 260																		CAGTAGTGGCCGTCCTCGCTG	0.488000													3	105					1	1	1	1	0
COL27A1	85301	broad.mit.edu	37	9	117002529	117002529	+	Silent	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr9:117002529C>T	ENST00000356083.3	+	20	3148	c.2757C>T	c.(2755-2757)ggC>ggT	p.G919G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	919	Collagen-like 5.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCCCCCTGGCGACAATGGCC	0.642000													65	24					0	0	1	0	0
SRD5A1	6715	broad.mit.edu	37	5	6656219	6656219	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr5:6656219G>T	ENST00000274192.5	+	3	723	c.489G>T	c.(487-489)ttG>ttT	p.L163F	SRD5A1_ENST00000538824.1_Missense_Mutation_p.L116F|SRD5A1_ENST00000537411.1_3'UTR	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	163					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity	p.L163L(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	CGGGCATGTTGATAAACATCC	0.388000													16	30					1.10513e-12	1.14489e-12	1	1	0
TEAD1	7003	broad.mit.edu	37	11	12946588	12946588	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr11:12946588G>C	ENST00000361905.4	+	11	1623	c.958G>C	c.(958-960)Gaa>Caa	p.E320Q	TEAD1_ENST00000334310.6_Missense_Mutation_p.E266Q|TEAD1_ENST00000527636.1_Missense_Mutation_p.E335Q|TEAD1_ENST00000361985.2_Missense_Mutation_p.E335Q|TEAD1_ENST00000526600.1_Missense_Mutation_p.E239Q|TEAD1_ENST00000527575.1_Missense_Mutation_p.E277Q	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	335	Ser/Thr/Tyr-rich.|Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCAAGTAGTAGAAAAAGTAGA	0.433000													3	59					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62614061	62614061	+	Splice_Site	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr1:62614061G>C	ENST00000371158.2	+	42	5491	c.5377G>C	c.(5377-5379)Gag>Cag	p.E1793Q		NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1793					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGAAGACACAGAGTGAGTATT	0.478000													35	95					0	0	1	0	0
FAM212B	55924	broad.mit.edu	37	1	112269624	112269624	+	Missense_Mutation	SNP	G	G	A	rs112881255		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr1:112269624G>A	ENST00000357260.5	-	2	1041	c.860C>T	c.(859-861)tCa>tTa	p.S287L	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Missense_Mutation_p.S272L	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	287										cervix(1)|endometrium(1)	2						ATCAAATCCTGAGGGTGAGTG	0.597000													34	310					0	0	1	0	0
UQCRC2	7385	broad.mit.edu	37	16	21968590	21968590	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr16:21968590A>C	ENST00000268379.4	+	2	832	c.68A>C	c.(67-69)aAa>aCa	p.K23T	UQCRC2_ENST00000561553.1_Missense_Mutation_p.K23T	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	23					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CCCAAAGTTAAAGCCACAGCT	0.448000													26	33					0	0	1	0	0
TRIM35	23087	broad.mit.edu	37	8	27145409	27145409	+	Silent	SNP	G	G	A	rs143436239		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr8:27145409G>A	ENST00000305364.4	-	6	1223	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	380	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GGCCCTCAGCGCCCGAGTCCT	0.692000													14	27					0	0	1	0	0
PPP3CB	5532	broad.mit.edu	37	10	75214224	75214224	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr10:75214224G>C	ENST00000360663.5	-	10	1243	c.1132C>G	c.(1132-1134)Ctg>Gtg	p.L378V	PPP3CB_ENST00000544628.1_Missense_Mutation_p.L6V|PPP3CB_ENST00000394829.2_Missense_Mutation_p.L378V|PPP3CB_ENST00000394822.2_Missense_Mutation_p.L396V|PPP3CB_ENST00000545874.1_Missense_Mutation_p.L292V|PPP3CB_ENST00000342558.3_Missense_Mutation_p.L378V|PPP3CB_ENST00000394828.2_Missense_Mutation_p.L378V			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	378										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					CAAATACTCAGAACATTTACC	0.303000													10	110					0	0	1	0	0
TNNI3K	51086	broad.mit.edu	37	1	74954930	74954930	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr1:74954930G>A	ENST00000370891.2	+	24	2498	c.2482G>A	c.(2482-2484)Gag>Aag	p.E828K	TNNI3K_ENST00000326637.3_Missense_Mutation_p.E727K|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.E841K|LRRC53_ENST00000294635.4_Intron	NM_001112808.2	NP_001106279.2			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						CTGCAACATTGAGGTAAAAGC	0.373000													6	63					0	0	1	0	0
FANCB	2187	broad.mit.edu	37	X	14882865	14882865	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chrX:14882865G>A	ENST00000398334.1	-	3	1035	c.768C>T	c.(766-768)ctC>ctT	p.L256L	FANCB_ENST00000324138.3_Silent_p.L256L	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	256					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TAAGGGCAATGAGAGATATTC	0.373000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	50					0	0	1	0	0
SCAMP5	192683	broad.mit.edu	37	15	75310744	75310744	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr15:75310744G>A	ENST00000562212.1	+	6	563	c.405G>A	c.(403-405)ctG>ctA	p.L135L	SCAMP5_ENST00000361900.6_Intron|SCAMP5_ENST00000568081.1_Intron|SCAMP5_ENST00000425597.3_Intron|SCAMP5_ENST00000545456.1_Intron			Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	132					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						GCCCCACACTGGCCTCTTCCT	0.577000													58	88					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140228356	140228356	+	Silent	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr5:140228356C>G	ENST00000378122.3	+	1	1000	c.276C>G	c.(274-276)cgC>cgG	p.R92R	PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.R92R|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCGACCGCGAGGAGCTGT	0.587000													46	19					0	0	1	0	0
CMIP	80790	broad.mit.edu	37	16	81712168	81712168	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr16:81712168G>A	ENST00000537098.3	+	10	1395	c.1323G>A	c.(1321-1323)atG>atA	p.M441I	CMIP_ENST00000398040.4_Missense_Mutation_p.M288I|CMIP_ENST00000539778.2_Missense_Mutation_p.M347I|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	407						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						GCAGCACCATGAGCATCGAGC	0.711000													13	17					0	0	1	0	0
ARF6	382	broad.mit.edu	37	14	50360895	50360895	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr14:50360895G>A	ENST00000298316.5	+	2	988	c.441G>A	c.(439-441)agG>agA	p.R147R		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	147					cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport	cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle	GTP binding|GTPase activity|thioesterase binding			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					TTCGGGACAGGAACTGGTATG	0.542000													6	44					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6188917	6188917	+	Silent	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr1:6188917G>C	ENST00000262450.3	-	23	3699	c.3600C>G	c.(3598-3600)ctC>ctG	p.L1200L	CHD5_ENST00000378021.1_Silent_p.L57L	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1200					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGTCCTTGAAGAGTTCCTCCG	0.667000													6	69					0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46684211	46684211	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr6:46684211G>T	ENST00000274793.7	-	4	482	c.286C>A	c.(286-288)Ctt>Att	p.L96I	PLA2G7_ENST00000537365.1_Missense_Mutation_p.L96I|PLA2G7_ENST00000541026.1_Intron|PLA2G7_ENST00000538237.1_Missense_Mutation_p.L51I	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	96					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			GGGATCCAAAGGGTGTCAAGG	0.373000													7	73					2.74318e-10	2.82156e-10	1	1	0
XRCC6	2547	broad.mit.edu	37	22	42042976	42042976	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr22:42042976C>T	ENST00000359308.4	+	6	1505	c.850C>T	c.(850-852)Cct>Tct	p.P284S	XRCC6_ENST00000402580.3_Missense_Mutation_p.P243S|XRCC6_ENST00000360079.3_Missense_Mutation_p.P284S|XRCC6_ENST00000428575.2_Missense_Mutation_p.P151S|XRCC6_ENST00000405506.1_Missense_Mutation_p.P234S|XRCC6_ENST00000405878.1_Missense_Mutation_p.P284S			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	284	Ku.				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						TCTCAAGCCTCCTCCAATAAA	0.433000								Non-homologous end-joining					25	217					0	0	1	0	0
SERPINH1	871	broad.mit.edu	37	11	75277927	75277927	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr11:75277927C>T	ENST00000524558.1	+	2	1968	c.533C>T	c.(532-534)gCg>gTg	p.A178V	SERPINH1_ENST00000530284.1_Missense_Mutation_p.A178V|SERPINH1_ENST00000358171.3_Missense_Mutation_p.A178V|SERPINH1_ENST00000533603.1_Missense_Mutation_p.A178V			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	178					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GAGTGGGCCGCGCAGACCACC	0.637000													9	60					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63175164	63175164	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr14:63175164G>A	ENST00000322893.7	-	11	2297	c.2029C>T	c.(2029-2031)Cgt>Tgt	p.R677C	KCNH5_ENST00000420622.2_Missense_Mutation_p.S611L	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	677					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.R677C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTGATCTTACGAAAGATGATC	0.458000													3	62					0	0	1	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158562	26158562	+	Missense_Mutation	SNP	C	C	G	rs141600148	byFrequency	TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr6:26158562C>G	ENST00000289316.2	+	1	189	c.165C>G	c.(163-165)atC>atG	p.I55M	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.I55M	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	55					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						ACACCGGCATCTCTTCCAAGG	0.562000													30	245					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199958	71199958	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr14:71199958C>T	ENST00000554752.2	-	11	2127	c.2128G>A	c.(2128-2130)Gat>Aat	p.D710N	MAP3K9_ENST00000554146.1_Missense_Mutation_p.D438N|MAP3K9_ENST00000381250.4_Missense_Mutation_p.D687N|MAP3K9_ENST00000553414.1_Missense_Mutation_p.D443N|MAP3K9_ENST00000555993.2_Missense_Mutation_p.D724N	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	710					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAGGGGCCATCGCCATCCTCT	0.617000													6	75					0	0	1	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86173471	86173471	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr1:86173471T>C	ENST00000431532.2	-	2	528	c.380A>G	c.(379-381)aAg>aGg	p.K127R	ZNHIT6_ENST00000370574.3_Missense_Mutation_p.K166R	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	166	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ACCAACAAACTTCTCCTCCTG	0.408000													29	237					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118485340	118485340	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr5:118485340C>T	ENST00000311085.8	+	18	3898	c.3818C>T	c.(3817-3819)tCt>tTt	p.S1273F	DMXL1_ENST00000539542.1_Missense_Mutation_p.S1273F	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1273										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AACTCCAGTTCTGGGTTACAT	0.403000													7	69					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103185777	103185777	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr7:103185777C>G	ENST00000428762.1	-	42	6476	c.6317G>C	c.(6316-6318)aGa>aCa	p.R2106T	RELN_ENST00000343529.5_Missense_Mutation_p.R2106T|RELN_ENST00000424685.2_Missense_Mutation_p.R2106T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2106					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGGTACCATCTGAAACGGAC	0.453000													12	42					0	0	1	0	0
DKK3	27122	broad.mit.edu	37	11	12030017	12030017	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr11:12030017A>T	ENST00000396505.2	-	2	351	c.113T>A	c.(112-114)cTc>cAc	p.L38H	DKK3_ENST00000450094.2_Missense_Mutation_p.L38H|DKK3_ENST00000525493.1_Missense_Mutation_p.L38H|DKK3_ENST00000326932.4_Missense_Mutation_p.L38H|DKK3_ENST00000527132.1_5'UTR	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	38	O-glycosylated at one site.				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		CGGGTAGCTGAGAGCCGGGCC	0.701000													30	5					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65403111	65403111	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr11:65403111C>T	ENST00000355703.3	+	32	5835	c.5296C>T	c.(5296-5298)Cgc>Tgc	p.R1766C		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1766						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCAGGCGCTTCGCAACATGAT	0.677000													8	21					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108628509	108628509	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chrX:108628509G>A	ENST00000218006.2	-	16	3250	c.2959C>T	c.(2959-2961)Ccg>Tcg	p.P987S		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	987	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCAACAACCGGCCCTATAGAG	0.473000													51	18					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24521611	24521611	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr2:24521611G>C	ENST00000355123.4	-	13	1860	c.1417C>G	c.(1417-1419)Caa>Gaa	p.Q473E	ITSN2_ENST00000361999.3_Missense_Mutation_p.Q473E|ITSN2_ENST00000406921.3_Missense_Mutation_p.Q473E	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	473					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTATTCTTTTGATTGAGAAGC	0.368000													11	101					0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3147784	3147784	+	Splice_Site	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr11:3147784C>T	ENST00000263650.7	-	3	297	c.138G>A	c.(136-138)ggG>ggA	p.G46G	OSBPL5_ENST00000348039.5_Splice_Site_p.G46G|OSBPL5_ENST00000389989.3_Splice_Site_p.G46G|OSBPL5_ENST00000525498.1_5'UTR|OSBPL5_ENST00000542243.1_5'UTR	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	46					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCATGTCCTTCCCTGCAAGAG	0.667000													4	26					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62228840	62228840	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr15:62228840C>G	ENST00000261517.5	-	48	5784	c.5711G>C	c.(5710-5712)aGa>aCa	p.R1904T	VPS13C_ENST00000395898.3_Missense_Mutation_p.R1861T|VPS13C_ENST00000249837.3_Missense_Mutation_p.R1861T|VPS13C_ENST00000395896.4_Missense_Mutation_p.R1904T	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1904					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTTCTCACTCTTACAGTCTC	0.348000													8	48					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848014	166848014	+	Missense_Mutation	SNP	C	C	A	rs3749029		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr2:166848014C>A	ENST00000423058.2	-	26	5788	c.5771G>T	c.(5770-5772)cGt>cTt	p.R1924L	SCN1A_ENST00000303395.4_Missense_Mutation_p.R1924L|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R1913L|SCN1A_ENST00000409050.1_Missense_Mutation_p.R1896L	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1924						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTGTAAGCACGCTGAATAAT	0.388000													28	64					6.04164e-23	6.35034e-23	1	1	0
AFF3	3899	broad.mit.edu	37	2	100210557	100210557	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr2:100210557C>G	ENST00000409236.2	-	13	1678	c.1566G>C	c.(1564-1566)gaG>gaC	p.E522D	AFF3_ENST00000356421.2_Missense_Mutation_p.E547D|AFF3_ENST00000317233.4_Missense_Mutation_p.E522D|AFF3_ENST00000409579.1_Missense_Mutation_p.E547D			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGCTCTTGATCTCCTTCTCTC	0.602000													6	132					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282758	152282758	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr1:152282758G>C	ENST00000368799.1	-	3	4639	c.4604C>G	c.(4603-4605)tCa>tGa	p.S1535*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1535	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGGGTCCTGACTGCCCATG	0.567000									Ichthyosis				47	377					0	0	1	0	0
ACTN4	81	broad.mit.edu	37	19	39200089	39200089	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr19:39200089G>A	ENST00000252699.2	+	7	782	c.706G>A	c.(706-708)Gac>Aac	p.D236N	ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	236	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)			GAAATACCTCGACATCCCCAA	0.557000													17	81					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54547217	54547217	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr18:54547217C>G	ENST00000254442.3	+	21	3558	c.3347C>G	c.(3346-3348)tCt>tGt	p.S1116C	WDR7_ENST00000357574.3_Missense_Mutation_p.S1083C|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1116										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		ATTTCTACATCTTACGAGGAA	0.358000													5	59					0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7240683	7240683	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr17:7240683G>C	ENST00000158762.3	+	2	312	c.106G>C	c.(106-108)Gaa>Caa	p.E36Q		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	36	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GACCCGTCTGGAAAAGGTGAC	0.557000													3	107					0	0	1	0	0
EIF2B2	8892	broad.mit.edu	37	14	75470268	75470268	+	Missense_Mutation	SNP	G	G	A	rs17849324		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr14:75470268G>A	ENST00000266126.5	+	3	379	c.299G>A	c.(298-300)aGc>aAc	p.S100N		NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	100				RLHGRSD -> DSMDAAT (in Ref. 2; AAC42002).	cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CATGGACGCAGCGACGAGAGT	0.527000													30	73					0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65310528	65310528	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr5:65310528G>A	ENST00000284037.5	+	7	897	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	ERBB2IP_ENST00000511297.1_Missense_Mutation_p.E170K|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.E170K|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.E170K|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.E170K|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.E170K|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.E170K|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.E170K|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.E170K|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.E170K	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	170					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	p.E170K(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGAGCTTAGAGAAAACCAGTT	0.209000													7	24					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122634684	122634684	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr3:122634684C>T	ENST00000195173.4	-	13	2045	c.1742G>A	c.(1741-1743)cGt>cAt	p.R581H	SEMA5B_ENST00000451055.2_Missense_Mutation_p.R635H|SEMA5B_ENST00000357599.3_Missense_Mutation_p.R581H			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	581					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGTGCTGCAACGTTGCTGCTT	0.622000													32	44					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34648553	34648553	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr15:34648553G>T	ENST00000537011.1	+	8	2726	c.2344G>T	c.(2344-2346)Gag>Tag	p.E782*	NUTM1_ENST00000438749.3_Nonsense_Mutation_p.E772*|NUTM1_ENST00000333756.4_Nonsense_Mutation_p.E754*	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1																		GTGTGTAACTGAGTATCAGGA	0.532000													7	79					0.00307968	0.00312305	1	1	0
FBLN1	2192	broad.mit.edu	37	22	45927195	45927195	+	Missense_Mutation	SNP	C	C	A	rs147266682		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr22:45927195C>A	ENST00000348697.2	+	5	682	c.535C>A	c.(535-537)Cgc>Agc	p.R179S	FBLN1_ENST00000262722.7_Missense_Mutation_p.R179S|FBLN1_ENST00000340923.5_Missense_Mutation_p.R179S|FBLN1_ENST00000442170.2_Missense_Mutation_p.R179S|FBLN1_ENST00000327858.6_Missense_Mutation_p.R179S|FBLN1_ENST00000402984.3_Missense_Mutation_p.R217S			P23142	FBLN1_HUMAN	fibulin 1	179	EGF-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCTGAATGACCGCTGCCGAGG	0.488000													29	43					9.80977e-26	1.03868e-25	1	1	0
WTAP	9589	broad.mit.edu	37	6	160174530	160174530	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr6:160174530T>C	ENST00000358372.4	+	7	2248	c.491T>C	c.(490-492)cTt>cCt	p.L164P	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	164					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		p.M163_L164delML(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TGTCGAATGCTTATCCAGGAG	0.438000													23	45					0	0	1	0	0
EVX1	2128	broad.mit.edu	37	7	27285709	27285709	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr7:27285709G>A	ENST00000496902.4	+	3	1375	c.889G>A	c.(889-891)Gcc>Acc	p.A297T	EVX1_ENST00000535619.1_Missense_Mutation_p.A115T|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_3'UTR			P49640	EVX1_HUMAN	even-skipped homeobox 1	297	Ala-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CTCCGCCGCCGCCTCGCCCTT	0.776000													4	15					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567000													5	216					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32241198	32241198	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr22:32241198G>A	ENST00000400246.1	+	30	3138	c.2996G>A	c.(2995-2997)cGg>cAg	p.R999Q	DEPDC5_ENST00000400249.2_Missense_Mutation_p.R990Q|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R990Q|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R921Q|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R921Q|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R999Q|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R999Q|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R990Q			O75140	DEPD5_HUMAN	DEP domain containing 5	990					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATTCGCAGGCGGCATCGCTCG	0.607000													16	19					0	0	1	0	0
AFTPH	54812	broad.mit.edu	37	2	64778744	64778744	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr2:64778744G>C	ENST00000422803.1	+	2	450	c.136G>C	c.(136-138)Gat>Cat	p.D46H	AFTPH_ENST00000238855.7_Missense_Mutation_p.D46H|AFTPH_ENST00000238856.4_Missense_Mutation_p.D46H|AFTPH_ENST00000409933.1_Missense_Mutation_p.D46H			Q6ULP2	AFTIN_HUMAN	aftiphilin	46					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AGGGTTTGTTGATTTCGATAC	0.408000													99	132					0	0	1	0	0
RPL10	6134	broad.mit.edu	37	X	153627864	153627864	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chrX:153627864A>G	ENST00000424325.2	+	4	307	c.119A>G	c.(118-120)aAg>aGg	p.K40R	RPL10_ENST00000406022.2_5'UTR|RPL10_ENST00000369817.2_Missense_Mutation_p.K40R	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	40					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCGGAAAAAGGCAAAAGTG	0.522000											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	116					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148768420	148768420	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr7:148768420G>A	ENST00000316286.9	-	3	1458	c.1186C>T	c.(1186-1188)Cag>Tag	p.Q396*	ZNF786_ENST00000451334.3_Nonsense_Mutation_p.Q445*|ZNF786_ENST00000491431.1_Nonsense_Mutation_p.Q482*			Q8N393	ZN786_HUMAN	zinc finger protein 786	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCTGGGCACTGAAAGGGCTTC	0.652000													3	21					0	0	1	0	0
THG1L	54974	broad.mit.edu	37	5	157159883	157159883	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr5:157159883G>A	ENST00000231198.7	+	2	443	c.199G>A	c.(199-201)Gag>Aag	p.E67K		NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	67					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity	p.E67K(1)		NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGGTTTGCTGAGAAGCACAA	0.473000													6	81					0	0	1	0	0
RAE1	8480	broad.mit.edu	37	20	55929795	55929795	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr20:55929795G>A	ENST00000395841.2	+	3	538	c.118G>A	c.(118-120)Gat>Aat	p.D40N	RAE1_ENST00000395840.2_Missense_Mutation_p.D40N|RAE1_ENST00000371242.2_Missense_Mutation_p.D40N|RAE1_ENST00000527947.1_Missense_Mutation_p.D40N	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	40					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			ATCTCCTGATGATAGCATTGG	0.398000													9	89					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151357947	151357947	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr4:151357947G>A	ENST00000535741.1	-	45	7323	c.6850C>T	c.(6850-6852)Caa>Taa	p.Q2284*	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000357115.3_Nonsense_Mutation_p.Q2295*|LRBA_ENST00000510413.1_Nonsense_Mutation_p.Q2284*|LRBA_ENST00000507224.1_Nonsense_Mutation_p.Q2284*			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2295	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTTGGAACTTGATCATCTTCC	0.393000													11	38					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81568654	81568654	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr12:81568654G>A	ENST00000548058.1	+	8	2096	c.1186G>A	c.(1186-1188)Gca>Aca	p.A396T	ACSS3_ENST00000548324.1_Missense_Mutation_p.A78T|ACSS3_ENST00000261206.3_Missense_Mutation_p.A395T			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	396						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AGCACCAACTGCAATTAGAGC	0.512000													14	46					0	0	1	0	0
FBXO28	23219	broad.mit.edu	37	1	224318184	224318184	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr1:224318184G>C	ENST00000366862.5	+	2	321	c.278G>C	c.(277-279)aGa>aCa	p.R93T	FBXO28_ENST00000424254.2_Missense_Mutation_p.R93T	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	93	F-box.							p.R93K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		GTTTGTAAAAGAATGGACTTG	0.373000													8	74					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21958155	21958155	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr12:21958155C>T	ENST00000261201.4	-	38	4602	c.4603G>A	c.(4603-4605)Gcc>Acc	p.A1535T	ABCC9_ENST00000261200.4_Intron|ABCC9_ENST00000345162.2_Missense_Mutation_p.A1499T	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1535	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTCTTGTGGGCGAGCAAATTT	0.438000													8	48					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27057936	27057937	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:27057936_27057937insC	ENST00000324856.7	+	3	2015_2016	c.1644_1645insC	c.(1645-1647)cccfs	p.P549fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.P549fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.P166fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	549					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Y551fs*72(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCAGAGCCAGCCCCCCTACTC	0.649			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								155	274	---	---	---	---					
DPPA4	55211	broad.mit.edu	37	3	109049606	109049606	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr3:109049606delT	ENST00000335658.6	-	5	498	c.444delA	c.(442-444)aaafs	p.K148fs	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	148						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CCACCTTTAATTTTTTTTGCA	0.413													7	163	---	---	---	---					
RREB1	6239	broad.mit.edu	37	6	7229719	7229725	+	Frame_Shift_Del	DEL	TCGGCCA	TCGGCCA	-	rs147038452		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:7229719_7229725delTCGGCCA	ENST00000379938.2	+	10	1924_1930	c.1387_1393delTCGGCCA	c.(1387-1395)tcggccatcfs	p.SAI463fs	RREB1_ENST00000349384.6_Frame_Shift_Del_p.SAI463fs|RREB1_ENST00000379933.3_Frame_Shift_Del_p.SAI463fs|RREB1_ENST00000334984.6_Frame_Shift_Del_p.SAI463fs	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	463					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTCTGGCGAGTCGGCCATCGAGCTGGC	0.599													103	50	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10586549	10586550	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:10586549_10586550insT	ENST00000265012.4	+	1	571_572	c.327_328insT	c.(328-330)tttfs	p.F110fs	GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	110						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		ACTTTGACACCTTTGAAAGGCT	0.465													8	68	---	---	---	---					
CDKN1A	1026	broad.mit.edu	37	6	36652057	36652058	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:36652057_36652058insG	ENST00000405375.1	+	2	414_415	c.179_180insG	c.(178-183)gagggtfs	p.EG60fs	CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.EG60fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.EG94fs|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.EG60fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	60					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						ACACCACTGGAGGGTGACTTCG	0.668													34	29	---	---	---	---					
NCR2	9436	broad.mit.edu	37	6	41303645	41303647	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:41303645_41303647delCTG	ENST00000373083.4	+	1	253_255	c.31_33delCTG	c.(31-33)ctgdel	p.L15del	NCR2_ENST00000373086.3_In_Frame_Del_p.L15del|NCR2_ENST00000373089.5_In_Frame_Del_p.L15del	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	15					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCCACTGCTACTGCTGCTGCTGC	0.635													4	5	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3																						TCCCAAGGTGGGGGGCTGAGGA	0.564													7	25	---	---	---	---					
RUFY2	55680	broad.mit.edu	37	10	70166569	70166570	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:70166569_70166570insA	ENST00000388768.2	-	1	376_377	c.50_51insT	c.(49-51)ttgfs	p.L17fs	RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000602465.1_Intron|RUFY2_ENST00000472394.2_Intron|RUFY2_ENST00000454950.2_Intron|RUFY2_ENST00000342616.4_Intron	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	0						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GCACCCAGGCCAAAACCTGAGA	0.708													31	54	---	---	---	---					
CCAR1	55749	broad.mit.edu	37	10	70531073	70531074	+	Frame_Shift_Ins	INS	-	-	A	rs3205757		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:70531073_70531074insA	ENST00000265872.6	+	18	2528_2529	c.2409_2410insA	c.(2410-2412)aaafs	p.K804fs	CCAR1_ENST00000535016.1_Frame_Shift_Ins_p.K789fs|CCAR1_ENST00000543719.1_Frame_Shift_Ins_p.K789fs	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	804	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						aagaaaaggataaaaaaagcaa	0.337													9	26	---	---	---	---					
TAOK2	9344	broad.mit.edu	37	16	29998498	29998500	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr16:29998498_29998500delCTG	ENST00000308893.4	+	16	3948_3950	c.2905_2907delCTG	c.(2905-2907)ctgdel	p.L974del	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del|TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	974	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCTGCCCCTCCTGCTGCTGCTGC	0.709													7	110	---	---	---	---					
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	-	GGC	rs71338073		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr18:77623691_77623692insGGC	ENST00000316249.3	+	1	24_25	c.24_25insGGC	c.(25-27)ggc>GGCggc	p.9_9G>GG		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	9	Poly-Gly.				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772													2	4	---	---	---	---					
SERHL	94009	broad.mit.edu	37	22	42898666	42898666	+	RNA	DEL	C	C	-			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr22:42898666delC	ENST00000359906.2	+	0	409					NR_027786.1				serine hydrolase-like											endometrium(1)|large_intestine(1)	2						CCATATGGTGCCCCCCCCCCA	0.592													3	4	---	---	---	---					
RREB1	6239	broad.mit.edu	37	6	7229719	7229725	+	Frame_Shift_Del	DEL	TCGGCCA	TCGGCCA	-	rs147038452		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr6:7229719_7229725delTCGGCCA	ENST00000379938.2	+	10	1924_1930	c.1387_1393delTCGGCCA	c.(1387-1395)tcggccatcfs	p.SAI463fs	RREB1_ENST00000334984.6_Frame_Shift_Del_p.SAI463fs|RREB1_ENST00000349384.6_Frame_Shift_Del_p.SAI463fs|RREB1_ENST00000379933.3_Frame_Shift_Del_p.SAI463fs	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	463					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTCTGGCGAGTCGGCCATCGAGCTGGC	0.599													103	50	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10586549	10586550	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr6:10586549_10586550insT	ENST00000265012.4	+	1	571_572	c.327_328insT	c.(328-330)tttfs	p.F110fs	GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	110						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		ACTTTGACACCTTTGAAAGGCT	0.465													8	68	---	---	---	---					
CDKN1A	1026	broad.mit.edu	37	6	36652057	36652058	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr6:36652057_36652058insG	ENST00000405375.1	+	2	414_415	c.179_180insG	c.(178-183)gagggtfs	p.EG60fs	CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.EG60fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.EG60fs|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.EG94fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	60					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						ACACCACTGGAGGGTGACTTCG	0.668													34	29	---	---	---	---					
LOC101928451	101928451	broad.mit.edu	37	7	128255832	128255833	+	RNA	INS	-	-	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr7:128255832_128255833insT	ENST00000605862.1	+	0	758																											TATAGAAATGATTTTTTTTTTC	0.282													3	5	---	---	---	---					
ERICH1-AS1	619343	broad.mit.edu	37	8	844731	844732	+	RNA	INS	-	-	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr8:844731_844732insG	ENST00000524139.1	+	0	151				ERICH1-AS1_ENST00000522092.1_RNA|ERICH1-AS1_ENST00000577187.1_RNA|ERICH1-AS1_ENST00000578889.1_RNA																							GGTGGCTGGCAGGGCAGGGTGG	0.713													5	4	---	---	---	---					
RUFY2	55680	broad.mit.edu	37	10	70166569	70166570	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr10:70166569_70166570insA	ENST00000388768.2	-	1	376_377	c.50_51insT	c.(49-51)ttgfs	p.L17fs	RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000602465.1_Intron|RUFY2_ENST00000472394.2_Intron|RUFY2_ENST00000454950.2_Intron|RUFY2_ENST00000342616.4_Intron	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	0						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GCACCCAGGCCAAAACCTGAGA	0.708													31	54	---	---	---	---					
CCAR1	55749	broad.mit.edu	37	10	70531073	70531074	+	Frame_Shift_Ins	INS	-	-	A	rs3205757		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-11A-21D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	cd984d8b-105e-42bc-8cfc-608b21b8bfa0	g.chr10:70531073_70531074insA	ENST00000265872.6	+	18	2528_2529	c.2409_2410insA	c.(2410-2412)aaafs	p.K804fs	CCAR1_ENST00000543719.1_Frame_Shift_Ins_p.K789fs|CCAR1_ENST00000535016.1_Frame_Shift_Ins_p.K789fs	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	804	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						aagaaaaggataaaaaaagcaa	0.337													9	26	---	---	---	---