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
LAYN	143903	broad.mit.edu	37	11	111431122	111431122	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr11:111431122C>T	ENST00000436913.2	+	6	1030	c.629C>T	c.(628-630)cCa>cTa	p.P210L	LAYN_ENST00000525126.1_3'UTR|LAYN_ENST00000533265.1_3'UTR|LAYN_ENST00000375614.2_Missense_Mutation_p.P355L|LAYN_ENST00000375615.3_Missense_Mutation_p.P363L	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN	layilin	363						cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		GAGTTCTCCCCAGACCAAATG	0.418000													13	75					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102292812	102292812	+	RNA	SNP	G	G	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr15:102292812G>T	ENST00000561463.1	+	0	858																											CTGCACTCGCGTGGGAACGAG	0.607000													3	25					0.00909568	0.00909568	1	1	0
UBE2J1	51465	broad.mit.edu	37	6	90039674	90039674	+	Silent	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:90039674G>A	ENST00000435041.2	-	8	959	c.681C>T	c.(679-681)taC>taT	p.Y227Y		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	227						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		TCTGGAGTCCGTACTAGGAAA	0.428000													16	55					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187663	152187663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr1:152187663G>A	ENST00000368801.2	-	3	6517	c.6442C>T	c.(6442-6444)Cga>Tga	p.R2148*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2148					keratinization		calcium ion binding|protein binding	p.R2148*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCGTGTCGTTCACCCCTA	0.587000													30	2110					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95858796	95858796	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr13:95858796C>T	ENST00000376887.4	-	8	1265	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Missense_Mutation_p.R309Q|ABCC4_ENST00000412704.1_Missense_Mutation_p.R384Q|ABCC4_ENST00000431522.1_Missense_Mutation_p.R384Q	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	384					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	p.R384Q(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CTGGATTCTTCGGATGCTGAC	0.478000													19	50					0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15501350	15501350	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:15501350G>T	ENST00000341776.2	+	8	2402	c.2158G>T	c.(2158-2160)Gag>Tag	p.E720*	JARID2_ENST00000541660.1_Nonsense_Mutation_p.E682*|JARID2_ENST00000397311.3_Nonsense_Mutation_p.E548*	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	720					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CCGGCGGCTGGAGAAGGAGGT	0.642000													4	124					0.00024832	0.000251587	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11840726	11840726	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr17:11840726G>A	ENST00000262442.3	+	66	12615	c.12547G>A	c.(12547-12549)Gca>Aca	p.A4183T	DNAH9_ENST00000454412.2_Missense_Mutation_p.A4107T|DNAH9_ENST00000396001.2_Missense_Mutation_p.A495T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4183					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCACCCGAACGCAGAGATTGG	0.577000													19	67					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21978705	21978705	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr8:21978705C>T	ENST00000381418.4	-	10	3720	c.2240G>A	c.(2239-2241)cGt>cAt	p.R747H	HR_ENST00000312841.8_Missense_Mutation_p.R747H	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	747							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TCGGCCAGCACGGTCCTCTGC	0.632000													13	126					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53783386	53783386	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr3:53783386A>G	ENST00000288139.3	+	28	3584	c.3466A>G	c.(3466-3468)Atc>Gtc	p.I1156V	CACNA1D_ENST00000350061.5_Missense_Mutation_p.I1136V|CACNA1D_ENST00000422281.2_Missense_Mutation_p.I1136V|CACNA1D_ENST00000540742.1_Missense_Mutation_p.I43V	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1136	Dihydropyridine binding (By similarity).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CATCATCTACATCATCATTGT	0.428000													24	45					0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74883672	74883672	+	Silent	SNP	T	T	C			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr15:74883672T>C	ENST00000346246.5	+	6	1293	c.1062T>C	c.(1060-1062)ctT>ctC	p.L354L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	354	Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L354L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCCTGCCCTTCTCTCCCCAC	0.647000													5	119					0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703777	4703777	+	Silent	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr11:4703777G>A	ENST00000396950.3	-	2	404	c.165C>T	c.(163-165)caC>caT	p.H55H		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		ACATCGGAGCGTGCAGGCTGC	0.517000													10	62					0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	30029663	30029663	+	Silent	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr3:30029663G>A	ENST00000434693.2	+	13	1825	c.1125G>A	c.(1123-1125)ggG>ggA	p.G375G	RBMS3_ENST00000452462.1_Silent_p.G360G|RBMS3_ENST00000383767.2_Silent_p.G376G|RBMS3_ENST00000396583.3_Silent_p.G373G|RBMS3_ENST00000383766.2_Silent_p.G358G|RBMS3_ENST00000456853.1_Silent_p.G373G|RBMS3_ENST00000273139.9_Silent_p.G360G|RBMS3_ENST00000473799.1_3'UTR	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	376						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CTATGCAAGGGACCTACATTC	0.403000													6	27					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102965586	102965586	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:102965586T>C	ENST00000233954.1	+	10	1436	c.1165T>C	c.(1165-1167)Tcc>Ccc	p.S389P		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	389	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GAACTACAAATCCAGTACAGA	0.388000													36	96					0	0	1	0	0
FAM26D	221301	broad.mit.edu	37	6	116879357	116879357	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:116879357A>G	ENST00000368596.3	+	2	972	c.928A>G	c.(928-930)Att>Gtt	p.I310V	FAM26D_ENST00000405399.1_Missense_Mutation_p.I167V|FAM26D_ENST00000368597.2_Missense_Mutation_p.I124V|FAM26D_ENST00000416171.2_Missense_Mutation_p.I166V			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D	310						integral to membrane				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		ATCAAGAGGTATTGAATTAAA	0.398000													10	70					0	0	1	0	0
PCDHA10	0	broad.mit.edu	37	5	140237073	140237073	+	Silent	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr5:140237073C>T	ENST00000307360.5	+	1	1440	c.1440C>T	c.(1438-1440)gaC>gaT	p.D480D	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.D480D|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.D480D(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCGTGGGACGCGGACGCGC	0.657000													31	118					0	0	1	0	0
ZNF311	282890	broad.mit.edu	37	6	28963224	28963224	+	Silent	SNP	T	T	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:28963224T>G	ENST00000377179.3	-	7	2067	c.1555A>C	c.(1555-1557)Aga>Cga	p.R519R	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						GTGTGGATTCTCTGATGGATG	0.468000													9	69					0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31475003	31475003	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:31475003G>A	ENST00000252229.6	+	4	897	c.818G>A	c.(817-819)cGc>cAc	p.R273H	MICB_ENST00000538442.1_Missense_Mutation_p.R241H|MICB_ENST00000399150.3_Missense_Mutation_p.R230H	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	273	Ig-like C1-type.				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						ACCAGGATTCGCCAAGGAGAG	0.607000													12	29					0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003756	50003756	+	Silent	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr11:50003756C>T	ENST00000335238.4	-	1	315	c.282G>A	c.(280-282)ggG>ggA	p.G94G		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GAGCCATACACCCATTAAAGG	0.433000													15	94					0	0	1	0	0
LINC00264	0	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													3	25					0	0	1	0	0
PCDHA7	0	broad.mit.edu	37	5	140215668	140215668	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr5:140215668C>T	ENST00000525929.1	+	1	1700	c.1700C>T	c.(1699-1701)gCg>gTg	p.A567V	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A567V|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_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)			GCACTGCTGGCGCCTCGGGTG	0.692000													38	121					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47144880	47144880	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr3:47144880G>A	ENST00000409792.3	-	7	4915	c.4873C>T	c.(4873-4875)Cgt>Tgt	p.R1625C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1625	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.R1122C(1)|p.R1625C(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTCATGAAACGAGAGCAATTT	0.348000			"""N, F, S, Mis"""		clear cell renal carcinoma								12	99					0	0	1	0	0
BTN2A2	10385	broad.mit.edu	37	6	26393183	26393183	+	Silent	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:26393183C>T	ENST00000356709.4	+	8	1671	c.1560C>T	c.(1558-1560)caC>caT	p.H520H	BTN2A2_ENST00000482536.1_Silent_p.H310H|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000416795.2_Silent_p.H520H|BTN2A2_ENST00000352867.2_Silent_p.H404H	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	520					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGGGGACCCACCAGAGCCTAT	0.567000													12	40					0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89888740	89888740	+	Silent	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:89888740G>A	ENST00000435811.1	-	9	1592	c.1138C>T	c.(1138-1140)Ctg>Ttg	p.L380L	GABRR1_ENST00000369451.3_Silent_p.L310L|GABRR1_ENST00000454853.2_Silent_p.L397L	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	397					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TTGCCGTCCAGCATCGCAGTG	0.562000													13	45					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233750036	233750036	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:233750036G>A	ENST00000264051.3	-	10	1669	c.1391C>T	c.(1390-1392)aCg>aTg	p.T464M	NGEF_ENST00000539537.1_Missense_Mutation_p.T187M|NGEF_ENST00000373552.4_Missense_Mutation_p.T372M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	464					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CATCTGTTCCGTGCGGCTCAT	0.597000													30	88					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	325674	325674	+	Silent	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr9:325674C>T	ENST00000432829.2	+	8	943	c.627C>T	c.(625-627)ttC>ttT	p.F209F	DOCK8_ENST00000453981.1_Silent_p.F277F|DOCK8_ENST00000469391.1_Silent_p.F209F	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	277					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATGGTAGGTTCGAGATTGAAA	0.358000													20	108					0	0	1	0	0
TMOD2	29767	broad.mit.edu	37	15	52074950	52074950	+	Silent	SNP	A	A	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr15:52074950A>G	ENST00000249700.4	+	7	878	c.657A>G	c.(655-657)gcA>gcG	p.A219A	TMOD2_ENST00000539962.2_Silent_p.A175A|TMOD2_ENST00000435126.2_Intron	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	219					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		GGGAATTTGCAAAGGCTCTGG	0.463000													33	103					0	0	1	0	0
MORN5	254956	broad.mit.edu	37	9	124929186	124929186	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr9:124929186G>A	ENST00000536616.1	+	2	225	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	MORN5_ENST00000373764.3_Missense_Mutation_p.A63T|MORN5_ENST00000486801.1_3'UTR			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	63										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						AAACGGATTGGCCATAAAGGT	0.557000													8	16					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233245422	233245422	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:233245422C>T	ENST00000392027.2	+	8	1224	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	319						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGCTGCCCTGCGCCTGCTGAG	0.632000													14	85					0	0	1	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs145791878	by1000genomes	TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY.					intracellular	zinc ion binding	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323000													3	56					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95082849	95082849	+	Silent	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr10:95082849G>A	ENST00000371501.4	-	48	5564	c.5442C>T	c.(5440-5442)gaC>gaT	p.D1814D	MYOF_ENST00000359263.4_Silent_p.D1814D|MYOF_ENST00000371502.4_Silent_p.D1804D|MYOF_ENST00000358334.5_Silent_p.D1801D			Q9NZM1	MYOF_HUMAN	myoferlin	1814					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGACGTAGATGTCACTCATTT	0.458000													45	124					0	0	1	0	0
OR3A3	8392	broad.mit.edu	37	17	3324353	3324353	+	Silent	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr17:3324353C>T	ENST00000291231.1	+	1	492	c.492C>T	c.(490-492)aaC>aaT	p.N164N		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						CCTTCACCAACGCACTGACCC	0.587000													13	132					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30704051	30704051	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr8:30704051C>T	ENST00000256246.2	-	1	2557	c.2483G>A	c.(2482-2484)gGt>gAt	p.G828D		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	828										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGCATTTTCACCAAAAGGCTG	0.358000													28	77					0	0	1	0	0
SERINC2	347735	broad.mit.edu	37	1	31897680	31897680	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr1:31897680G>A	ENST00000373710.1	+	4	652	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	SERINC2_ENST00000536384.1_Missense_Mutation_p.V122M|SERINC2_ENST00000536859.1_Missense_Mutation_p.V122M|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000373709.3_Missense_Mutation_p.V118M	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	118						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CATGCTCTGCGTGAGCAGCAG	0.652000													6	6					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113481174	113481174	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr13:113481174A>G	ENST00000487903.1	+	12	1278	c.1190A>G	c.(1189-1191)aAc>aGc	p.N397S	ATP11A_ENST00000375645.3_Missense_Mutation_p.N397S|ATP11A_ENST00000283558.8_Missense_Mutation_p.N397S|ATP11A_ENST00000375630.2_Missense_Mutation_p.N397S			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	397					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CCTCTGGTGAACACGTCGGAC	0.527000													13	42					0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201726	71201726	+	Missense_Mutation	SNP	G	G	A	rs139939232		TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr4:71201726G>A	ENST00000273936.4	+	1	1029	c.970G>A	c.(970-972)Gtt>Att	p.V324I		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	324						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATATGACTTCGTTGTCCCTGC	0.413000													18	53					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131466566	131466566	+	Missense_Mutation	SNP	C	C	T	rs144030317		TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr12:131466566C>T	ENST00000261654.5	+	5	1007	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	GPR133_ENST00000535015.1_Missense_Mutation_p.R182W	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	150					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R150W(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCTGTATACGCGGGACAATTC	0.587000													17	57					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1081707	1081707	+	Silent	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr11:1081707G>A	ENST00000441003.2	+	13	1662	c.1635G>A	c.(1633-1635)ctG>ctA	p.L545L	MUC2_ENST00000359061.5_Silent_p.L545L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	545	VWFD 2.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCAGCGGGCTGGTGGAGGCCA	0.632000													11	20					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169484642	169484642	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr5:169484642G>A	ENST00000256935.8	+	44	4519	c.4439G>A	c.(4438-4440)cGc>cAc	p.R1480H	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R972H|DOCK2_ENST00000540750.1_Missense_Mutation_p.R541H	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1480	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGATCCTGCGCTGGTTTGAG	0.607000													11	26					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136508598	136508598	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr9:136508598G>A	ENST00000393056.2	+	4	820	c.808G>A	c.(808-810)Gcc>Acc	p.A270T		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	270					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CTTCCAGTGCGCCCCCGAGAT	0.662000													16	46					0	0	1	0	0
UGT1A5	0	broad.mit.edu	37	2	234621899	234621899	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:234621899G>A	ENST00000373414.3	+	1	262	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GACCCAGGACGAATTTGATCG	0.428000													4	143					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33407399	33407399	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr7:33407399G>A	ENST00000242067.6	+	17	2235	c.1714G>A	c.(1714-1716)Gat>Aat	p.D572N	BBS9_ENST00000355070.2_Missense_Mutation_p.D567N|BBS9_ENST00000396127.2_Missense_Mutation_p.D537N|BBS9_ENST00000354265.4_Missense_Mutation_p.D537N|BBS9_ENST00000350941.3_Missense_Mutation_p.D532N	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	572					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TCAGTCAGATGATGATCAGGT	0.373000									Bardet-Biedl syndrome				22	124					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698258	17698258	+	Silent	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:17698258C>T	ENST00000399080.2	-	1	1448	c.1425G>A	c.(1423-1425)acG>acA	p.T475T		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	475										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCCAAACAGTCGTTATTAAAG	0.343000													14	50					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72338854	72338854	+	Silent	SNP	T	T	C			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr15:72338854T>C	ENST00000356056.5	-	2	523	c.51A>G	c.(49-51)acA>acG	p.T17T	MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000564571.1_Silent_p.T17T|MYO9A_ENST00000444904.1_Silent_p.T17T|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Silent_p.T17T	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	17	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATATCCGTAATGTATGTTCAT	0.408000													20	129					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37041349	37041349	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:37041349G>A	ENST00000379242.3	+	16	2229	c.1927G>A	c.(1927-1929)Gtt>Att	p.V643I	VIT_ENST00000401530.1_Missense_Mutation_p.V607I|VIT_ENST00000497382.1_Missense_Mutation_p.V297I|VIT_ENST00000404084.1_Missense_Mutation_p.V580I|VIT_ENST00000379241.3_Missense_Mutation_p.V606I|VIT_ENST00000389975.3_Missense_Mutation_p.V628I	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	628	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGCGATAGGCGTTGCCTGGGC	0.512000													13	30					0	0	1	0	0
CTD-2324F15.2	0	broad.mit.edu	37	5	6337339	6337339	+	RNA	SNP	C	C	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr5:6337339C>A	ENST00000507444.1	-	0	66					NR_028351.1																						AGCAGGGATACTTTTTACAGC	0.542000													17	67					3.8784e-16	4.20616e-16	1	1	0
SCAND3	114821	broad.mit.edu	37	6	28543532	28543532	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:28543532C>G	ENST00000452236.2	-	3	1567	c.950G>C	c.(949-951)aGc>aCc	p.S317T		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	317					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATGTCCAATGCTGAGATGTGT	0.378000													53	170					0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47119680	47119680	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr17:47119680G>A	ENST00000290341.3	+	9	1352	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.E201K	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	340	KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTGCAGGGCCGAGCAGGAAAT	0.512000													20	69					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	705313	705313	+	Silent	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr16:705313G>A	ENST00000549091.1	+	15	1655	c.1563G>A	c.(1561-1563)gcG>gcA	p.A521A	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000293879.4_Silent_p.A521A	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	521										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCAGGATGGCGTCGTGCGGGC	0.697000													9	26					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57373887	57373887	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr11:57373887G>A	ENST00000403558.1	+	5	1391	c.1025G>A	c.(1024-1026)tGg>tAg	p.W342*	SERPING1_ENST00000340687.6_Nonsense_Mutation_p.W299*|SERPING1_ENST00000378324.2_Nonsense_Mutation_p.W247*|SERPING1_ENST00000278407.4_Nonsense_Mutation_p.W299*|SERPING1_ENST00000378323.4_Nonsense_Mutation_p.W304*	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	299					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CTAGCCAAGTGGAAGACAACA	0.443000													4	101					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			10	46					0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35791251	35791251	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr19:35791251G>A	ENST00000361922.4	+	6	1064	c.914G>A	c.(913-915)tGc>tAc	p.C305Y	MAG_ENST00000537831.2_Missense_Mutation_p.C280Y|MAG_ENST00000392213.3_Missense_Mutation_p.C305Y	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	305	Ig-like C2-type 2.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTCTATGCCTGCCTGGCCGAG	0.677000													11	23					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5155075	5155075	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr12:5155075G>A	ENST00000252321.3	+	1	1991	c.1762G>A	c.(1762-1764)Gtc>Atc	p.V588I		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	588						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GAAGTGTAACGTCAAGGCCAA	0.592000													10	22					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40408807	40408807	+	Silent	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr19:40408807G>A	ENST00000221347.6	-	8	4039	c.4032C>T	c.(4030-4032)aaC>aaT	p.N1344N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1344	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGATCTGGCCGTTGGCCAGCA	0.587000													13	30					0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69093101	69093101	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:69093101G>A	ENST00000295379.1	-	2	1095	c.937C>T	c.(937-939)Cga>Tga	p.R313*		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	313					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTTCTGATTCGGGCAGTGGAG	0.527000													11	41					0	0	1	0	0
NDUFS1	4719	broad.mit.edu	37	2	207009618	207009618	+	Silent	SNP	G	G	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:207009618G>T	ENST00000233190.5	-	9	1136	c.870C>A	c.(868-870)acC>acA	p.T290T	NDUFS1_ENST00000440274.1_Silent_p.T254T|NDUFS1_ENST00000432169.1_Silent_p.T179T|NDUFS1_ENST00000423725.1_Silent_p.T233T|NDUFS1_ENST00000457011.1_Silent_p.T174T|NDUFS1_ENST00000455934.2_Silent_p.T304T|NDUFS1_ENST00000449699.1_Silent_p.T290T	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	290					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	GCATATACCTGGTTTTATCAG	0.299000													16	57					1.99824e-07	2.137e-07	1	1	0
FGF16	8823	broad.mit.edu	37	X	76711876	76711876	+	Silent	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chrX:76711876G>A	ENST00000439435.1	+	2	213	c.213G>A	c.(211-213)acG>acA	p.T71T				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						ACAGTATTACGTGGCCCTGAA	0.463000													20	19					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33638052	33638052	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr13:33638052C>T	ENST00000380099.3	+	5	2776	c.2768C>T	c.(2767-2769)cCg>cTg	p.P923L	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	923	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CGCACAGCTCCGAGGTTTGGC	0.443000													44	136					0	0	1	0	0
LIN52	91750	broad.mit.edu	37	14	74665655	74665655	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr14:74665655A>G	ENST00000555028.1	+	6	493	c.326A>G	c.(325-327)aAt>aGt	p.N109S		NM_001024674.2	NP_001019845.1	Q52LA3	LIN52_HUMAN	lin-52 homolog (C. elegans)	109										breast(1)|endometrium(2)|lung(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.00471)		AAATTCCTCAATATTCTAGAG	0.458000													16	22					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73148881	73148881	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr4:73148881G>A	ENST00000286657.4	-	22	3626	c.3590C>T	c.(3589-3591)cCg>cTg	p.P1197L		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1197					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGATCTTGTCGGACGTCTGTT	0.448000													4	141					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118484571	118484571	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr5:118484571A>G	ENST00000311085.8	+	18	3129	c.3049A>G	c.(3049-3051)Att>Gtt	p.I1017V	DMXL1_ENST00000539542.1_Missense_Mutation_p.I1017V	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1017										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)		GAATGGAAAAATTGATCTTGC	0.388000													22	95					0	0	1	0	0
FBXO41	150726	broad.mit.edu	37	2	73490392	73490392	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:73490392delC	ENST00000521871.1	-	9	2535	c.2120delG	c.(2119-2121)gcfs	p.G707fs	FBXO41_ENST00000520530.2_Frame_Shift_Del_p.G707fs|FBXO41_ENST00000295133.5_Frame_Shift_Del_p.G768fs			Q8TF61	FBX41_HUMAN	F-box protein 41	707						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GCAGCCTGCGCCCAGGGCCCA	0.612													2	4	---	---	---	---					
TNK2	10188	broad.mit.edu	37	3	195595228	195595229	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr3:195595228_195595229insG	ENST00000333602.6	-	12	2512_2513	c.1895_1896insC	c.(1894-1896)cccfs	p.P632fs	TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	632	Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CATAGGCGGGCGGGGGGGGCAG	0.728													10	44	---	---	---	---					
NUTM2F	54754	broad.mit.edu	37	9	97080945	97080947	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr9:97080945_97080947delAGA	ENST00000253262.4	-	7	2091_2093	c.2071_2073delTCT	c.(2071-2073)del	p.S691del	NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del|NUTM2F_ENST00000335456.7_Intron	NM_017561.1	NP_060031.1			NUT family member 2F									p.S557delS(1)									TGCTGGCAGGAGAAGGTGATGGG	0.611													6	4	---	---	---	---					
SACS	26278	broad.mit.edu	37	13	23914687	23914687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr13:23914687delT	ENST00000382298.3	-	10	3916	c.3328delA	c.(3328-3330)ttfs	p.I1110fs	SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.I1110fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1110					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGGCTTCAATTTTTTTTGCC	0.383													12	310	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48941638	48941641	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr13:48941638_48941641delTCTT	ENST00000267163.4	+	10	1086_1089	c.948_951delTCTT	c.(946-951)aafs	p.NL316fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	316					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGTTGAAAATCTTTCTAAACGAT	0.299		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			12	76	---	---	---	---					
SMG1	23049	broad.mit.edu	37	16	18863422	18863424	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr16:18863422_18863424delAAG	ENST00000446231.2	-	33	5429_5431	c.5017_5019delCTT	c.(5017-5019)del	p.L1673del	SMG1_ENST00000389467.3_In_Frame_Del_p.L1673del			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1673	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CAGCCTGTCCAAGAATACCATAT	0.443													18	47	---	---	---	---					
AFMID	125061	broad.mit.edu	37	17	76198801	76198801	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr17:76198801delT	ENST00000409257.5	+	4	331	c.277delT	c.(277-279)tcfs	p.F94fs	AFMID_ENST00000591952.1_Intron|AFMID_ENST00000327898.5_Frame_Shift_Del_p.F94fs|AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000588800.1_Frame_Shift_Del_p.F59fs	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	94						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			TTTCTTCCTGTTCTTTCACGG	0.617													2	4	---	---	---	---					
