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
FCRL5	83416	broad.mit.edu	37	1	157504477	157504477	+	Silent	SNP	T	T	C			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:157504477T>C	uc009wsm.3	-	7	1766	c.1608A>G	c.(1606-1608)tcA>tcG	p.S536S	FCRL5_uc001fqu.3_Silent_p.S536S|FCRL5_uc010phv.1_Silent_p.S536S|FCRL5_uc010phw.1_Silent_p.S451S|FCRL5_uc001fqv.1_Silent_p.S536S|FCRL5_uc010phx.2_Silent_p.S287S	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	536	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity	p.S536S(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGTAATTCCCTGAATGTCCTT	0.512000													31	55					0	0	1	0	0
CNNM2	54805	broad.mit.edu	37	10	104678361	104678361	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr10:104678361C>A	uc001kwm.3	+	0	287	c.124C>A	c.(124-126)Cag>Aag	p.Q42K	CNNM2_uc001kwn.3_Missense_Mutation_p.Q42K|CNNM2_uc001kwl.3_Missense_Mutation_p.Q42K	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	42					ion transport	integral to membrane		p.Q42K(3)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGGGATCCTGCAGGCGGCTGC	0.721000													2	2					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539873	56539873	+	Silent	SNP	A	A	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr19:56539873A>G	uc002qmj.3	+	6	2274	c.2274A>G	c.(2272-2274)ctA>ctG	p.L758L	NLRP5_uc002qmi.3_Silent_p.L739L	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	758						mitochondrion|nucleolus	ATP binding	p.L758L(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGGTCCCTCTATGGTGAGTAC	0.527000													8	346					0	0	1	0	0
GIF	2694	broad.mit.edu	37	11	59608634	59608634	+	Silent	SNP	A	A	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr11:59608634A>G	uc001noi.3	-	4	723	c.675T>C	c.(673-675)agT>agC	p.S225S		NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	225					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	p.S225S(2)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CGAGGCCAGTACTGTAGATGT	0.463000													57	101					0	0	1	0	0
C14orf129	51527	broad.mit.edu	37	14	96848763	96848763	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr14:96848763C>T	uc001yfj.4	+	2	324	c.179C>T	c.(178-180)gCg>gTg	p.A60V	C14orf129_uc001yfl.3_Missense_Mutation_p.A60V|C14orf129_uc021sbk.1_Missense_Mutation_p.A60V	NM_016472	NP_057556	Q9P0R6	GSKIP_HUMAN	Homo sapiens chromosome 14 open reading frame 129 (C14orf129), mRNA.	60						cytoplasm	protein binding	p.A60V(2)		large_intestine(1)|lung(1)|prostate(2)	4		Melanoma(154;0.226)		Epithelial(152;0.109)|COAD - Colon adenocarcinoma(157;0.205)		CTGCGGTGTGCGGATGATGTG	0.428000													74	110					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40162157	40162157	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr20:40162157T>C	uc002xka.1	-	2	264	c.86A>G	c.(85-87)aAt>aGt	p.N29S	CHD6_uc002xkd.2_Missense_Mutation_p.N7S|CHD6_uc002xkc.3_Missense_Mutation_p.N64S	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	29					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding	p.N29S(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTAGTCAAAATTGACAGAGGC	0.388000													80	101					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26917261	26917261	+	Silent	SNP	T	T	C			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr14:26917261T>C	uc001wqa.3	-	5	1848	c.1062A>G	c.(1060-1062)ggA>ggG	p.G354G	NOVA1_uc001wpy.3_Silent_p.G476G|NOVA1_uc001wpz.3_Silent_p.G452G	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	479	Ala-rich.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding	p.G476G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CAGCTGGTGTTCCAGTAATGG	0.458000													50	90					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39088318	39088318	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr2:39088318T>C	uc002rrf.3	-	4	1333	c.1234A>G	c.(1234-1236)Ata>Gta	p.I412V	DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Missense_Mutation_p.I412V	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	412							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	p.I412V(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AAAAGGGTTATCAAAGAATAT	0.423000													106	149					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97192297	97192297	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr10:97192297G>A	uc001kkp.3	-	3	254	c.209C>T	c.(208-210)gCg>gTg	p.A70V	SORBS1_uc001kkn.3_Missense_Mutation_p.A26V|SORBS1_uc001kkm.3_Missense_Mutation_p.A58V|SORBS1_uc001kko.3_Missense_Mutation_p.A70V|SORBS1_uc001kkq.3_Missense_Mutation_p.A70V|SORBS1_uc001kkr.3_Missense_Mutation_p.A38V|SORBS1_uc001kks.3_Missense_Mutation_p.A38V|SORBS1_uc001kkt.3_Non-coding_Transcript|SORBS1_uc001kku.3_Missense_Mutation_p.A70V|SORBS1_uc001kkv.3_Missense_Mutation_p.A38V|SORBS1_uc001kkw.3_Missense_Mutation_p.A70V|SORBS1_uc010qoe.2_Missense_Mutation_p.A38V|SORBS1_uc010qof.1_Missense_Mutation_p.A38V|SORBS1_uc001kkx.1_Missense_Mutation_p.A38V	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	70					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding	p.A70V(3)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GAGAGTCACCGCTCCCTTCCC	0.517000													45	86					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216052411	216052411	+	Silent	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:216052411G>A	uc001hku.1	-	41	8640	c.8253C>T	c.(8251-8253)aaC>aaT	p.N2751N		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2751	Fibronectin type-III 14.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.N2751N(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTATGTCTCCGTTCTGGATGA	0.418000										HNSCC(13;0.011)			60	111					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57566959	57566959	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr12:57566959C>A	uc001snd.3	+	20	3638	c.3172C>A	c.(3172-3174)Ccc>Acc	p.P1058T		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1058					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.P1058T(6)|p.R1057R(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGCCACGAGGCCCCCTGGTGG	0.672000											OREG0021936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	54					0	0	1	0	0
DUSP16	80824	broad.mit.edu	37	12	12630584	12630584	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr12:12630584T>C	uc001rao.2	-	6	1944	c.1181A>G	c.(1180-1182)aAt>aGt	p.N394S	DUSP16_uc001ran.2_Missense_Mutation_p.N246S	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	Homo sapiens dual specificity phosphatase 16 (DUSP16), mRNA.	394					MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive|inactivation of MAPK activity	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.N394S(2)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CTTGAGCTTATTGCTGTCTTC	0.552000													53	91					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48771531	48771531	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr8:48771531G>A	uc003xqi.3	-	47	6278	c.6221C>T	c.(6220-6222)aCg>aTg	p.T2074M	PRKDC_uc003xqj.3_Missense_Mutation_p.T2074M	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2075					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.T2075M(1)|p.T2074M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATCATGCACCGTGGGGTCCCG	0.602000								Non-homologous end-joining					7	265					0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2506607	2506607	+	Silent	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr16:2506607C>T	uc002cqd.1	+	16	2035	c.1947C>T	c.(1945-1947)tgC>tgT	p.C649C	CCNF_uc002cqe.1_Silent_p.C341C	NM_001761	NP_001752	P41002	CCNF_HUMAN	Homo sapiens cyclin F (CCNF), mRNA.	649	PEST.				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination	SCF ubiquitin ligase complex|centriole|nucleus	protein binding	p.C649C(4)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				AACAGCATTGCTGCCAGGAAT	0.607000													25	42					0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17084968	17084968	+	Missense_Mutation	SNP	G	G	C	rs2761533		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:17084968G>C	uc010ock.2	-	10	1507	c.1507C>G	c.(1507-1509)Cgg>Ggg	p.R503G	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.R77G					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.R472G(1)|p.R503G(1)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CACCGATTCCGCAAGCTGACT	0.617000													9	72					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107834822	107834822	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr7:107834822T>A	uc022aka.1	-	12	1620	c.1514A>T	c.(1513-1515)cAt>cTt	p.H505L	NRCAM_uc011kmk.2_Missense_Mutation_p.H505L|NRCAM_uc003vfd.3_Missense_Mutation_p.H486L|NRCAM_uc003vfe.3_Missense_Mutation_p.H486L|NRCAM_uc003vfc.3_Missense_Mutation_p.H499L	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	505	Ig-like 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.H499L(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCCATTTTCATGTAAAACATA	0.333000													62	116					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825344	4825344	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr11:4825344C>A	uc021qcs.1	-	0	267	c.267G>T	c.(265-267)tgG>tgT	p.W89C		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W168C(1)|p.W88C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGCATGAAACCAGAATATGG	0.527000													31	56					0	0	1	0	0
DDX19B	11269	broad.mit.edu	37	16	70363960	70363960	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr16:70363960A>G	uc002eyo.3	+	8	1141	c.1012A>G	c.(1012-1014)Atc>Gtc	p.I338V	DDX19B_uc002eys.3_Intron|DDX19B_uc010vlv.2_Missense_Mutation_p.I312V|DDX19B_uc010vlw.2_Missense_Mutation_p.I229V|DDX19B_uc002eyp.3_Missense_Mutation_p.I307V|DDX19B_uc002eyq.3_Missense_Mutation_p.I229V|DDX19B_uc010vlx.2_Missense_Mutation_p.I187V|LOC100506083_uc002eyt.3_Intron	NM_007242	NP_001014449	Q9UMR2	DD19B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-As) box polypeptide 19B (DDX19B), transcript variant 1, mRNA.	338	Helicase C-terminal.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding	p.I338V(2)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				TCAAGCCATGATCTTCTGCCA	0.592000													11	150					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122825728	122825728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr12:122825728C>A	uc001ucg.2	-	10	2178	c.2023G>T	c.(2023-2025)Gaa>Taa	p.E675*	CLIP1_uc001uch.1_Nonsense_Mutation_p.E664*|CLIP1_uc001uci.1_Nonsense_Mutation_p.E629*|CLIP1_uc001ucj.1_Nonsense_Mutation_p.E365*|CLIP1_uc009zxo.1_Nonsense_Mutation_p.E231*	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	675					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	p.R674L(1)|p.E664*(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TGCAAATTTTCTATTTCGTGT	0.388000													147	255					0	0	1	0	0
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr12:13028751G>C	uc010sho.2	+	0	341	c.319G>C	c.(319-321)Ggc>Cgc	p.G107R						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		GGTGTTTGACGGCATCCCACC	0.612000													4	15					0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34495228	34495228	+	Silent	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr6:34495228C>A	uc003ojo.3	+	2	441	c.183C>A	c.(181-183)acC>acA	p.T61T	PACSIN1_uc003ojp.3_Silent_p.T61T	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), transcript variant 1, mRNA.	61	FCH.				endocytosis		protein kinase activity	p.T61T(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGCAGCTCACCGACTGGGCCA	0.657000											OREG0017366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	5					0	0	1	0	0
MYNN	55892	broad.mit.edu	37	3	169497118	169497118	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr3:169497118A>G	uc003ffu.3	+	3	1325	c.829A>G	c.(829-831)Ata>Gta	p.I277V	MYNN_uc011bpm.2_Missense_Mutation_p.I163V|MYNN_uc003fft.3_Missense_Mutation_p.I277V|MYNN_uc003ffv.3_Missense_Mutation_p.I4V|MYNN_uc010hwo.3_Missense_Mutation_p.I277V|MYNN_uc003ffw.1_Non-coding_Transcript	NM_001185118	NP_061127	Q9NPC7	MYNN_HUMAN	Homo sapiens myoneurin (MYNN), transcript variant 2, mRNA.	277						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I277V(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TATGTCTAATATAGCCAGCGT	0.458000													28	59					0	0	1	0	0
MRPL38	64978	broad.mit.edu	37	17	73897875	73897875	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr17:73897875C>T	uc010wso.1	-	3	734	c.509G>A	c.(508-510)cGa>cAa	p.R170Q	FBF1_uc002jqa.1_Non-coding_Transcript|MRPL38_uc002jpz.1_Non-coding_Transcript	NM_032478	NP_115867	Q96DV4	RM38_HUMAN	Homo sapiens mitochondrial ribosomal protein L38 (MRPL38), nuclear gene encoding mitochondrial protein, mRNA.	170						actin cytoskeleton|mitochondrion|ribosome		p.R170Q(2)		ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGGGGGACTCGGGGCACAAA	0.607000													29	49					0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97216444	97216444	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr2:97216444G>A	uc002swe.3	+	5	644	c.544G>A	c.(544-546)Gcc>Acc	p.A182T	ARID5A_uc010yuq.2_Missense_Mutation_p.A130T|ARID5A_uc002swf.3_Missense_Mutation_p.A18T|ARID5A_uc002swg.3_Missense_Mutation_p.A130T	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA.	182					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	p.A182T(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						GCCGAAGAAGGCCAAGGAGGA	0.647000													8	5					0	0	1	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000													3	19					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131792813	131792813	+	Silent	SNP	G	G	A	rs146198447		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr8:131792813G>A	uc003ytd.4	-	17	3835	c.3579C>T	c.(3577-3579)gcC>gcT	p.A1193A	ADCY8_uc010mds.3_Silent_p.A1062A	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	1193					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.A1193A(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGACAACCGCGGCCAGGGAGT	0.498000										HNSCC(32;0.087)			62	99					0	0	1	0	0
EFS	10278	broad.mit.edu	37	14	23828655	23828655	+	Silent	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr14:23828655C>T	uc001wjo.3	-	3	1640	c.1032G>A	c.(1030-1032)ctG>ctA	p.L344L	EFS_uc001wjp.3_Silent_p.L251L|EFS_uc010tnm.2_Silent_p.L175L	NM_005864	NP_005855	O43281	EFS_HUMAN	Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA.	344	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	p.L344L(2)|p.R343L(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CATAACCAGGCAGGCGGGGTG	0.687000													33	61					0	0	1	0	0
MRPL20	55052	broad.mit.edu	37	1	1341203	1341203	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:1341203C>A	uc010nyn.1	-	2	358	c.262G>T	c.(262-264)Ggg>Tgg	p.G88W	MRPL20_uc001afo.4_Missense_Mutation_p.G88W	NM_017971	NP_060441	Q9BYC9	RM20_HUMAN	Homo sapiens mitochondrial ribosomal protein L20 (MRPL20), nuclear gene encoding mitochondrial protein, mRNA.	88							protein binding|rRNA binding	p.G88W(2)		endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACTAAATTCCCAATGAGCGCT	0.448000													13	289					0	0	1	0	0
ERMAP	114625	broad.mit.edu	37	1	43296646	43296646	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:43296646C>T	uc001cic.1	+	3	563	c.293C>T	c.(292-294)aCg>aTg	p.T98M	ERMAP_uc010ojw.1_Missense_Mutation_p.T159M|ERMAP_uc001cid.1_Intron|ERMAP_uc001cie.1_Missense_Mutation_p.T98M|ERMAP_uc001cif.1_Missense_Mutation_p.T8M	NM_001017922	NP_061008	Q96PL5	ERMAP_HUMAN	Homo sapiens erythroblast membrane-associated protein (Scianna blood group) (ERMAP), transcript variant 1, mRNA.	98	Ig-like V-type.					integral to membrane|plasma membrane		p.T98M(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AAGGGGAGGACGGTGCTAGTG	0.562000													22	45					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695757	247695757	+	Silent	SNP	G	G	A	rs61746303	byFrequency	TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:247695757G>A	uc021pmb.1	-	0	57	c.57C>T	c.(55-57)tcC>tcT	p.S19S	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.S19S	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S18S(2)|p.S19S(1)|p.T19K(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGGGTCGTGTGGAGAAGCCCA	0.488000													46	87					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186295344	186295344	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:186295344A>T	uc001grv.3	-	40	6210	c.5913T>A	c.(5911-5913)gaT>gaA	p.D1971E	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	1971	Poly-Asp.				carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.D1971E(2)|p.D1958E(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		catcatcatcatcttcctcat	0.423000			T	NTRK1	papillary thyroid								27	49					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33603475	33603475	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr19:33603475C>A	uc002nug.1	+	12	2162	c.1848C>A	c.(1846-1848)gaC>gaA	p.D616E	GPATCH1_uc002nuh.1_5'Flank	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	616						catalytic step 2 spliceosome	nucleic acid binding	p.D616E(2)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGCACCCTGACAAGCTTCTAT	0.413000													44	85					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93637062	93637062	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr9:93637062C>T	uc004aqz.3	+	8	1317	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	SYK_uc004ara.3_Missense_Mutation_p.T348M|SYK_uc004arb.3_Missense_Mutation_p.T348M|SYK_uc004arc.3_Missense_Mutation_p.T371M|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	371	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	p.T348M(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AAGCTGCTGACGCTGGAAGAC	0.522000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								13	315					0	0	1	0	0
ZNF223	7766	broad.mit.edu	37	19	44564709	44564709	+	Silent	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr19:44564709G>A	uc002oyf.1	+	2	370	c.117G>A	c.(115-117)gaG>gaA	p.E39E	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	Homo sapiens zinc finger protein 223 (ZNF223), mRNA.	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E39E(2)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TGATGCTGGAGAACTTCAGGA	0.532000													97	191					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191922752	191922752	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr2:191922752G>A	uc002usm.2	-	12	1513	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	STAT4_uc002usn.2_Nonsense_Mutation_p.R400*|STAT4_uc010zgk.1_Nonsense_Mutation_p.R245*|STAT4_uc002uso.2_Nonsense_Mutation_p.R400*	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	400					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.R400*(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ACCAAATGTCGAAATTCTACT	0.363000													45	78					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599666	29599666	+	Silent	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr13:29599666C>T	uc001usl.4	+	0	919	c.861C>T	c.(859-861)tcC>tcT	p.S287S		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	277						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.S287S(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CATCACATTCCGCCCATCCAG	0.517000													12	23					0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72228208	72228208	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr18:72228208G>A	uc002llq.3	+	3	632	c.421G>A	c.(421-423)Ggc>Agc	p.G141S	BC047599_uc002llr.3_5'Flank	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	141					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.G141S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGCTGACCGGGGCGATGGGTG	0.622000													87	132					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515710	140515710	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr5:140515710G>A	uc003liq.3	+	0	911	c.694G>A	c.(694-696)Gtc>Atc	p.V232I		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	232	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.V232I(2)|p.V231V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGCATTGTCGTCTTGGATAA	0.552000													33	433					0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170458976	170458976	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr4:170458976C>T	uc003isd.2	-	18	2227	c.1649G>A	c.(1648-1650)cGa>cAa	p.R550Q	NEK1_uc003ise.2_Missense_Mutation_p.R506Q|NEK1_uc003isb.2_Missense_Mutation_p.R550Q|NEK1_uc003isc.2_Missense_Mutation_p.R506Q|NEK1_uc003isf.2_Missense_Mutation_p.R481Q	NM_001199397	NP_001186326	Q96PY6	NEK1_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA.	550					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R550Q(3)|p.R550R(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCCTTCGGCTCGAGCTTTATT	0.383000													11	503					0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090481	115090481	+	Silent	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr13:115090481G>A	uc001vuv.3	+	2	1496	c.1164G>A	c.(1162-1164)gaG>gaA	p.E388E	CHAMP1_uc010tko.2_Silent_p.E388E|CHAMP1_uc010ahb.3_Silent_p.E388E|CHAMP1_uc021rmx.1_Silent_p.E388E	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	388	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	p.E388E(1)									CATCTCCTGAGTCATGGAAGT	0.542000													13	231					0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86376332	86376332	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr8:86376332G>T	uc003ydk.2	+	0	202	c.22G>T	c.(22-24)Ggc>Tgc	p.G8C		NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	8					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding	p.G8C(2)		central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CTGGGGGTACGGCAAACACAA	0.746000													2	0					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284306	152284306	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:152284306G>A	uc001ezu.1	-	2	3092	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1019	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.A1019V(2)|p.A1019A(1)		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)			ATGGGATGACGCAGCCTGTCC	0.582000									Ichthyosis				288	577					0	0	1	0	0
ANKRD5	63926	broad.mit.edu	37	20	10026343	10026343	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr20:10026343G>A	uc002wno.3	+	5	1211	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.R273Q|ANKRD5_uc010gbz.3_Missense_Mutation_p.R84Q	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	273							calcium ion binding	p.R273Q(2)		breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						ATAGCTCAGCGAGGTAAAATT	0.408000													31	77					0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76709105	76709105	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr5:76709105G>A	uc003kfa.3	+	16	1927	c.1882G>A	c.(1882-1884)Gct>Act	p.A628T	PDE8B_uc003kfd.3_Missense_Mutation_p.A581T|PDE8B_uc003kfe.3_Missense_Mutation_p.A531T|PDE8B_uc003kfb.3_Missense_Mutation_p.A608T|PDE8B_uc003kfc.3_Missense_Mutation_p.A573T	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	628	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.A628T(2)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GCACGCCACCGCTTTCTTTCT	0.473000													34	157					0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122063932	122063932	+	Splice_Site	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr4:122063932C>A	uc021xrj.1	-	11	1046	c.967_splice	c.e11-1	p.I323_splice	TNIP3_uc010ing.3_Splice_Site_p.I246_splice|TNIP3_uc011cgj.2_Splice_Site_p.I316_splice	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	246								p.?(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AAGCTTTTATCTAAAGACAAA	0.338000													34	163					0	0	1	0	0
SCAI	286205	broad.mit.edu	37	9	127790688	127790688	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr9:127790688C>A	uc004bpd.3	-	5	587	c.465G>T	c.(463-465)caG>caT	p.Q155H	SCAI_uc004bpe.3_Missense_Mutation_p.Q132H|SCAI_uc010mwu.3_Non-coding_Transcript	NM_173690	NP_775961	Q8N9R8	SCAI_HUMAN	Homo sapiens suppressor of cancer cell invasion (SCAI), transcript variant 1, mRNA.	132	Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).|Required for interaction with MKL1 (By similarity).				negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	p.Q155H(18)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						GATAGTATAGCTGCCCAATCT	0.338000													13	141					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121437365	121437365	+	Missense_Mutation	SNP	C	C	T	rs144674840		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr12:121437365C>T	uc001tzg.3	+	8	1726	c.1703C>T	c.(1702-1704)cCc>cTc	p.P568L	HNF1A_uc010szn.2_Missense_Mutation_p.P575L|HNF1A_uc021rfa.1_Missense_Mutation_p.P599L|HNF1A_uc021rfb.1_Missense_Mutation_p.P440L|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	568					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.P568L(3)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCCACGTCCCCAGCCAGGAC	0.687000									Hepatic Adenoma, Familial Clustering of				14	15					0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26608820	26608843	+	In_Frame_Del	DEL	GGGACTGGGGCCGGGACCGGGACC	-	-	rs66614970	by1000genomes	TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:26608820_26608843delGGGACTGGGGCCGGGACCGGGACC	uc001blw.3	-	15	1783_1806	c.1510_1533delGGTCCCGGTCCCGGCCCCAGTCCC	c.(1510-1533)ggtcccggtcccggccccagtcccdel	p.GPGPGPSP504del	UBXN11_uc001bly.3_In_Frame_Del_p.GPGPGPSP384del|UBXN11_uc001blz.1_Splice_Site_p.I469_splice|UBXN11_uc001blx.3_In_Frame_Del_p.GPGPGPSP262del|UBXN11_uc001bma.3_In_Frame_Del_p.GPGPGPSP471del	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	Homo sapiens UBX domain protein 11 (UBXN11), transcript variant 2, mRNA.	504	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.					cytoplasm|cytoskeleton		p.P503_G504insCP(2)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gtccaggacagggactggggccgggaccgggaccgggactgggg	0.714													9	63	---	---	---	---					
MACF1	23499	broad.mit.edu	37	1	39799059	39799060	+	Frame_Shift_Ins	INS	-	G	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:39799059_39799060insG	uc021olw.1	+	0	2119_2120	c.2119_2120insG	c.(2119-2121)aggfs	p.R707fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2272					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			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)			AGATAGTGGCAGGGAAATTTTT	0.391													10	197	---	---	---	---					
FAM53C	51307	broad.mit.edu	37	5	137680780	137680781	+	Frame_Shift_Ins	INS	-	G	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr5:137680780_137680781insG	uc003lcv.3	+	3	873_874	c.403_404insG	c.(403-405)cggfs	p.R135fs	FAM53C_uc003lcw.3_Frame_Shift_Ins_p.R135fs|FAM53C_uc011cyq.2_Intron|FAM53C_uc011cyr.2_Intron	NM_001135647	NP_057689	Q9NYF3	FA53C_HUMAN	Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA.	135										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCGGTGTGGCGGCCCGCCCCC	0.683													10	178	---	---	---	---					
MCHR2	84539	broad.mit.edu	37	6	100382358	100382358	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr6:100382358delA	uc003pqh.1	-	4	938	c.623delT	c.(622-624)ttcfs	p.F208fs	MCHR2_uc003pqi.1_Frame_Shift_Del_p.F208fs	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	208						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F208fs*5(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGGTAGAGGGAAAAAAAAAGT	0.343													7	198	---	---	---	---					
ODF1	4956	broad.mit.edu	37	8	103572984	103572992	+	In_Frame_Del	DEL	TGCAGCCCC	-	-	rs3018444	byFrequency	TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr8:103572984_103572992delTGCAGCCCC	uc003ykt.2	+	1	733_741	c.625_633delTGCAGCCCC	c.(625-633)tgcagccccdel	p.CSP215del		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA.	215	C-X-P repeat region.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	p.P217P(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CACTTCTCCTtgcagcccctgcagcccct	0.584													17	102	---	---	---	---					
ESCO1	114799	broad.mit.edu	37	18	19153404	19153406	+	In_Frame_Del	DEL	ATC	-	-			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr18:19153404_19153406delATC	uc002kth.1	-	3	2333_2335	c.1399_1401delGAT	c.(1399-1401)gatdel	p.D467del	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.	467					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						CTACTGTAATATCATTAATTTTC	0.330													57	126	---	---	---	---					
