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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_by_all_platform	validation_method	validation_tumor_sample
GLTPD1	80772	broad.mit.edu	37	1	1262843	1262843	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:1262843G>A	uc001aeo.2	+	3	760	c.345G>A	c.(343-345)CTG>CTA	p.L115L	CPSF3L_uc001aee.1_5'Flank|CPSF3L_uc001aef.1_5'Flank|CPSF3L_uc009vjz.1_5'Flank|CPSF3L_uc010nyj.1_5'Flank|CPSF3L_uc001aeg.1_5'Flank|CPSF3L_uc001aeh.1_5'Flank|CPSF3L_uc001aei.1_5'Flank|CPSF3L_uc001aej.1_5'Flank|CPSF3L_uc001aek.1_5'Flank|CPSF3L_uc001aem.1_5'Flank|CPSF3L_uc001ael.1_5'Flank|CPSF3L_uc001aen.1_5'Flank	NM_001029885	NP_001025056	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	115						cytoplasm	glycolipid binding|glycolipid transporter activity				0	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;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCGCGCCCTGCACTGGCTGC	0.726		NaN											0	0	0	0.004672	0	3	10				
H6PD	9563	broad.mit.edu	37	1	9323690	9323690	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:9323690G>A	uc001apt.2	+	5	1411	c.1138G>A	c.(1138-1140)GTG>ATG	p.V380M		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	380	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding				0	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GGCCTGCTGTGTGCAGAGCGA	0.642		NaN											0	0	0	0.001984	0	7	74				
MRTO4	51154	broad.mit.edu	37	1	19584361	19584361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:19584361C>T	uc001bbs.2	+	6	631	c.376C>T	c.(376-378)CGA>TGA	p.R126*		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog	126					ribosome biogenesis	nuclear membrane|nucleolus					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGACTACGCCCGAGCTGGTAA	0.587		NaN											0	0	0	0.007413	0	19	99				
IL28RA	163702	broad.mit.edu	37	1	24483775	24483775	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:24483775G>A	uc001bis.2	-	7	1421	c.1408C>T	c.(1408-1410)CAG>TAG	p.Q470*	IL28RA_uc001bir.2_Nonsense_Mutation_p.Q441*|IL28RA_uc001bit.2_3'UTR|IL28RA_uc001biu.2_Nonsense_Mutation_p.Q386*	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	interleukin 28 receptor, alpha isoform 1	470	Cytoplasmic (Potential).				cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		GTCAGTGTCTGAAGAGAAACT	0.612		NaN											0	0	0	0.013537	0	13	76				
PPP1R8	5511	broad.mit.edu	37	1	28176864	28176864	+	Silent	SNP	C	C	G	rs144281839	byFrequency	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:28176864C>G	uc001bov.1	+	7	1017	c.963C>G	c.(961-963)GTC>GTG	p.V321V	PPP1R8_uc001bow.1_Silent_p.V179V|PPP1R8_uc001box.1_Silent_p.V97V|PPP1R8_uc009vtc.1_RNA|PPP1R8_uc009vtd.1_RNA	NM_014110	NP_054829	Q12972	PP1R8_HUMAN	protein phosphatase 1 regulatory inhibitor	321	Interaction with EED.				mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding				0		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCTGCAGTCTATAACCCTG	0.488		NaN											0	0	0	0.004482	0	9	85				
TINAGL1	64129	broad.mit.edu	37	1	32051353	32051353	+	Splice_Site	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:32051353G>A	uc001bta.2	+	10	1220	c.1094_splice	c.e10-1	p.A365_splice	TINAGL1_uc001bsz.2_Splice_Site_p.A220_splice|TINAGL1_uc010ogj.1_Splice_Site_p.A334_splice|TINAGL1_uc010ogk.1_Splice_Site_p.A365_splice	NM_022164	NP_071447	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1						endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity				0		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		TCTGCCCACAGCCCTCATGGA	0.597		NaN											0	0	0	0.000602	0	5	18				
KHDRBS1	10657	broad.mit.edu	37	1	32503563	32503563	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:32503563C>G	uc001bub.2	+	6	1139	c.1033C>G	c.(1033-1035)CCA>GCA	p.P345A	KHDRBS1_uc001bua.1_Missense_Mutation_p.P306A|KHDRBS1_uc001buc.1_RNA	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal	345	Pro-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGCTCCAGCACCAAGAGCACG	0.542		NaN											0	0	0	0.006214	0	10	108				
FAM167B	84734	broad.mit.edu	37	1	32713099	32713099	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:32713099C>T	uc001buw.2	+	1	282	c.77C>T	c.(76-78)TCT>TTT	p.S26F		NM_032648	NP_116037	Q9BTA0	F167B_HUMAN	hypothetical protein LOC84734	26										ovary(1)	1						AGCCTGGACTCTGTGAAGGCA	0.622		NaN											0	0	0	0.003163	0	15	30				
EIF2C4	192670	broad.mit.edu	37	1	36301437	36301437	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:36301437G>C	uc001bzj.1	+	13	1757	c.1567G>C	c.(1567-1569)GAG>CAG	p.E523Q		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4	523	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ttttGTAGCGGAGGTGAAACG	0.363		NaN											0	0	0	0.001168	0	6	38				
EIF2C4	192670	broad.mit.edu	37	1	36301505	36301505	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:36301505G>A	uc001bzj.1	+	13	1825	c.1635G>A	c.(1633-1635)GTG>GTA	p.V545V		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4	545	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAATGTAGTGAAGACCTCAC	0.388		NaN											0	0	0	0.008291	0	9	67				
KIAA0754	643314	broad.mit.edu	37	1	39876004	39876004	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:39876004G>T	uc009vvt.1	+	1	829	c.67G>T	c.(67-69)GAG>TAG	p.E23*	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	Error:Variant_position_missing_in_O94854_after_alignment											0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	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)			GAAAGGAGAGGAGGAGGATGG	0.463		NaN											1	0	3.09899e-07	0.004482	3.47121e-07	7	35				
MOBKL2C	148932	broad.mit.edu	37	1	47078790	47078790	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:47078790G>C	uc001cqf.3	-	2	435	c.204C>G	c.(202-204)TTC>TTG	p.F68L	MKNK1_uc010omf.1_Intron|MOBKL2C_uc001cqe.3_Missense_Mutation_p.F120L	NM_201403	NP_958805	Q70IA8	MOL2C_HUMAN	MOB1, Mps One Binder kinase activator-like 2C	68							metal ion binding			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					TGATGCGGTTGAAGAAGTCCA	0.652		NaN											0	0	0	0.001984	0	7	27				
NFIA	4774	broad.mit.edu	37	1	61869892	61869892	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:61869892G>C	uc001czw.2	+	8	1676	c.1192G>C	c.(1192-1194)GAA>CAA	p.E398Q	NFIA_uc001czy.2_Missense_Mutation_p.E390Q|NFIA_uc010oos.1_Missense_Mutation_p.E443Q|NFIA_uc001czv.2_Missense_Mutation_p.E398Q|NFIA_uc001czx.2_Missense_Mutation_p.E46Q|NFIA_uc009wae.2_5'Flank	NM_001134673	NP_001128145	Q12857	NFIA_HUMAN	nuclear factor I/A isoform 1	398					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)|skin(1)	2						GACGCTGAAAGAATTTGTCCA	0.493		NaN											0	0	0	0.000602	0	5	48				
DNASE2B	58511	broad.mit.edu	37	1	84880418	84880418	+	Missense_Mutation	SNP	G	G	A	rs146223730		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:84880418G>A	uc001djt.1	+	6	986	c.953G>A	c.(952-954)CGC>CAC	p.R318H	DNASE2B_uc001dju.1_Missense_Mutation_p.R110H|DNASE2B_uc009wch.1_Missense_Mutation_p.R110H	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta isoform 1 precursor	318					DNA metabolic process	lysosome	deoxyribonuclease II activity				0				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		ACCAAAAATCGCTGGACATGT	0.388		NaN						Direct_reversal_of_damage					0	0	0	0.008291	0	11	34				
SLC25A24	29957	broad.mit.edu	37	1	108679440	108679440	+	Silent	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:108679440T>C	uc001dvn.3	-	10	1483	c.1269A>G	c.(1267-1269)CCA>CCG	p.P423P	SLC25A24_uc001dvm.2_Silent_p.P404P	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 member 24 isoform 1	423	Mitochondrial matrix (Potential).|Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)	1		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TATTCAGCTGTGGGGAACCTT	0.373		NaN											0	0	0	0.004482	0	9	36				
DDX20	11218	broad.mit.edu	37	1	112308496	112308496	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:112308496C>G	uc001ebs.2	+	11	1807	c.1450C>G	c.(1450-1452)CAA>GAA	p.Q484E	DDX20_uc010owf.1_Missense_Mutation_p.Q246E|DDX20_uc001ebt.2_Missense_Mutation_p.Q92E	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	484	SMN interacting.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			lung(1)|kidney(1)	2		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGAACCCTTCAAATTCAGAA	0.368		NaN											0	0	0	0.006214	0	10	78				
BCL9	607	broad.mit.edu	37	1	147090920	147090920	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:147090920G>A	uc001epq.2	+	8	1699	c.959G>A	c.(958-960)GGG>GAG	p.G320E	BCL9_uc010ozr.1_Missense_Mutation_p.G246E	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	320	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					GTCTCCCAGGGGAGCAATAGC	0.607		NaN	T	IGH@|IGL@	B-ALL								0	0	0	0.001984	0	7	93				
SELENBP1	8991	broad.mit.edu	37	1	151337485	151337485	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:151337485C>G	uc001exx.2	-	11	1220	c.1173G>C	c.(1171-1173)CAG>CAC	p.Q391H	SELENBP1_uc010pcy.1_Missense_Mutation_p.Q433H|SELENBP1_uc001exy.2_Missense_Mutation_p.Q288H|SELENBP1_uc001exz.2_Missense_Mutation_p.Q288H|SELENBP1_uc010pcz.1_Missense_Mutation_p.Q329H|SELENBP1_uc009wms.2_Missense_Mutation_p.Q227H|SELENBP1_uc009wmt.2_Missense_Mutation_p.Q288H|SELENBP1_uc001eya.2_Missense_Mutation_p.Q327H|SELENBP1_uc009wmu.2_Missense_Mutation_p.A260P	NM_003944	NP_003935	Q13228	SBP1_HUMAN	selenium binding protein 1	391					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding				0	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGGCTGAGCTGGATCATCT	0.567		NaN											0	0	0	0.004672	0	3	7				
THBS3	7059	broad.mit.edu	37	1	155170384	155170384	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:155170384G>T	uc001fix.2	-	14	1589	c.1566C>A	c.(1564-1566)TTC>TTA	p.F522L	RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.F513L|THBS3_uc001fiz.2_Missense_Mutation_p.F485L|THBS3_uc001fiy.2_Missense_Mutation_p.F51L|THBS3_uc010pfu.1_Missense_Mutation_p.F402L|THBS3_uc010pfv.1_Intron|THBS3_uc001fja.2_RNA	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	522	TSP type-3 2.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTTTGTTGGGGAACAGCCGGC	0.517		NaN											1	0	1.58986e-06	0.008291	1.76115e-06	10	76				
FCRL5	83416	broad.mit.edu	37	1	157514143	157514143	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:157514143C>G	uc001fqu.2	-	5	911	c.753G>C	c.(751-753)TGG>TGC	p.W251C	FCRL5_uc009wsm.2_Missense_Mutation_p.W251C|FCRL5_uc010phv.1_Missense_Mutation_p.W251C|FCRL5_uc010phw.1_Missense_Mutation_p.W166C|FCRL5_uc001fqv.1_Missense_Mutation_p.W251C|FCRL5_uc010phx.1_Missense_Mutation_p.W2C	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	251	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AATCTTTACTCCACATGGCAG	0.512		NaN											0	0	0	0.001855	0	13	171				
FCRL3	115352	broad.mit.edu	37	1	157667580	157667580	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:157667580C>G	uc001frb.2	-	5	720	c.428G>C	c.(427-429)AGT>ACT	p.S143T	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.S143T|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Missense_Mutation_p.S143T	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	143	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					TAAATTATAACTATTAGGAAG	0.348		NaN											0	0	0	0.003163	0	15	114				
KIRREL	55243	broad.mit.edu	37	1	158059372	158059372	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:158059372G>T	uc001frn.3	+	9	1529	c.1125G>T	c.(1123-1125)GTG>GTT	p.V375V	KIRREL_uc010pib.1_Silent_p.V275V|KIRREL_uc009wsq.2_Silent_p.V211V|KIRREL_uc001fro.3_Silent_p.V189V	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	375	Extracellular (Potential).|Ig-like C2-type 4.					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					GGGCCATCGTGCCTCGAATCG	0.637		NaN											1	0	1.56452e-12	0.007413	1.84522e-12	18	36				
CADM3	57863	broad.mit.edu	37	1	159166681	159166681	+	Silent	SNP	C	C	G	rs149370954	by1000genomes	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:159166681C>G	uc001ftl.2	+	7	925	c.783C>G	c.(781-783)GTC>GTG	p.V261V	CADM3_uc009wsy.1_Silent_p.V215V|CADM3_uc001ftk.2_Silent_p.V295V|uc001ftm.1_RNA	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	261	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					GCCTCGACAGCCCCCAGCAGT	0.517		NaN											0	0	0	0.000602	0	5	53				
SLAMF9	89886	broad.mit.edu	37	1	159923348	159923348	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:159923348C>T	uc001fus.2	-	2	259	c.142G>A	c.(142-144)GAA>AAA	p.E48K	SLAMF9_uc009wtd.2_Missense_Mutation_p.E48K|SLAMF9_uc001fut.2_Missense_Mutation_p.E48K	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	SLAM family member 9 isoform 1	48	Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCAACCTCTTCATCTGGTGGT	0.532		NaN											0	0	0	0.008291	0	9	83				
PEX19	5824	broad.mit.edu	37	1	160253381	160253381	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:160253381G>A	uc001fvs.2	-	2	146	c.119C>T	c.(118-120)TCT>TTT	p.S40F	DCAF8_uc010pjc.1_Intron|PEX19_uc010pje.1_RNA|PEX19_uc001fvt.2_Intron	NM_002857	NP_002848	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19 isoform a	40	Necessary for PEX19 function on peroxisome biogenesis.|Docking to the peroxisome membrane and binding to PEX3.				peroxisome membrane biogenesis|peroxisome organization|protein targeting to peroxisome|transmembrane transport	brush border membrane|cytosol|integral to membrane|nucleus|peroxisomal membrane	protein binding|protein N-terminus binding				0	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGTGGTGGTAGAAGGGGGTGC	0.547		NaN											0	0	0	0.013537	0	11	40				
VANGL2	57216	broad.mit.edu	37	1	160395046	160395046	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:160395046C>T	uc001fwb.1	+	9	1743	c.1444C>T	c.(1444-1446)CGC>TGC	p.R482C	VANGL2_uc001fwc.1_Missense_Mutation_p.R482C	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	482	Cytoplasmic (Potential).				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTCTTAAAACGCCAGGACTT	0.532		NaN											0	0	0	0.009096	0	4	59				
LY9	4063	broad.mit.edu	37	1	160769632	160769632	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:160769632G>A	uc001fwu.2	+	2	264	c.214G>A	c.(214-216)GAC>AAC	p.D72N	LY9_uc001fwt.2_Missense_Mutation_p.D72N|LY9_uc010pjs.1_Missense_Mutation_p.D72N|LY9_uc001fwv.2_Missense_Mutation_p.D72N|LY9_uc001fww.2_Missense_Mutation_p.D72N|LY9_uc001fwx.2_Missense_Mutation_p.D72N|LY9_uc001fwy.1_5'UTR	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9 isoform a	72	Extracellular (Potential).|Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CATCTCAGTAGACACAGAGAT	0.493		NaN											0	0	0	0.006214	0	10	77				
ATF6	22926	broad.mit.edu	37	1	161928235	161928235	+	Splice_Site	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:161928235G>A	uc001gbr.2	+	16	1872	c.1805_splice	c.e16-1	p.E602_splice	ATF6_uc001gbs.2_5'Flank	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6						positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			CCTGTCTGCAGAGAATGTGAT	0.433		NaN											0	0	0	0.001984	0	7	90				
FMO3	2328	broad.mit.edu	37	1	171073096	171073096	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:171073096G>A	uc001ghi.2	+	3	414	c.303G>A	c.(301-303)CTG>CTA	p.L101L	FMO3_uc001ghh.2_Silent_p.L101L|FMO3_uc010pmb.1_Silent_p.L81L|FMO3_uc010pmc.1_Intron|MIR1295_hsa-mir-1295|MI0006357_5'Flank	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	101					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAACCTCCTGAAGTACATAC	0.378		NaN											0	0	0	0.010729	0	12	55				
TNN	63923	broad.mit.edu	37	1	175052985	175052985	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:175052985T>A	uc001gkl.1	+	5	1261	c.1148T>A	c.(1147-1149)CTG>CAG	p.L383Q	TNN_uc010pmx.1_Missense_Mutation_p.L383Q	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	383	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TACTACAAGCTGCGATATGGC	0.552		NaN											0	0	0	0.001168	0	6	80				
ASTN1	460	broad.mit.edu	37	1	177133537	177133537	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:177133537G>A	uc001glc.2	-	1	488	c.276C>T	c.(274-276)TTC>TTT	p.F92F	ASTN1_uc001glb.1_Silent_p.F92F|ASTN1_uc001gld.1_Silent_p.F92F|ASTN1_uc009wwx.1_Silent_p.F92F	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	92					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						CACCCAGCACGAAGTAGGGCA	0.692		NaN											0	0	0	0.009096	0	4	15				
CACNA1E	777	broad.mit.edu	37	1	181754895	181754895	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:181754895A>T	uc001gow.2	+	43	5891	c.5726A>T	c.(5725-5727)CAG>CTG	p.Q1909L	CACNA1E_uc009wxs.2_Missense_Mutation_p.Q1797L|CACNA1E_uc009wxt.2_Missense_Mutation_p.Q1135L	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1909	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TCTCTGCCTCAGGAGATCATT	0.507		NaN											0	0	0	0.008871	0	20	248				
C1orf25	81627	broad.mit.edu	37	1	185113039	185113039	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:185113039G>C	uc001grf.3	-	6	1050	c.778C>G	c.(778-780)CGG>GGG	p.R260G	C1orf25_uc010pon.1_Missense_Mutation_p.R104G	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	260						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0						TTATCTTACCGATTTAGTTTC	0.303		NaN											0	0	0	0.00308	0	8	34				
HMCN1	83872	broad.mit.edu	37	1	186045614	186045614	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:186045614G>T	uc001grq.1	+	54	8574	c.8345G>T	c.(8344-8346)AGG>ATG	p.R2782M		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2782	Ig-like C2-type 26.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GATACTGGCAGGAATGGTGAA	0.413		NaN											1	0	1.23904e-05	0.000602	1.34649e-05	5	85				
CHIT1	1118	broad.mit.edu	37	1	203188877	203188877	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:203188877G>T	uc001gzn.2	-	8	926	c.830C>A	c.(829-831)TCA>TAA	p.S277*	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_Nonsense_Mutation_p.S68*|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Nonsense_Mutation_p.S268*	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	277					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0						TCTGGTGTCTGATGAGGAGGC	0.597		NaN											1	0	0.000673444	0.008291	0.00070694	11	54				
CNTN2	6900	broad.mit.edu	37	1	205027351	205027351	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:205027351C>T	uc001hbr.2	+	4	527	c.258C>T	c.(256-258)TCC>TCT	p.S86S	CNTN2_uc001hbq.1_5'UTR|CNTN2_uc009xbi.2_5'UTR|CNTN2_uc001hbs.2_5'Flank	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	86	Ig-like C2-type 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGCCAGGTTCCCGTCACCAGC	0.632		NaN											0	0	0	0.009096	0	4	25				
NUAK2	81788	broad.mit.edu	37	1	205290642	205290642	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:205290642C>A	uc001hce.2	-	1	242	c.115G>T	c.(115-117)GCG>TCG	p.A39S		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	39					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)	5	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGCTTCACCGCCTGCTTCTTC	0.667		NaN											1	0	0.00909568	0.009096	0.00935222	4	19				
PIGR	5284	broad.mit.edu	37	1	207110743	207110743	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:207110743C>G	uc001hez.2	-	4	926	c.742G>C	c.(742-744)GAC>CAC	p.D248H	PIGR_uc009xbz.2_Missense_Mutation_p.D248H	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	248	Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CCCCTCAGGTCTTCATAAACC	0.547		NaN											0	0	0	0.010729	0	12	68				
C1orf116	79098	broad.mit.edu	37	1	207200869	207200869	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:207200869C>A	uc001hfd.2	-	2	334	c.75G>T	c.(73-75)ATG>ATT	p.M25I	C1orf116_uc009xcb.1_Intron	NM_023938	NP_076427	Q9BW04	SARG_HUMAN	specifically androgen-regulated protein isoform	25						cytoplasm|plasma membrane	receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Prostate(682;0.19)					TGCTGCTCATCATGCTGTCAC	0.542		NaN											1	0	3.59834e-05	0.001168	3.88931e-05	6	51				
IRF6	3664	broad.mit.edu	37	1	209974736	209974736	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:209974736A>T	uc001hhq.1	-	3	286	c.23T>A	c.(22-24)GTC>GAC	p.V8D	IRF6_uc010psm.1_Intron|IRF6_uc009xct.1_Missense_Mutation_p.V8D	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6	8	IRF tryptophan pentad repeat.				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CTTTAGCCGGACTCTGCGGGG	0.597		NaN								HNSCC(57;0.16)			0	0	0	0.003163	0	16	56				
PROX1	5629	broad.mit.edu	37	1	214185050	214185050	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:214185050G>A	uc001hkh.2	+	4	2292	c.2020G>A	c.(2020-2022)GAC>AAC	p.D674N		NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	674	Prospero-like.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TAAAGCAAATGACTTTGAGGT	0.368		NaN											0	0	0	0.010771	0	46	60				
TP53BP2	7159	broad.mit.edu	37	1	223994610	223994610	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:223994610G>A	uc010pvb.1	-	5	704	c.412C>T	c.(412-414)CAG>TAG	p.Q138*	TP53BP2_uc001hod.2_Nonsense_Mutation_p.Q9*	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	132	Gln-rich.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		GCCATTTCCTGAAGTTCAGCA	0.368		NaN											0	0	0	0.003755	0	36	76				
WDR26	80232	broad.mit.edu	37	1	224599169	224599169	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:224599169C>G	uc001hop.3	-	7	1043	c.677G>C	c.(676-678)GGA>GCA	p.G226A	WDR26_uc001hoq.3_Missense_Mutation_p.G210A|WDR26_uc010pvh.1_5'UTR	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	WD repeat domain 26 isoform a	373	WD 1.					cytoplasm|nucleus					0				GBM - Glioblastoma multiforme(131;0.0104)		ATCTTTTGATCCTGTTGCTAG	0.368		NaN											0	0	0	0.000602	0	5	68				
PCNXL2	80003	broad.mit.edu	37	1	233120095	233120095	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:233120095G>T	uc001hvl.2	-	34	6604	c.6369C>A	c.(6367-6369)GGC>GGA	p.G2123G	PCNXL2_uc001hvk.1_3'UTR|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	2123						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				TGTCGTCCAGGCCCATGTCCT	0.667		NaN											1	0	0.00024832	0.009096	0.000263429	4	25				
FH	2271	broad.mit.edu	37	1	241665791	241665791	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:241665791G>T	uc001hyx.2	-	8	1220	c.1188C>A	c.(1186-1188)GTC>GTA	p.V396V		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	396					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TGCTGCCTCCGACAGTGACAG	0.413		NaN	Mis|N|F			lieomyomatosis|renal			Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer				1	0	2.32078e-09	0.003163	2.67424e-09	15	60				
CHML	1122	broad.mit.edu	37	1	241798263	241798263	+	Missense_Mutation	SNP	C	C	T	rs148967774		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:241798263C>T	uc001hzd.2	-	1	970	c.806G>A	c.(805-807)CGG>CAG	p.R269Q	OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	choroideremia-like Rab escort protein 2	269					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	p.R269R(1)		ovary(4)|skin(2)	6	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CTTTCCTTCCCGAAATGCAAG	0.353		NaN											0	0	0	0.00245	0	15	68				
ECHDC3	79746	broad.mit.edu	37	10	11789413	11789413	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:11789413A>C	uc001ikw.3	+	2	456	c.236A>C	c.(235-237)CAA>CCA	p.Q79P	ECHDC3_uc009xix.2_5'UTR	NM_024693	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl Coenzyme A hydratase domain containing 3	79						mitochondrion	catalytic activity				0						AAGTCTCTCCAAAGTGACATT	0.438		NaN											0	0	0	0.014323	0	17	99				
ANKRD26	22852	broad.mit.edu	37	10	27389109	27389109	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:27389109C>G	uc001ith.2	-	1	319	c.147G>C	c.(145-147)AAG>AAC	p.K49N	ANKRD26_uc009xku.1_Missense_Mutation_p.K49N	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	49	ANK 1.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						CTTTGTGGATCTTGCCGAGAT	0.622		NaN											0	0	0	0.013726	0	32	76				
ZNF37A	7587	broad.mit.edu	37	10	38407718	38407718	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:38407718G>C	uc001izk.2	+	8	2458	c.1639G>C	c.(1639-1641)GGG>CGG	p.G547R	ZNF37A_uc001izl.2_Missense_Mutation_p.G547R|ZNF37A_uc001izm.2_Missense_Mutation_p.G547R	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN	zinc finger protein 37a	547						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)	1						AATACACTTGGGGAGAAACCC	0.363		NaN											0	0	0	0.004482	0	9	38				
CHAT	1103	broad.mit.edu	37	10	50854654	50854654	+	Silent	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:50854654C>G	uc001jhz.2	+	8	1368	c.1215C>G	c.(1213-1215)CTC>CTG	p.L405L	CHAT_uc001jhv.1_Silent_p.L287L|CHAT_uc001jhx.1_Silent_p.L287L|CHAT_uc001jhy.1_Silent_p.L287L|CHAT_uc001jia.2_Silent_p.L287L|CHAT_uc010qgs.1_Silent_p.L287L	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	405					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	ACAGGGCACTCCAGCTCCTTC	0.637		NaN											0	0	0	0.001855	0	14	43				
PRKG1	5592	broad.mit.edu	37	10	54048534	54048534	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:54048534G>C	uc001jjm.2	+	15	1907	c.1713G>C	c.(1711-1713)TTG>TTC	p.L571F	PRKG1_uc001jjo.2_Missense_Mutation_p.L586F|PRKG1_uc009xow.1_Missense_Mutation_p.L289F|uc001jjq.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	571	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ACATCATATTGAGGGGGATTG	0.343		NaN											0	0	0	0.000602	0	5	64				
PCDH15	65217	broad.mit.edu	37	10	56138648	56138648	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:56138648G>C	uc001jju.1	-	4	607	c.212C>G	c.(211-213)CCC>CGC	p.P71R	PCDH15_uc010qhq.1_Missense_Mutation_p.P76R|PCDH15_uc010qhr.1_Missense_Mutation_p.P71R|PCDH15_uc010qhs.1_Missense_Mutation_p.P76R|PCDH15_uc010qht.1_Missense_Mutation_p.P71R|PCDH15_uc010qhu.1_Missense_Mutation_p.P71R|PCDH15_uc001jjv.1_Missense_Mutation_p.P49R|PCDH15_uc010qhv.1_Missense_Mutation_p.P71R|PCDH15_uc010qhw.1_Missense_Mutation_p.P71R|PCDH15_uc010qhx.1_Missense_Mutation_p.P71R|PCDH15_uc010qhy.1_Missense_Mutation_p.P76R|PCDH15_uc010qhz.1_Missense_Mutation_p.P71R|PCDH15_uc010qia.1_Missense_Mutation_p.P49R|PCDH15_uc010qib.1_Missense_Mutation_p.P49R|PCDH15_uc001jjw.2_Missense_Mutation_p.P71R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	71	Cadherin 1.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCTATGGTGGGGTCTGGTCC	0.423		NaN								HNSCC(58;0.16)			0	0	0	0.00308	0	8	149				
ANK3	288	broad.mit.edu	37	10	61832871	61832871	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:61832871C>T	uc001jky.2	-	37	7960	c.7768G>A	c.(7768-7770)GAA>AAA	p.E2590K	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2590					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TGTGACACTTCAGTCAGTTTT	0.418		NaN											0	0	0	0.004656	0	28	81				
TET1	80312	broad.mit.edu	37	10	70405499	70405499	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:70405499C>G	uc001jok.3	+	4	3518	c.3013C>G	c.(3013-3015)CTT>GTT	p.L1005V		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1005					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						TTCATTATCTCTTTTTATACC	0.338		NaN											0	0	0	0.001168	0	6	62				
GRID1	2894	broad.mit.edu	37	10	88123752	88123752	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:88123752T>C	uc001kdl.1	-	2	282	c.181A>G	c.(181-183)ACC>GCC	p.T61A	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	61	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	ATGGAGTAGGTGATCTTCTCG	0.602		NaN								Multiple Myeloma(13;0.14)			0	0	0	0.00308	0	8	37				
ZNF518A	9849	broad.mit.edu	37	10	97919613	97919613	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:97919613G>C	uc001klp.2	+	6	4391	c.3534G>C	c.(3532-3534)CAG>CAC	p.Q1178H	ZNF518A_uc001klo.1_Missense_Mutation_p.Q648H|ZNF518A_uc001klq.2_Missense_Mutation_p.Q1178H|ZNF518A_uc001klr.2_Missense_Mutation_p.Q1178H	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	1178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CATCTAATCAGATTATAGGAG	0.373		NaN											0	0	0	0.010729	0	11	54				
MUC5B	727897	broad.mit.edu	37	11	1151641	1151641	+	Silent	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:1151641G>C	uc009ycr.1	+	2	141	c.15G>C	c.(13-15)CGG>CGC	p.R5R		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	Error:Variant_position_missing_in_Q9HC84_after_alignment					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGTTGGCCGGAGGAAGCTGG	0.662		NaN											0	0	0	0.004672	0	3	3				
PLEKHA7	144100	broad.mit.edu	37	11	16892712	16892712	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:16892712G>C	uc001mmo.2	-	4	254	c.239C>G	c.(238-240)ACA>AGA	p.T80R	PLEKHA7_uc010rcu.1_Missense_Mutation_p.T80R	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	80	WW 2.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						CCTGAATGCTGTGGTCTGCTG	0.428		NaN											0	0	0	0.001984	0	6	32				
WT1	7490	broad.mit.edu	37	11	32456366	32456366	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:32456366G>A	uc001mtn.1	-	1	722	c.526C>T	c.(526-528)CGC>TGC	p.R176C	WT1_uc001mto.1_Missense_Mutation_p.R176C|WT1_uc001mtp.1_Missense_Mutation_p.R176C|WT1_uc001mtq.1_Missense_Mutation_p.R176C|WT1_uc009yjs.1_RNA|WIT1_uc010rec.1_5'Flank|WIT1_uc010red.1_5'Flank|WIT1_uc010ree.1_5'Flank	NM_024426	NP_077744	P19544	WT1_HUMAN	Wilms tumor 1 isoform D	108					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(231)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GGCCCGTAGCGACAGGCTCCG	0.692		NaN	D|Mis|N|F|S	EWSR1	Wilms|desmoplastic small round cell tumor	Wilms			Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				0	0	0	0.001168	0	6	18				
CKAP5	9793	broad.mit.edu	37	11	46771875	46771875	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:46771875G>C	uc001ndi.1	-	42	5763	c.5653C>G	c.(5653-5655)CGG>GGG	p.R1885G	CKAP5_uc009ylg.1_Missense_Mutation_p.R1778G|CKAP5_uc001ndj.1_Missense_Mutation_p.R1825G|CKAP5_uc001ndh.1_Missense_Mutation_p.R814G	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	1885					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						TCAATCACCCGAAGGCCTCTT	0.413		NaN											0	0	0	0.006122	0	18	69				
P2RX3	5024	broad.mit.edu	37	11	57118338	57118338	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:57118338G>A	uc001nju.2	+	8	884	c.808G>A	c.(808-810)GAG>AAG	p.E270K		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	270	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						CAGCGTTTCTGAGAAAAGCAG	0.552		NaN											0	0	0	0.010729	0	11	36				
C11orf9	745	broad.mit.edu	37	11	61543557	61543557	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:61543557C>T	uc001nsc.1	+	9	1437	c.1341C>T	c.(1339-1341)ATC>ATT	p.I447I	C11orf9_uc001nse.1_Silent_p.I438I|C11orf9_uc010rll.1_5'Flank	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	447	NDT80.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						CCATTAACATCGAGCAGTCCC	0.622		NaN											0	0	0	0.000602	0	5	64				
AHNAK	79026	broad.mit.edu	37	11	62287326	62287326	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:62287326C>A	uc001ntl.2	-	5	14863	c.14563G>T	c.(14563-14565)GAC>TAC	p.D4855Y	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4855					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				AAATCCAGGTCAACATCAGGT	0.433		NaN											1	0	2.89027e-11	0.014323	3.39882e-11	24	91				
VEGFB	7423	broad.mit.edu	37	11	64004936	64004936	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:64004936G>A	uc001nyw.2	+	6	495	c.455G>A	c.(454-456)GGC>GAC	p.G152D	VEGFB_uc001nyx.2_Intron	NM_003377	NP_003368	P49765	VEGFB_HUMAN	vascular endothelial growth factor B precursor	152					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding				0						TCTGTTCCGGGCTGGGACTCT	0.682		NaN											0	0	0	0.000602	0	5	24				
FAU	2197	broad.mit.edu	37	11	64889260	64889260	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:64889260T>A	uc001ocx.2	-	2	133	c.26A>T	c.(25-27)GAG>GTG	p.E9V	FAU_uc001ocy.1_Missense_Mutation_p.E9V|MRPL49_uc001ocz.1_5'Flank|MRPL49_uc001oda.1_5'Flank	NM_001997	NP_001988	P35544	UBIM_HUMAN	ubiquitin-like protein fubi and ribosomal	9											0						GGTGTGTAGCTCCTGGGCGCG	0.527		NaN											0	0	0	0.000602	0	5	42				
ACY3	91703	broad.mit.edu	37	11	67412565	67412565	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:67412565C>G	uc001omq.2	-	6	756	c.585G>C	c.(583-585)ATG>ATC	p.M195I		NM_080658	NP_542389	Q96HD9	ACY3_HUMAN	aspartoacylase 3	195					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding				0					L-Aspartic Acid(DB00128)	CCAGGGTCCTCATCCTTGAGA	0.612		NaN											0	0	0	0.012213	0	32	98				
ACY3	91703	broad.mit.edu	37	11	67412598	67412598	+	Missense_Mutation	SNP	C	C	A	rs142720670		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:67412598C>A	uc001omq.2	-	6	723	c.552G>T	c.(550-552)CAG>CAT	p.Q184H		NM_080658	NP_542389	Q96HD9	ACY3_HUMAN	aspartoacylase 3	184					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding				0					L-Aspartic Acid(DB00128)	GCAGCACACCCTGTGGCTGGG	0.602		NaN											1	0	1.10513e-12	0.014323	1.30725e-12	24	82				
IGHMBP2	3508	broad.mit.edu	37	11	68682376	68682376	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:68682376G>A	uc001ook.1	+	6	899	c.797G>A	c.(796-798)GGA>GAA	p.G266E	IGHMBP2_uc001ooj.1_RNA	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	266	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGCGCCTGGGACACCCTGCC	0.612		NaN											0	0	0	0.008291	0	10	64				
MED17	9440	broad.mit.edu	37	11	93540715	93540715	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:93540715G>C	uc001pem.3	+	10	1773	c.1498G>C	c.(1498-1500)GAG>CAG	p.E500Q		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	500					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TATTGGAGTTGAGCAGATTCG	0.338		NaN											0	0	0	0.014323	0	21	53				
MAML2	84441	broad.mit.edu	37	11	95712801	95712801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:95712801C>A	uc001pfw.1	-	5	4067	c.2782G>T	c.(2782-2784)GGA>TGA	p.G928*		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	928					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCAACAGATCCAGCTCCAAAA	0.413		NaN	T	MECT1|CRTC3	salivary gland mucoepidermoid								1	0	5.50884e-06	0.013537	6.03564e-06	12	62				
ATM	472	broad.mit.edu	37	11	108192066	108192066	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:108192066A>G	uc001pkb.1	+	45	6876	c.6491A>G	c.(6490-6492)GAG>GGG	p.E2164G	ATM_uc009yxr.1_Missense_Mutation_p.E2164G|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.E816G|ATM_uc001pkg.1_Missense_Mutation_p.E521G	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2164	FAT.		E -> K (in T-prolymphocytic leukemia).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.E2164K(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CGCAGCCTTGAGTCTGTGTAT	0.413		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	0.006214	0	10	78		Valid		
DSCAML1	57453	broad.mit.edu	37	11	117342611	117342611	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:117342611C>G	uc001prh.1	-	15	3108	c.3106G>C	c.(3106-3108)GAG>CAG	p.E1036Q		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	976	Extracellular (Potential).|Fibronectin type-III 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATGGTGAGCTCCTTGCTTGGT	0.592		NaN											0	0	0	0.012319	0	21	32				
CBL	867	broad.mit.edu	37	11	119142469	119142469	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:119142469C>T	uc001pwe.2	+	3	606	c.468C>T	c.(466-468)CTC>CTT	p.L156L		NM_005188	NP_005179	P22681	CBL_HUMAN	Cas-Br-M (murine) ecotropic retroviral	156	Cbl-PTB.|4H.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		AACTGTCCCTCATCTTCAGCC	0.368		NaN							CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome				0	0	0	0.010818	0	33	49				
MFRP	83552	broad.mit.edu	37	11	119216324	119216324	+	Silent	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:119216324A>C	uc001pwj.2	-	5	607	c.447T>G	c.(445-447)TCT>TCG	p.S149S	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Silent_p.S149S	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CCCTTGGGCCAGAGAGGAGGC	0.572		NaN											0	0	0	0.004482	0	8	45				
OR8B4	283162	broad.mit.edu	37	11	124294104	124294104	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:124294104A>G	uc010sak.1	-	1	664	c.664T>C	c.(664-666)TCC>CCC	p.S222P		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	222	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGGATGTTGGAGAGTATCAAA	0.468		NaN											0	0	0	0.00245	0	14	29				
VSIG2	23584	broad.mit.edu	37	11	124621381	124621381	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:124621381C>A	uc001qas.2	-	2	233	c.157G>T	c.(157-159)GAC>TAC	p.D53Y	VSIG2_uc001qat.2_Missense_Mutation_p.D53Y	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	53	Extracellular (Potential).|Ig-like V-type.					integral to plasma membrane|membrane fraction				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GCGAAGCTGTCTCCCACCGAC	0.637		NaN											1	0	0.00448238	0.004482	0.00466866	8	52				
AKAP3	10566	broad.mit.edu	37	12	4735736	4735736	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:4735736G>A	uc001qnb.3	-	4	2561	c.2332C>T	c.(2332-2334)CAA>TAA	p.Q778*		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	778					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						GCTACCCATTGAAGGACGGCT	0.493		NaN											0	0	0	0.000602	0	5	71				
CHD4	1108	broad.mit.edu	37	12	6703629	6703629	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:6703629T>C	uc001qpo.2	-	15	2473	c.2309A>G	c.(2308-2310)AAG>AGG	p.K770R	CHD4_uc001qpn.2_Missense_Mutation_p.K763R|CHD4_uc001qpp.2_Missense_Mutation_p.K767R	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	770	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCTTACCTCCTTGTAAAGGGA	0.448		NaN											0	0	0	0.010729	0	12	47				
GYS2	2998	broad.mit.edu	37	12	21693375	21693375	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:21693375G>A	uc001rfb.2	-	14	2033	c.1778C>T	c.(1777-1779)TCA>TTA	p.S593L		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	593					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			lung(1)|skin(1)	2						CAGAAGATCTGAGAGCCTCTC	0.403		NaN											0	0	0	0.004656	0	26	160				
IPO8	10526	broad.mit.edu	37	12	30833434	30833434	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:30833434G>C	uc001rjd.2	-	5	791	c.621C>G	c.(619-621)ATC>ATG	p.I207M		NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	207					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GTGCATAAAAGATTTTCAGAA	0.289		NaN											0	0	0	0.004482	0	9	56				
ARID2	196528	broad.mit.edu	37	12	46243532	46243532	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:46243532G>C	uc001ros.1	+	14	1885	c.1885G>C	c.(1885-1887)GAT>CAT	p.D629H	ARID2_uc001ror.2_Missense_Mutation_p.D629H|ARID2_uc009zkg.1_Missense_Mutation_p.D85H|ARID2_uc009zkh.1_Missense_Mutation_p.D256H|ARID2_uc001rou.1_5'Flank	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	629					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCTGTTCCTGATGTATCTCC	0.343		NaN											0	0	0	0.003271	0	36	158		Valid		
ARID2	196528	broad.mit.edu	37	12	46245434	46245434	+	Silent	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:46245434T>C	uc001ros.1	+	15	3528	c.3528T>C	c.(3526-3528)GTT>GTC	p.V1176V	ARID2_uc001ror.2_Silent_p.V1176V|ARID2_uc009zkg.1_Silent_p.V632V|ARID2_uc009zkh.1_Silent_p.V803V|ARID2_uc001rou.1_Silent_p.V510V	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1176					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCATAACAGTTGTGCCAAATA	0.478		NaN											0	0	0	0.006214	0	10	76				
ZNF641	121274	broad.mit.edu	37	12	48737057	48737057	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:48737057T>C	uc001rrn.1	-	6	1181	c.1016A>G	c.(1015-1017)CAG>CGG	p.Q339R	ZNF641_uc001rro.1_Missense_Mutation_p.Q325R|ZNF641_uc010sls.1_Missense_Mutation_p.Q316R	NM_152320	NP_689533	Q96N77	ZN641_HUMAN	zinc finger protein 641	339	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						ATGCACTCTCTGGTGGCTGGC	0.557		NaN											0	0	0	0.003954	0	25	81				
C12orf54	121273	broad.mit.edu	37	12	48879982	48879982	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:48879982G>C	uc001rrr.2	+	2	144	c.87G>C	c.(85-87)ATG>ATC	p.M29I	C12orf54_uc009zky.1_RNA	NM_152319	NP_689532	Q6X4T0	CL054_HUMAN	hypothetical protein LOC121273	29											0						AAGAGACAATGAGACCACAGG	0.458		NaN											0	0	0	0.001855	0	12	63				
MLL2	8085	broad.mit.edu	37	12	49444981	49444981	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:49444981C>G	uc001rta.3	-	10	2485	c.2485G>C	c.(2485-2487)GAG>CAG	p.E829Q		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	829	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TGTGATTCCTCAGGTTGGGGG	0.632		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.010729	0	11	49		Valid		
HIGD1C	613227	broad.mit.edu	37	12	51347856	51347856	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:51347856C>A	uc010smw.1	+	1	75	c.75C>A	c.(73-75)GAC>GAA	p.D25E		NM_001109619	NP_001103089	A8MV81	HIG1C_HUMAN	HIG1 domain family, member 1C	25	HIG1.|Cytoplasmic (Potential).					integral to membrane					0						AATCTAGAGACTCCCCCTTTG	0.348		NaN											1	0	0.00621372	0.006214	0.00642191	9	82				
ACVR1B	91	broad.mit.edu	37	12	52379062	52379062	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:52379062C>G	uc001rzn.2	+	6	1108	c.1066C>G	c.(1066-1068)CTG>GTG	p.L356V	ACVR1B_uc001rzl.2_Missense_Mutation_p.L356V|ACVR1B_uc001rzm.2_Missense_Mutation_p.L356V|ACVR1B_uc010snn.1_Missense_Mutation_p.L397V	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	356	Protein kinase.|Cytoplasmic (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	AGACCTGGGCCTGGCTGTCCG	0.522		NaN											0	0	0	0.00245	0	14	64				
RARG	5916	broad.mit.edu	37	12	53607931	53607931	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:53607931A>G	uc001sce.2	-	7	1210	c.725T>C	c.(724-726)GTG>GCG	p.V242A	RARG_uc001scd.2_Missense_Mutation_p.V231A|RARG_uc010sob.1_Missense_Mutation_p.V220A|RARG_uc001scf.2_Missense_Mutation_p.V242A|RARG_uc001scg.2_Missense_Mutation_p.V170A|RARG_uc010soc.1_Missense_Mutation_p.V121A|RARG_uc010sod.1_Missense_Mutation_p.V279A	NM_000966	NP_000957	P13631	RARG_HUMAN	retinoic acid receptor, gamma isoform 1	242	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|ovary(1)|lung(1)	4					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGCAAACTCCACGATCTTGAT	0.557		NaN									OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003271	0	37	122				
ESPL1	9700	broad.mit.edu	37	12	53673530	53673530	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:53673530G>A	uc001sck.2	+	12	2470	c.2379G>A	c.(2377-2379)CTG>CTA	p.L793L	ESPL1_uc001scj.2_Silent_p.L468L|ESPL1_uc010soe.1_Silent_p.L4L	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	793					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						TGCAGGCTCTGGAGGTCCTCC	0.597		NaN											0	0	0	0.006999	0	38	87				
PAWR	5074	broad.mit.edu	37	12	79986470	79986470	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:79986470G>A	uc001syx.2	-	7	1226	c.940C>T	c.(940-942)CTA>TTA	p.L314L		NM_002583	NP_002574	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	314	Leucine-zipper.				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity				0						ATGTCATCTAGGTCCTTAAGA	0.234		NaN											0	0	0	0.001984	0	6	23				
ACSS3	79611	broad.mit.edu	37	12	81648681	81648681	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:81648681G>T	uc001szl.1	+	16	2132	c.2041G>T	c.(2041-2043)GAA>TAA	p.E681*	ACSS3_uc001szm.1_Nonsense_Mutation_p.E680*|ACSS3_uc001szn.1_Nonsense_Mutation_p.E363*	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	681						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						CCACGTAGAAGAAATGCTGAA	0.308		NaN											1	0	1.12685e-05	0.004482	1.2279e-05	9	65				
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:106820975C>T	uc001tlp.2	+	13	1324	c.1102C>T	c.(1102-1104)CTT>TTT	p.L368F	POLR3B_uc001tlq.2_Missense_Mutation_p.L310F	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						TTTTTTTTAGCTTTTATCTCT	0.274		NaN											0	0	0	0.001984	0	5	11				
CUX2	23316	broad.mit.edu	37	12	111779715	111779715	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:111779715G>T	uc001tsa.1	+	21	3670	c.3517G>T	c.(3517-3519)GTG>TTG	p.V1173L		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1173	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						GAAGCCCCGGGTGGTGCTGGC	0.662		NaN											1	0	5.16669e-11	0.010729	6.02279e-11	12	58				
RPL6	6128	broad.mit.edu	37	12	112846122	112846122	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:112846122C>G	uc001ttu.2	-	3	487	c.258G>C	c.(256-258)GAG>GAC	p.E86D	RPL6_uc001ttv.2_Missense_Mutation_p.E86D|RPL6_uc009zwd.1_3'UTR	NM_001024662	NP_001019833	Q02878	RL6_HUMAN	ribosomal protein L6	86					endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			large_intestine(1)	1						CGAGAACCTTCTCCTTCTTTT	0.433		NaN											0	0	0	0.00245	0	15	97				
OAS2	4939	broad.mit.edu	37	12	113445538	113445538	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:113445538C>G	uc001tuj.2	+	9	1825	c.1685C>G	c.(1684-1686)TCT>TGT	p.S562C	OAS2_uc001tui.1_Missense_Mutation_p.S562C	NM_016817	NP_058197	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2 isoform 1	562	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(1)	1						CCAAAGGGGTCTTTGCCCCCA	0.547		NaN											0	0	0	0.006122	0	19	108				
SACS	26278	broad.mit.edu	37	13	23904689	23904689	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:23904689G>T	uc001uon.2	-	10	13915	c.13326C>A	c.(13324-13326)GGC>GGA	p.G4442G	SACS_uc001uoo.2_Silent_p.G4295G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4442					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		CCACTGGATTGCCAACCGACT	0.468		NaN											1	0	3.90053e-15	0.012213	4.65509e-15	29	112				
SLC7A1	6541	broad.mit.edu	37	13	30107006	30107006	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:30107006C>G	uc001uso.2	-	4	871	c.484G>C	c.(484-486)GAA>CAA	p.E162Q		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	162	Extracellular (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCGGGGTTTTCAGCCAGCACG	0.547		NaN											0	0	0	0.014323	0	21	77				
FRY	10129	broad.mit.edu	37	13	32841467	32841467	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:32841467A>C	uc001utx.2	+	55	8603	c.8107A>C	c.(8107-8109)ACA>CCA	p.T2703P	FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Missense_Mutation_p.T258P|FRY_uc001utz.2_Missense_Mutation_p.T228P|FRY_uc010tdx.1_Missense_Mutation_p.T73P	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2703					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGCTGTGTATACATTTCATGT	0.512		NaN											0	0	0	0.004482	0	8	58				
BRCA2	675	broad.mit.edu	37	13	32945213	32945213	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:32945213C>T	uc001uub.1	+	20	8835	c.8608C>T	c.(8608-8610)CAG>TAG	p.Q2870*		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2870					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CACTAAAATTCAGGAGGAATT	0.318		NaN	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			0	0	0	0.013537	0	12	51				
MAB21L1	4081	broad.mit.edu	37	13	36049441	36049441	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:36049441A>G	uc001uvc.2	-	1	1392	c.835T>C	c.(835-837)TCC>CCC	p.S279P	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	279					anatomical structure morphogenesis	nucleus				ovary(2)	2		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CACTCGTAGGAAACCAGAGTC	0.522		NaN											0	0	0	0.006214	0	10	80				
POSTN	10631	broad.mit.edu	37	13	38153448	38153448	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:38153448C>G	uc001uwo.3	-	13	1827	c.1709G>C	c.(1708-1710)GGA>GCA	p.G570A	POSTN_uc010tet.1_Missense_Mutation_p.G98A|POSTN_uc001uwp.3_Missense_Mutation_p.G570A|POSTN_uc001uwr.2_Missense_Mutation_p.G570A|POSTN_uc001uwq.2_Missense_Mutation_p.G570A|POSTN_uc010teu.1_Missense_Mutation_p.G570A|POSTN_uc010tev.1_Missense_Mutation_p.G570A|POSTN_uc010tew.1_Missense_Mutation_p.G570A|POSTN_uc010tex.1_Missense_Mutation_p.G485A	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	570	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AATGAAAACTCCTGGTGTCAG	0.318		NaN											0	0	0	0.001855	0	14	74				
INTS6	26512	broad.mit.edu	37	13	51950240	51950240	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:51950240C>G	uc001vfk.2	-	13	2287	c.1673G>C	c.(1672-1674)AGA>ACA	p.R558T	INTS6_uc001vfi.2_Missense_Mutation_p.R242T|INTS6_uc001vfj.2_Missense_Mutation_p.R545T|INTS6_uc001vfl.2_Missense_Mutation_p.R380T	NM_012141	NP_036273	Q9UL03	INT6_HUMAN	integrator complex subunit 6 isoform a	558					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			ovary(1)|lung(1)	2		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AGATCTCATTCTTGTTAAGTG	0.323		NaN											0	0	0	0.013537	0	13	28				
RNF113B	140432	broad.mit.edu	37	13	98828982	98828982	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:98828982C>T	uc001vnk.2	-	1	540	c.509G>A	c.(508-510)GGG>GAG	p.G170E	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	170							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CCTCGCCATCCCCGAGGAGGA	0.632		NaN											0	0	0	0.001984	0	7	30				
DAOA	267012	broad.mit.edu	37	13	106124975	106124975	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:106124975G>C	uc001vqb.2	+	3	496	c.222G>C	c.(220-222)CAG>CAC	p.Q74H	DAOA_uc010tjf.1_Missense_Mutation_p.Q3H|DAOA_uc001vpz.2_RNA|DAOA_uc010agd.2_RNA|DAOA_uc010tjg.1_Missense_Mutation_p.R10T|DAOA_uc001vqc.2_RNA|DAOA_uc001vqe.2_RNA	NM_172370	NP_758958	P59103	DAOA_HUMAN	D-amino acid oxidase activator isoform 1	74						Golgi apparatus					0	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					AAATGGCACAGAGGCATTTAC	0.428		NaN											0	0	0	0.001168	0	6	39				
SUPT16H	11198	broad.mit.edu	37	14	21821928	21821928	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:21821928C>T	uc001wao.2	-	24	3193	c.2854G>A	c.(2854-2856)GAA>AAA	p.E952K	SUPT16H_uc001wan.2_Missense_Mutation_p.E96K	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	952	Glu-rich (acidic).				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TAGTCATCTTCTGAAGGATTA	0.408		NaN											0	0	0	0.00308	0	7	86				
C14orf21	161424	broad.mit.edu	37	14	24769358	24769358	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:24769358C>T	uc001wol.1	+	1	261	c.198C>T	c.(196-198)CGC>CGT	p.R66R	C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.1_5'Flank|DHRS1_uc001wok.2_5'Flank	NM_174913	NP_777573	Q86U38	CN021_HUMAN	hypothetical protein LOC161424	66							RNA binding			breast(2)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(265;0.0185)		GATATTTCCGCCGGGCGCTGT	0.637		NaN											0	0	0	0.010729	0	12	92				
PELI2	57161	broad.mit.edu	37	14	56746399	56746399	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:56746399C>G	uc001xch.2	+	3	499	c.213C>G	c.(211-213)ATC>ATG	p.I71M		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	pellino 2	71					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			ovary(1)	1						attaGGCTATCAGCTGCAAAG	0.373		NaN											0	0	0	0.00245	0	15	54				
VTI1B	10490	broad.mit.edu	37	14	68129250	68129250	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:68129250C>T	uc001xjt.2	-	2	514	c.118G>A	c.(118-120)GAA>AAA	p.E40K	VTI1B_uc010aqp.2_5'UTR|VTI1B_uc001xju.2_Intron	NM_006370	NP_006361	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with	40	Potential.|Cytoplasmic (Potential).				cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane					0				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		TTCTTCTTTTCTTCTAGAAAA	0.224		NaN											0	0	0	0.001168	0	6	35				
LTBP2	4053	broad.mit.edu	37	14	75018986	75018986	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:75018986C>G	uc001xqa.2	-	6	1690	c.1303G>C	c.(1303-1305)GAC>CAC	p.D435H		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	435					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCTCCCTGTCCGGCTGCGGG	0.672		NaN											0	0	0	0.000602	0	4	51				
YLPM1	56252	broad.mit.edu	37	14	75230761	75230761	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:75230761C>G	uc001xqj.3	+	1	693	c.569C>G	c.(568-570)TCC>TGC	p.S190C		NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCTCAGCCGTCCCCTTCGCAG	0.597		NaN											0	0	0	0.004482	0	8	42				
ATXN3	4287	broad.mit.edu	37	14	92537344	92537344	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:92537344G>T	uc001yac.3	-	10	995	c.926C>A	c.(925-927)TCA>TAA	p.S309*	ATXN3_uc010aug.2_Nonsense_Mutation_p.S294*|ATXN3_uc001yad.3_Nonsense_Mutation_p.S254*|ATXN3_uc010auh.2_Nonsense_Mutation_p.S243*|ATXN3_uc001yae.3_Nonsense_Mutation_p.S211*	NM_004993	NP_004984	P54252	ATX3_HUMAN	ataxin 3 reference isoform	309					cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		ACTCTGTCCTGATAGGTCCCC	0.343		NaN											1	0	2.47511e-08	0.008361	2.82769e-08	32	39				
BTBD7	55727	broad.mit.edu	37	14	93709011	93709011	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:93709011C>A	uc001ybo.2	-	11	3333	c.3007G>T	c.(3007-3009)GAA>TAA	p.E1003*	BTBD7_uc010aur.2_Nonsense_Mutation_p.E528*|BTBD7_uc010two.1_Nonsense_Mutation_p.E823*|BTBD7_uc001ybp.2_Nonsense_Mutation_p.E652*	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	1003										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CTAGCTTCTTCCTGTTTTTTA	0.493		NaN											1	0	2.5401e-28	0.01441	3.05879e-28	59	87				
C15orf2	23742	broad.mit.edu	37	15	24922473	24922473	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:24922473G>T	uc001ywo.2	+	1	1933	c.1459G>T	c.(1459-1461)GTC>TTC	p.V487F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	487	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TTATAATTCAGTCGTAGGAGC	0.507		NaN											1	0	8.34094e-07	0.008871	9.29088e-07	21	167				
NDUFAF1	51103	broad.mit.edu	37	15	41687143	41687143	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:41687143C>A	uc001znx.2	-	3	1055	c.673G>T	c.(673-675)GAG>TAG	p.E225*	NDUFAF1_uc010bcf.2_RNA	NM_016013	NP_057097	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	225					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			ovary(1)	1		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		TCTGTGTCCTCCTTGATATTC	0.488		NaN											1	0	3.07112e-06	0.010729	3.39261e-06	12	39				
TP53BP1	7158	broad.mit.edu	37	15	43738684	43738684	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:43738684C>T	uc001zrs.2	-	14	3074	c.2926G>A	c.(2926-2928)GGG>AGG	p.G976R	TP53BP1_uc010udp.1_Missense_Mutation_p.G976R|TP53BP1_uc001zrq.3_Missense_Mutation_p.G981R|TP53BP1_uc001zrr.3_Missense_Mutation_p.G981R|TP53BP1_uc010udq.1_Missense_Mutation_p.G981R	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	976					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGGGCAGCCCCAGAATCCCCT	0.473		NaN						Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					0	0	0	0.009535	0	29	76				
DUT	1854	broad.mit.edu	37	15	48626677	48626677	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:48626677G>A	uc001zws.2	+	3	575	c.483G>A	c.(481-483)GCG>GCA	p.A161A	DUT_uc001zwt.2_Silent_p.A50A|DUT_uc001zwu.2_RNA|DUT_uc001zwv.2_Silent_p.A73A|DUT_uc001zww.2_Silent_p.A73A|uc010ben.1_5'Flank	NM_001025248	NP_001020419	P33316	DUT_HUMAN	deoxyuridine triphosphatase isoform 1 precursor	161					DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding				0		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		TTCAGATAGCGCTCCCTTCTG	0.363		NaN						Modulation_of_nucleotide_pools					0	0	0	0.001168	0	6	39				
C15orf33	196951	broad.mit.edu	37	15	49800544	49800544	+	Silent	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:49800544A>C	uc001zxl.2	-	11	1170	c.876T>G	c.(874-876)GGT>GGG	p.G292G	C15orf33_uc001zxm.2_Silent_p.G258G	NM_152647	NP_689860	Q96M60	CO033_HUMAN	hypothetical protein LOC196951	292										ovary(1)	1		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		GAGGTTTTAAACCTGTTAATA	0.303		NaN											0	0	0	0.001168	0	6	44				
AP4E1	23431	broad.mit.edu	37	15	51289655	51289655	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:51289655G>A	uc001zyx.1	+	18	2509	c.2479G>A	c.(2479-2481)GAA>AAA	p.E827K	AP4E1_uc010bex.1_RNA	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	827					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TGTGGCATATGAAGATGATTA	0.353		NaN											0	0	0	0.004482	0	9	55				
KIAA1370	56204	broad.mit.edu	37	15	52902491	52902491	+	Missense_Mutation	SNP	A	A	G	rs61731677	by1000genomes	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:52902491A>G	uc002acg.3	-	6	773	c.620T>C	c.(619-621)GTT>GCT	p.V207A	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.V119A|KIAA1370_uc010ugf.1_Missense_Mutation_p.V214A	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	207				V -> A (in Ref. 2; BAF85606).							0				all cancers(107;0.0803)		TTTCAAGGCAACATTGTGAGA	0.393		NaN											0	0	0	0.009096	0	4	64				
MPI	4351	broad.mit.edu	37	15	75190013	75190013	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:75190013C>T	uc002azc.1	+	8	1219	c.1214C>T	c.(1213-1215)TCA>TTA	p.S405L	MPI_uc002azd.1_3'UTR|MPI_uc010ulx.1_Missense_Mutation_p.S355L|MPI_uc002aze.1_Missense_Mutation_p.S344L	NM_002435	NP_002426	P34949	MPI_HUMAN	mannose-6- phosphate isomerase	405					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			ovary(2)	2						GAGAGTGTCTCACTGAAGCTT	0.562		NaN											0	0	0	0.009096	0	4	46				
FAH	2184	broad.mit.edu	37	15	80467381	80467381	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:80467381G>T	uc002bfj.2	+	11	943	c.861G>T	c.(859-861)CTG>CTT	p.L287L	FAH_uc002bfk.1_Silent_p.L287L|FAH_uc002bfm.1_Silent_p.L287L|FAH_uc002bfn.1_Silent_p.L217L|FAH_uc010bln.1_5'Flank|FAH_uc010blo.1_5'Flank	NM_000137	NP_000128	P16930	FAAA_HUMAN	fumarylacetoacetase	287					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding				0						TGCCGTATCTGTGCCATGACG	0.587		NaN							Tyrosinemia_type_1				1	0	1.12685e-05	0.004482	1.2279e-05	8	47				
AKAP13	11214	broad.mit.edu	37	15	86273898	86273898	+	Silent	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:86273898T>A	uc002blv.1	+	30	7412	c.7242T>A	c.(7240-7242)GCT>GCA	p.A2414A	AKAP13_uc002blu.1_Silent_p.A2418A|AKAP13_uc002blw.1_Silent_p.A879A|AKAP13_uc002blx.1_Silent_p.A659A	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2414	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						CAGAAGAGGCTCTCAAAGGAG	0.478		NaN									OREG0023425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00499	0	17	73				
ACAN	176	broad.mit.edu	37	15	89391184	89391184	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:89391184G>A	uc010upo.1	+	9	2021	c.1647G>A	c.(1645-1647)AAG>AAA	p.K549K	ACAN_uc002bmx.2_Silent_p.K549K|ACAN_uc010upp.1_Silent_p.K549K|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	549					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGGGTGACAAGGACAGCAGCC	0.572		NaN											0	0	0	0.004482	0	9	72				
IGF1R	3480	broad.mit.edu	37	15	99491937	99491937	+	Missense_Mutation	SNP	T	T	G	rs45504297		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:99491937T>G	uc002bul.2	+	20	3772	c.3722T>G	c.(3721-3723)CTG>CGG	p.L1241R	IGF1R_uc010bon.2_Missense_Mutation_p.L1240R	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	1241	Protein kinase.|Cytoplasmic (Potential).				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCTGACATGCTGTACGTACTT	0.537		NaN											0	0	0	0.00308	0	7	71				
NARFL	64428	broad.mit.edu	37	16	786283	786283	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr16:786283G>C	uc002cjr.2	-	4	434	c.422C>G	c.(421-423)TCA>TGA	p.S141*	NARFL_uc002cjp.2_Nonsense_Mutation_p.S39*|NARFL_uc002cjq.2_Nonsense_Mutation_p.S39*|NARFL_uc002cjs.2_Intron|NARFL_uc010brc.1_Intron|NARFL_uc010uur.1_Intron	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	141					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding				0		Hepatocellular(780;0.0218)				TTTAAAGAATGAGGTTAATTT	0.522		NaN											0	0	0	0.001984	0	7	54				
PRR14	78994	broad.mit.edu	37	16	30665636	30665636	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr16:30665636G>C	uc002dyy.2	+	7	892	c.634G>C	c.(634-636)GAC>CAC	p.D212H	PRR14_uc002dyz.2_Missense_Mutation_p.D57H|PRR14_uc002dza.2_Missense_Mutation_p.D212H|PRR14_uc002dzb.1_Missense_Mutation_p.D26H	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	proline rich 14	212	Pro-rich.										0			Colorectal(24;0.103)			TCTGCCTGCAGACCCTCTGGA	0.577		NaN											0	0	0	0.00623	0	40	128				
ATP6V0D1	9114	broad.mit.edu	37	16	67514921	67514921	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr16:67514921C>T	uc002ete.1	-	1	169	c.69G>A	c.(67-69)CTG>CTA	p.L23L	ATP6V0D1_uc010vjo.1_Silent_p.L23L	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	23					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CCCCGGCCTTCAGGCCGCGCA	0.652		NaN											0	0	0	0.003163	0	15	44				
FAM65A	79567	broad.mit.edu	37	16	67578265	67578265	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr16:67578265C>T	uc010vjp.1	+	15	2820	c.2724C>T	c.(2722-2724)CTC>CTT	p.L908L	FAM65A_uc002eth.2_Silent_p.L888L|FAM65A_uc010cej.2_Silent_p.L891L|FAM65A_uc010vjq.1_Silent_p.L902L|FAM65A_uc002etk.2_Silent_p.L886L	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	892						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCGCCCCCTCAGCACGGGGT	0.652		NaN											0	0	0	0.00632	0	28	73				
ZC3H18	124245	broad.mit.edu	37	16	88643559	88643559	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr16:88643559G>C	uc002fky.2	+	2	228	c.28G>C	c.(28-30)GAT>CAT	p.D10H	ZC3H18_uc010voy.1_Missense_Mutation_p.D10H|ZC3H18_uc010voz.1_Missense_Mutation_p.D10H|ZC3H18_uc010vpa.1_Missense_Mutation_p.D10H	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	10						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCTGAACGGGATCCTCACTC	0.547		NaN											0	0	0	0.001984	0	7	42				
ANKFY1	51479	broad.mit.edu	37	17	4080500	4080500	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:4080500G>A	uc002fxq.1	-	19	2734	c.2696C>T	c.(2695-2697)TCA>TTA	p.S899L	ANKFY1_uc002fxn.2_Missense_Mutation_p.S941L|ANKFY1_uc002fxo.2_Missense_Mutation_p.S900L|ANKFY1_uc002fxp.2_Missense_Mutation_p.S898L|ANKFY1_uc010ckp.2_Missense_Mutation_p.S841L	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	899	ANK 16.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						CTGGACTCTTGAATTCACATT	0.473		NaN											0	0	0	0.004656	0	27	47				
ANKFY1	51479	broad.mit.edu	37	17	4080558	4080558	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:4080558G>A	uc002fxq.1	-	19	2676	c.2638C>T	c.(2638-2640)CAG>TAG	p.Q880*	ANKFY1_uc002fxn.2_Nonsense_Mutation_p.Q922*|ANKFY1_uc002fxo.2_Nonsense_Mutation_p.Q881*|ANKFY1_uc002fxp.2_Nonsense_Mutation_p.Q879*|ANKFY1_uc010ckp.2_Nonsense_Mutation_p.Q822*	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	880	ANK 16.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						TCAGAGTTCTGAACTGCCACA	0.473		NaN											0	0	0	0.005443	0	28	53				
DNAH2	146754	broad.mit.edu	37	17	7710807	7710807	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:7710807G>C	uc002giu.1	+	62	9646	c.9632G>C	c.(9631-9633)CGG>CCG	p.R3211P	DNAH2_uc010cnm.1_Missense_Mutation_p.R149P	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3211	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGGCTATATCGGGTGGTGGAG	0.642		NaN											0	0	0	0.001168	0	5	53				
RAD51L3	5892	broad.mit.edu	37	17	33427979	33427979	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:33427979T>G	uc002hir.2	-	10	1236	c.980A>C	c.(979-981)CAG>CCG	p.Q327P	RFFL_uc002hiq.2_Intron|RAD51L3_uc010ctj.2_3'UTR|RAD51L3_uc010wcd.1_Missense_Mutation_p.Q347P|RAD51L3_uc002his.2_Missense_Mutation_p.Q215P|RAD51L3_uc010ctk.2_Missense_Mutation_p.Q208P|RAD51L3_uc010wce.1_Missense_Mutation_p.Q208P|RAD51L3_uc002hit.2_Missense_Mutation_p.Q208P|RAD51L3_uc002hiu.2_Missense_Mutation_p.Q150P	NM_002878	NP_002869	O75771	RA51D_HUMAN	RAD51-like 3 isoform 1	327					DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGGTCATGTCTGATCACCCTG	0.532		NaN						Direct_reversal_of_damage|Homologous_recombination					0	0	0	0.00499	0	16	61				
MRM1	79922	broad.mit.edu	37	17	34958603	34958603	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:34958603G>C	uc002hne.2	+	1	579	c.364G>C	c.(364-366)GAG>CAG	p.E122Q	MRM1_uc002hnf.2_5'UTR	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog	122					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TGTCTGCATGGAGGTGAGCCC	0.682		NaN											0	0	0	0.004672	0	3	35				
ACACA	31	broad.mit.edu	37	17	35591979	35591979	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:35591979C>G	uc002hnm.2	-	25	3237	c.3046G>C	c.(3046-3048)GAG>CAG	p.E1016Q	ACACA_uc002hnk.2_Missense_Mutation_p.E938Q|ACACA_uc002hnl.2_Missense_Mutation_p.E958Q|ACACA_uc002hnn.2_Missense_Mutation_p.E1016Q|ACACA_uc002hno.2_Missense_Mutation_p.E1053Q|ACACA_uc010cuz.2_Missense_Mutation_p.E1016Q	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1016					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTTTTATTCTCTTCTCGGAGG	0.398		NaN											0	0	0	0.006122	0	19	57				
MED1	5469	broad.mit.edu	37	17	37599809	37599809	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:37599809G>T	uc002hrv.3	-	3	417	c.205C>A	c.(205-207)CTC>ATC	p.L69I	MED1_uc010wee.1_5'UTR|MED1_uc002hru.2_Missense_Mutation_p.L69I	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	69	Interaction with ESR1.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AAACCTTTGAGAGCCTTCTGC	0.398		NaN								HNSCC(31;0.082)			1	0	0.00448238	0.004482	0.00466866	8	49				
G6PC	2538	broad.mit.edu	37	17	41063350	41063350	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:41063350C>T	uc002icb.1	+	5	1060	c.981C>T	c.(979-981)TTC>TTT	p.F327F	G6PC_uc010whf.1_3'UTR	NM_000151	NP_000142	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	327	Helical; (Potential).		Missing (in GSD1A).		gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCTTGTCCTTCTGCAAGAGTG	0.577		NaN							Glycogen_Storage_Disease_type_Ia				0	0	0	0.010729	0	10	117				
AARSD1	80755	broad.mit.edu	37	17	41105755	41105755	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:41105755C>G	uc002icc.2	-	10	997	c.994G>C	c.(994-996)GAG>CAG	p.E332Q	AARSD1_uc002icd.2_Missense_Mutation_p.E445Q|AARSD1_uc002ice.2_Missense_Mutation_p.E415Q|AARSD1_uc002icf.2_Missense_Mutation_p.E506Q|AARSD1_uc010whg.1_Missense_Mutation_p.E506Q	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	332					alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding				0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GACCCAATCTCATTGGCAATG	0.502		NaN											0	0	0	0.00308	0	8	54				
BRCA1	672	broad.mit.edu	37	17	41203122	41203122	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:41203122G>T	uc002icq.2	-	20	5522	c.5290C>A	c.(5290-5292)CTA>ATA	p.L1764I	BRCA1_uc010whp.1_Missense_Mutation_p.L613I|BRCA1_uc010whl.1_Missense_Mutation_p.L660I|BRCA1_uc010whm.1_Missense_Mutation_p.L74I|BRCA1_uc002icp.3_Missense_Mutation_p.L1693I|BRCA1_uc002icu.2_Missense_Mutation_p.L660I|BRCA1_uc010cyx.2_Missense_Mutation_p.L1717I|BRCA1_uc002ict.2_Missense_Mutation_p.L1785I|BRCA1_uc010whn.1_Missense_Mutation_p.L255I|BRCA1_uc010who.1_Intron	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	1764	BRCT 2.		L -> P (in BC; unknown pathological significance).		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CAGATTTCTAGCCCCCTGAAG	0.463		NaN	D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			1	0	0.00307968	0.00308	0.00322442	8	40				
IMP5	162540	broad.mit.edu	37	17	43923859	43923859	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:43923859G>A	uc010wka.1	+	1	1587	c.1587G>A	c.(1585-1587)CAG>CAA	p.Q529Q	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	529	Extracellular (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		GGACTGGCCAGGGCAGAGCTA	0.632		NaN											0	0	0	0.008291	0	11	55				
METTL2A	339175	broad.mit.edu	37	17	60501649	60501649	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:60501649G>T	uc002izv.2	+	2	198	c.180G>T	c.(178-180)CAG>CAT	p.Q60H	METTL2A_uc002izw.2_5'UTR	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	60							methyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			ACAGTATCCAGCGGGTGTGCC	0.592		NaN									OREG0024635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	0.00024832	0.009096	0.000263429	3	30				
TLK2	11011	broad.mit.edu	37	17	60629727	60629727	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:60629727A>G	uc010ddp.2	+	8	864	c.596A>G	c.(595-597)AAA>AGA	p.K199R	TLK2_uc002izx.3_Missense_Mutation_p.K47R|TLK2_uc002izz.3_Missense_Mutation_p.K199R|TLK2_uc002jaa.3_Missense_Mutation_p.K167R|TLK2_uc010wpd.1_Missense_Mutation_p.K167R	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	199					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2						AGCTCCCAAAAACAGATCTCC	0.478		NaN											0	0	0	0.004482	0	5	25				
GNA13	10672	broad.mit.edu	37	17	63010911	63010911	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:63010911T>C	uc002jfc.2	-	4	807	c.598A>G	c.(598-600)AGA>GGA	p.R200G	GNA13_uc010wqh.1_Missense_Mutation_p.R105G	NM_006572	NP_006563	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein),	200	GTP (By similarity).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding				0						GTGGGTCTTCTGGCAAGCAGA	0.353		NaN											0	0	0	0.008871	0	19	49				
AMZ2	51321	broad.mit.edu	37	17	66247008	66247008	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:66247008C>G	uc002jgs.1	+	4	474	c.357C>G	c.(355-357)TTC>TTG	p.F119L	AMZ2_uc002jgr.1_Missense_Mutation_p.F119L|AMZ2_uc002jgt.1_Missense_Mutation_p.F119L|AMZ2_uc002jgu.1_Missense_Mutation_p.F119L|AMZ2_uc002jgv.1_Missense_Mutation_p.F119L|AMZ2_uc002jgw.1_Intron|AMZ2_uc002jgy.1_Missense_Mutation_p.F119L	NM_001033572	NP_001028744	Q86W34	AMZ2_HUMAN	archaemetzincins-2 isoform 1	119							metallopeptidase activity|zinc ion binding				0	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGCATATTTCTATGGCTTGA	0.368		NaN											0	0	0	0.00308	0	8	59				
C17orf77	146723	broad.mit.edu	37	17	72588357	72588358	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:72588357_72588358CC>AG	uc002jla.1	+	3	534_535	c.172_173CC>AG	c.(172-174)CCT>AGT	p.P58S	CD300LD_uc002jkz.2_5'UTR	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	hypothetical protein LOC146723	58						extracellular region					0						TGTCTCCTCTCCTCTCCTTGGT	0.55		NaN											0	0	0	0.004672	0	11	52				
USH1G	124590	broad.mit.edu	37	17	72915769	72915769	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:72915769C>T	uc002jme.1	-	2	1345	c.1162G>A	c.(1162-1164)GAG>AAG	p.E388K	USH1G_uc010wro.1_Missense_Mutation_p.E285K	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Usher syndrome 1G protein	388	SAM.				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton				skin(2)	2	all_lung(278;0.172)|Lung NSC(278;0.207)					GGGCTAGTCTCGGGCTCCAGG	0.632		NaN											0	0	0	0.00308	0	7	41				
CASKIN2	57513	broad.mit.edu	37	17	73498743	73498743	+	Silent	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:73498743A>T	uc002joc.2	-	18	2962	c.2412T>A	c.(2410-2412)CCT>CCA	p.P804P	CASKIN2_uc010wsc.1_Silent_p.P722P	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	804	Pro-rich.					cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGTGGGGCCAGGGCGGCTTA	0.711		NaN											0	0	0	0.004672	0	3	6				
UNK	85451	broad.mit.edu	37	17	73780818	73780818	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:73780818G>A	uc002jpm.2	+	2	85	c.85G>A	c.(85-87)GAA>AAA	p.E29K	UNK_uc002jpn.2_RNA|UNK_uc002jpo.2_RNA	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	Error:Variant_position_missing_in_Q9C0B0_after_alignment							nucleic acid binding|zinc ion binding				0			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCGGACATAGAACCACAACT	0.637		NaN											0	0	0	0.004672	0	3	21				
EVPL	2125	broad.mit.edu	37	17	74005731	74005731	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:74005731C>T	uc002jqi.2	-	22	3783	c.3555G>A	c.(3553-3555)AAG>AAA	p.K1185K	EVPL_uc010wss.1_Silent_p.K1207K|EVPL_uc010wst.1_Silent_p.K655K	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1185	Central fibrous rod domain.|Plectin 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						TGGGCCTCTGCTTCTCCACCA	0.632		NaN											0	0	0	0.009096	0	4	57				
THOC4	10189	broad.mit.edu	37	17	79846256	79846256	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:79846256C>G	uc002kbu.2	-	5	647	c.641G>C	c.(640-642)GGA>GCA	p.G214A		NM_005782	NP_005773	Q86V81	THOC4_HUMAN	THO complex 4	207	Ala/Arg/Gly-rich.				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACCAAAACCTCCAGCGCCACG	0.612		NaN											0	0	0	0.00308	0	8	15				
LPIN2	9663	broad.mit.edu	37	18	2939525	2939525	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr18:2939525C>T	uc002klo.2	-	6	1014	c.775G>A	c.(775-777)GAG>AAG	p.E259K		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	lipin 2	259					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ATGTGAGACTCTGATCTGAGC	0.512		NaN											0	0	0	0.00623	0	41	36				
SLC14A1	6563	broad.mit.edu	37	18	43319618	43319618	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr18:43319618C>T	uc010xcn.1	+	9	1256	c.937C>T	c.(937-939)CTT>TTT	p.L313F	SLC14A1_uc010dnk.2_Missense_Mutation_p.L369F|SLC14A1_uc002lbf.3_Missense_Mutation_p.L313F|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Missense_Mutation_p.L208F|SLC14A1_uc002lbh.3_Missense_Mutation_p.L205F|SLC14A1_uc002lbi.3_Missense_Mutation_p.L181F|SLC14A1_uc002lbj.3_Missense_Mutation_p.L369F|SLC14A1_uc002lbk.3_Missense_Mutation_p.L313F	NM_001146036	NP_001139508	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter),	313	Helical; (Potential).					integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|pancreas(1)	2						CCTCCTGGCTCTTGGCTGTGG	0.468		NaN											0	0	0	0.004482	0	9	35				
ELANE	1991	broad.mit.edu	37	19	855684	855684	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:855684C>T	uc002lqb.2	+	4	525	c.487C>T	c.(487-489)CGT>TGT	p.R163C		NM_001972	NP_001963	P08246	ELNE_HUMAN	neutrophil elastase preproprotein	163	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			pancreas(1)	1					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGGCAGGAACCGTGGGATCGC	0.706		NaN							Kostmann_syndrome				0	0	0	0.010729	0	10	50				
C19orf28	126321	broad.mit.edu	37	19	3548011	3548011	+	Silent	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:3548011C>A	uc002lxz.2	-	4	842	c.672G>T	c.(670-672)GTG>GTT	p.V224V	C19orf28_uc002lxw.2_Silent_p.V224V|C19orf28_uc002lxx.2_Silent_p.V224V|C19orf28_uc002lxy.2_Silent_p.V215V	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform c	224	Helical; (Potential).				transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)		CGACACCCACCACCAGCAGGG	0.701		NaN											1	0	0.004672	0.004672	0.00484101	3	23				
DNM2	1785	broad.mit.edu	37	19	10883223	10883223	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:10883223G>A	uc002mps.1	+	3	468	c.304G>A	c.(304-306)GAA>AAA	p.E102K	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.E102K|DNM2_uc002mpv.1_Missense_Mutation_p.E102K|DNM2_uc002mpu.1_Missense_Mutation_p.E102K|DNM2_uc010dxl.1_Missense_Mutation_p.E102K	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	102					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GCAGGAGATTGAAGCAGAGAC	0.522		NaN											0	0	0	0.001855	0	13	90				
ZNF709	163051	broad.mit.edu	37	19	12595589	12595589	+	Translation_Start_Site	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:12595589G>T	uc002mtv.3	-	1	44	c.-117C>A	c.(-119--115)CTCTG>CTATG		ZNF709_uc002mtw.3_Intron|ZNF709_uc002mtx.3_Intron	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	zinc finger protein 709 isoform a						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGAGACCCCAGAGCGGAGCGC	0.682		NaN											1	0	0.004672	0.004672	0.00484101	3	17				
CC2D1A	54862	broad.mit.edu	37	19	14037643	14037643	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:14037643C>G	uc002mxo.2	+	20	2382	c.2083C>G	c.(2083-2085)CAG>GAG	p.Q695E	CC2D1A_uc002mxp.2_Missense_Mutation_p.Q695E|CC2D1A_uc010dzh.2_Missense_Mutation_p.Q264E|CC2D1A_uc002mxq.1_Missense_Mutation_p.Q340E	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	695	C2.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGAAGAAGCTCAGAAAGACAA	0.587		NaN											0	0	0	0.001855	0	14	46				
OR7C1	26664	broad.mit.edu	37	19	14910225	14910225	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:14910225C>T	uc010xnz.1	-	1	724	c.724G>A	c.(724-726)GGT>AGT	p.G242S		NM_198944	NP_945182	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C,	242	Helical; Name=6; (Potential).				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						AGGTGGGAACCACAGGTGGAA	0.463		NaN											0	0	0	0.004482	0	9	78				
CALR3	125972	broad.mit.edu	37	19	16601209	16601209	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:16601209C>T	uc002ned.2	-	3	429	c.366G>A	c.(364-366)CTG>CTA	p.L122L	MED26_uc002nee.2_Intron	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	calreticulin 3 precursor	122	N-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding				0						ATTTTCCATTCAGGTTCTTCT	0.423		NaN											0	0	0	0.007291	0	26	55				
C19orf62	29086	broad.mit.edu	37	19	17382464	17382464	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:17382464G>C	uc002nfu.2	+	3	462	c.344G>C	c.(343-345)GGC>GCC	p.G115A	C19orf62_uc010xpl.1_Missense_Mutation_p.G115A|C19orf62_uc002nfv.2_Missense_Mutation_p.G115A|C19orf62_uc010ean.2_Intron|C19orf62_uc002nfw.2_Missense_Mutation_p.G115A	NM_014173	NP_054892	Q9NWV8	BABA1_HUMAN	mediator of Rap80 interactions and targeting 40	115	VWFA-like.				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding	p.G115V(1)		ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						TCGTTCAACGGGTAAGAGGGA	0.532		NaN											0	0	0	0.009096	0	3	18				
NCAN	1463	broad.mit.edu	37	19	19339266	19339266	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:19339266C>G	uc002nlz.2	+	8	2936	c.2837C>G	c.(2836-2838)TCA>TGA	p.S946*	NCAN_uc010ecc.1_Nonsense_Mutation_p.S510*	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	946					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			TCAGTTTCCTCAGGGGAGCCT	0.647		NaN											0	0	0	0.004007	0	16	131				
ZNF43	7594	broad.mit.edu	37	19	21992472	21992472	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:21992472C>T	uc002nqj.2	-	4	497	c.367G>A	c.(367-369)GAG>AAG	p.E123K	ZNF43_uc010ecv.2_Missense_Mutation_p.E117K|ZNF43_uc002nql.2_Missense_Mutation_p.E117K|ZNF43_uc002nqm.2_Missense_Mutation_p.E117K|ZNF43_uc002nqk.2_Missense_Mutation_p.E53K	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ACCTTACACTCATCCACACTT	0.338		NaN											0	0	0	0.001168	0	6	110				
ANKRD27	84079	broad.mit.edu	37	19	33110200	33110200	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:33110200G>A	uc002ntn.1	-	20	2129	c.1973C>T	c.(1972-1974)TCA>TTA	p.S658L		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	658					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					CTCCTGCCTTGAGCTGGCTGA	0.642		NaN											0	0	0	0.006214	0	7	102				
KIAA0355	9710	broad.mit.edu	37	19	34818975	34818975	+	Silent	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:34818975C>G	uc002nvd.3	+	6	1882	c.1023C>G	c.(1021-1023)ACC>ACG	p.T341T		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	341										ovary(1)	1	Esophageal squamous(110;0.162)					AGCTCCCCACCGTCCCTGTGC	0.607		NaN											0	0	0	0.006122	0	18	91				
ZNF146	7705	broad.mit.edu	37	19	36727883	36727883	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:36727883G>C	uc002odq.3	+	4	2064	c.541G>C	c.(541-543)GAG>CAG	p.E181Q	ZNF146_uc010eet.2_Missense_Mutation_p.E181Q|ZNF146_uc010eeu.2_Missense_Mutation_p.E181Q	NM_007145	NP_009076	Q15072	OZF_HUMAN	zinc finger protein 146	181					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding				0	Esophageal squamous(110;0.162)					TCACACTGGAGAGAAACCCTA	0.393		NaN											0	0	0	0.01441	0	57	59				
ZNF607	84775	broad.mit.edu	37	19	38189439	38189439	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:38189439T>G	uc002ohc.1	-	5	2189	c.1593A>C	c.(1591-1593)AGA>AGC	p.R531S	ZNF607_uc002ohb.1_Missense_Mutation_p.K530N	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATTCAAAGGGTTTCTTACCAC	0.403		NaN											0	0	0	0.01441	0	62	80				
SAMD4B	55095	broad.mit.edu	37	19	39866329	39866329	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:39866329C>G	uc002olb.2	+	7	1742	c.707C>G	c.(706-708)TCC>TGC	p.S236C	SAMD4B_uc002ola.2_Missense_Mutation_p.S236C	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	236							protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTGAAGCGCTCCATGTCACTC	0.602		NaN											0	0	0	0.012319	0	23	244				
SAMD4B	55095	broad.mit.edu	37	19	39868426	39868426	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:39868426G>A	uc002olb.2	+	10	2441	c.1406G>A	c.(1405-1407)GGA>GAA	p.G469E	SAMD4B_uc002ola.2_Missense_Mutation_p.G469E	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	469							protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GTCGCCGACGGAGACATCCCC	0.622		NaN											0	0	0	0.009096	0	4	52				
TIMM50	92609	broad.mit.edu	37	19	39976916	39976916	+	Silent	SNP	G	G	A	rs62120692		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:39976916G>A	uc002olu.1	+	7	1024	c.891G>A	c.(889-891)ACG>ACA	p.T297T	TIMM50_uc002olt.1_RNA|TIMM50_uc002olv.1_5'UTR	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50	194	Mitochondrial intermembrane (Potential).|FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			ovary(1)	1	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCATCTTTACGTCAGAGACTG	0.552		NaN											0	0	0	0.009535	0	31	225				
CEACAM7	1087	broad.mit.edu	37	19	42192066	42192066	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:42192066C>G	uc002ori.1	-	1	31	c.29G>C	c.(28-30)AGA>ACA	p.R10T	CEACAM7_uc010ehx.2_Missense_Mutation_p.R10T|CEACAM7_uc010ehy.1_Missense_Mutation_p.R10T	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion	10						anchored to membrane|integral to membrane|plasma membrane				ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		AATGCACACTCTGTATGGACA	0.617		NaN											0	0	0	0.00245	0	14	44				
ZNF223	7766	broad.mit.edu	37	19	44571048	44571048	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:44571048C>T	uc002oyf.1	+	5	1320	c.1067C>T	c.(1066-1068)TCC>TTC	p.S356F	ZNF284_uc010ejd.2_RNA	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	356	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0352)				TTCAGACGGTCCTCCTATCTT	0.438		NaN											0	0	0	0.001984	0	7	139				
CCDC9	26093	broad.mit.edu	37	19	47773894	47773894	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:47773894G>C	uc010xym.1	+	10	1241	c.1034G>C	c.(1033-1035)AGA>ACA	p.R345T		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	345	Poly-Arg.										0		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		AGCAGCCGCAGAAGGAGAAAG	0.672		NaN											0	0	0	0.000602	0	5	49				
PNKP	11284	broad.mit.edu	37	19	50370408	50370408	+	Silent	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:50370408T>C	uc002pqh.2	-	1	106	c.54A>G	c.(52-54)GGA>GGG	p.G18G	PNKP_uc002pqg.2_5'Flank|PNKP_uc002pqi.2_5'UTR|PNKP_uc002pqj.2_Silent_p.G18G|PNKP_uc010enm.2_Silent_p.G18G|PNKP_uc002pqk.2_Silent_p.G18G	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	polynucleotide kinase 3' phosphatase	18				G -> E (in Ref. 1; AAD51135).	DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			ovary(1)|kidney(1)	2		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TGGGGGGCGCTCCCCCAGGGG	0.711		NaN						Other_BER_factors					0	0	0	0.010729	0	10	22				
MYBPC2	4606	broad.mit.edu	37	19	50947074	50947074	+	Splice_Site	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:50947074G>A	uc002psf.2	+	11	1184	c.1133_splice	c.e11+1	p.W378_splice		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type						cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGGTGATGTGGTAAGTGACCC	0.512		NaN											0	0	0	0.01441	0	50	61				
CD33	945	broad.mit.edu	37	19	51728804	51728804	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:51728804G>T	uc002pwa.2	+	2	408	c.368G>T	c.(367-369)GGA>GTA	p.G123V	CD33_uc010eos.1_Missense_Mutation_p.G123V|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	123	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	ATGGAGAGAGGAAGTACCAAA	0.527		NaN											1	0	2.27111e-07	0.013537	2.55102e-07	13	52				
ZSCAN5B	342933	broad.mit.edu	37	19	56701308	56701308	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:56701308C>T	uc010ygh.1	-	4	1376	c.1376G>A	c.(1375-1377)CGC>CAC	p.R459H		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	459	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						GGAGTGGGTGCGCTGGTGAAC	0.537		NaN											0	0	0	0.00278	0	25	24				
PEG3	5178	broad.mit.edu	37	19	57335683	57335683	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:57335683C>G	uc002qnu.2	-	1	692	c.341G>C	c.(340-342)TGT>TCT	p.C114S	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_5'UTR|ZIM2_uc002qnq.2_5'UTR|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_5'UTR|PEG3_uc002qnt.2_Missense_Mutation_p.C114S|PEG3_uc002qnv.2_Missense_Mutation_p.C114S|PEG3_uc002qnw.2_5'UTR|PEG3_uc002qnx.2_5'UTR|PEG3_uc010etr.2_Missense_Mutation_p.C114S	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	114	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAGCTTCTCACAGTTCTCCGG	0.532		NaN											0	0	0	0.001984	0	7	94				
ASAP2	8853	broad.mit.edu	37	2	9475228	9475228	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:9475228C>G	uc002qzh.2	+	9	1109	c.769C>G	c.(769-771)CAG>GAG	p.Q257E	ASAP2_uc002qzi.2_Missense_Mutation_p.Q257E	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	257	Potential.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						AAAGATCAAACAGGCCCAGGA	0.413		NaN											0	0	0	0.008291	0	9	40				
OTOF	9381	broad.mit.edu	37	2	26702466	26702466	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:26702466C>T	uc002rhk.2	-	17	2095	c.1968G>A	c.(1966-1968)CGG>CGA	p.R656R	OTOF_uc002rhh.2_5'Flank|OTOF_uc002rhi.2_5'Flank|OTOF_uc002rhj.2_5'Flank	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	656	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGGCTCCTTCCGGGGCCGAG	0.627		NaN											0	0	0	0.006214	0	8	21				
ABHD1	84696	broad.mit.edu	37	2	27351315	27351315	+	Silent	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:27351315C>A	uc002rit.2	+	2	281	c.121C>A	c.(121-123)CGG>AGG	p.R41R	ABHD1_uc002riu.2_RNA|ABHD1_uc002riv.2_Intron	NM_032604	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain-containing protein 1	41						integral to membrane	carboxylesterase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGAGGCCTCGGCTGGTGGC	0.602		NaN											1	0	3.27435e-08	0.00245	3.71959e-08	14	50				
XDH	7498	broad.mit.edu	37	2	31560610	31560610	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:31560610C>G	uc002rnv.1	-	35	3927	c.3848G>C	c.(3847-3849)CGA>CCA	p.R1283P		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	1283					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTGCTGAGCTCGAGCTGCACG	0.577		NaN											0	0	0	0.003163	0	16	36				
BIRC6	57448	broad.mit.edu	37	2	32740790	32740790	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:32740790C>G	uc010ezu.2	+	55	11436	c.11302C>G	c.(11302-11304)CTA>GTA	p.L3768V		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3768					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGCGTTCTTTCTACAGTGCAT	0.393		NaN											0	0	0	0.003163	0	16	35				
ABCG5	64240	broad.mit.edu	37	2	44051155	44051155	+	Silent	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:44051155G>C	uc002rtn.2	-	9	1361	c.1221C>G	c.(1219-1221)GTC>GTG	p.V407V	ABCG5_uc002rtm.2_Silent_p.V12V|ABCG5_uc002rto.2_Silent_p.V236V|ABCG5_uc002rtp.2_Silent_p.V12V	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5	407	Extracellular (Potential).|ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			ovary(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CATTGCTTCGGACCCGCAGAA	0.512		NaN											0	0	0	0.00499	0	17	51				
CCDC85A	114800	broad.mit.edu	37	2	56603022	56603022	+	Silent	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:56603022A>G	uc002rzn.2	+	5	2026	c.1524A>G	c.(1522-1524)GGA>GGG	p.G508G		NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	508										breast(3)|ovary(2)	5			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCTTCAGTGGACATGCCACAC	0.458		NaN											0	0	0	0.001168	0	6	27				
CD207	50489	broad.mit.edu	37	2	71058238	71058238	+	Silent	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:71058238T>C	uc002shg.2	-	6	977	c.930A>G	c.(928-930)CCA>CCG	p.P310P		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 antigen, langerin	310	C-type lectin.|Extracellular (Potential).				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			ovary(1)|lung(1)	2						TTTTGTCACATGGGGCATCAT	0.493		NaN											0	0	0	0.001984	0	6	38				
NPHP1	4867	broad.mit.edu	37	2	110881615	110881615	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:110881615G>C	uc002tfn.3	-	20	2046	c.1952C>G	c.(1951-1953)ACG>AGG	p.T651R	NPHP1_uc002tfm.3_Missense_Mutation_p.T596R|NPHP1_uc002tfl.3_Missense_Mutation_p.T652R|NPHP1_uc002tfo.3_Missense_Mutation_p.T533R|NPHP1_uc010ywx.1_Missense_Mutation_p.T595R	NM_207181	NP_997064	O15259	NPHP1_HUMAN	nephrocystin 1 isoform 2	651					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			ovary(2)	2						CAGGAGAAACGTGGACTTCAG	0.458		NaN											0	0	0	0.001984	0	7	85				
FBLN7	129804	broad.mit.edu	37	2	112944892	112944892	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:112944892G>T	uc002tho.1	+	8	1400	c.1129G>T	c.(1129-1131)GGT>TGT	p.G377C	FBLN7_uc002thn.2_Intron|FBLN7_uc010fki.1_Missense_Mutation_p.G331C|FBLN7_uc010fkj.1_Missense_Mutation_p.G243C	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	fibulin 7 isoform 1	377					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			ovary(1)|central_nervous_system(1)	2						TGGGATCGTGGGTGGGAACAG	0.642		NaN											1	0	3.86212e-05	0.008291	4.1632e-05	10	115				
RAB3GAP1	22930	broad.mit.edu	37	2	135884205	135884205	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:135884205G>A	uc002tuj.2	+	11	977	c.952G>A	c.(952-954)GAG>AAG	p.E318K	RAB3GAP1_uc010fnf.2_Missense_Mutation_p.E318K|RAB3GAP1_uc010fng.2_Missense_Mutation_p.E143K|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	318						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		TCGAAAAGCTGAGAATCCTCA	0.368		NaN											0	0	0	0.012213	0	33	80				
THSD7B	80731	broad.mit.edu	37	2	138414501	138414501	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:138414501G>T	uc002tva.1	+	22	4154	c.4154G>T	c.(4153-4155)AGC>ATC	p.S1385I	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		AACCAAGACAGCTGCCCCCAA	0.433		NaN											1	0	3.83957e-06	0.00278	4.22986e-06	21	91				
SCN1A	6323	broad.mit.edu	37	2	166896082	166896082	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:166896082C>T	uc010zcz.1	-	14	2425	c.2407G>A	c.(2407-2409)GAA>AAA	p.E803K	SCN1A_uc002udo.3_Missense_Mutation_p.E683K|SCN1A_uc010fpk.2_Missense_Mutation_p.E655K	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	814	Helical; Name=S2 of repeat II; (By similarity).|II.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGAAACATTTCTGCTGTAAAG	0.333		NaN											0	0	0	0.001168	0	5	19				
NFE2L2	4780	broad.mit.edu	37	2	178095532	178095532	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:178095532G>C	uc002ulh.3	-	5	2354	c.1799C>G	c.(1798-1800)CCA>CGA	p.P600R	NFE2L2_uc002ulg.3_Missense_Mutation_p.P584R|NFE2L2_uc010zfa.1_Missense_Mutation_p.P577R|NFE2L2_uc002uli.3_Missense_Mutation_p.P584R	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	600					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CTTAACATCTGGCTTCTTACT	0.368		NaN	Mis		NSCLC|HNSCC					HNSCC(56;0.16)			0	0	0	0.006214	0	10	97		Valid		
DFNB59	494513	broad.mit.edu	37	2	179323266	179323266	+	Silent	SNP	G	G	A	rs138967124	by1000genomes	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:179323266G>A	uc002umi.3	+	5	935	c.579G>A	c.(577-579)AAG>AAA	p.K193K	DFNB59_uc002umj.3_Silent_p.K193K	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	193					sensory perception of sound						0			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AGAATCCCAAGGGAAGGGACA	0.353		NaN											0	0	0	0.004482	0	9	81				
TTN	7273	broad.mit.edu	37	2	179413895	179413895	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:179413895T>A	uc010zfg.1	-	288	84978	c.84754A>T	c.(84754-84756)AAC>TAC	p.N28252Y	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N21947Y|TTN_uc010zfi.1_Missense_Mutation_p.N21880Y|TTN_uc010zfj.1_Missense_Mutation_p.N21755Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29179							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGGTGGGTTGACGGGCTCT	0.463		NaN											0	0	0	0.001168	0	5	44				
TTN	7273	broad.mit.edu	37	2	179613062	179613062	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:179613062C>T	uc002unb.2	-	46	14289	c.14065G>A	c.(14065-14067)GAG>AAG	p.E4689K	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTACTTTTCTCCACCATAGTT	0.318		NaN											0	0	0	0.013114	0	47	63				
TTN	7273	broad.mit.edu	37	2	179616411	179616411	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:179616411G>T	uc002unb.2	-	46	10940	c.10716C>A	c.(10714-10716)GAC>GAA	p.D3572E	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAATCTCTGTCTTGGACCC	0.403		NaN											1	0	6.94344e-10	0.006122	8.04717e-10	19	104				
C2orf47	79568	broad.mit.edu	37	2	200820940	200820940	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:200820940G>A	uc002uvm.2	+	2	741	c.419G>A	c.(418-420)AGC>AAC	p.S140N	C2orf60_uc002uvj.3_5'Flank|C2orf60_uc002uvi.3_5'Flank|C2orf60_uc002uvk.3_5'Flank|C2orf60_uc010fss.2_5'Flank|C2orf60_uc002uvl.2_5'Flank	NM_024520	NP_078796	Q8WWC4	CB047_HUMAN	hypothetical protein LOC79568 precursor	140						mitochondrion					0						AAAGAGTTCAGCATCACAGAG	0.448		NaN											0	0	0	0.00632	0	27	84				
TRAF3IP1	26146	broad.mit.edu	37	2	239234477	239234477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:239234477C>T	uc002vye.2	+	3	339	c.220C>T	c.(220-222)CAA>TAA	p.Q74*	TRAF3IP1_uc002vyf.2_Nonsense_Mutation_p.Q74*	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting	74	Abolishes microtubules-binding when missing.					cytoplasm|cytoskeleton	protein binding			ovary(1)	1		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		TAGCTTCCTACAAAAGGCCAT	0.423		NaN											0	0	0	0.001855	0	12	53				
VPS16	64601	broad.mit.edu	37	20	2842542	2842542	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:2842542C>A	uc002whe.2	+	10	1039	c.991C>A	c.(991-993)CCA>ACA	p.P331T	VPS16_uc002whh.2_5'Flank|PTPRA_uc002whj.2_5'Flank|VPS16_uc002whf.2_Intron|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_5'Flank|VPS16_uc002whi.2_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	331					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)|skin(1)	4						GCATGAGGTTCCAGGTGAGGC	0.612		NaN											1	0	5.18039e-06	0.00308	5.69133e-06	7	22				
C20orf103	24141	broad.mit.edu	37	20	9496203	9496203	+	Silent	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:9496203G>C	uc002wni.1	+	2	397	c.168G>C	c.(166-168)ACG>ACC	p.T56T	C20orf103_uc010zrc.1_Silent_p.T56T	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	chromosome 20 open reading frame 103 precursor	56	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|lung(1)|breast(1)	3			COAD - Colon adenocarcinoma(9;0.194)			ATGGGACGACGTGTCTCATGG	0.458		NaN											0	0	0	0.010729	0	12	112				
ANKRD5	63926	broad.mit.edu	37	20	10030184	10030184	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:10030184C>G	uc002wno.2	+	7	1360	c.967C>G	c.(967-969)CCA>GCA	p.P323A	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.P323A|ANKRD5_uc010gbz.2_Missense_Mutation_p.P134A	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	323							calcium ion binding			ovary(1)|breast(1)	2						AAATCCAAATCCACTGTGGGC	0.517		NaN											0	0	0	0.001984	0	7	80				
RIN2	54453	broad.mit.edu	37	20	19977359	19977359	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:19977359C>G	uc002wro.1	+	10	2273	c.2237C>G	c.(2236-2238)TCT>TGT	p.S746C	RIN2_uc010gcu.1_Missense_Mutation_p.S313C|RIN2_uc010gcv.1_Missense_Mutation_p.S540C	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	746	VPS9.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5						GGAGCACTTTCTCTGATAAAG	0.527		NaN											0	0	0	0.000602	0	5	28				
NINL	22981	broad.mit.edu	37	20	25484683	25484683	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:25484683C>T	uc002wux.1	-	7	840	c.766G>A	c.(766-768)GAG>AAG	p.E256K	NINL_uc010gdn.1_Missense_Mutation_p.E256K|NINL_uc010gdo.1_Missense_Mutation_p.E96K|NINL_uc010ztf.1_Missense_Mutation_p.E272K	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	256	Potential.|EF-hand 4.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						TGGAATTCCTCAAGACTCACT	0.498		NaN											0	0	0	0.009535	0	33	113				
MYLK2	85366	broad.mit.edu	37	20	30419638	30419638	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:30419638C>T	uc002wwq.2	+	11	1659	c.1557C>T	c.(1555-1557)AAC>AAT	p.N519N	MYLK2_uc002wws.2_Silent_p.N136N|MYLK2_uc010gdw.1_RNA	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	skeletal myosin light chain kinase	519	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTGTCTCCAACCTCATCGTCA	0.517		NaN											0	0	0	0.00308	0	7	75				
MYLK2	85366	broad.mit.edu	37	20	30419888	30419888	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:30419888C>T	uc002wwq.2	+	12	1761	c.1659C>T	c.(1657-1659)CGC>CGT	p.R553R	MYLK2_uc002wws.2_Silent_p.R170R|MYLK2_uc010gdw.1_RNA	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	skeletal myosin light chain kinase	553					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTAACCGACGCCTTAAGTCCC	0.592		NaN											0	0	0	0.001984	0	7	12				
SUN5	140732	broad.mit.edu	37	20	31573573	31573573	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:31573573A>T	uc002wyi.2	-	11	959	c.866T>A	c.(865-867)CTG>CAG	p.L289Q		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	sperm associated antigen 4-like	289	SUN.				spermatogenesis					skin(1)	1						GGCGGTGTCCAGGCTGCCTGA	0.562		NaN											0	0	0	0.009096	0	4	40				
C20orf185	359710	broad.mit.edu	37	20	31644371	31644371	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:31644371G>A	uc002wym.1	+	2	148	c.148G>A	c.(148-150)GAG>AAG	p.E50K		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3 precursor	50	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4						ACTGGTTGGGGAGCCCATTCT	0.607		NaN											0	0	0	0.00874	0	43	73				
DLGAP4	22839	broad.mit.edu	37	20	35064619	35064619	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:35064619C>T	uc002xff.2	+	4	1542	c.1107C>T	c.(1105-1107)TAC>TAT	p.Y369Y	DLGAP4_uc010zvp.1_Silent_p.Y369Y	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	369					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCGGCAGCTACATCAAGGCCA	0.736		NaN											0	0	0	0.004672	0	3	11				
KIAA0406	9675	broad.mit.edu	37	20	36641207	36641207	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:36641207C>A	uc002xhl.2	-	3	1221	c.1012G>T	c.(1012-1014)GGA>TGA	p.G338*	KIAA0406_uc002xhm.2_Nonsense_Mutation_p.G338*	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	338							binding				0		Myeloproliferative disorder(115;0.00874)				TTTACTAGTCCCACTAAGGCC	0.468		NaN											1	0	4.22769e-11	0.00632	4.95703e-11	28	170				
CHD6	84181	broad.mit.edu	37	20	40049171	40049171	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:40049171C>G	uc002xka.1	-	31	6282	c.6104G>C	c.(6103-6105)AGA>ACA	p.R2035T		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2035					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				GTTTCCGTCTCTATCATAATC	0.433		NaN											0	0	0	0.006122	0	18	89				
CHD6	84181	broad.mit.edu	37	20	40052303	40052303	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:40052303C>T	uc002xka.1	-	30	4562	c.4384G>A	c.(4384-4386)GTG>ATG	p.V1462M		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1462					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				AAGGAAGACACTGTTCTATAG	0.408		NaN											0	0	0	0.013537	0	12	167				
SEMG2	6407	broad.mit.edu	37	20	43851768	43851768	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:43851768G>A	uc010ggz.2	+	2	1552	c.1495G>A	c.(1495-1497)GAA>AAA	p.E499K	SEMG2_uc002xnk.2_Missense_Mutation_p.E499K|SEMG2_uc002xnl.2_Intron	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	499	Repeat-rich region.|4 X 60 AA tandem repeats, type I.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				TTTCCAAATTGAAAAGCTAGT	0.398		NaN											0	0	0	0.001168	0	6	77				
WFDC13	164237	broad.mit.edu	37	20	44330835	44330835	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:44330835A>C	uc002xpd.2	+	1	181	c.73A>C	c.(73-75)AAG>CAG	p.K25Q	WFDC10B_uc002xpb.2_Intron|WFDC10B_uc002xpc.2_Intron	NM_172005	NP_742002	Q8IUB5	WFD13_HUMAN	WAP four-disulfide core domain 13 precursor	25						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)				TGGGAGTCCCAAGCAGCGTGT	0.562		NaN											0	0	0	0.009096	0	4	22				
PCIF1	63935	broad.mit.edu	37	20	44574444	44574444	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:44574444G>C	uc002xqs.2	+	12	1577	c.1263G>C	c.(1261-1263)ATG>ATC	p.M421I	PCIF1_uc002xqt.2_Missense_Mutation_p.M1I|PCIF1_uc002xqu.2_5'Flank	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	421						nucleus				skin(1)	1						GCGTGGAGATGCACATGGAGA	0.612		NaN											0	0	0	0.006214	0	9	105				
KCNB1	3745	broad.mit.edu	37	20	47990502	47990502	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:47990502A>C	uc002xur.1	-	2	1759	c.1595T>G	c.(1594-1596)ATG>AGG	p.M532R	KCNB1_uc002xus.1_Missense_Mutation_p.M532R	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	532	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTTATTGTACATGTCTTCCAA	0.468		NaN											0	0	0	0.00499	0	18	201				
BCAS4	55653	broad.mit.edu	37	20	49493030	49493030	+	Silent	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:49493030C>G	uc002xvq.2	+	6	658	c.594C>G	c.(592-594)ACC>ACG	p.T198T	BCAS4_uc002xvr.2_Missense_Mutation_p.P166R|BCAS4_uc002xvs.2_Missense_Mutation_p.P121R	NM_017843	NP_060313	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4 isoform a	198						cytoplasm					0						CAGAAGTCACCTGCACCGGTG	0.557		NaN											0	0	0	0.004007	0	16	107				
UCKL1	54963	broad.mit.edu	37	20	62575994	62575994	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:62575994C>T	uc010gkn.2	-	6	791	c.748G>A	c.(748-750)GAG>AAG	p.E250K	UCKL1_uc002yhj.2_5'Flank|UCKL1_uc011abm.1_Missense_Mutation_p.E235K|UCKL1_uc011abn.1_RNA|UCKL1_uc011abo.1_RNA|MIR647_hsa-mir-647|MI0003662_5'Flank	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	250					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ATGACACCCTCGATGTCCCGG	0.602		NaN											0	0	0	0.001984	0	6	29				
ADAMTS5	11096	broad.mit.edu	37	21	28304481	28304481	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr21:28304481C>T	uc002ymg.2	-	6	2620	c.1891G>A	c.(1891-1893)GAA>AAA	p.E631K		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	631	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						TCACACTGTTCATGACGAAAT	0.363		NaN											0	0	0	0.001984	0	7	37				
KRTAP27-1	643812	broad.mit.edu	37	21	31709409	31709409	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr21:31709409T>C	uc002ynx.1	-	1	604	c.578A>G	c.(577-579)GAA>GGA	p.E193G		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	193						intermediate filament				ovary(2)	2						GCAAGTTGGTTCAACTCCTGG	0.438		NaN											0	0	0	0.00308	0	8	52				
SIM2	6493	broad.mit.edu	37	21	38098555	38098555	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr21:38098555C>T	uc002yvr.2	+	6	735	c.679C>T	c.(679-681)CTG>TTG	p.L227L	SIM2_uc002yvq.2_Silent_p.L227L	NM_005069	NP_005060	Q14190	SIM2_HUMAN	single-minded homolog 2 long isoform	227	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)	1						CGAGATCAAGCTGTACAGTAA	0.567		NaN											0	0	0	0.00308	0	7	40				
MCM3AP	8888	broad.mit.edu	37	21	47695171	47695171	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr21:47695171C>G	uc002zir.1	-	6	1963	c.1927G>C	c.(1927-1929)GAG>CAG	p.E643Q		NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	643					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					CTCTCCTTCTCAGGACACATA	0.537		NaN											0	0	0	0.000602	0	5	17				
CLDN5	7122	broad.mit.edu	37	22	19511148	19511148	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:19511148C>T	uc002zpu.2	-	2	1101	c.886G>A	c.(886-888)GAC>AAC	p.D296N	CLDN5_uc010grr.2_Missense_Mutation_p.D296N	NM_003277	NP_003268	O00501	CLD5_HUMAN	claudin 5	211	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0	Colorectal(54;0.0993)					TTGTCGTAGTCGCCGGTGGCC	0.716		NaN											0	0	0	0.009096	0	4	29				
CYTSA	23384	broad.mit.edu	37	22	24717999	24717999	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:24717999G>A	uc002zzw.2	+	5	1358	c.1051G>A	c.(1051-1053)GAG>AAG	p.E351K	CYTSA_uc002zzv.3_Missense_Mutation_p.E351K|CYTSA_uc011ajq.1_Missense_Mutation_p.E351K	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	351					cell cycle|cell division						0						TGAGTGCAGTGAGGTCTACCA	0.547		NaN											0	0	0	0.013537	0	13	66				
NIPSNAP1	8508	broad.mit.edu	37	22	29966393	29966393	+	Splice_Site	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:29966393C>A	uc003afx.3	-	2	299	c.226_splice	c.e2+1	p.F76_splice	NIPSNAP1_uc011akp.1_Splice_Site_p.F56_splice	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1									p.?(1)		skin(1)	1						CAGCCACTCACACTGGATCTT	0.567		NaN											1	0	0.000157383	0.00308	0.000168295	7	36				
PES1	23481	broad.mit.edu	37	22	30980647	30980647	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:30980647G>C	uc003aij.1	-	5	500	c.426C>G	c.(424-426)TTC>TTG	p.F142L	PES1_uc003aik.1_Missense_Mutation_p.F142L|PES1_uc003ail.1_Missense_Mutation_p.F142L|PES1_uc003aim.1_Missense_Mutation_p.F142L|PES1_uc003ain.1_Missense_Mutation_p.F3L|PES1_uc003aio.1_Missense_Mutation_p.F3L	NM_014303	NP_055118	O00541	PESC_HUMAN	pescadillo homolog 1, containing BRCT domain	142	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						TGGAAAACAGGAAGCACATGG	0.607		NaN											0	0	0	0.009096	0	4	27				
PISD	23761	broad.mit.edu	37	22	32044244	32044244	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:32044244G>C	uc003alm.3	-	3	171	c.164C>G	c.(163-165)ACT>AGT	p.T55S	PISD_uc003aln.3_Missense_Mutation_p.T55S	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	55					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(2)|ovary(1)	3					Phosphatidylserine(DB00144)	GGCAGGGGCAGTGTGGATTTT	0.527		NaN											0	0	0	0.000602	0	5	3				
TOM1	10043	broad.mit.edu	37	22	35723369	35723369	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:35723369G>A	uc003ann.2	+	7	879	c.754G>A	c.(754-756)GAG>AAG	p.E252K	TOM1_uc011ami.1_Missense_Mutation_p.E219K|TOM1_uc011amj.1_Missense_Mutation_p.E95K|TOM1_uc003ans.2_Missense_Mutation_p.E95K|TOM1_uc011amk.1_Missense_Mutation_p.E214K|TOM1_uc003anp.2_Missense_Mutation_p.E252K|TOM1_uc011aml.1_Missense_Mutation_p.E207K|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.E246K|TOM1_uc003anr.2_Missense_Mutation_p.E95K	NM_005488	NP_005479	O60784	TOM1_HUMAN	target of myb1 isoform 1	252	GAT.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			ovary(1)	1						CGCAGACCTGGAGCTGCTGCA	0.622		NaN											0	0	0	0.009096	0	3	22				
TRIOBP	11078	broad.mit.edu	37	22	38120564	38120564	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:38120564C>G	uc003atr.2	+	7	2272	c.2001C>G	c.(1999-2001)ATC>ATG	p.I667M	TRIOBP_uc003atu.2_Missense_Mutation_p.I495M|TRIOBP_uc003atq.1_Missense_Mutation_p.I667M|TRIOBP_uc003ats.1_Missense_Mutation_p.I495M	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	667					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					ACAGAACCATCCAACAAGAGA	0.572		NaN											0	0	0	0.006122	0	18	47				
ARPC4	10093	broad.mit.edu	37	3	9845628	9845628	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:9845628G>C	uc003bsz.1	+	5	1011	c.432G>C	c.(430-432)AAG>AAC	p.K144N	ARPC4_uc003bta.1_Missense_Mutation_p.K54N|ARPC4_uc003btb.1_Missense_Mutation_p.K54N|ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Intron	NM_005718	NP_005709	P59998	ARPC4_HUMAN	actin related protein 2/3 complex subunit 4	144					actin filament polymerization|actin nucleation	Arp2/3 protein complex|cell projection|cytoplasm	actin binding				0	Medulloblastoma(99;0.227)					AGATTGACAAGGAGATCAGTG	0.468		NaN											0	0	0	0.001855	0	14	122				
ATP2B2	491	broad.mit.edu	37	3	10419989	10419989	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:10419989T>C	uc003bvt.2	-	10	1587	c.1148A>G	c.(1147-1149)AAG>AGG	p.K383R	ATP2B2_uc003bvv.2_Missense_Mutation_p.K338R|ATP2B2_uc003bvw.2_Missense_Mutation_p.K338R|ATP2B2_uc010hdo.2_Missense_Mutation_p.K88R	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	383	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						CAGCACGGACTTCTCCTTCTT	0.607		NaN											0	0	0	0.00308	0	8	66				
SLC6A11	6538	broad.mit.edu	37	3	10858095	10858095	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:10858095G>A	uc003bvz.2	+	1	179	c.145G>A	c.(145-147)GAG>AAG	p.E49K	SLC6A11_uc003bvy.1_Missense_Mutation_p.E49K	NM_014229	NP_055044	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter	49	Cytoplasmic (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GGCGGTCCACGAGCGCGGCCA	0.557		NaN											0	0	0	0.004672	0	3	13				
ZNF502	91392	broad.mit.edu	37	3	44763523	44763523	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:44763523G>A	uc011baa.1	+	4	1469	c.1214G>A	c.(1213-1215)AGA>AAA	p.R405K	ZNF502_uc003cns.2_Missense_Mutation_p.R405K|ZNF502_uc011bab.1_Missense_Mutation_p.R405K|ZNF502_uc003cnt.2_Missense_Mutation_p.R405K	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ACAGGGGAGAGACCCTACAAA	0.413		NaN											0	0	0	0.003163	0	16	30				
SLC6A20	54716	broad.mit.edu	37	3	45812892	45812892	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:45812892G>C	uc011bai.1	-	6	876	c.752C>G	c.(751-753)TCA>TGA	p.S251*	SLC6A20_uc003cow.2_5'UTR|SLC6A20_uc011baj.1_Nonsense_Mutation_p.S214*	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	solute carrier family 6, member 20 isoform 1	251	Helical; Name=6; (Potential).				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CAGGCCAAGTGAGAAGAAGAT	0.587		NaN											0	0	0	0.008291	0	11	30				
CSPG5	10675	broad.mit.edu	37	3	47604194	47604194	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:47604194C>A	uc003crp.3	-	5	1773	c.1597G>T	c.(1597-1599)GAG>TAG	p.E533*	CSPG5_uc003crm.2_RNA|CSPG5_uc003crn.2_Nonsense_Mutation_p.E368*|CSPG5_uc003cro.3_Nonsense_Mutation_p.E506*|CSPG5_uc011bbb.1_Nonsense_Mutation_p.E395*	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	533	Cytoplasmic (Potential).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AATGACTCCTCCTCTTTCAGG	0.488		NaN											1	0	3.32936e-07	0.006122	3.71887e-07	19	78				
SEMA3F	6405	broad.mit.edu	37	3	50197151	50197151	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:50197151C>T	uc003cyj.2	+	2	294	c.96C>T	c.(94-96)GTC>GTT	p.V32V	SEMA3F_uc003cyk.2_Silent_p.V32V	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	32	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CGCCCCGGGTCCGGCTCTCAT	0.587		NaN											0	0	0	0.000602	0	5	22				
SEMA3B	7869	broad.mit.edu	37	3	50311844	50311844	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:50311844C>A	uc003cyu.2	+	13	1430	c.1188C>A	c.(1186-1188)GAC>GAA	p.D396E	SEMA3B_uc003cyt.2_Missense_Mutation_p.D395E|SEMA3B_uc003cyv.2_Missense_Mutation_p.D283E|SEMA3B_uc003cyw.2_Missense_Mutation_p.D119E|SEMA3B_uc010hli.2_Missense_Mutation_p.D288E|SEMA3B_uc003cyx.2_Missense_Mutation_p.D282E|SEMA3B_uc003cyy.2_Missense_Mutation_p.D53E|SEMA3B_uc011bdo.1_Missense_Mutation_p.D53E	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	semaphorin 3B isoform 1 precursor	396	Sema.				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			lung(2)|central_nervous_system(2)|kidney(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACTTCCCAGACGATGTCATCC	0.572		NaN									OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1.9806e-07	0.014323	2.23095e-07	21	76				
DNAH1	25981	broad.mit.edu	37	3	52400859	52400859	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:52400859G>T	uc011bef.1	+	36	5982	c.5721G>T	c.(5719-5721)ACG>ACT	p.T1907T		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1907	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGTCCATCACGATGGGCCAGC	0.607		NaN											1	0	5.16669e-11	0.010729	6.02279e-11	9	59				
ARL13B	200894	broad.mit.edu	37	3	93699277	93699277	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:93699277C>G	uc003drc.2	+	1	296	c.10C>G	c.(10-12)CTG>GTG	p.L4V	ARL13B_uc010hop.2_5'UTR|ARL13B_uc003drd.2_Missense_Mutation_p.L4V|ARL13B_uc003dre.2_5'UTR|ARL13B_uc003drf.2_Missense_Mutation_p.L4V|ARL13B_uc003drg.2_5'UTR	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 2-like 1 isoform 1	4							GTP binding				0						GATGTTCAGTCTGATGGCCAG	0.692		NaN											0	0	0	0.004007	0	13	74				
PARP14	54625	broad.mit.edu	37	3	122420202	122420202	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:122420202T>G	uc003efq.3	+	6	2860	c.2801T>G	c.(2800-2802)GTG>GGG	p.V934G	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.V651G|PARP14_uc003efs.1_Missense_Mutation_p.V651G	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	934	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		GGCCGATGCGTGGAGACCATT	0.448		NaN											0	0	0	0.004482	0	8	51				
HSPBAP1	79663	broad.mit.edu	37	3	122459597	122459597	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:122459597C>A	uc003efu.1	-	8	1185	c.1062G>T	c.(1060-1062)ATG>ATT	p.M354I	HSPBAP1_uc003eft.1_Missense_Mutation_p.M65I	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Hspb associated protein 1	354						cytoplasm				ovary(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.0531)		CTTCCTTTTTCATGTGCTCTC	0.458		NaN											1	0	1.33834e-09	0.007413	1.54661e-09	17	236				
MYLK	4638	broad.mit.edu	37	3	123451827	123451827	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:123451827G>C	uc003ego.2	-	11	1714	c.1432C>G	c.(1432-1434)CGG>GGG	p.R478G	MYLK_uc011bjw.1_Missense_Mutation_p.R478G|MYLK_uc003egp.2_Intron|MYLK_uc003egq.2_Missense_Mutation_p.R478G|MYLK_uc003egr.2_Intron|MYLK_uc003egs.2_Missense_Mutation_p.R302G	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	478	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCCCTGGTCCGGGCTTTCAGC	0.577		NaN											0	0	0	0.001984	0	6	44				
ROPN1	54763	broad.mit.edu	37	3	123688915	123688915	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:123688915C>A	uc003eha.2	-	6	887	c.546G>T	c.(544-546)AGG>AGT	p.R182S		NM_017578	NP_060048	Q9HAT0	ROP1A_HUMAN	ropporin	182					signal transduction		cAMP-dependent protein kinase regulator activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.148)		AGTTTAGCATCCTGCTGACAT	0.453		NaN											1	0	1.76689e-08	0.006214	2.02436e-08	10	98				
KALRN	8997	broad.mit.edu	37	3	124209673	124209673	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:124209673G>A	uc003ehg.2	+	30	4650	c.4523G>A	c.(4522-4524)AGC>AAC	p.S1508N	KALRN_uc010hrv.1_Missense_Mutation_p.S1499N|KALRN_uc003ehf.1_Missense_Mutation_p.S1508N|KALRN_uc011bjy.1_Missense_Mutation_p.S1499N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1508	PH 1.				apoptosis|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|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						TTGGTTTTTAGCAAGGAGATC	0.498		NaN											0	0	0	0.003954	0	26	54				
OSBPL11	114885	broad.mit.edu	37	3	125250824	125250824	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:125250824C>T	uc003eic.2	-	12	2796	c.2059G>A	c.(2059-2061)GAA>AAA	p.E687K		NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	687					lipid transport		lipid binding			ovary(3)|breast(1)|kidney(1)	5						ATTTCAGATTCTCTCAGCGAG	0.393		NaN											0	0	0	0.00499	0	16	72				
A4GNT	51146	broad.mit.edu	37	3	137843555	137843555	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:137843555T>A	uc003ers.2	-	3	776	c.574A>T	c.(574-576)AAT>TAT	p.N192Y		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	192	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)	1						AATATTCCATTACTAGAGTAC	0.498		NaN											0	0	0	0.006214	0	8	89				
RARRES1	5918	broad.mit.edu	37	3	158428666	158428666	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:158428666G>C	uc003fci.2	-	3	467	c.396C>G	c.(394-396)TTC>TTG	p.F132L	RARRES1_uc003fcj.2_Missense_Mutation_p.F132L	NM_206963	NP_996846	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene	132	Extracellular (Potential).				negative regulation of cell proliferation	integral to membrane					0			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	TCTGATTCTTGAAAAACACTC	0.428		NaN											0	0	0	0.01441	0	48	123				
SEC62	7095	broad.mit.edu	37	3	169710730	169710730	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:169710730G>A	uc003fgg.2	+	8	1110	c.1079G>A	c.(1078-1080)GGA>GAA	p.G360E	SEC62_uc003fgh.2_Missense_Mutation_p.G360E	NM_003262	NP_003253	Q99442	SEC62_HUMAN	translocation protein 1	360	Cytoplasmic (Potential).				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			ovary(1)	1						AGTGGAAATGGAAATGATTTT	0.458		NaN											0	0	0	0.009096	0	4	39				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.004007	0	15	52		Valid		
MCF2L2	23101	broad.mit.edu	37	3	183029466	183029466	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:183029466T>A	uc003fli.1	-	8	938	c.848A>T	c.(847-849)AAC>ATC	p.N283I	MCF2L2_uc003flj.1_Missense_Mutation_p.N283I|MCF2L2_uc003flp.1_Missense_Mutation_p.N318I|MCF2L2_uc011bqs.1_5'Flank	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	283					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTCAAGTTGGTTGAGATTGAG	0.438		NaN											0	0	0	0.012213	0	35	72				
AHSG	197	broad.mit.edu	37	3	186335076	186335076	+	Silent	SNP	C	C	T	rs78152999	byFrequency	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:186335076C>T	uc003fqk.3	+	4	591	c.510C>T	c.(508-510)GCC>GCT	p.A170A	AHSG_uc003fqj.2_Silent_p.A170A|AHSG_uc003fql.3_Silent_p.A171A|AHSG_uc003fqm.3_Silent_p.A169A|AHSG_uc010hyp.2_Silent_p.A133A	NM_001622	NP_001613	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	170	Cystatin fetuin-A-type 2.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649).	acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding				0	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCCTGGCCGCCTTCAACGCTC	0.592		NaN									OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006214	0	10	83				
ATP13A5	344905	broad.mit.edu	37	3	193007837	193007837	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:193007837G>C	uc011bsq.1	-	26	2860	c.2860C>G	c.(2860-2862)CAT>GAT	p.H954D		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	954	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGGTAGGCATGAGTTGAACTC	0.383		NaN											0	0	0	0.001984	0	6	64				
KDR	3791	broad.mit.edu	37	4	55961065	55961065	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr4:55961065G>C	uc003has.2	-	21	3177	c.2875C>G	c.(2875-2877)CTG>GTG	p.L959V	KDR_uc003hat.1_Missense_Mutation_p.L959V	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	959	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CGCCGTTTCAGATCCACAGGG	0.478		NaN	Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			0	0	0	0.010729	0	12	61				
HTN1	3346	broad.mit.edu	37	4	70920139	70920139	+	Missense_Mutation	SNP	G	G	A	rs78945345		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr4:70920139G>A	uc003hex.2	+	4	141	c.74G>A	c.(73-75)AGA>AAA	p.R25K		NM_002159	NP_002150	P15515	HIS1_HUMAN	histatin 1 precursor	25					biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			skin(1)	1						ATTTCATAGAGACATCATGGG	0.289		NaN											0	0	0	0.001168	0	6	15				
GRIA2	2891	broad.mit.edu	37	4	158283999	158283999	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr4:158283999A>G	uc003ipm.3	+	15	2914	c.2455A>G	c.(2455-2457)ATC>GTC	p.I819V	GRIA2_uc011cit.1_Missense_Mutation_p.I772V|GRIA2_uc003ipl.3_Missense_Mutation_p.I819V|GRIA2_uc003ipk.3_Missense_Mutation_p.I772V|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	819	Helical; (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AGTATTCTACATCCTTGTCGG	0.468		NaN											0	0	0	0.001984	0	7	51				
VEGFC	7424	broad.mit.edu	37	4	177713384	177713384	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr4:177713384C>G	uc003ius.1	-	1	512	c.82G>C	c.(82-84)GCC>CCC	p.A28P		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	28					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(5)	5		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		gcggcggcggcggcgggcgcc	0.562		NaN											0	0	0	0.004672	0	3	14				
FAT1	2195	broad.mit.edu	37	4	187524560	187524560	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr4:187524560G>T	uc003izf.2	-	19	11308	c.11120C>A	c.(11119-11121)TCA>TAA	p.S3707*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3707	Extracellular (Potential).				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TTGTTTTGTTGAGATCTGAGC	0.433		NaN								HNSCC(5;0.00058)			1	0	1.58986e-06	0.008291	1.76115e-06	10	28				
TAS2R1	50834	broad.mit.edu	37	5	9629419	9629419	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:9629419C>A	uc003jem.1	-	1	1045	c.726G>T	c.(724-726)ATG>ATT	p.M242I		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	taste receptor T2R1	242	Helical; Name=6; (Potential).				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			ovary(3)	3						AAACTTTTATCATGCAGTGGG	0.478		NaN											1	0	4.68919e-08	0.008291	5.31177e-08	10	50				
TRIO	7204	broad.mit.edu	37	5	14399063	14399063	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:14399063T>G	uc003jff.2	+	30	4504	c.4498T>G	c.(4498-4500)TTA>GTA	p.L1500V	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.L1451V|TRIO_uc003jfh.1_Missense_Mutation_p.L1149V	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1500	PH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					CCCAAAAACCTTAATTCGAAA	0.408		NaN											0	0	0	0.004007	0	17	68				
CWC27	10283	broad.mit.edu	37	5	64314141	64314141	+	Missense_Mutation	SNP	G	G	C	rs143234808		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:64314141G>C	uc003jtn.1	+	14	1631	c.1412G>C	c.(1411-1413)AGA>ACA	p.R471T	CWC27_uc010iwt.1_3'UTR	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN	serologically defined colon cancer antigen 10	471					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity				0						AAAAAAGAAAGAAGATAAAAT	0.388		NaN											0	0	0	0.00245	0	14	44				
OCLN	4950	broad.mit.edu	37	5	68805240	68805240	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:68805240G>A	uc003jwu.2	+	3	759	c.323G>A	c.(322-324)GGA>GAA	p.G108E	OCLN_uc003jwv.3_Missense_Mutation_p.G108E	NM_002538	NP_002529			occludin												0		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CCTTATGGAGGAAGTGGCTTT	0.438		NaN											0	0	0	0.00499	0	18	96				
DMGDH	29958	broad.mit.edu	37	5	78359611	78359611	+	Splice_Site	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:78359611C>G	uc003kfs.2	-	2	108	c.102_splice	c.e2-1	p.G34_splice	DMGDH_uc011ctf.1_Splice_Site|DMGDH_uc011ctg.1_Splice_Site	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor						choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTTTTCCTCTCTGGAAGAGGG	0.448		NaN											0	0	0	0.001855	0	13	54				
VCAN	1462	broad.mit.edu	37	5	82835422	82835422	+	Silent	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:82835422T>A	uc003kii.3	+	8	6956	c.6600T>A	c.(6598-6600)ACT>ACA	p.T2200T	VCAN_uc003kij.3_Silent_p.T1213T|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.T864T	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2200	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTGAAGCTACTGAAAAGTCAC	0.368		NaN											0	0	0	0.004007	0	17	90				
AQPEP	206338	broad.mit.edu	37	5	115350145	115350145	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:115350145G>A	uc003kro.2	+	16	2535	c.2371G>A	c.(2371-2373)GCG>ACG	p.A791T	AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	791	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						TTTTGTAACTGCGTGTTGGTT	0.358		NaN											0	0	0	0.000602	0	5	55				
SEPT8	23176	broad.mit.edu	37	5	132098183	132098183	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:132098183A>T	uc003kxr.2	-	5	927	c.689T>A	c.(688-690)GTC>GAC	p.V230D	SEPT8_uc003kxs.1_Missense_Mutation_p.V230D|SEPT8_uc003kxu.2_Missense_Mutation_p.V230D|SEPT8_uc011cxi.1_Missense_Mutation_p.V228D|SEPT8_uc003kxv.2_Missense_Mutation_p.V228D|SEPT8_uc003kxt.2_Missense_Mutation_p.V170D	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	septin 8 isoform a	230					cell cycle	septin complex	GTP binding|protein binding			ovary(2)	2		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACATTCATGACTGCGTTAAT	0.577		NaN											0	0	0	0.006214	0	8	56				
C5orf24	134553	broad.mit.edu	37	5	134191113	134191113	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:134191113G>T	uc003kzx.2	+	2	584	c.523G>T	c.(523-525)GGG>TGG	p.G175W	C5orf24_uc003kzy.3_Intron|C5orf24_uc003kzz.2_Missense_Mutation_p.G175W	NM_152409	NP_689622	Q7Z6I8	CE024_HUMAN	hypothetical protein LOC134553	175											0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCAGTTCATGGGGTAGAGGA	0.478		NaN											1	0	4.36969e-10	0.001855	5.07897e-10	14	49				
AFAP1L1	134265	broad.mit.edu	37	5	148695811	148695811	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:148695811G>C	uc003lqh.2	+	11	1343	c.1212G>C	c.(1210-1212)AAG>AAC	p.K404N	AFAP1L1_uc010jgy.2_Missense_Mutation_p.K404N|AFAP1L1_uc003lqi.1_Missense_Mutation_p.K19N	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	404							protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGAAGAAGACACTGGCCG	0.612		NaN											0	0	0	0.001984	0	5	68				
CSF1R	1436	broad.mit.edu	37	5	149433917	149433917	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:149433917G>C	uc003lrl.2	-	20	2926	c.2731C>G	c.(2731-2733)CAG>GAG	p.Q911E	CSF1R_uc011dcd.1_Intron|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.Q911E	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	911	Cytoplasmic (Potential).				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GCCTGCTCCTGAAGGAAGGAG	0.622		NaN											0	0	0	0.008871	0	19	35				
FAT2	2196	broad.mit.edu	37	5	150901299	150901299	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:150901299C>A	uc003lue.3	-	18	10868	c.10855G>T	c.(10855-10857)GTG>TTG	p.V3619L	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.V312L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3619	Cadherin 32.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATGCCACACGTACACATGG	0.627		NaN											1	0	0.000602214	0.000602	0.000635495	5	28				
RPL26L1	51121	broad.mit.edu	37	5	172396492	172396492	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:172396492G>C	uc003mcc.2	+	4	428	c.386G>C	c.(385-387)GGA>GCA	p.G129A		NM_016093	NP_057177	Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	129					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome				0	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CGACAAGTTGGAAAAGAGAAA	0.408		NaN											0	0	0	0.000602	0	5	95				
TRIM41	90933	broad.mit.edu	37	5	180661586	180661586	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:180661586G>A	uc003mne.1	+	6	2398	c.1704G>A	c.(1702-1704)ACG>ACA	p.T568T	TRIM41_uc003mnc.1_3'UTR|TRIM41_uc003mnd.1_Intron|TRIM41_uc003mnf.1_Intron|TRIM41_uc003mng.1_Silent_p.T148T	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	tripartite motif-containing 41 isoform 1	568	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding				0	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGAACAGACGCTGCTGAGCC	0.632		NaN											0	0	0	0.000602	0	5	58				
PRL	5617	broad.mit.edu	37	6	22294754	22294754	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:22294754G>C	uc003ndp.2	-	2	607	c.88C>G	c.(88-90)CCC>GCC	p.P30A	PRL_uc003ndo.2_Missense_Mutation_p.P31A|PRL_uc003ndq.2_Missense_Mutation_p.P30A|PRL_uc003ndr.1_RNA	NM_000948	NP_000939	P01236	PRL_HUMAN	prolactin precursor	30					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding				0	Ovarian(93;0.163)					GGACAGATGGGCAAGGGGGCC	0.592		NaN											0	0	0	0.009096	0	4	30				
C6orf10	10665	broad.mit.edu	37	6	32261017	32261017	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:32261017G>A	uc011dpy.1	-	12	1606	c.1433C>T	c.(1432-1434)TCA>TTA	p.S478L	C6orf10_uc011dpx.1_Intron	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	478	Lys-rich.					integral to membrane				skin(1)	1						TAGTACACCTGACTCACTCTT	0.338		NaN											0	0	0	0.00499	0	18	179				
DAXX	1616	broad.mit.edu	37	6	33288742	33288742	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:33288742G>A	uc003oec.2	-	3	1014	c.810C>T	c.(808-810)CGC>CGT	p.R270R	DAXX_uc011drd.1_Silent_p.R195R|DAXX_uc011dre.1_Silent_p.R282R|DAXX_uc003oed.2_Silent_p.R270R|DAXX_uc010juw.2_Silent_p.R195R	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	270					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						GCCGCTCAATGCGCCTGTTAA	0.597		NaN	Mis|F|N		Pancreatic neuroendocrine tumors								0	0	0	0.00623	0	41	59				
BRPF3	27154	broad.mit.edu	37	6	36168216	36168216	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:36168216G>A	uc003olv.3	+	2	341	c.117G>A	c.(115-117)CGG>CGA	p.R39R	BRPF3_uc010jwb.2_Silent_p.R39R|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Silent_p.R39R	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	39					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						AGGCCCAGCGGATTGTCGAGG	0.572		NaN											0	0	0	0.009096	0	4	65				
PPP2R5D	5528	broad.mit.edu	37	6	42974675	42974675	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:42974675C>T	uc003oth.2	+	4	435	c.349C>T	c.(349-351)CTG>TTG	p.L117L	MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Silent_p.L85L|PPP2R5D_uc010jyd.2_Silent_p.L11L|PPP2R5D_uc011dva.1_5'UTR|PPP2R5D_uc003oti.2_5'UTR|PPP2R5D_uc003otj.2_5'UTR	NM_006245	NP_006236	Q14738	2A5D_HUMAN	delta isoform of regulatory subunit B56, protein	117					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(1)|central_nervous_system(1)	2			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCGGGAGGAGCTGTTTATCCA	0.562		NaN											0	0	0	0.004656	0	24	151				
SLC35B2	347734	broad.mit.edu	37	6	44224183	44224183	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:44224183G>A	uc003oxd.2	-	3	392	c.256C>T	c.(256-258)CCC>TCC	p.P86S	SLC35B2_uc011dvt.1_Intron|SLC35B2_uc011dvu.1_Intron	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	solute carrier family 35, member B2	86					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAGGCCTTGGGCTCATTGCCA	0.577		NaN											0	0	0	0.008291	0	11	75				
CRISP2	7180	broad.mit.edu	37	6	49666126	49666126	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:49666126G>A	uc003ozq.2	-	7	622	c.366C>T	c.(364-366)GTC>GTT	p.V122V	CRISP2_uc003ozl.2_Silent_p.V122V|CRISP2_uc003ozn.2_Silent_p.V122V|CRISP2_uc003ozr.2_Silent_p.V122V|CRISP2_uc003ozo.2_Silent_p.V122V|CRISP2_uc003ozm.2_Silent_p.V122V|CRISP2_uc003ozp.2_Silent_p.V122V	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2 precursor	122						extracellular space				skin(1)	1	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTACACCATAGACAAAATCTA	0.413		NaN											0	0	0	0.010729	0	11	69				
TTK	7272	broad.mit.edu	37	6	80746227	80746227	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:80746227C>G	uc003pjc.2	+	17	2034	c.1960C>G	c.(1960-1962)CTG>GTG	p.L654V	TTK_uc003pjb.3_Missense_Mutation_p.L653V	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	654	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AGCTAACTTTCTGATAGTTGA	0.318		NaN											0	0	0	0.000602	0	5	59				
DOPEY1	23033	broad.mit.edu	37	6	83834892	83834892	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:83834892G>C	uc003pjs.1	+	14	1723	c.1463G>C	c.(1462-1464)AGA>ACA	p.R488T	DOPEY1_uc011dyy.1_Missense_Mutation_p.R479T|DOPEY1_uc010kbl.1_Missense_Mutation_p.R479T	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	488					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAGCCTACTAGAAGTATGAGG	0.284		NaN											0	0	0	0.000602	0	4	34				
SIM1	6492	broad.mit.edu	37	6	100838763	100838763	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:100838763A>T	uc003pqj.3	-	11	1982	c.1775T>A	c.(1774-1776)CTG>CAG	p.L592Q	SIM1_uc010kcu.2_Missense_Mutation_p.L592Q	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	592	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AATGGAAGCCAGTTGGTCTGA	0.468		NaN											0	0	0	0.00308	0	8	65				
C6orf170	221322	broad.mit.edu	37	6	121562637	121562637	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:121562637G>C	uc003pyo.1	-	19	2287	c.2219C>G	c.(2218-2220)GCA>GGA	p.A740G	C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Missense_Mutation_p.A259G	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	740					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		AATGCCACCTGCTGCTGTTGA	0.338		NaN											0	0	0	0.001168	0	6	27				
NKAIN2	154215	broad.mit.edu	37	6	124979332	124979332	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:124979332G>C	uc003pzo.2	+	4	551	c.274G>C	c.(274-276)GAA>CAA	p.E92Q	NKAIN2_uc003pzn.1_Missense_Mutation_p.E92Q|NKAIN2_uc003pzp.2_Missense_Mutation_p.E91Q|NKAIN2_uc010keq.2_Intron|NKAIN2_uc010ker.2_Missense_Mutation_p.E2Q	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	T-cell lymphoma breakpoint-associated target 1	92		Breakpoint for interstitial deletion to form SUSP1-NKAIN2.				integral to membrane|plasma membrane					0				GBM - Glioblastoma multiforme(226;0.104)		CTTCTTGCAGGAAACAGACCT	0.428		NaN											0	0	0	0.00308	0	8	38				
GRM1	2911	broad.mit.edu	37	6	146755219	146755219	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:146755219G>C	uc010khw.1	+	9	3342	c.2872G>C	c.(2872-2874)GAG>CAG	p.E958Q	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	958	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TTACAACGTAGAGGAGGAGGA	0.582		NaN											0	0	0	0.010504	0	22	70				
TIAM2	26230	broad.mit.edu	37	6	155500249	155500249	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:155500249C>T	uc003qqb.2	+	13	3873	c.2600C>T	c.(2599-2601)CCT>CTT	p.P867L	TIAM2_uc003qqe.2_Missense_Mutation_p.P867L|TIAM2_uc010kjj.2_Missense_Mutation_p.P400L|TIAM2_uc003qqf.2_Missense_Mutation_p.P243L|TIAM2_uc011efl.1_Missense_Mutation_p.P203L|TIAM2_uc003qqg.2_Missense_Mutation_p.P179L	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	867	RBD.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TATTGCATCCCTGCACCATAT	0.388		NaN											0	0	0	0.004007	0	15	51				
TCP1	6950	broad.mit.edu	37	6	160205738	160205738	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:160205738G>A	uc003qsr.2	-	6	865	c.630C>T	c.(628-630)CTC>CTT	p.L210L	TCP1_uc003qss.2_Silent_p.L55L|TCP1_uc010kjz.2_Silent_p.L210L|TCP1_uc003qst.2_Intron	NM_030752	NP_110379	P17987	TCPA_HUMAN	T-complex protein 1 isoform a	210					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		AGCCACTGATGAGCATACTCT	0.413		NaN											0	0	0	0.006214	0	10	130				
MPP6	51678	broad.mit.edu	37	7	24663374	24663374	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:24663374G>C	uc003swx.2	+	3	387	c.88G>C	c.(88-90)GAG>CAG	p.E30Q	MPP6_uc003swy.2_Missense_Mutation_p.E30Q	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6	30	L27 1.				protein complex assembly		protein binding				0						GGGAATTATGGAGAATCCTAT	0.343		NaN											0	0	0	0.004482	0	7	36				
ABCA13	154664	broad.mit.edu	37	7	48312668	48312668	+	Silent	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:48312668C>A	uc003toq.2	+	17	3430	c.3405C>A	c.(3403-3405)GTC>GTA	p.V1135V	ABCA13_uc010kyr.2_Silent_p.V638V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1135					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CAGCAAATGTCAGTGTGTTCA	0.353		NaN											1	0	1.08611e-07	0.010729	1.22684e-07	12	27				
DTX2	113878	broad.mit.edu	37	7	76126675	76126675	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:76126675C>T	uc003uff.3	+	7	1587	c.1031C>T	c.(1030-1032)TCA>TTA	p.S344L	DTX2_uc011kgk.1_Missense_Mutation_p.S253L|DTX2_uc003ufg.3_Missense_Mutation_p.S344L|DTX2_uc003ufh.3_Missense_Mutation_p.S344L|DTX2_uc003ufj.3_Intron|DTX2_uc003ufk.3_Intron|DTX2_uc003ufl.1_Missense_Mutation_p.S7L|DTX2_uc003ufm.3_5'Flank	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	deltex 2 isoform a	344					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GTTCTGATGTCAGCCATTGGA	0.577		NaN											0	0	0	0.004656	0	22	138				
ZNF498	221785	broad.mit.edu	37	7	99226951	99226951	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:99226951G>C	uc003url.1	+	8	1270	c.943G>C	c.(943-945)GGT>CGT	p.G315R	ZNF498_uc003urm.1_Missense_Mutation_p.G151R|ZNF498_uc010lge.1_Missense_Mutation_p.G151R|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Missense_Mutation_p.G243R|ZNF498_uc003uro.1_Missense_Mutation_p.G99R	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	315					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GCAGGAGCCTGGTGGCCCTGC	0.637		NaN											0	0	0	0.006214	0	9	56				
MUC17	140453	broad.mit.edu	37	7	100675897	100675897	+	Silent	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:100675897C>G	uc003uxp.1	+	3	1253	c.1200C>G	c.(1198-1200)GTC>GTG	p.V400V	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	400	Extracellular (Potential).|59 X approximate tandem repeats.|4.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					ATATGCCTGTCAGCACCATAT	0.463		NaN											0	0	0	0.01441	0	101	235				
MET	4233	broad.mit.edu	37	7	116371801	116371801	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:116371801T>G	uc003vij.2	+	3	1467	c.1280T>G	c.(1279-1281)GTT>GGT	p.V427G	MET_uc010lkh.2_Missense_Mutation_p.V427G|MET_uc011knc.1_Missense_Mutation_p.V427G|MET_uc011knd.1_Missense_Mutation_p.V427G|MET_uc011kne.1_Missense_Mutation_p.V427G|MET_uc011knf.1_Missense_Mutation_p.V427G|MET_uc011kng.1_Missense_Mutation_p.V427G|MET_uc011knh.1_Missense_Mutation_p.V427G|MET_uc011kni.1_Missense_Mutation_p.V427G|MET_uc011knj.1_5'UTR|MET_uc010lkg.2_Missense_Mutation_p.V427G|MET_uc011kna.1_Missense_Mutation_p.V427G|MET_uc011knb.1_Missense_Mutation_p.V427G	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	427	Extracellular (Potential).|Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTGCAGCGCGTTGACTTATTC	0.433		NaN	Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				0	0	0	0.001168	0	5	42				
ST7	7982	broad.mit.edu	37	7	116869938	116869938	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:116869938A>C	uc011knn.1	+	14	1470	c.1465A>C	c.(1465-1467)ACC>CCC	p.T489P	ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	Error:Variant_position_missing_in_Q9NRC1_after_alignment						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCACCTCACCCGCCGCTG	0.507		NaN											0	0	0	0.004878	0	13	37				
CALD1	800	broad.mit.edu	37	7	134635196	134635196	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:134635196G>A	uc003vrz.2	+	9	2325	c.1866G>A	c.(1864-1866)ATG>ATA	p.M622I	CALD1_uc003vry.2_Missense_Mutation_p.M367I|CALD1_uc003vsa.2_Missense_Mutation_p.M393I|CALD1_uc003vsb.2_Missense_Mutation_p.M367I|CALD1_uc010lmm.2_Missense_Mutation_p.M393I|CALD1_uc011kpt.1_Missense_Mutation_p.M141I|CALD1_uc003vsc.2_Missense_Mutation_p.M387I|CALD1_uc003vsd.2_Missense_Mutation_p.M361I|CALD1_uc011kpu.1_Missense_Mutation_p.M372I|CALD1_uc011kpv.1_Missense_Mutation_p.M231I|CALD1_uc003vse.2_Missense_Mutation_p.M486I	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	622					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						GCCAGAAGATGCCAGAAGATG	0.418		NaN											0	0	0	0.000602	0	5	58				
NOM1	64434	broad.mit.edu	37	7	156743110	156743110	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:156743110A>G	uc003wmy.2	+	1	694	c.679A>G	c.(679-681)AAA>GAA	p.K227E		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	227	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GGAGTCTGGGAAAAATAGCGG	0.522		NaN											0	0	0	0.004007	0	13	74				
PSD3	23362	broad.mit.edu	37	8	18393456	18393456	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:18393456C>A	uc003wza.2	-	16	3044	c.2941G>T	c.(2941-2943)GAA>TAA	p.E981*	PSD3_uc003wyx.3_Nonsense_Mutation_p.E310*|PSD3_uc003wyy.2_Nonsense_Mutation_p.E447*|PSD3_uc003wyz.2_Nonsense_Mutation_p.E282*	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	982					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACATACATTTCATAGCGGGTT	0.483		NaN											1	0	0.000673444	0.008291	0.00070694	10	38				
KCNU1	157855	broad.mit.edu	37	8	36722033	36722034	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:36722033_36722034CC>AG	uc010lvw.2	+	19	2090_2091	c.2003_2004CC>AG	c.(2002-2004)ACC>AAG	p.T668K	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	668	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCAAACTTCACCACCAGGTAAA	0.401		NaN											0	0	0	0.004672	0	25	54				
ANK1	286	broad.mit.edu	37	8	41572563	41572563	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:41572563G>T	uc003xok.2	-	15	1716	c.1632C>A	c.(1630-1632)GCC>GCA	p.A544A	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.A544A|ANK1_uc003xoj.2_Silent_p.A544A|ANK1_uc003xol.2_Silent_p.A544A|ANK1_uc003xom.2_Silent_p.A577A	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	544	89 kDa domain.|ANK 16.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCCCGTACTTGGCCGCCACGT	0.627		NaN											1	0	0.000602214	0.000602	0.000635495	4	55				
CHD7	55636	broad.mit.edu	37	8	61767054	61767054	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:61767054G>A	uc003xue.2	+	32	7385	c.6908G>A	c.(6907-6909)AGA>AAA	p.R2303K		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2303					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTTCATGAAAGAACATTTGCC	0.443		NaN											0	0	0	0.00308	0	8	52		Valid		
DNAJC5B	85479	broad.mit.edu	37	8	66963856	66963856	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:66963856G>C	uc003xvs.1	+	3	365	c.74G>C	c.(73-75)GGT>GCT	p.G25A	DNAJC5B_uc003xvt.1_RNA	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	25	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			GAAATTCTTGGTCTGCATAAG	0.398		NaN											0	0	0	0.003163	0	14	78				
RAD21	5885	broad.mit.edu	37	8	117866648	117866648	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:117866648C>G	uc003yod.2	-	9	1285	c.997G>C	c.(997-999)GAT>CAT	p.D333H		NM_006265	NP_006256	O60216	RAD21_HUMAN	RAD21 homolog	333	Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			lung(1)|skin(1)	2	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GTCTTGCTATCCAACTCTTTG	0.378		NaN											0	0	0	0.010771	0	41	88				
TAF2	6873	broad.mit.edu	37	8	120790295	120790295	+	Silent	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:120790295T>C	uc003you.2	-	18	2598	c.2328A>G	c.(2326-2328)TTA>TTG	p.L776L		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	776					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGATTAAGTCTAAAATAAATG	0.264		NaN											0	0	0	0.000602	0	5	20				
MTSS1	9788	broad.mit.edu	37	8	125577982	125577982	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:125577982C>T	uc003yrk.2	-	9	1279	c.745G>A	c.(745-747)GGT>AGT	p.G249S	NDUFB9_uc011lim.1_Intron|MTSS1_uc011lin.1_5'UTR|MTSS1_uc011lio.1_Missense_Mutation_p.G139S|MTSS1_uc003yri.2_Missense_Mutation_p.G49S|MTSS1_uc003yrj.2_Missense_Mutation_p.G249S|MTSS1_uc003yrl.2_Missense_Mutation_p.G253S	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	249	IMD.|Ser-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TAATCAGAACCTTTCAAGTCC	0.542		NaN											0	0	0	0.004672	0	3	31				
MYC	4609	broad.mit.edu	37	8	128750529	128750529	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:128750529C>A	uc003ysh.1	+	3	534	c.21C>A	c.(19-21)TTC>TTA	p.F7L	MYC_uc003ysi.2_Missense_Mutation_p.F22L	NM_002467	NP_002458	P01106	MYC_HUMAN	myc proto-oncogene protein	7				SF -> TI (in Ref. 5; no nucleotide entry).	branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		ACGTTAGCTTCACCAACAGGA	0.587		3	A|T	IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@	Burkitt lymphoma| amplified in other cancers|B-CLL						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1.08312e-15	0.009535	1.29651e-15	29	61				
TG	7038	broad.mit.edu	37	8	133948082	133948082	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:133948082G>A	uc003ytw.2	+	25	5055	c.5014G>A	c.(5014-5016)GAT>AAT	p.D1672N	TG_uc010mdw.2_Missense_Mutation_p.D431N|TG_uc011ljb.1_Missense_Mutation_p.D105N	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1672	Type IIIA.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCATGGTCAAGATTCTCCAGC	0.527		NaN											0	0	0	0.00308	0	8	34				
ST3GAL1	6482	broad.mit.edu	37	8	134475669	134475669	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:134475669C>T	uc003yuk.2	-	8	1546	c.717G>A	c.(715-717)GTG>GTA	p.V239V	ST3GAL1_uc003yum.2_Silent_p.V239V	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	239	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			TATCCTGTTTCACTCTGATCT	0.547		NaN											0	0	0	0.009096	0	3	17				
CPSF1	29894	broad.mit.edu	37	8	145624759	145624759	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:145624759C>T	uc003zcj.2	-	14	1374	c.1299G>A	c.(1297-1299)GCG>GCA	p.A433A		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	433					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCGACTTACCCGCAGCTGCAC	0.657		NaN											0	0	0	0.001984	0	7	22				
CDC37L1	55664	broad.mit.edu	37	9	4679834	4679834	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:4679834G>C	uc003zio.2	+	1	277	c.67G>C	c.(67-69)GAG>CAG	p.E23Q		NM_017913	NP_060383	Q7L3B6	CD37L_HUMAN	cell division cycle 37 homolog (S.	23	Self-association.					cytoplasm					0	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		GGCTGAGGAAGAGAGTGACTT	0.697		NaN									OREG0019085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001984	0	7	40				
TEK	7010	broad.mit.edu	37	9	27197331	27197331	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:27197331G>C	uc003zqi.3	+	12	2085	c.1643G>C	c.(1642-1644)GGT>GCT	p.G548A	TEK_uc011lno.1_Missense_Mutation_p.G505A|TEK_uc011lnp.1_Missense_Mutation_p.G401A|TEK_uc003zqj.1_Missense_Mutation_p.G482A	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	548	Extracellular (Potential).|Fibronectin type-III 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CCTCCAAGAGGTCTAAATCTC	0.318		NaN											0	0	0	0.00308	0	8	72				
CCL27	10850	broad.mit.edu	37	9	34662358	34662358	+	Silent	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:34662358G>C	uc003zvm.1	-	2	185	c.126C>G	c.(124-126)CTC>CTG	p.L42L		NM_006664	NP_006655	Q9Y4X3	CCL27_HUMAN	small inducible cytokine A27 precursor	42					cell-cell signaling|chemotaxis|immune response	extracellular space	chemokine activity				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GCTTGTCTGAGAGTGGCTTTC	0.567		NaN											0	0	0	0.008291	0	9	27				
UNC13B	10497	broad.mit.edu	37	9	35396570	35396570	+	Silent	SNP	C	C	T	rs150684985		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:35396570C>T	uc003zwq.2	+	26	3451	c.3159C>T	c.(3157-3159)GTC>GTT	p.V1053V	UNC13B_uc003zwr.2_Silent_p.V1053V	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	1053	MHD1.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	p.V1053V(1)		ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ATCTGCCTGTCCTCCAGGGGC	0.547		NaN											0	0	0	0.014323	0	23	51				
GDA	9615	broad.mit.edu	37	9	74856157	74856157	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:74856157G>A	uc004aiq.2	+	11	1261	c.1078G>A	c.(1078-1080)GAG>AAG	p.E360K	GDA_uc011lse.1_Missense_Mutation_p.E286K|GDA_uc011lsf.1_Missense_Mutation_p.E286K|GDA_uc004air.2_Missense_Mutation_p.E360K|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.E282K	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN	guanine deaminase	360					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TAAGGTAAATGAGAAAAGCCT	0.403		NaN											0	0	0	0.001168	0	6	55				
VPS13A	23230	broad.mit.edu	37	9	79974283	79974283	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:79974283G>C	uc004akr.2	+	58	8330	c.8070G>C	c.(8068-8070)ATG>ATC	p.M2690I	VPS13A_uc004akp.3_Missense_Mutation_p.M2690I|VPS13A_uc004akq.3_Missense_Mutation_p.M2690I|VPS13A_uc004aks.2_Missense_Mutation_p.M2651I	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2690					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						GTATTGTCATGAGATCTGCAG	0.308		NaN											0	0	0	0.009096	0	4	21				
ZCCHC6	79670	broad.mit.edu	37	9	88967883	88967883	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:88967883C>T	uc004aoq.2	-	2	447	c.232G>A	c.(232-234)GCA>ACA	p.A78T	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.A78T|ZCCHC6_uc004aou.2_Missense_Mutation_p.A78T|ZCCHC6_uc004aov.2_Missense_Mutation_p.A78T|ZCCHC6_uc004aow.2_Missense_Mutation_p.A78T|ZCCHC6_uc010mqf.1_Missense_Mutation_p.A78T	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	78					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						TTTTTAAATGCATATGGATTG	0.418		NaN											0	0	0	0.003163	0	15	144				
TDRD7	23424	broad.mit.edu	37	9	100245529	100245529	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:100245529G>A	uc004axj.2	+	15	3036	c.2811G>A	c.(2809-2811)AAG>AAA	p.K937K	TDRD7_uc011lux.1_Silent_p.K863K|TDRD7_uc010msp.1_Silent_p.K189K|TDRD7_uc011luy.1_Silent_p.K257K	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	937	Interacts with CDK17 (By similarity).|Interacts with CABLES1 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)				AGATACATAAGTTGGAAGTTC	0.478		NaN											0	0	0	0.001168	0	6	75				
PAPPA	5069	broad.mit.edu	37	9	118950282	118950282	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:118950282A>G	uc004bjn.2	+	2	1646	c.1265A>G	c.(1264-1266)GAG>GGG	p.E422G	PAPPA_uc011lxp.1_Missense_Mutation_p.E215G|PAPPA_uc011lxq.1_Missense_Mutation_p.E215G	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	422	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						ATTGGGGATGAGAACTGTGAC	0.627		NaN											0	0	0	0.007413	0	19	36				
STRBP	55342	broad.mit.edu	37	9	125898437	125898437	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:125898437G>C	uc004bns.2	-	16	2086	c.1656C>G	c.(1654-1656)TTC>TTG	p.F552L	STRBP_uc004bnt.2_Missense_Mutation_p.F370L|STRBP_uc004bnu.2_Missense_Mutation_p.F538L|STRBP_uc004bnv.2_Missense_Mutation_p.F552L|STRBP_uc004bnr.2_Missense_Mutation_p.F111L	NM_018387	NP_060857	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	552	DRBM 2.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|skin(1)	2						CTGCGCCTCTGAATTTCTGTC	0.393		NaN											0	0	0	0.006214	0	10	71				
SH2D3C	10044	broad.mit.edu	37	9	130507349	130507349	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:130507349G>T	uc004bsc.2	-	7	1436	c.1294C>A	c.(1294-1296)CCT>ACT	p.P432T	SH2D3C_uc010mxo.2_Missense_Mutation_p.P272T|SH2D3C_uc004bry.2_Missense_Mutation_p.P274T|SH2D3C_uc004brz.3_Missense_Mutation_p.P78T|SH2D3C_uc011mak.1_Missense_Mutation_p.P78T|SH2D3C_uc004bsa.2_Missense_Mutation_p.P275T|SH2D3C_uc004bsb.2_Missense_Mutation_p.P364T	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	432					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						GTGGCAGAAGGGGCTGCAGGG	0.627		NaN											1	0	3.27435e-08	0.00245	3.71959e-08	15	27				
PKN3	29941	broad.mit.edu	37	9	131475651	131475651	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:131475651C>T	uc004bvw.2	+	8	1470	c.1077C>T	c.(1075-1077)GTC>GTT	p.V359V	PKN3_uc010myh.2_Silent_p.V359V|PKN3_uc011mbk.1_5'UTR	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	protein kinase PKNbeta	359					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			stomach(2)|lung(2)	4						AGACCTTTGTCATCCCACTGG	0.652		NaN											0	0	0	0.004482	0	8	31				
EDA	1896	broad.mit.edu	37	X	69255458	69255458	+	Nonstop_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:69255458A>G	uc004dxs.2	+	8	1417	c.1175A>G	c.(1174-1176)TAG>TGG	p.*392W	EDA_uc004dxr.2_Nonstop_Mutation_p.*390W|EDA_uc011mpj.1_Nonstop_Mutation_p.*387W	NM_001399	NP_001390	Q92838	EDA_HUMAN	ectodysplasin A isoform EDA-A1	392					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			ovary(2)|large_intestine(1)	3						CCTGCATCCTAGATTCCCCCC	0.567		NaN											0	0	0	0.009535	0	31	34				
ITGB1BP2	26548	broad.mit.edu	37	X	70522288	70522288	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:70522288G>A	uc004dzr.1	+	4	228	c.199G>A	c.(199-201)GAG>AAG	p.E67K	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Missense_Mutation_p.E49K	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein 2	67					muscle organ development|signal transduction		SH3 domain binding			ovary(1)	1	Renal(35;0.156)					ACACTGTGCTGAGAAGCTTCC	0.458		NaN											0	0	0	0.004482	0	8	16				
IL13RA1	3597	broad.mit.edu	37	X	117892057	117892057	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:117892057C>T	uc004eqs.2	+	5	571	c.528C>T	c.(526-528)ATC>ATT	p.I176I	IL13RA1_uc004eqr.1_Silent_p.I176I|IL13RA1_uc004eqt.1_Silent_p.I176I	NM_001560	NP_001551	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1 precursor	176	Extracellular (Potential).					interleukin-13 receptor complex	cytokine receptor activity				0						GTGAAAACATCTTTAGAGAAG	0.348		NaN											0	0	0	0.006122	0	18	46				
IL13RA1	3597	broad.mit.edu	37	X	117900535	117900535	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:117900535G>A	uc004eqs.2	+	7	914	c.871G>A	c.(871-873)GTG>ATG	p.V291M	IL13RA1_uc004eqt.1_Missense_Mutation_p.V291M	NM_001560	NP_001551	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1 precursor	291	Extracellular (Potential).					interleukin-13 receptor complex	cytokine receptor activity				0						TGAGAGAAATGTGGAGGTCAG	0.333		NaN											0	0	0	0.00333	0	22	32				
DCAF12L2	340578	broad.mit.edu	37	X	125298848	125298848	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:125298848G>C	uc004euk.1	-	1	1087	c.1060C>G	c.(1060-1062)CGG>GGG	p.R354G		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	354	WD 4.									lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						CTCAGCGACCGCACGCCTGTG	0.637		NaN											0	0	0	0.004482	0	9	40				
SMARCA1	6594	broad.mit.edu	37	X	128614761	128614761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:128614761G>A	uc004eun.3	-	19	2472	c.2359C>T	c.(2359-2361)CAG>TAG	p.Q787*	SMARCA1_uc004eup.3_Nonsense_Mutation_p.Q775*|SMARCA1_uc011muk.1_Nonsense_Mutation_p.Q787*|SMARCA1_uc011mul.1_Nonsense_Mutation_p.Q775*	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	787					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			ovary(3)|skin(1)	4						TGAAAATCCTGAACATTTGGC	0.343		NaN											0	0	0	0.00245	0	13	12				
TKTL1	8277	broad.mit.edu	37	X	153539540	153539540	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:153539540C>T	uc004fkg.2	+	5	807	c.621C>T	c.(619-621)CAC>CAT	p.H207H	TKTL1_uc011mzl.1_Silent_p.H201H|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Silent_p.H151H	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	207					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGTGAAGCACAAGCCCACTG	0.587		NaN											0	0	0	0.003954	0	25	82				
TKTL1	8277	broad.mit.edu	37	X	153539541	153539541	+	Nonsense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:153539541A>T	uc004fkg.2	+	5	808	c.622A>T	c.(622-624)AAG>TAG	p.K208*	TKTL1_uc011mzl.1_Nonsense_Mutation_p.K202*|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Nonsense_Mutation_p.K152*	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	208					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTGAAGCACAAGCCCACTGC	0.587		NaN											0	0	0	0.003954	0	25	83				
ADAMTS8	11095	broad.mit.edu	37	11	130286913	130286925	+	Frame_Shift_Del	DEL	TGGTCCCGATGTC	TGGTCCCGATGTC	-			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:130286913_130286925delTGGTCCCGATGTC	uc001qgg.3	-	3	1364_1376	c.1006_1018delGACATCGGGACCA	c.(1006-1020)GACATCGGGACCATTfs	p.D336fs		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	336_340	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGGTCACAAATGGTCCCGATGTCTGCCACACCC	0.601		NaN											NaN	NaN	NaN	NaN	NaN	8	136	---		---	---
RASSF3	283349	broad.mit.edu	37	12	65088574	65088583	+	Frame_Shift_Del	DEL	ATTTCTTGCG	ATTTCTTGCG	-	rs147804503		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:65088574_65088583delATTTCTTGCG	uc001ssd.2	+	5	719_728	c.599_608delATTTCTTGCG	c.(598-609)AATTTCTTGCGCfs	p.N200fs	RASSF3_uc009zqn.2_RNA|RASSF3_uc001sse.2_Frame_Shift_Del_p.N130fs	NM_178169	NP_835463	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family	200_203	SARAH.				signal transduction	cytoplasm|microtubule	identical protein binding				0			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		GAACTACAGAATTTCTTGCGCATCTTGGAC	0.481		NaN											NaN	NaN	NaN	NaN	NaN	14	74	---		---	---
CRY1	1407	broad.mit.edu	37	12	107393605	107393606	+	Frame_Shift_Ins	INS	-	-	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:107393605_107393606insT	uc001tmi.3	-	7	1719_1720	c.860_861insA	c.(859-861)TATfs	p.Y287fs		NM_004075	NP_004066	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	287	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			ovary(3)	3						ACAGTTGCCCATAAAGGGAAAG	0.351		NaN											NaN	NaN	NaN	NaN	NaN	19	55	---		---	---
PIPOX	51268	broad.mit.edu	37	17	27380490	27380490	+	Frame_Shift_Del	DEL	C	C	-			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:27380490delC	uc002hdr.1	+	4	863	c.537delC	c.(535-537)AACfs	p.N179fs		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	179					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity				0	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TGGAGATAAACCCAGGGCTAC	0.542		NaN											NaN	NaN	NaN	NaN	NaN	7	90	---		---	---
KIAA1267	284058	broad.mit.edu	37	17	44248783	44248783	+	Frame_Shift_Del	DEL	G	G	-	rs142096969	byFrequency	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:44248783delG	uc002ikb.2	-	1	812	c.727delC	c.(727-729)CAAfs	p.Q243fs	KIAA1267_uc002ikc.2_Frame_Shift_Del_p.Q243fs|KIAA1267_uc002ikd.2_Frame_Shift_Del_p.Q243fs|KIAA1267_uc010dav.2_Frame_Shift_Del_p.Q243fs	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	243						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				CTGCTTCCTTGAAGTGCCGGC	0.438		NaN											NaN	NaN	NaN	NaN	NaN	12	138	---		---	---
KCNJ16	3773	broad.mit.edu	37	17	68129040	68129055	+	Frame_Shift_Del	DEL	TAGCCAAAGATAACTT	TAGCCAAAGATAACTT	-			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:68129040_68129055delTAGCCAAAGATAACTT	uc002jin.2	+	5	1298_1313	c.812_827delTAGCCAAAGATAACTT	c.(811-828)GTAGCCAAAGATAACTTTfs	p.V271fs	KCNJ16_uc002jio.2_Frame_Shift_Del_p.V271fs|KCNJ16_uc002jip.2_Frame_Shift_Del_p.V271fs|KCNJ16_uc002jiq.2_Frame_Shift_Del_p.V303fs	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	271_276	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Breast(10;2.96e-09)					CGCAAAGCAGTAGCCAAAGATAACTTTGAGATTTTG	0.449		NaN											NaN	NaN	NaN	NaN	NaN	10	139	---		---	---
CEP68	23177	broad.mit.edu	37	2	65299062	65299073	+	In_Frame_Del	DEL	CTGCCAGATTCC	CTGCCAGATTCC	-			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:65299062_65299073delCTGCCAGATTCC	uc002sdl.3	+	3	1046_1057	c.832_843delCTGCCAGATTCC	c.(832-843)CTGCCAGATTCCdel	p.LPDS278del	CEP68_uc002sdj.2_In_Frame_Del_p.LPDS278del|CEP68_uc010yqb.1_In_Frame_Del_p.LPDS278del|CEP68_uc002sdk.3_In_Frame_Del_p.LPDS278del|CEP68_uc010yqc.1_In_Frame_Del_p.LPDS278del|CEP68_uc010yqd.1_In_Frame_Del_p.LPDS278del	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	278_281					centrosome organization	centrosome				skin(1)	1						GGCCTGTGTGCTGCCAGATTCCCTGCCTCCAT	0.594		NaN											NaN	NaN	NaN	NaN	NaN	8	134	---		---	---
NAT8	9027	broad.mit.edu	37	2	73868318	73868337	+	Frame_Shift_Del	DEL	ACTGTCCACAAAGAGATGAA	ACTGTCCACAAAGAGATGAA	-	rs13538	byFrequency	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:73868318_73868337delACTGTCCACAAAGAGATGAA	uc002sji.1	-	2	586_605	c.419_438delTTCATCTCTTTGTGGACAGT	c.(418-438)TTTCATCTCTTTGTGGACAGTfs	p.F140fs		NM_003960	NP_003951	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8	140_146	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			ovary(1)	1						GACGGTGCTCACTGTCCACAAAGAGATGAAACAGCTGCAA	0.568		NaN											NaN	NaN	NaN	NaN	NaN	8	76	---		---	---
GCC2	9648	broad.mit.edu	37	2	109086923	109086924	+	Frame_Shift_Ins	INS	-	-	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:109086923_109086924insG	uc002tec.2	+	6	1292_1293	c.1138_1139insG	c.(1138-1140)CGGfs	p.R380fs	GCC2_uc002ted.2_Frame_Shift_Ins_p.R279fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	380	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						TTTTCATGAACGGGAAGACTTA	0.282		NaN											NaN	NaN	NaN	NaN	NaN	35	78	---		---	---
OR2A12	346525	broad.mit.edu	37	7	143793122	143793127	+	In_Frame_Del	DEL	AGATCA	AGATCA	-			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:143793122_143793127delAGATCA	uc011kty.1	+	1	922_927	c.922_927delAGATCA	c.(922-927)AGATCAdel	p.RS308del		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A,	308_309	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	Melanoma(164;0.0783)					TTGGAAACAGAGATCAATGTGAAGAA	0.427		NaN											NaN	NaN	NaN	NaN	NaN	7	141	---		---	---
