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
KCNA10	3744	broad.mit.edu	37	1	111061291	111061291	+	Missense_Mutation	SNP	C	C	T	rs139383016		TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:111061291C>T	uc001dzt.1	-	1	507	c.119G>A	c.(118-120)CGG>CAG	p.R40Q		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	40						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCCCCCAGGCCGGCCTTTTGG	0.532000												
SYT6	148281	broad.mit.edu	37	1	114682265	114682265	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:114682265G>A	uc001eev.2	-	2	479	c.229C>T	c.(229-231)CAA>TAA	p.Q77*		NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN	synaptotagmin VI	162	Cytoplasmic (Potential).				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTGTAGTTTGCCGCTGCAGC	0.592000												
UBAP2L	9898	broad.mit.edu	37	1	154223741	154223741	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:154223741C>T	uc001fep.3	+	13	1605	c.1438C>T	c.(1438-1440)CCG>TCG	p.P480S	UBAP2L_uc009wot.2_Missense_Mutation_p.P480S|UBAP2L_uc010pek.1_Missense_Mutation_p.P472S|UBAP2L_uc010pel.1_Missense_Mutation_p.P490S|UBAP2L_uc010pen.1_Missense_Mutation_p.P394S	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	480					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAGCCCTCAGCCGGCTCAGCA	0.502000												
RGS7	6000	broad.mit.edu	37	1	240966205	240966205	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:240966205T>G	uc001hyv.2	-	16	1688	c.1358A>C	c.(1357-1359)AAG>ACG	p.K453T	RGS7_uc010pyh.1_Missense_Mutation_p.K427T|RGS7_uc010pyj.1_Missense_Mutation_p.K369T|RGS7_uc001hyu.2_Missense_Mutation_p.K453T|RGS7_uc009xgn.1_Missense_Mutation_p.K400T|RGS7_uc001hyw.2_Missense_Mutation_p.K453T|RGS7_uc001hyt.2_Missense_Mutation_p.K285T	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	453					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AACCAGTACCTTTTTCTTTGC	0.363000												
SPAG6	9576	broad.mit.edu	37	10	22657513	22657513	+	Silent	SNP	A	A	C			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr10:22657513A>C	uc001iri.2	+	4	520	c.378A>C	c.(376-378)GCA>GCC	p.A126A	SPAG6_uc001irj.2_Silent_p.A126A|SPAG6_uc010qct.1_Silent_p.A96A|SPAG6_uc009xkh.2_Silent_p.A104A	NM_012443	NP_036575	O75602	SPAG6_HUMAN	sperm associated antigen 6 isoform 1	126	ARM 3.				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1						ATTGTGGAGCACTGGATACGC	0.478000												
COX15	1355	broad.mit.edu	37	10	101483725	101483725	+	Silent	SNP	G	G	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr10:101483725G>A	uc001kqb.3	-	5	1355	c.738C>T	c.(736-738)CTC>CTT	p.L246L	COX15_uc001kqc.3_Silent_p.L246L|COX15_uc010qpj.1_Silent_p.L67L	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	COX15 homolog isoform 1	246	Helical; (Potential).				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TGTGCGGAGGGAGTAGCAGTG	0.338000												
HSPA12A	259217	broad.mit.edu	37	10	118434813	118434813	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr10:118434813G>A	uc001lct.2	-	12	1612	c.1507C>T	c.(1507-1509)CGG>TGG	p.R503W	HSPA12A_uc001lcu.2_Missense_Mutation_p.R420W	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	503							ATP binding			ovary(1)	1				all cancers(201;0.0158)		ATGATGATCCGGCACTGGTCC	0.672000												
OR4C16	219428	broad.mit.edu	37	11	55339628	55339628	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr11:55339628G>A	uc010rih.1	+	1	25	c.25G>A	c.(25-27)GAG>AAG	p.E9K		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)				TAATGTGACTGAGTTCATTCT	0.373000												
RASGRP2	10235	broad.mit.edu	37	11	64510268	64510268	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr11:64510268A>G	uc009ypu.2	-	2	298	c.71T>C	c.(70-72)TTC>TCC	p.F24S	RASGRP2_uc001oat.2_5'Flank|RASGRP2_uc001oau.2_5'Flank|RASGRP2_uc009ypv.2_Missense_Mutation_p.F24S|RASGRP2_uc009ypw.2_Missense_Mutation_p.F24S|RASGRP2_uc001oaw.1_Missense_Mutation_p.S327P	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	24	N-terminal Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity				0						CCACTCACCGAAGGCTTCGAT	0.726000												
PAK1	5058	broad.mit.edu	37	11	77070042	77070042	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr11:77070042C>G	uc001oyh.3	-	6	1031	c.498G>C	c.(496-498)GAG>GAC	p.E166D	PAK1_uc010rso.1_Missense_Mutation_p.E68D|PAK1_uc001oyg.3_Missense_Mutation_p.E166D|PAK1_uc001oyi.1_Missense_Mutation_p.E166D|PAK1_uc010rsn.1_5'UTR	NM_002576	NP_002567	Q13153	PAK1_HUMAN	p21-activated kinase 1 isoform 2	166	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			skin(2)|stomach(1)|lung(1)	4	all_cancers(14;1.75e-18)					CTGCAGGAGTCTCAGACACAG	0.443000												
FOLH1B	219595	broad.mit.edu	37	11	89403629	89403629	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr11:89403629G>A	uc001pda.2	+	4	693	c.167G>A	c.(166-168)GGA>GAA	p.G56E		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	56					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6						ACTCTCAGAGGAGCAGTGGAA	0.239000												
TMCC3	57458	broad.mit.edu	37	12	94976263	94976263	+	Missense_Mutation	SNP	C	C	T	rs151064246		TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr12:94976263C>T	uc001tdj.2	-	2	248	c.130G>A	c.(130-132)GGG>AGG	p.G44R	TMCC3_uc001tdi.2_Missense_Mutation_p.G13R	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	44						integral to membrane				ovary(1)|skin(1)	2						TCTGACCCCCCTCGGCGTATG	0.453000												
GPR133	283383	broad.mit.edu	37	12	131569149	131569149	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr12:131569149G>A	uc001uit.3	+	15	2171	c.1612G>A	c.(1612-1614)GTC>ATC	p.V538I	GPR133_uc010tbm.1_Missense_Mutation_p.V570I|GPR133_uc009zyo.2_5'UTR|GPR133_uc001uiv.1_Missense_Mutation_p.V57I	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	538	GPS.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CACCTACTCCGTCTGCCGCTG	0.622000												
EP400	57634	broad.mit.edu	37	12	132551418	132551418	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr12:132551418G>A	uc001ujn.2	+	48	8688	c.8653G>A	c.(8653-8655)GTC>ATC	p.V2885I	EP400_uc001ujl.2_Missense_Mutation_p.V2884I|EP400_uc001ujm.2_Missense_Mutation_p.V2804I|EP400_uc001ujp.2_Missense_Mutation_p.V95I	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2921					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.P2885P(1)		central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGTGGTGTCCGTCCCGGCAGC	0.682000												
FAM124A	220108	broad.mit.edu	37	13	51854758	51854758	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr13:51854758C>T	uc001vfg.1	+	4	1138	c.1007C>T	c.(1006-1008)CCT>CTT	p.P336L	FAM124A_uc001vff.1_Missense_Mutation_p.P372L	NM_145019	NP_659456	Q86V42	F124A_HUMAN	hypothetical protein LOC220108	336										central_nervous_system(1)	1		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		ACAGGCCTGCCTCCTGGGCAC	0.617000												
OR4N4	283694	broad.mit.edu	37	15	22383082	22383082	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr15:22383082G>C	uc001yuc.1	+	7	1591	c.610G>C	c.(610-612)GGC>CGC	p.G204R	LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.G204R	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTTCAACAGTGGCCTGATGAC	0.522000												
AP3B2	8120	broad.mit.edu	37	15	83349607	83349607	+	Silent	SNP	G	G	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr15:83349607G>A	uc010uoh.1	-	7	930	c.753C>T	c.(751-753)TTC>TTT	p.F251F	AP3B2_uc010uoi.1_Silent_p.F251F|AP3B2_uc010uoj.1_Silent_p.F219F|AP3B2_uc010uog.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	251					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGGGGCTCAGGAACTGCGTGC	0.647000												
AKAP13	11214	broad.mit.edu	37	15	86077059	86077059	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr15:86077059C>G	uc002blv.1	+	4	596	c.426C>G	c.(424-426)CAC>CAG	p.H142Q	AKAP13_uc002bls.2_Missense_Mutation_p.H142Q|AKAP13_uc002blt.1_Missense_Mutation_p.H142Q|AKAP13_uc002blu.1_Missense_Mutation_p.H142Q	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	142					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						CATTCAGGCACCTGAAGCTGC	0.448000												
SPSB3	90864	broad.mit.edu	37	16	1831391	1831391	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr16:1831391A>G	uc002cmr.2	-	1	127	c.94T>C	c.(94-96)TCC>CCC	p.S32P	NUBP2_uc002cmw.3_5'Flank|NUBP2_uc002cmx.3_5'Flank|NUBP2_uc010brx.2_5'Flank|SPSB3_uc002cms.2_5'UTR|SPSB3_uc002cmt.2_5'UTR|SPSB3_uc002cmu.2_Missense_Mutation_p.S32P|SPSB3_uc002cmv.2_5'UTR|SPSB3_uc010uvm.1_Missense_Mutation_p.S32P	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box	32					intracellular signal transduction						0						CAGTTAGTGGAGCCTGCTAGA	0.672000												
KIAA0100	9703	broad.mit.edu	37	17	26965392	26965392	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr17:26965392C>T	uc002hbu.2	-	13	1489	c.1390G>A	c.(1390-1392)GTC>ATC	p.V464I		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	464						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					ACAGTTAGGACGCCCCGCTGA	0.567000												
TOP2A	7153	broad.mit.edu	37	17	38560458	38560458	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr17:38560458C>A	uc002huq.2	-	19	2355	c.2229G>T	c.(2227-2229)AAG>AAT	p.K743N		NM_001067	NP_001058	P11388	TOP2A_HUMAN	DNA topoisomerase II, alpha isozyme	743					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	ATTGGGCAACCTTTACTTCTC	0.378000												
CDH2	1000	broad.mit.edu	37	18	25585844	25585844	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr18:25585844C>A	uc002kwg.2	-	6	1275	c.816G>T	c.(814-816)TGG>TGT	p.W272C	CDH2_uc010xbn.1_Missense_Mutation_p.W241C	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	272	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.W272R(1)		ovary(3)|lung(1)	4						CTGTCCCATTCCAAACCTGGT	0.388000												
ZNF554	115196	broad.mit.edu	37	19	2834817	2834817	+	Silent	SNP	G	G	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr19:2834817G>A	uc002lwm.2	+	5	1782	c.1584G>A	c.(1582-1584)GCG>GCA	p.A528A	ZNF554_uc002lwl.2_Silent_p.A477A	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGGAAAGCGTTCTACCAGA	0.428000												
RANBP3	8498	broad.mit.edu	37	19	5917945	5917945	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr19:5917945C>T	uc002mdw.2	-	16	1747	c.1520G>A	c.(1519-1521)CGC>CAC	p.R507H	RANBP3_uc002mdv.2_Missense_Mutation_p.R226H|RANBP3_uc002mdx.2_Missense_Mutation_p.R502H|RANBP3_uc002mdy.2_Missense_Mutation_p.R439H|RANBP3_uc002mdz.2_Missense_Mutation_p.R434H|RANBP3_uc010duq.2_Missense_Mutation_p.R412H|RANBP3_uc002mea.2_Missense_Mutation_p.R374H|RANBP3_uc010xix.1_Missense_Mutation_p.R379H	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	507	RanBD1.				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1						GGCCAGGATGCGGTGGTGCAG	0.682000												
MAST1	22983	broad.mit.edu	37	19	12969492	12969492	+	Silent	SNP	C	C	T			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr19:12969492C>T	uc002mvm.2	+	12	1433	c.1305C>T	c.(1303-1305)GTC>GTT	p.V435V	MAST1_uc002mvk.2_Silent_p.V431V	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	435	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CGTTTGTGGTCGGCATGTTCT	0.567000												
ZNF626	199777	broad.mit.edu	37	19	20807373	20807373	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr19:20807373G>A	uc002npb.1	-	4	1460	c.1310C>T	c.(1309-1311)TCC>TTC	p.S437F	ZNF626_uc002npc.1_Missense_Mutation_p.S361F	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	437	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						AAGGATTGAGGACTGGTTGAA	0.378000												
SLC1A5	6510	broad.mit.edu	37	19	47281994	47281994	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr19:47281994G>T	uc002pfs.2	-	5	1616	c.996C>A	c.(994-996)AAC>AAA	p.N332K	SLC1A5_uc010xyh.1_Missense_Mutation_p.N130K|SLC1A5_uc002pfq.2_Missense_Mutation_p.N156K|SLC1A5_uc002pfr.2_Missense_Mutation_p.N104K	NM_005628	NP_005619	Q15758	AAAT_HUMAN	solute carrier family 1 member 5 isoform 1	332					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity				0		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	AGCGGTAGGGGTTTTTGCGGG	0.602000												
IRF3	3661	broad.mit.edu	37	19	50163007	50163007	+	Silent	SNP	G	G	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr19:50163007G>A	uc010end.1	-	8	1564	c.1182C>T	c.(1180-1182)CAC>CAT	p.H394H	IRF3_uc002pos.1_RNA|IRF3_uc002pot.1_Silent_p.H267H|IRF3_uc002pox.1_Missense_Mutation_p.H356Y|IRF3_uc002poy.1_Silent_p.H394H|IRF3_uc002pou.2_Silent_p.H394H|IRF3_uc002pov.2_Silent_p.H248H|IRF3_uc002pow.2_Missense_Mutation_p.H400Y	NM_001571	NP_001562	Q14653	IRF3_HUMAN	interferon regulatory factor 3	394					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGTTGGAAATGTGCAGGTCCA	0.622000												
CNOT3	4849	broad.mit.edu	37	19	54646728	54646728	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr19:54646728G>A	uc002qdj.1	+	2	325	c.14G>A	c.(13-15)CGC>CAC	p.R5H	CNOT3_uc010yel.1_Missense_Mutation_p.R5H|CNOT3_uc002qdi.2_5'UTR|CNOT3_uc002qdk.1_Missense_Mutation_p.R5H|CNOT3_uc010ere.1_5'Flank	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	5					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCGGACAAGCGCAAACTCCAA	0.527000												
PDIA6	10130	broad.mit.edu	37	2	10930895	10930895	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:10930895G>C	uc002rau.2	-	7	787	c.649C>G	c.(649-651)CTG>GTG	p.L217V	PDIA6_uc010yjg.1_Missense_Mutation_p.L214V|PDIA6_uc002rav.2_Missense_Mutation_p.L269V|PDIA6_uc010yjh.1_Missense_Mutation_p.L222V|PDIA6_uc002raw.2_Missense_Mutation_p.L265V	NM_005742	NP_005733	Q15084	PDIA6_HUMAN	protein disulfide isomerase A6 precursor	217	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		ACAGCTGCCAGTTTCACTTTT	0.413000												
APOB	338	broad.mit.edu	37	2	21233527	21233527	+	Silent	SNP	G	G	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:21233527G>A	uc002red.2	-	26	6341	c.6213C>T	c.(6211-6213)CTC>CTT	p.L2071L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2071	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAAAAAATGGGAGGTTAATGG	0.363000												
APOB	338	broad.mit.edu	37	2	21241934	21241934	+	Silent	SNP	G	G	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:21241934G>A	uc002red.2	-	20	3179	c.3051C>T	c.(3049-3051)AGC>AGT	p.S1017S		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1017					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATAGGTTGCGCTGACAGAAT	0.448000												
LRPPRC	10128	broad.mit.edu	37	2	44139618	44139618	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:44139618T>G	uc002rtr.2	-	30	3286	c.3228A>C	c.(3226-3228)TTA>TTC	p.L1076F	LRPPRC_uc010yob.1_Missense_Mutation_p.L976F	NM_133259	NP_573566	P42704	LPPRC_HUMAN	leucine-rich PPR motif-containing protein	1076	PPR 16.				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			ovary(2)|skin(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTGACATCAGTAATTTAATGA	0.323000												
NRXN1	9378	broad.mit.edu	37	2	50765393	50765393	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:50765393C>G	uc010fbq.2	-	10	3738	c.2261G>C	c.(2260-2262)AGA>ACA	p.R754T	NRXN1_uc002rxb.3_Missense_Mutation_p.R386T|NRXN1_uc002rxe.3_Missense_Mutation_p.R714T|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AATCCTACCTCTCTCACAGGA	0.448000												
MAP1D	254042	broad.mit.edu	37	2	172926348	172926348	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:172926348C>T	uc002uhk.2	+	2	236	c.163C>T	c.(163-165)CCG>TCG	p.P55S	MAP1D_uc010zdw.1_5'UTR	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	methionine aminopeptidase 1D precursor	55					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TATAGTTTTGCCGGCTGCAGT	0.398000												
CHRNA1	1134	broad.mit.edu	37	2	175622707	175622707	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:175622707C>A	uc002ujd.2	-	4	354	c.276G>T	c.(274-276)TTG>TTT	p.L92F	uc002uiw.2_Intron|CHRNA1_uc002uje.2_Intron|CHRNA1_uc002ujf.3_Intron	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	nicotinic cholinergic receptor alpha 1 isoform a	92	Extracellular.				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(2)|central_nervous_system(1)|skin(1)	4						aaggaactcccaaagtcacgc	0.174000												
TTN	7273	broad.mit.edu	37	2	179422480	179422480	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:179422480T>G	uc010zfg.1	-	277	80121	c.79897A>C	c.(79897-79899)AAA>CAA	p.K26633Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K20328Q|TTN_uc010zfi.1_Missense_Mutation_p.K20261Q|TTN_uc010zfj.1_Missense_Mutation_p.K20136Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27560							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)			GTGGTCAGTTTCATGACTTTC	0.418000												
SH3BP4	23677	broad.mit.edu	37	2	235951699	235951699	+	Silent	SNP	C	C	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:235951699C>A	uc002vvp.2	+	4	2679	c.2286C>A	c.(2284-2286)CTC>CTA	p.L762L	SH3BP4_uc010fym.2_Silent_p.L762L|SH3BP4_uc002vvq.2_Silent_p.L762L	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	762					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGACCCTGCTCATGGAGAACA	0.627000												
BTBD3	22903	broad.mit.edu	37	20	11899738	11899738	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr20:11899738G>T	uc002wnz.2	+	2	690	c.331G>T	c.(331-333)GCG>TCG	p.A111S	BTBD3_uc002wny.2_Missense_Mutation_p.A50S|BTBD3_uc002woa.2_Missense_Mutation_p.A50S|BTBD3_uc010zrf.1_Intron|BTBD3_uc010zrg.1_5'Flank|BTBD3_uc010zrh.1_5'Flank	NM_014962	NP_055777	Q9Y2F9	BTBD3_HUMAN	BTB/POZ domain containing protein 3 isoform a	111										ovary(2)|central_nervous_system(1)	3						TTATAGAAATGCGATGATGTT	0.438000												
BTBD3	22903	broad.mit.edu	37	20	11900476	11900476	+	Silent	SNP	T	T	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr20:11900476T>A	uc002wnz.2	+	3	887	c.528T>A	c.(526-528)GCT>GCA	p.A176A	BTBD3_uc002wny.2_Silent_p.A115A|BTBD3_uc002woa.2_Silent_p.A115A|BTBD3_uc010zrf.1_Silent_p.A25A|BTBD3_uc010zrg.1_Silent_p.A25A|BTBD3_uc010zrh.1_Silent_p.A25A	NM_014962	NP_055777	Q9Y2F9	BTBD3_HUMAN	BTB/POZ domain containing protein 3 isoform a	176	BTB.									ovary(2)|central_nervous_system(1)	3						CTTTTCTCGCTATGCTGAAGT	0.418000												
BPIL1	80341	broad.mit.edu	37	20	31609144	31609144	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr20:31609144C>T	uc002wyj.2	+	14	1446	c.1252C>T	c.(1252-1254)CTC>TTC	p.L418F		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	bactericidal/permeability-increasing	418						extracellular region	lipid binding			skin(2)|large_intestine(1)|ovary(1)	4						GCTGGACCATCTCAATGGTAA	0.652000												
C20orf117	140710	broad.mit.edu	37	20	35422968	35422968	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr20:35422968T>C	uc002xgd.1	-	14	3130	c.2803A>G	c.(2803-2805)AGT>GGT	p.S935G	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	935											0		Myeloproliferative disorder(115;0.00874)				TCGAGCAAACTTTCAAACTCA	0.507000												
SAMHD1	25939	broad.mit.edu	37	20	35555588	35555588	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr20:35555588C>A	uc002xgh.1	-	6	823	c.693G>T	c.(691-693)TGG>TGT	p.W231C		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	231	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity				0		Myeloproliferative disorder(115;0.00878)				TACATACCGTCCATTTCACCT	0.353000												
SLC25A20	788	broad.mit.edu	37	3	48896993	48896993	+	Silent	SNP	T	T	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr3:48896993T>A	uc003cva.3	-	6	778	c.603A>T	c.(601-603)GGA>GGT	p.G201G	SLC25A20_uc011bbw.1_Silent_p.G151G|SLC25A20_uc010hkj.2_Silent_p.G128G	NM_000387	NP_000378	O43772	MCAT_HUMAN	carnitine/acylcarnitine translocase	201	Cytoplasmic (Potential).				carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity				0				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	CTCACCTCTTTCCCTCCGGAG	0.433000												
RAB6B	51560	broad.mit.edu	37	3	133553468	133553468	+	Silent	SNP	C	C	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr3:133553468C>A	uc003epy.2	-	7	894	c.513G>T	c.(511-513)GCG>GCT	p.A171A	RAB6B_uc011blu.1_Silent_p.A158A	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	171					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			pancreas(1)	1						GTAGAGCCGACGCCACACGTC	0.502000												
C5orf42	65250	broad.mit.edu	37	5	37173906	37173906	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr5:37173906G>A	uc011cpa.1	-	32	6353	c.6122C>T	c.(6121-6123)TCG>TTG	p.S2041L	C5orf42_uc011coy.1_Missense_Mutation_p.S541L|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.S1116L|C5orf42_uc003jkr.1_Missense_Mutation_p.S74L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	2041										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AACGGACTCCGAACAATCTGG	0.403000												
SFRS12	140890	broad.mit.edu	37	5	65465970	65465970	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr5:65465970C>T	uc003juo.2	+	9	1405	c.745C>T	c.(745-747)CGG>TGG	p.R249W	SFRS12_uc003jun.2_Missense_Mutation_p.R365W|SFRS12_uc010iwy.2_Missense_Mutation_p.R249W	NM_139168	NP_631907	Q8WXA9	SREK1_HUMAN	splicing factor, arginine/serine-rich 12 isoform	249	Arg/Glu/Lys/Ser-rich.				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding				0		Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234)		Lung(70;0.00449)		AAGGGAGAGACGGAAGTCAAG	0.368000												
TRPC7	57113	broad.mit.edu	37	5	135692752	135692752	+	Silent	SNP	G	G	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr5:135692752G>A	uc003lbn.1	-	1	324	c.321C>T	c.(319-321)GAC>GAT	p.D107D	TRPC7_uc010jef.1_Silent_p.D99D|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.D99D|TRPC7_uc010jei.1_Silent_p.D99D|TRPC7_uc010jej.1_Translation_Start_Site	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	108	Cytoplasmic (Potential).|ANK 3.				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGCAGCGCGTCCCCCACCC	0.667000												
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139838894	139838894	+	Silent	SNP	A	A	G			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr5:139838894A>G	uc003lfs.1	+	9	1750	c.1626A>G	c.(1624-1626)GCA>GCG	p.A542A	ANKHD1_uc003lfq.1_Silent_p.A542A|ANKHD1_uc003lfr.2_Silent_p.A542A|ANKHD1_uc003lft.1_Silent_p.A3A|ANKHD1_uc003lfu.1_Silent_p.A3A|ANKHD1_uc003lfp.2_Silent_p.A531A|ANKHD1_uc003lfo.2_Silent_p.A542A|ANKHD1_uc010jfk.2_Silent_p.A542A	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	542						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATGGAGGCATCTCAGGAGG	0.383000												
NOTCH4	4855	broad.mit.edu	37	6	32163246	32163246	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr6:32163246G>A	uc003obb.2	-	30	6119	c.5980C>T	c.(5980-5982)CCC>TCC	p.P1994S	GPSM3_uc003oax.3_5'Flank|GPSM3_uc003oay.3_5'Flank|GPSM3_uc003oaz.2_5'UTR|NOTCH4_uc011dpt.1_3'UTR|NOTCH4_uc003oba.2_Missense_Mutation_p.P654S|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1994	Cytoplasmic (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						TGGTTTATGGGCATTTCTTGG	0.512000												
TEAD3	7005	broad.mit.edu	37	6	35443212	35443212	+	Silent	SNP	C	C	T			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr6:35443212C>T	uc003oku.3	-	12	1331	c.1095G>A	c.(1093-1095)TCG>TCA	p.S365S	TEAD3_uc003okt.2_Silent_p.S254S|TEAD3_uc010jvx.2_Silent_p.S305S	NM_003214	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	365	Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGCACATGGGCGAGCGGTGGA	0.562000												
MUT	4594	broad.mit.edu	37	6	49399498	49399498	+	Silent	SNP	G	G	T			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr6:49399498G>T	uc003ozg.3	-	13	2451	c.2196C>A	c.(2194-2196)GCC>GCA	p.A732A		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	732	B12-binding.				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCACCTGAACGGCAGCCTTTG	0.333000												
MUT	4594	broad.mit.edu	37	6	49399501	49399501	+	Silent	SNP	A	A	C			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr6:49399501A>C	uc003ozg.3	-	13	2448	c.2193T>G	c.(2191-2193)GCT>GCG	p.A731A		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	731	B12-binding.				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTGAACGGCAGCCTTTGGAA	0.338000												
BMP5	653	broad.mit.edu	37	6	55638953	55638953	+	Silent	SNP	C	C	T			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr6:55638953C>T	uc003pcq.2	-	4	1633	c.921G>A	c.(919-921)GCG>GCA	p.A307A	BMP5_uc011dxf.1_Silent_p.A307A	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	307					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTACCTCACTCGCCTTGAAGA	0.468000												
ABCA13	154664	broad.mit.edu	37	7	48313582	48313582	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr7:48313582G>A	uc003toq.2	+	17	4344	c.4319G>A	c.(4318-4320)TGG>TAG	p.W1440*	ABCA13_uc010kyr.2_Nonsense_Mutation_p.W943*	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1440					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						ATTGTAACTTGGGTGTTAAAT	0.269000												
CSMD1	64478	broad.mit.edu	37	8	3165968	3165968	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr8:3165968C>T	uc011kwk.1	-	24	4082	c.3692G>A	c.(3691-3693)CGT>CAT	p.R1231H	CSMD1_uc011kwj.1_Missense_Mutation_p.R623H|CSMD1_uc003wqe.2_Missense_Mutation_p.R387H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1231	Extracellular (Potential).|Sushi 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCCTTCATCACGGATCCTATA	0.512000												
KCNU1	157855	broad.mit.edu	37	8	36768479	36768479	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr8:36768479C>T	uc010lvw.2	+	22	2450	c.2363C>T	c.(2362-2364)GCG>GTG	p.A788V	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	788	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)		GACCTCCATGCGGCCAACATA	0.522000												
EFR3A	23167	broad.mit.edu	37	8	132980566	132980566	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr8:132980566C>G	uc003yte.2	+	9	1081	c.880C>G	c.(880-882)CAG>GAG	p.Q294E		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A	294						plasma membrane	binding			ovary(3)|breast(1)|central_nervous_system(1)	5	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CCATGTGATCCAGGAGATTCT	0.413000												
SLC45A4	57210	broad.mit.edu	37	8	142228731	142228731	+	Silent	SNP	G	G	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr8:142228731G>A	uc003ywd.1	-	4	1163	c.855C>T	c.(853-855)CAC>CAT	p.H285H	SLC45A4_uc003ywc.1_Silent_p.H285H|SLC45A4_uc010meq.1_Silent_p.H283H	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	336					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGGAGGCGTCGTGGAAGATGG	0.677000												
ZNF484	83744	broad.mit.edu	37	9	95608610	95608610	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr9:95608610C>G	uc004asu.1	-	5	2608	c.2459G>C	c.(2458-2460)AGT>ACT	p.S820T	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.S822T|ZNF484_uc010mrb.1_Missense_Mutation_p.S784T|ZNF484_uc004asv.1_Missense_Mutation_p.S784T	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	820					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTGAGGCATACTGAGTTGTGG	0.423000												
SH3KBP1	30011	broad.mit.edu	37	X	19560206	19560206	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chrX:19560206A>G	uc004czm.2	-	16	2045	c.1729T>C	c.(1729-1731)TCT>CCT	p.S577P	SH3KBP1_uc011mje.1_Missense_Mutation_p.S316P|SH3KBP1_uc011mjf.1_Missense_Mutation_p.S339P|SH3KBP1_uc004czl.2_Missense_Mutation_p.S540P|SH3KBP1_uc010nfm.2_Missense_Mutation_p.S22P	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	577					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						GTTCCCAAAGAGGATGACAGG	0.657000												
KLHL15	80311	broad.mit.edu	37	X	24024572	24024572	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chrX:24024572G>C	uc004dba.3	-	3	495	c.239C>G	c.(238-240)ACC>AGC	p.T80S		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	kelch-like 15	80	BTB.									ovary(1)|breast(1)	2						GCTGAAACCGGTAGCTGTTAG	0.413000												
DMD	1756	broad.mit.edu	37	X	31152236	31152236	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chrX:31152236G>C	uc004dda.1	-	77	11241	c.10997C>G	c.(10996-10998)TCC>TGC	p.S3666C	DMD_uc004dcq.1_Missense_Mutation_p.S937C|DMD_uc004dcr.1_Missense_Mutation_p.S1086C|DMD_uc004dcs.1_Missense_Mutation_p.S1096C|DMD_uc004dct.1_Missense_Mutation_p.S1206C|DMD_uc004dcu.1_Missense_Mutation_p.S1206C|DMD_uc004dcv.1_Missense_Mutation_p.S1193C|DMD_uc004dcw.2_Missense_Mutation_p.S2322C|DMD_uc004dcx.2_Missense_Mutation_p.S2325C|DMD_uc004dcz.2_Missense_Mutation_p.S3543C|DMD_uc004dcy.1_Missense_Mutation_p.S3662C|DMD_uc004ddb.1_Missense_Mutation_p.S3658C|DMD_uc004dcm.1_Missense_Mutation_p.S598C|DMD_uc004dcn.1_Missense_Mutation_p.S585C|DMD_uc004dco.1_Missense_Mutation_p.S598C|DMD_uc004dcp.1_Missense_Mutation_p.S585C|DMD_uc011mkb.1_Missense_Mutation_p.S488C	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3666					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTAGGGAAGGAGTTGTTGAG	0.468000												
CCNB3	85417	broad.mit.edu	37	X	50052274	50052274	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chrX:50052274T>A	uc004dox.3	+	6	1403	c.1105T>A	c.(1105-1107)TTT>ATT	p.F369I	CCNB3_uc004doy.2_Missense_Mutation_p.F369I|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	369					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					GTCGTTAGCCTTTAAGAAGAA	0.458000												
ATP7A	538	broad.mit.edu	37	X	77245137	77245137	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chrX:77245137C>T	uc004ecx.3	+	4	1179	c.1019C>T	c.(1018-1020)CCG>CTG	p.P340L	ATP7A_uc004ecw.2_Missense_Mutation_p.P340L	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	340	HMA 3.|Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						GCTGTATCACCGGGGCTATAT	0.423000												
RPS6KA6	27330	broad.mit.edu	37	X	83351320	83351320	+	Splice_Site	SNP	C	C	T			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chrX:83351320C>T	uc004eej.1	-	20	1931	c.1854_splice	c.e20-1	p.G618_splice	RPS6KA6_uc011mqt.1_Splice_Site_p.G618_splice|RPS6KA6_uc011mqu.1_Splice_Site_p.G515_splice	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6						axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						TGGAGTGTAGCTATTAATAAA	0.348000												
GABRA3	2556	broad.mit.edu	37	X	151424320	151424320	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chrX:151424320C>T	uc010ntk.1	-	5	721	c.481G>A	c.(481-483)GCT>ACT	p.A161T		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	161	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATGTTATGAGCCACTGATTTC	0.493000												
REEP1	65055	broad.mit.edu	37	2	86481815	86481816	+	Splice_Site	DEL	AC	AC	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:86481814_86481815TAC>T	uc021vke.1	-	4	331	c.324_splice	c.e4+1	p.K108_splice	REEP1_uc002srh.4_Splice_Site_p.K101_splice|REEP1_uc010yth.2_Splice_Site_p.K74_splice|REEP1_uc010yti.2_Intron|REEP1_uc010ytg.2_Splice_Site_p.K80_splice	NM_001164730	NP_001158202	Q9H902	REEP1_HUMAN	Homo sapiens receptor accessory protein 1 (REEP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	101					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding	p.?(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						CAGCATATATTACCTTTTCTTT	0.396												
SMARCC1	6599	broad.mit.edu	37	3	47730865	47730876	+	Splice_Site	DEL	CTGAATTGTTAC	CTGAATTGTTAC	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr3:47730864_47730875ACTGAATTGTTAC>A	uc003crq.2	-	13	1381	c.1263_splice	c.e13+1	p.K421_splice	SMARCC1_uc011bbd.1_Splice_Site_p.K312_splice	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	421					chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		ACCAGGCTTAACTGAATTGTTACCTTTCCTCC	0.410												
TM4SF1	4071	broad.mit.edu	37	3	149093466	149093467	+	Splice_Site	INS	-	-	C			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr3:149093465_149093466A>AC	uc003exb.1	-	2	501	c.267_splice	c.e2+1	p.A89_splice	TM4SF1_uc003exc.1_5'UTR	NM_014220	NP_055035	P30408	T4S1_HUMAN	Homo sapiens transmembrane 4 L six family member 1 (TM4SF1), mRNA.	89						integral to plasma membrane				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AGGAGGACCTACCGCACATCGT	0.520												
HIST1H4L	8368	broad.mit.edu	37	6	27840927	27840940	+	Splice_Site	DEL	GGGTGGCCCTGAGA	GGGTGGCCCTGAGA	-	rs45509595	by1000genomes	TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr6:27840926_27840939TGGGTGGCCCTGAGA>T	uc003njz.3	-	1	364	c.363_splice	c.e1+1		HIST1H3I_uc003njy.3_5'Flank	NM_003546	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4l (HIST1H4L), mRNA.						CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						ACAGACTTCATGGGTGGCCCTGAGAAGGGCCTTT	0.481												
ESRP1	54845	broad.mit.edu	37	8	95705056	95705059	+	Splice_Site	DEL	GTCA	GTCA	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr8:95705055_95705058GGTCA>G	uc003ygq.4	+	14	2154	c.1971_splice	c.e14+1	p.Q657_splice	ESRP1_uc003ygr.4_Splice_Site_p.Q653_splice|ESRP1_uc003ygs.4_Splice_Site_p.Q653_splice|ESRP1_uc003ygt.4_Intron|ESRP1_uc003ygu.4_Intron|ESRP1_uc003ygv.3_Splice_Site_p.Q497_splice|ESRP1_uc003ygw.3_Intron	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	657					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AAGGTTACCAGGTCAGTAGCTTGA	0.456												
WDR88	126248	broad.mit.edu	37	19	33647448	33647449	+	Splice_Site	INS	-	-	CA			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr19:33647447_33647448C>CCA	uc002nui.3	+	7	1075	c.997_splice	c.e7+1	p.S333_splice		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	333										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TTGCCAGAGACAGTGAGTAATT	0.500												
IL17REL	400935	broad.mit.edu	37	22	50436170	50436171	+	Splice_Site	INS	-	-	AACC			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr22:50436169_50436170G>GAACC	uc003bje.1	-	12	1052	c.820_splice	c.e12-1	p.F274_splice		NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN	Homo sapiens interleukin 17 receptor E-like (IL17REL), mRNA.	274										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AACTGGTAGAGAACTGCAAAGT	0.619												
ACVR1B	91	broad.mit.edu	37	12	52377884	52377884	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr12:52377884delA	uc001rzn.2	+	5	955	c.913delA	c.(913-915)ATTfs	p.I305fs	ACVR1B_uc001rzl.2_Frame_Shift_Del_p.I305fs|ACVR1B_uc001rzm.2_Frame_Shift_Del_p.I305fs|ACVR1B_uc010snn.1_Frame_Shift_Del_p.I346fs	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	305	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)	TGAGGGGATGATTAAGCTGGC	0.547												
DUOXA1	90527	broad.mit.edu	37	15	45409999	45409999	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr15:45409999delC	uc001zup.2	-	11	1566	c.1166delG	c.(1165-1167)CGCfs	p.R389fs	DUOXA2_uc001zuo.2_Frame_Shift_Del_p.S285fs|DUOXA2_uc010beb.2_RNA|DUOXA1_uc010uem.1_Frame_Shift_Del_p.R344fs|DUOXA1_uc010bec.2_Frame_Shift_Del_p.R389fs	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN	Numb-interacting protein	Error:Variant_position_missing_in_Q1HG43_after_alignment					protein transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		TGGACCAAAGCGCCAAGGACT	0.617											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
STX10	8677	broad.mit.edu	37	19	13259888	13259889	+	Frame_Shift_Ins	INS	-	-	ATAT			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr19:13259888_13259889insATAT	uc010xnb.1	-	4	317_318	c.317_318insATAT	c.(316-318)ATGfs	p.M106fs	STX10_uc002mwn.2_Frame_Shift_Ins_p.M5fs|STX10_uc002mwo.2_Frame_Shift_Ins_p.M5fs|STX10_uc010xna.1_Intron|STX10_uc010xnc.1_Intron|IER2_uc002mwr.2_5'Flank	NM_003765	NP_003756	O60499	STX10_HUMAN	syntaxin 10	106	Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			TTGGGCTGACCATATGGTCCTT	0.416												
THBD	7056	broad.mit.edu	37	20	23029226	23029229	+	Frame_Shift_Del	DEL	AGGA	AGGA	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr20:23029226_23029229delAGGA	uc002wss.2	-	1	1073_1076	c.913_916delTCCT	c.(913-918)TCCTACfs	p.S305fs	THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Frame_Shift_Del_p.S246fs	NM_000361	NP_000352	P07204	TRBM_HUMAN	thrombomodulin precursor	305_306	EGF-like 2.|Extracellular (Potential).				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	ATGCACGAGTAGGAGCCCGGCTGG	0.686												
LZIC	84328	broad.mit.edu	37	1	9994876	9994876	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:9994875_9994875AC>A	uc010oah.2	-	4	412	c.344_344GT>T	c.(343-345)gtcfs	p.V115fs	LZIC_uc001aqm.3_Frame_Shift_Del_p.V94fs|LZIC_uc001aqo.3_Frame_Shift_Del_p.V94fs|LZIC_uc009vmr.3_Frame_Shift_Del_p.V94fs	NM_032368	NP_115744	Q8WZA0	LZIC_HUMAN	Homo sapiens leucine zipper and CTNNBIP1 domain containing (LZIC), mRNA.	94							beta-catenin binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)		CAATCTGATGACCTCTGGGGT	0.388												
HSPG2	3339	broad.mit.edu	37	1	22222792	22222792	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:22222791_22222791GC>G	uc009vqd.3	-	1	116	c.76_76GC>C	c.(76-78)ctgfs	p.L26fs	HSPG2_uc001bfj.3_Frame_Shift_Del_p.L26fs|HSPG2_uc009vqe.1_5'UTR	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	26					angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TATGCCCTCAGCCCATGGGTC	0.557												
NCDN	23154	broad.mit.edu	37	1	36026336	36026337	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:36026335_36026336G>GC	uc001bza.3	+	3	710_711	c.583_584G>GC	c.(583-585)gccfs	p.A195fs	KIAA0319L_uc010ohw.2_5'Flank|NCDN_uc001bzb.3_Frame_Shift_Ins_p.A195fs|NCDN_uc001bzc.3_Frame_Shift_Ins_p.A178fs	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	195					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTTGACCAGGCCCTGGCACTC	0.663												
ZC3H12A	80149	broad.mit.edu	37	1	37948822	37948824	+	In_Frame_Del	DEL	CTA	CTA	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:37948821_37948823GCTA>G	uc001cbb.4	+	5	1559_1561	c.1409_1411GCTA>G	c.(1408-1413)ggctac>gGac	p.Y471del	ZC3H12A_uc001cbc.1_In_Frame_Del_p.Y266del	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	471	Pro-rich.				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCTTACACGGGCTACAGTCCCTA	0.660												
PIK3R3	8503	broad.mit.edu	37	1	46531734	46531734	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:46531733_46531733GT>G	uc010olw.2	-	4	769	c.752_752AC>C	c.(751-753)acafs	p.T251fs	PIK3R3_uc001cpb.4_Frame_Shift_Del_p.T205fs|PIK3R3_uc009vyb.3_Frame_Shift_Del_p.T205fs|PIK3R3_uc009vyc.3_Frame_Shift_Del_p.T222fs|PIK3R3_uc001cpc.4_Frame_Shift_Del_p.T205fs	NM_003629	NP_003620	Q92569	P55G_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 3 (gamma) (PIK3R3), transcript variant 1, mRNA.	205					T cell costimulation|insulin receptor signaling pathway|platelet activation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					AACCTGGGATGTTCTAGTATA	0.323												
MSH4	4438	broad.mit.edu	37	1	76342667	76342680	+	Frame_Shift_Del	DEL	GTTCCTTGGAAGAC	GTTCCTTGGAAGAC	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:76342666_76342679GGTTCCTTGGAAGAC>G	uc001dhd.2	+	9	1466_1479	c.1351_1364GGTTCCTTGGAAGAC>G	c.(1351-1365)ggttccttggaagacfs	p.G451fs		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	451					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AGCTTACTATGGTTCCTTGGAAGACAAGAGGTCT	0.285								Mismatch excision repair (MMR)				
AHCYL1	10768	broad.mit.edu	37	1	110561712	110561741	+	In_Frame_Del	DEL	TTTGTTCTGTCCATCACAGCCACAACACAG	TTTGTTCTGTCCATCACAGCCACAACACAG	-	rs75754234		TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:110561711_110561740CTTTGTTCTGTCCATCACAGCCACAACACAG>C	uc001dyx.3	+	13	1644_1673	c.1356_1385CTTTGTTCTGTCCATCACAGCCACAACACAG>C	c.(1354-1386)acctttgttctgtccatcacagccacaacacag>acCg	p.FVLSITATTQ453del	AHCYL1_uc010ovw.2_In_Frame_Del_p.FVLSITATTQ406del|AHCYL1_uc021ork.1_In_Frame_Del_p.FVLSITATTQ406del|AHCYL1_uc010ovx.2_In_Frame_Del_p.FVLSITATTQ406del|AHCYL1_uc001dyy.3_In_Frame_Del_p.FVLSITATTQ406del	NM_006621	NP_001229605	O43865	SAHH2_HUMAN	Homo sapiens adenosylhomocysteinase-like 1 (AHCYL1), transcript variant 1, mRNA.	453					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CAGTTCCCACCTTTGTTCTGTCCATCACAGCCACAACACAGGTATGTGGC	0.487												
GJA5	2702	broad.mit.edu	37	1	147230353	147230354	+	Frame_Shift_Ins	INS	-	-	G	rs116551187	byFrequency	TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:147230352_147230353C>CG	uc021ovl.1	-	0	994_995	c.994_995G>CG	c.(994-996)cgcfs	p.R332fs	GJA5_uc001eps.1_Frame_Shift_Ins_p.R332fs|GJA5_uc001ept.1_Frame_Shift_Ins_p.R332fs	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	332					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			ATGGGGAAGGCGGTGACCTGGT	0.550												
SNX27	81609	broad.mit.edu	37	1	151638446	151638451	+	In_Frame_Del	DEL	TGAATT	TGAATT	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:151638445_151638450GTGAATT>G	uc001eyn.1	+	5	959_964	c.943_948GTGAATT>G	c.(943-948)gtgaat>G	p.VN315del	SNX27_uc001eyo.3_In_Frame_Del_p.VN222del|SNX27_uc001eyp.3_In_Frame_Del_p.VN129del	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	Homo sapiens sorting nexin family member 27 (SNX27), mRNA.	315	Ras-associating.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGTACGACAGTGAATTACTTTGCCT	0.374												
APOA1BP	128240	broad.mit.edu	37	1	156561937	156561938	+	In_Frame_Ins	INS	-	-	ACC			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:156561936_156561937T>TACC	uc001fph.3	+	1	265_266	c.226_227T>TACC	c.(226-228)tac>TACCc	p.Y76Y	APOA1BP_uc001fpi.3_In_Frame_Ins_p.Y76Y|APOA1BP_uc001fpk.3_5'UTR|APOA1BP_uc010php.1_5'UTR	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	Homo sapiens apolipoprotein A-I binding protein (APOA1BP), mRNA.	76	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATTTAACGAATACCAGTTCAGC	0.614												
DUSP12	11266	broad.mit.edu	37	1	161722919	161722920	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:161722918_161722919C>CTA	uc001gbo.3	+	4	739_740	c.728_729C>CTA	c.(727-729)cctfs	p.P243fs		NM_007240	NP_009171	Q9UNI6	DUS12_HUMAN	Homo sapiens dual specificity phosphatase 12 (DUSP12), mRNA.	243					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GGAAGTGGACCTATAGCCTTTG	0.436												
ELF3	1999	broad.mit.edu	37	1	201981536	201981537	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:201981535_201981536T>TC	uc001gxg.4	+	2	3641_3642	c.449_450T>TC	c.(448-450)ttcfs	p.F150fs	ELF3_uc001gxi.4_Frame_Shift_Ins_p.F150fs|ELF3_uc001gxh.4_Frame_Shift_Ins_p.F150fs	NM_004433	NP_004424	P78545	ELF3_HUMAN	Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.	150					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.M148fs*7(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGCATGGCCTTCCAGGAGGCCC	0.564												
C2orf42	54980	broad.mit.edu	37	2	70377543	70377544	+	Frame_Shift_Ins	INS	-	-	GGCC			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:70377542_70377543G>GGGCC	uc002sgh.3	-	9	1998_1999	c.1670_1671C>GGCCC	c.(1669-1671)cccfs	p.P557fs		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	557										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						GGTCCAAGGGGGGCCGCTGGTC	0.510												
ALMS1	7840	broad.mit.edu	37	2	73678809	73678810	+	In_Frame_Ins	INS	-	-	ATT			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:73678808_73678809C>CATT	uc002sje.1	+	7	5262_5263	c.5151_5152C>CATT	c.(5149-5154)cccatt>ccCATTtt	p.1717_1718PI>PI	ALMS1_uc002sjf.1_In_Frame_Ins_p.1675_1676PI>PI|ALMS1_uc002sjg.3_In_Frame_Ins_p.1105_1106PI>PI|ALMS1_uc002sjh.1_In_Frame_Ins_p.1105_1106PI>PI	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1717	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAGAGAAGCCCATTGTCTTCTA	0.475												
REEP1	65055	broad.mit.edu	37	2	86481815	86481816	+	Splice_Site	DEL	AC	AC	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:86481814_86481815TAC>T	uc021vke.1	-	4	331	c.324_splice	c.e4+1	p.K108_splice	REEP1_uc002srh.4_Splice_Site_p.K101_splice|REEP1_uc010yth.2_Splice_Site_p.K74_splice|REEP1_uc010yti.2_Intron|REEP1_uc010ytg.2_Splice_Site_p.K80_splice	NM_001164730	NP_001158202	Q9H902	REEP1_HUMAN	Homo sapiens receptor accessory protein 1 (REEP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	101					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding	p.?(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						CAGCATATATTACCTTTTCTTT	0.396												
KCNIP3	30818	broad.mit.edu	37	2	96040100	96040116	+	Frame_Shift_Del	DEL	GACCAGCTGCAGGCCCA	GACCAGCTGCAGGCCCA	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:96040099_96040115GGACCAGCTGCAGGCCCA>G	uc002sup.3	+	2	352_368	c.237_253GGACCAGCTGCAGGCCCA>G	c.(235-255)ctggaccagctgcaggcccagfs	p.L79fs	KCNIP3_uc002suq.3_Frame_Shift_Del_p.L53fs	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN	Homo sapiens Kv channel interacting protein 3, calsenilin (KCNIP3), transcript variant 1, mRNA.	79	EF-hand 1; degenerate.				apoptosis|signal transduction|transcription, DNA-dependent	Golgi apparatus|endoplasmic reticulum|nucleus|plasma membrane	DNA binding|calcium ion binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity	p.Q83Q(2)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		CAGAGGGGCTGGACCAGCTGCAGGCCCAGACCAAGTT	0.608												
POLR1B	84172	broad.mit.edu	37	2	113331235	113331236	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:113331234_113331235T>TA	uc002thw.2	+	13	2947_2948	c.2367_2368T>TA	c.(2365-2370)gatagtfs	p.D789fs	POLR1B_uc010fkn.2_Frame_Shift_Ins_p.D733fs|POLR1B_uc002thx.2_Frame_Shift_Ins_p.D650fs|POLR1B_uc010fko.2_Frame_Shift_Ins_p.D606fs|POLR1B_uc010fkp.2_Frame_Shift_Ins_p.D228fs|POLR1B_uc002thy.2_Frame_Shift_Ins_p.D650fs|POLR1B_uc010yxo.1_Frame_Shift_Ins_p.D566fs	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	789					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AACAAGGAGATAGTAGCCTGGT	0.460												
ALS2	57679	broad.mit.edu	37	2	202626189	202626190	+	Frame_Shift_Ins	INS	-	-	GGTA	rs35097965		TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:202626188_202626189C>CGGTA	uc002uyo.3	-	3	884_885	c.528_529G>TACCG	c.(526-531)accggtfs	p.T176fs	ALS2_uc002uyp.4_Frame_Shift_Ins_p.T176fs|ALS2_uc002uyq.3_Frame_Shift_Ins_p.T176fs|ALS2_uc002uyr.3_Frame_Shift_Ins_p.T176fs	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	176					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity	p.T176T(3)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AACTGACAACCGGTACCCCATG	0.530												
OGG1	4968	broad.mit.edu	37	3	9792012	9792016	+	Frame_Shift_Del	DEL	TACTC	TACTC	-	rs144091991		TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr3:9792011_9792015GTACTC>G	uc003bsi.3	+	0	384_388	c.41_45GTACTC>G	c.(40-45)cgtactfs	p.R14fs	OGG1_uc003bsj.3_Frame_Shift_Del_p.R14fs|OGG1_uc003bsh.3_Frame_Shift_Del_p.R14fs|OGG1_uc003bsl.3_Frame_Shift_Del_p.R14fs|OGG1_uc003bsk.3_Frame_Shift_Del_p.R14fs|OGG1_uc003bsm.3_Frame_Shift_Del_p.R14fs|OGG1_uc003bsn.3_Frame_Shift_Del_p.R14fs|OGG1_uc003bso.3_Frame_Shift_Del_p.R14fs|OGG1_uc003bsr.2_5'Flank|OGG1_uc010hcm.2_5'Flank|OGG1_uc003bsq.2_5'Flank|OGG1_uc003bsp.2_5'Flank	NM_002542	NP_002533	O15527	OGG1_HUMAN	Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 1a, mRNA.	14					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					ATGGGGCATCGTACTCTAGCCTCCA	0.659								Base excision repair (BER), DNA glycosylases				
ITGA9	3680	broad.mit.edu	37	3	37821477	37821478	+	Frame_Shift_Ins	INS	-	-	ATTT			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr3:37821476_37821477C>CATTT	uc003chd.3	+	24	2804_2805	c.2751_2752C>CATTT	c.(2749-2754)gacattfs	p.D917fs		NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	917					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GTACTATAGACATTTACATGCT	0.381												
SMARCC1	6599	broad.mit.edu	37	3	47730865	47730876	+	Splice_Site	DEL	CTGAATTGTTAC	CTGAATTGTTAC	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr3:47730864_47730875ACTGAATTGTTAC>A	uc003crq.2	-	13	1381	c.1263_splice	c.e13+1	p.K421_splice	SMARCC1_uc011bbd.1_Splice_Site_p.K312_splice	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	421					chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		ACCAGGCTTAACTGAATTGTTACCTTTCCTCC	0.410												
ESYT3	83850	broad.mit.edu	37	3	138189826	138189841	+	Frame_Shift_Del	DEL	CTCAGGCCTGGACAGC	CTCAGGCCTGGACAGC	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr3:138189825_138189840ACTCAGGCCTGGACAGC>A	uc003esk.3	+	16	1923_1938	c.1697_1712ACTCAGGCCTGGACAGC>A	c.(1696-1713)cactcaggcctggacagcfs	p.H566fs	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	566						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CAGCTGGACCACTCAGGCCTGGACAGCCTCATCTCC	0.597												
TM4SF1	4071	broad.mit.edu	37	3	149093466	149093467	+	Splice_Site	INS	-	-	C			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr3:149093465_149093466A>AC	uc003exb.1	-	2	501	c.267_splice	c.e2+1	p.A89_splice	TM4SF1_uc003exc.1_5'UTR	NM_014220	NP_055035	P30408	T4S1_HUMAN	Homo sapiens transmembrane 4 L six family member 1 (TM4SF1), mRNA.	89						integral to plasma membrane				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AGGAGGACCTACCGCACATCGT	0.520												
GFM1	85476	broad.mit.edu	37	3	158364022	158364023	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr3:158364021_158364022CTA>C	uc003fce.3	+	2	409_410	c.302_303CTA>C	c.(301-303)actfs	p.T101fs	GFM1_uc003fcd.3_Frame_Shift_Del_p.T101fs|GFM1_uc003fcg.3_Frame_Shift_Del_p.T13fs	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Homo sapiens G elongation factor, mitochondrial 1 (GFM1), nuclear gene encoding mitochondrial protein, mRNA.	101					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AGAGGAATCACTATTCAGTCAG	0.401												
PRKCI	5584	broad.mit.edu	37	3	169991093	169991099	+	Frame_Shift_Del	DEL	ATCAGTC	ATCAGTC	-	rs71277168		TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr3:169991092_169991098GATCAGTC>G	uc003fgs.2	+	6	848_854	c.610_616GATCAGTC>G	c.(610-618)gatcagtcafs	p.D204fs		NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	204	Regulatory domain.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GATGCCCATGGATCAGTCATCCATGCA	0.435												
PPAP2A	8611	broad.mit.edu	37	5	54763748	54763749	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr5:54763747_54763748G>GTA	uc003jpz.3	-	2	859_860	c.443_444C>TAC	c.(442-444)tacfs	p.Y148fs	PPAP2A_uc003jqa.3_Frame_Shift_Ins_p.Y147fs|PPAP2A_uc003jqb.3_Non-coding_Transcript	NM_176895	NP_795714	O14494	LPP1_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2A (PPAP2A), transcript variant 2, mRNA.	147					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				AGTATTCAATGTAACCATCGCT	0.406												
TMCO6	55374	broad.mit.edu	37	5	140021541	140021542	+	Frame_Shift_Ins	INS	-	-	AGCT			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr5:140021540_140021541G>GAGCT	uc003lgm.3	+	3	501_502	c.400_401G>GAGCT	c.(400-402)gagfs	p.E134fs	TMCO6_uc011czj.1_3'UTR|TMCO6_uc003lgl.3_Frame_Shift_Ins_p.E134fs|TMCO6_uc010jft.3_Intron|TMCO6_uc003lgn.3_Frame_Shift_Ins_p.E25fs|TMCO6_uc003lgo.3_5'Flank	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	Homo sapiens transmembrane and coiled-coil domains 6 (TMCO6), mRNA.	134					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCTGCATGAGCTCTCTCAC	0.604												
KIAA0141	9812	broad.mit.edu	37	5	141305001	141305006	+	In_Frame_Del	DEL	GCGGGG	GCGGGG	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr5:141305000_141305005AGCGGGG>A	uc003lls.3	+	2	294_299	c.172_177AGCGGGG>A	c.(172-177)agcggg>A	p.SG58del	KIAA0141_uc003llt.3_In_Frame_Del_p.SG58del	NM_001142603	NP_055588	Q14154	DELE_HUMAN	Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	58					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGGCACGAGCGGGGGTCCAAGGT	0.578												
RBM27	54439	broad.mit.edu	37	5	145651187	145651188	+	Frame_Shift_Ins	INS	-	-	GTTGGAG			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr5:145651186_145651187A>AGTTGGAG	uc003lnz.4	+	18	3103_3104	c.2937_2938A>AGTTGGAG	c.(2935-2940)acagttfs	p.T979fs		NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	979					mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCACTAACAGTTGGAGGATT	0.455												
CPEB4	80315	broad.mit.edu	37	5	173317465	173317466	+	Frame_Shift_Ins	INS	-	-	CAGC			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr5:173317464_173317465A>ACAGC	uc003mcs.4	+	0	2134_2135	c.728_729A>ACAGC	c.(727-729)cacfs	p.H243fs	CPEB4_uc010jju.2_Frame_Shift_Ins_p.H243fs|CPEB4_uc010jjv.3_Frame_Shift_Ins_p.H243fs|CPEB4_uc011dfg.2_Frame_Shift_Ins_p.H243fs|CPEB4_uc003mcu.4_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	243	His-rich.						RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGCATCATCACAGCCAGCATC	0.550												
HIST1H4L	8368	broad.mit.edu	37	6	27840927	27840940	+	Splice_Site	DEL	GGGTGGCCCTGAGA	GGGTGGCCCTGAGA	-	rs45509595	by1000genomes	TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr6:27840926_27840939TGGGTGGCCCTGAGA>T	uc003njz.3	-	1	364	c.363_splice	c.e1+1		HIST1H3I_uc003njy.3_5'Flank	NM_003546	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4l (HIST1H4L), mRNA.						CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						ACAGACTTCATGGGTGGCCCTGAGAAGGGCCTTT	0.481												
AGER	177	broad.mit.edu	37	6	32150160	32150161	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr6:32150159_32150160G>GCA	uc003oal.2	-	7	928_929	c.828_829C>TGC	c.(826-831)gtgcccfs	p.V276fs	AGER_uc021yvm.1_Frame_Shift_Ins_p.V189fs|AGER_uc021yvn.1_Frame_Shift_Ins_p.V175fs|AGER_uc010jtw.2_Intron|AGER_uc021yvp.1_Frame_Shift_Ins_p.V84fs|AGER_uc021yvq.1_Frame_Shift_Ins_p.V175fs|AGER_uc011dpn.2_Intron|AGER_uc011dpm.2_Frame_Shift_Ins_p.V175fs|AGER_uc003oap.2_Frame_Shift_Ins_p.V292fs|AGER_uc021yvr.1_Frame_Shift_Ins_p.V276fs|AGER_uc003oam.2_Non-coding_Transcript|AGER_uc003oau.2_Frame_Shift_Ins_p.V276fs|AGER_uc003oas.2_Intron|AGER_uc010jtv.2_Intron|AGER_uc003oar.3_Frame_Shift_Ins_p.V175fs|AGER_uc003oaq.2_Frame_Shift_Ins_p.V262fs|AGER_uc003oat.2_Frame_Shift_Ins_p.V292fs|AGER_uc003oan.2_Intron|AGER_uc011dpo.2_Intron|AGER_uc003oao.2_Intron|AGER_uc021yvo.1_Frame_Shift_Ins_p.V189fs|AGER_uc011dpp.2_Frame_Shift_Ins_p.V307fs	NM_001136	NP_001127	Q15109	RAGE_HUMAN	Homo sapiens advanced glycosylation end product-specific receptor (AGER), transcript variant 1, mRNA.	276	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						AGGGGCAAGGGCACACCCTGGT	0.584												
CASD1	64921	broad.mit.edu	37	7	94184856	94184868	+	Frame_Shift_Del	DEL	TGGTACTGATACC	TGGTACTGATACC	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr7:94184855_94184867TTGGTACTGATACC>T	uc003uni.4	+	17	2406_2418	c.2179_2191TTGGTACTGATACC>T	c.(2179-2193)ttggtactgatacctfs	p.L727fs	CASD1_uc003unj.4_Frame_Shift_Del_p.L727fs	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	727						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AAGGGGTATCTTGGTACTGATACCTGGAAACCC	0.371												
RELN	5649	broad.mit.edu	37	7	103123345	103123346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr7:103123344_103123345G>GC	uc022ajr.1	-	62	10415_10416	c.10255_10256C>GC	c.(10255-10257)gctfs	p.A3419fs	RELN_uc022ajq.1_Frame_Shift_Ins_p.A3419fs|RELN_uc010liz.3_Frame_Shift_Ins_p.A3419fs	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3419					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATGGTCCAAAGCCCATTGATCA	0.480												
TES	26136	broad.mit.edu	37	7	115890233	115890237	+	Frame_Shift_Del	DEL	ATGCT	ATGCT	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr7:115890232_115890236GATGCT>G	uc003vho.3	+	3	599_603	c.384_388GATGCT>G	c.(382-390)cagatgctafs	p.Q128fs	TES_uc011kmy.2_Intron|TES_uc003vhp.3_Frame_Shift_Del_p.Q119fs|TES_uc022aki.1_Non-coding_Transcript|BD495725_uc003vhq.1_5'Flank	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.	128	PET.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			AGTACATGCAGATGCTACCCAAGGA	0.522												
ERI1	90459	broad.mit.edu	37	8	8887409	8887410	+	In_Frame_Ins	INS	-	-	AGC			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr8:8887408_8887409T>TAGC	uc003wsk.2	+	6	1174_1175	c.914_915T>TAGC	c.(913-915)ata>aTAGC	p.I305I		NM_153332	NP_699163	Q8IV48	ERI1_HUMAN	Homo sapiens exoribonuclease 1 (ERI1), mRNA.	305	Exonuclease.				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|rRNA binding|ribosome binding	p.R304R(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11					Adenosine monophosphate(DB00131)	ATCGCCCGAATAGCAGTTCGAA	0.446												
ESRP1	54845	broad.mit.edu	37	8	95705056	95705059	+	Splice_Site	DEL	GTCA	GTCA	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr8:95705055_95705058GGTCA>G	uc003ygq.4	+	14	2154	c.1971_splice	c.e14+1	p.Q657_splice	ESRP1_uc003ygr.4_Splice_Site_p.Q653_splice|ESRP1_uc003ygs.4_Splice_Site_p.Q653_splice|ESRP1_uc003ygt.4_Intron|ESRP1_uc003ygu.4_Intron|ESRP1_uc003ygv.3_Splice_Site_p.Q497_splice|ESRP1_uc003ygw.3_Intron	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	657					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AAGGTTACCAGGTCAGTAGCTTGA	0.456												
TAF1L	138474	broad.mit.edu	37	9	32633408	32633412	+	Frame_Shift_Del	DEL	TATAA	TATAA	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr9:32633407_32633411TTATAA>T	uc003zrg.1	-	0	2257_2261	c.2167_2171TTATAA>A	c.(2167-2172)tataaafs	p.Y723fs	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	723					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGGTTTCCGTTTATAATAGTTCTTT	0.429												
STOML2	30968	broad.mit.edu	37	9	35102750	35102751	+	In_Frame_Ins	INS	-	-	AGT	rs139960088	byFrequency	TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr9:35102749_35102750C>CAGT	uc003zwi.3	-	1	179_180	c.116_117G>ACTG	c.(115-117)ctg>cACTG	p.L39H	STOML2_uc011lou.2_In_Frame_Ins_p.L39H	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	Homo sapiens stomatin (EPB72)-like 2 (STOML2), mRNA.	39						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCGGCACGAACAGTACCACGGT	0.644												
OR2S2	56656	broad.mit.edu	37	9	35957640	35957642	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr9:35957639_35957641CAAT>C	uc011lpi.2	-	0	511_513	c.455_457ATTG>G	c.(454-459)attggt>aGgt	p.152_153IG>R		NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily S, member 2 (OR2S2), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GCAGCACCACCAATAGCCCAGGA	0.532												
WNK2	65268	broad.mit.edu	37	9	96030932	96030933	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr9:96030931_96030932G>GT	uc004ati.1	+	17	3936_3937	c.3936_3937G>GT	c.(3934-3939)tggttcfs	p.W1312fs	WNK2_uc011lud.1_Frame_Shift_Ins_p.W1312fs|WNK2_uc004atj.3_Frame_Shift_Ins_p.W1312fs|WNK2_uc004atk.3_Frame_Shift_Ins_p.W949fs	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1312					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGAAGAGGTGGTTCATCATCTG	0.619												
KLF4	9314	broad.mit.edu	37	9	110248112	110248113	+	In_Frame_Ins	INS	-	-	GGT			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr9:110248111_110248112C>CGGT	uc004bdh.3	-	3	2056_2057	c.1435_1436G>ACCG	c.(1435-1437)cgc>ACCGc	p.R479T	KLF4_uc004bdf.2_In_Frame_Ins_p.R404T|KLF4_uc022blk.1_In_Frame_Ins_p.R120T|KLF4_uc004bdg.3_In_Frame_Ins_p.R454T	NM_004235	NP_004226	O43474	KLF4_HUMAN	Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA.	488	Interaction with target DNA (By similarity).				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R445C(1)		breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CTGGAACGGGCGGTGCCCCGTG	0.530												
C9orf50	375759	broad.mit.edu	37	9	132375476	132375477	+	In_Frame_Ins	INS	-	-	GCT			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr9:132375475_132375476G>GGCT	uc004byc.4	-	5	1300_1301	c.1098_1099C>AGCC	c.(1096-1101)agcctg>agAGCCtg	p.366_367SL>RA	C9orf50_uc022boo.1_In_Frame_Ins_p.365_366SL>RA	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN	Homo sapiens chromosome 9 open reading frame 50 (C9orf50), mRNA.	366										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				CAGAAGGGCAGGCTGCTGTTCA	0.609												
CELF2	10659	broad.mit.edu	37	10	11060090	11060095	+	In_Frame_Del	DEL	TGATGG	TGATGG	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr10:11060089_11060094ATGATGG>A	uc001ikk.2	+	0	197_202	c.37_42ATGATGG>A	c.(37-42)atgatg>A	p.MM13del	CELF2_uc010qbi.2_Intron|CELF2_uc010qbj.1_Intron|CELF2_uc001iki.4_Intron|CELF2_uc001ikl.4_In_Frame_Del_p.MM13del	NM_001083591	NP_001077060	O95319	CELF2_HUMAN	Homo sapiens CUGBP, Elav-like family member 2 (CELF2), transcript variant 4, mRNA.	0	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CCTCCCGGACATGATGGTCGAGGGCC	0.733												
HKDC1	80201	broad.mit.edu	37	10	70986988	70986989	+	Frame_Shift_Ins	INS	-	-	GGCT			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr10:70986987_70986988C>CGGCT	uc001jpf.4	+	1	221_222	c.88_89C>CGGCT	c.(88-90)cggfs	p.R30fs		NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	30					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GTATCACATGCGGCTCTCCGAT	0.614												
GLYATL1	92292	broad.mit.edu	37	11	58722252	58722255	+	Frame_Shift_Del	DEL	GATG	GATG	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr11:58722251_58722254TGATG>T	uc001nnh.2	+	4	338_341	c.288_291TGATG>T	c.(286-291)actgatfs	p.T96fs	GLYATL1_uc001nnf.3_Frame_Shift_Del_p.T65fs|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Frame_Shift_Del_p.T65fs|GLYATL1_uc001nnj.2_Frame_Shift_Del_p.T65fs	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	65						mitochondrion	glycine N-acyltransferase activity	p.D97G(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AGGAGATGACTGATGACATGGATT	0.353												
SF3B2	10992	broad.mit.edu	37	11	65820189	65820190	+	Frame_Shift_Ins	INS	-	-	AGGT			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr11:65820188_65820189C>CAGGT	uc001ogy.1	+	1	218_219	c.178_179C>CAGGT	c.(178-180)cagfs	p.Q60fs	SF3B2_uc001ogx.1_Frame_Shift_Ins_p.Q60fs	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	60					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CTACACCCGCCAGGTAGGTGTT	0.609												
C2CD3	26005	broad.mit.edu	37	11	73803566	73803567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr11:73803565_73803566G>GC	uc001ouu.2	-	18	3639_3640	c.3412_3413C>GC	c.(3412-3414)gctfs	p.A1138fs		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1138						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGTTACCATAGCACAGATCCTT	0.446												
PGM2L1	283209	broad.mit.edu	37	11	74109136	74109142	+	Frame_Shift_Del	DEL	TGAGGGT	TGAGGGT	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr11:74109135_74109141CTGAGGGT>C	uc001ovb.1	-	0	362_368	c.66_72ACCCTCAG>G	c.(64-72)gaccctcagfs	p.D22fs		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	Homo sapiens phosphoglucomutase 2-like 1 (PGM2L1), mRNA.	22					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					CCGTGTCCAGCTGAGGGTCCCCGGTGT	0.671												
PHLDB1	23187	broad.mit.edu	37	11	118520801	118520802	+	Frame_Shift_Ins	INS	-	-	CG			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr11:118520800_118520801T>TCG	uc001ptr.2	+	19	4026_4027	c.3673_3674T>TCG	c.(3673-3675)tacfs	p.Y1225fs	PHLDB1_uc001pts.3_Frame_Shift_Ins_p.Y1225fs|PHLDB1_uc001ptt.3_Frame_Shift_Ins_p.Y1178fs|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Frame_Shift_Ins_p.Y1040fs|PHLDB1_uc001ptw.2_Frame_Shift_Ins_p.Y580fs|PHLDB1_uc009zai.2_Frame_Shift_Ins_p.Y261fs|PHLDB1_uc001ptx.2_Frame_Shift_Ins_p.Y261fs	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	1225								p.R1224S(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCTGACCCGCTACCTGCCAATC	0.564												
LRRK2	120892	broad.mit.edu	37	12	40619412	40619413	+	In_Frame_Ins	INS	-	-	CTC			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr12:40619411_40619412A>ACTC	uc001rmg.4	+	1	327_328	c.206_207A>ACTC	c.(205-207)gac>gACTC	p.D69D		NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	69					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATCGTCTTGGACTCCTATATGA	0.441												
BAZ2A	11176	broad.mit.edu	37	12	57000428	57000429	+	In_Frame_Ins	INS	-	-	TAG			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr12:57000427_57000428A>ATAG	uc001slq.1	-	10	2382_2383	c.2188_2189T>CTAT	c.(2188-2190)atc>CTATc	p.I730L	BAZ2A_uc001slp.1_In_Frame_Ins_p.I728L|BAZ2A_uc009zov.1_5'Flank|BAZ2A_uc009zow.1_In_Frame_Ins_p.I698L	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	730	Lys-rich.				DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CTGCCCTTGGATAGTAGTCTGA	0.421												
LEMD3	23592	broad.mit.edu	37	12	65564812	65564812	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr12:65564811_65564811AC>A	uc001ssl.2	+	0	1461	c.1435_1435AC>A	c.(1435-1437)actfs	p.T479fs	LEMD3_uc009zqo.2_Frame_Shift_Del_p.T479fs	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	479					negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GTTTCTCTTAACTGCTGCCTG	0.463												
F10	2159	broad.mit.edu	37	13	113795276	113795277	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr13:113795275_113795276AGT>A	uc001vsx.3	+	4	470_471	c.413_414AGT>A	c.(412-414)cagfs	p.Q138fs	F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Frame_Shift_Del_p.Q138fs	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	138	EGF-like 2.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACTGTGACCAGTTCTGCCACG	0.624												
NIN	51199	broad.mit.edu	37	14	51202241	51202242	+	Frame_Shift_Ins	INS	-	-	AGCT			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr14:51202240_51202241G>GAGCT	uc001wyi.3	-	27	6061_6062	c.5870_5871C>AGCTC	c.(5869-5871)ctcfs	p.L1957fs	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Frame_Shift_Ins_p.L1957fs|NIN_uc001wyk.3_Frame_Shift_Ins_p.L1244fs|NIN_uc001wyo.3_Frame_Shift_Ins_p.L1957fs|NIN_uc001wyn.3_Non-coding_Transcript	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1957					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTACCTCCATGAGCTGCTCATC	0.381			T	PDGFRB	MPD							
EVL	51466	broad.mit.edu	37	14	100608121	100608121	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr14:100608120_100608120GA>G	uc001ygu.3	+	12	1296	c.1209_1209GA>G	c.(1207-1209)gagfs	p.E403fs	EVL_uc001ygt.3_Frame_Shift_Del_p.E401fs|EVL_uc001ygw.1_5'Flank	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Homo sapiens Enah/Vasp-like (EVL), mRNA.	401	EVH2 block C.|EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	SH3 domain binding|actin binding|profilin binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				TGAAGGAGGAGATCATCGACG	0.622												
MGA	23269	broad.mit.edu	37	15	41961472	41961473	+	Frame_Shift_Ins	INS	-	-	TATC			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr15:41961471_41961472A>ATATC	uc010ucy.2	+	1	560_561	c.379_380A>ATATC	c.(379-381)atafs	p.I127fs	MGA_uc001zog.1_Frame_Shift_Ins_p.I127fs|MGA_uc010ucz.2_Frame_Shift_Ins_p.I127fs	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	127						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGTCATGGATATATCTCCTGTG	0.411												
HERC1	8925	broad.mit.edu	37	15	63966587	63966588	+	Frame_Shift_Ins	INS	-	-	CACT			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr15:63966586_63966587C>CCACT	uc002amp.3	-	37	7948_7949	c.7800_7801G>AGTGG	c.(7798-7803)gtggttfs	p.V2600fs		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2600					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGCCCATGAACCACTAATTTAT	0.411												
PRSS8	5652	broad.mit.edu	37	16	31143847	31143852	+	In_Frame_Del	DEL	CAGTTA	CAGTTA	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr16:31143846_31143851GCAGTTA>G	uc002ebc.4	-	4	936_941	c.604_609TAACTGC>C	c.(604-609)aactgc>C	p.NC202del	PRSS8_uc010vfe.2_In_Frame_Del_p.NC148del	NM_002773	NP_002764	Q16651	PRSS8_HUMAN	Homo sapiens protease, serine, 8 (PRSS8), mRNA.	202	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						TGTTGTACAGGCAGTTACACGTCTCA	0.597												
ADAT1	23536	broad.mit.edu	37	16	75654629	75654630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr16:75654628_75654629T>TC	uc002feo.2	-	2	238_239	c.69_70A>GA	c.(67-72)gggaagfs	p.G23fs	ADAT1_uc002fep.2_5'UTR	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	Homo sapiens adenosine deaminase, tRNA-specific 1 (ADAT1), transcript variant 1, mRNA.	23					tRNA processing		RNA binding|metal ion binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						GGCTCAGGCTTCCCCTTCTTGG	0.525												
TP53	7157	broad.mit.edu	37	17	7578183	7578187	+	Frame_Shift_Del	DEL	CGGCT	CGGCT	-	rs72661118		TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr17:7578182_7578186GCGGCT>G	uc002gim.2	-	5	857_861	c.663_667AGCCGC>C	c.(661-669)gagccgcctfs	p.E221fs	TP53_uc002gig.1_Frame_Shift_Del_p.E221fs|TP53_uc002gih.3_Frame_Shift_Del_p.E221fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.E89fs|TP53_uc010cnf.1_Frame_Shift_Del_p.E89fs|TP53_uc002gii.1_Frame_Shift_Del_p.E89fs|TP53_uc010cni.1_Frame_Shift_Del_p.E221fs|TP53_uc010cnh.1_Frame_Shift_Del_p.E221fs|TP53_uc002gij.2_Frame_Shift_Del_p.E221fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.E128fs|TP53_uc002gio.2_Frame_Shift_Del_p.E89fs|TP53_uc010vug.2_Frame_Shift_Del_p.E182fs|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	221	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(238)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.P222P(10)|p.P222L(10)|p.Y220S(10)|p.E221*(8)|p.0?(8)|p.P222T(6)|p.P223P(4)|p.P223L(4)|p.E221E(4)|p.E221D(4)|p.P223fs*1(4)|p.P222S(4)|p.Y220fs*27(4)|p.Y220*(3)|p.E221fs*4(3)|p.Y220D(3)|p.P223S(2)|p.E221G(2)|p.P222fs*24(2)|p.P223A(2)|p.P223fs*24(2)|p.E221fs*26(2)|p.P223H(2)|p.Y220_P223delYEPP(2)|p.E221fs*2(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.P222A(2)|p.E221K(2)|p.V218_E224delVPYEPPE(2)|p.P222Q(2)|p.P222fs*25(2)|p.P223R(1)|p.P130fs*1(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y220fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGACCTCAGGCGGCTCATAGGGCA	0.551		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
NEUROD2	4761	broad.mit.edu	37	17	37761740	37761741	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr17:37761739_37761740TGG>T	uc002hry.3	-	1	1313_1314	c.1113_1114CCA>A	c.(1111-1116)cccatgfs	p.P371fs	NEUROD2_uc021tws.1_Frame_Shift_Del_p.P371fs	NM_006160	NP_006151	Q15784	NDF2_HUMAN	Homo sapiens neurogenic differentiation 2 (NEUROD2), mRNA.	371					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			TCCTCGTACATGGGGCCCCGGT	0.609												
KRT33A	3883	broad.mit.edu	37	17	39503141	39503142	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr17:39503140_39503141T>TGC	uc002hwk.1	-	4	868_869	c.831_832A>GCA	c.(829-834)cgcacgfs	p.R277fs		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	277	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GCATTGACCGTGCGTCTCAGCT	0.584												
GRN	2896	broad.mit.edu	37	17	42427601	42427601	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr17:42427600_42427600CA>C	uc002igp.1	+	4	573	c.354_354CA>C	c.(352-354)aacfs	p.N118fs	GRN_uc002igq.1_3'UTR	NM_002087	NP_002078	P28799	GRN_HUMAN	Homo sapiens granulin (GRN), mRNA.	118					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCACAGGTAACAACTCCGTGG	0.597												
ANKRD40	91369	broad.mit.edu	37	17	48776902	48776902	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr17:48776901_48776901CT>C	uc002iso.3	-	2	892	c.637_637AG>G	c.(637-639)gtgfs	p.V213fs		NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	Homo sapiens ankyrin repeat domain 40 (ANKRD40), mRNA.	213	Pro-rich.									breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			CTCTGACTCACTGGTGGCTGA	0.547												
CLTC	1213	broad.mit.edu	37	17	57743978	57743978	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr17:57743977_57743977TG>T	uc002ixr.1	+	11	2374	c.1931_1931TG>T	c.(1930-1932)gtgfs	p.V644fs	CLTC_uc002ixp.3_Frame_Shift_Del_p.V640fs|CLTC_uc002ixq.1_Frame_Shift_Del_p.V640fs	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	640	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AAACGTGCAGTGGTTCACACC	0.393			T	"""ALK, TFE3"""	"""ALCL, renal """							
TBCD	6904	broad.mit.edu	37	17	80888411	80888412	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr17:80888410_80888411A>AC	uc002kfy.1	+	32	3134_3135	c.3004_3005A>AC	c.(3004-3006)accfs	p.T1002fs	TBCD_uc002kfz.3_Frame_Shift_Ins_p.T1002fs|TBCD_uc002kgd.3_5'UTR	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	1002					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CCGGCACTCCACCCAGAGCCTC	0.609												
PHLPP1	23239	broad.mit.edu	37	18	60563240	60563241	+	Frame_Shift_Ins	INS	-	-	CTAA			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr18:60563239_60563240T>TCTAA	uc021ule.1	+	5	2684_2685	c.2439_2440T>TCTAA	c.(2437-2442)gatctafs	p.D813fs		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	813					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						AACATGTGGATCTAAGGTAACC	0.406												
WDR88	126248	broad.mit.edu	37	19	33647448	33647449	+	Splice_Site	INS	-	-	CA			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr19:33647447_33647448C>CCA	uc002nui.3	+	7	1075	c.997_splice	c.e7+1	p.S333_splice		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	333										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TTGCCAGAGACAGTGAGTAATT	0.500												
CEBPG	1054	broad.mit.edu	37	19	33870509	33870509	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr19:33870508_33870508GT>G	uc002nup.3	+	1	686	c.363_363GT>G	c.(361-363)ttgfs	p.L121fs	CEBPG_uc021usd.1_Frame_Shift_Del_p.L121fs|CEBPG_uc021use.1_Frame_Shift_Del_p.L121fs	NM_001806	NP_001797	P53567	CEBPG_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), gamma (CEBPG), transcript variant 1, mRNA.	121					B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					TCAAAGATTTGTTTCTTGAGC	0.433												
NDRG3	57446	broad.mit.edu	37	20	35317146	35317147	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr20:35317145_35317146T>TCA	uc002xfw.3	-	3	277_278	c.135_136A>TGA	c.(133-138)actatafs	p.T45fs	NDRG3_uc002xfx.3_Frame_Shift_Ins_p.T33fs|NDRG3_uc010zvq.2_Intron|NDRG3_uc010zvr.2_Intron	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA.	45					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm		p.I46V(2)		endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				AAGCCTCTTATAGTGACGTGGA	0.381												
SPATA2	9825	broad.mit.edu	37	20	48522190	48522191	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr20:48522189_48522190C>CT	uc010gie.3	-	2	1879_1880	c.1529_1530G>AG	c.(1528-1530)aagfs	p.K510fs	SPATA2_uc002xuw.3_Frame_Shift_Ins_p.K510fs|SPATA2_uc010zyn.2_Frame_Shift_Ins_p.K373fs	NM_001135773	NP_006029	Q9UM82	SPAT2_HUMAN	Homo sapiens spermatogenesis associated 2 (SPATA2), transcript variant 2, mRNA.	510					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GCTGGGTGGACTTGTAGTTCAG	0.535												
IL17REL	400935	broad.mit.edu	37	22	50436170	50436171	+	Splice_Site	INS	-	-	AACC			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr22:50436169_50436170G>GAACC	uc003bje.1	-	12	1052	c.820_splice	c.e12-1	p.F274_splice		NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN	Homo sapiens interleukin 17 receptor E-like (IL17REL), mRNA.	274										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AACTGGTAGAGAACTGCAAAGT	0.619												
AR	367	broad.mit.edu	37	X	66766579	66766580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chrX:66766578_66766579C>CT	uc004dwu.2	+	0	2705_2706	c.1590_1591C>CT	c.(1588-1593)agctacfs	p.S530fs	AR_uc011mpd.2_Frame_Shift_Ins_p.S530fs|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Frame_Shift_Ins_p.S530fs|AR_uc022byj.1_Non-coding_Transcript|AR_uc022byk.1_Frame_Shift_Ins_p.S530fs	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	529	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GGATGGATAGCTACTCCGGACC	0.569									Androgen Insensitivity Syndrome			
G6PD	2539	broad.mit.edu	37	X	153762645	153762652	+	Frame_Shift_Del	DEL	GGACAGCC	GGACAGCC	-			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chrX:153762644_153762651TGGACAGCC>T	uc004fly.1	-	5	659_666	c.546_553GGCTGTCCA>A	c.(544-555)cggctgtccaacfs	p.R182fs	G6PD_uc004flx.1_Frame_Shift_Del_p.R212fs	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.	182			R -> W (in Vancouver; class I).		cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	NADP binding|glucose binding|glucose-6-phosphate dehydrogenase activity|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					GAGATGTGGTTGGACAGCCGGTCAGAGC	0.620												
