Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_by_all_platform	validation_method	validation_tumor_sample
MRPL20	55052	broad.mit.edu	37	1	1337499	1337499	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:1337499A>G	uc001afo.3	-	4	510	c.414T>C	c.(412-414)CCT>CCC	p.P138P	CCNL2_uc001afh.2_5'Flank|CCNL2_uc001afj.2_5'Flank|CCNL2_uc001afk.2_5'Flank|CCNL2_uc001afi.2_5'Flank|LOC148413_uc001afn.1_RNA	NM_017971	NP_060441	Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20 precursor	138							protein binding|rRNA binding				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AAATGCCTTCAGGTTCCTTCC	0.463		NaN											0	0	0	0.007835	0	32	215				
KIAA0562	9731	broad.mit.edu	37	1	3740058	3740058	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:3740058C>A	uc001aky.2	-	19	2792	c.2433G>T	c.(2431-2433)AAG>AAT	p.K811N	KIAA0562_uc010nzm.1_RNA	NM_014704	NP_055519	O60308	CE104_HUMAN	glycine-, glutamate-,	811						centriole	binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)		AACGGTAACACTTTCCAAACC	0.507		NaN											1	0	0.000978159	0.010729	0.000997898	10	114				
CASZ1	54897	broad.mit.edu	37	1	10705093	10705093	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:10705093T>C	uc001aro.2	-	18	4069	c.3749A>G	c.(3748-3750)TAT>TGT	p.Y1250C		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGTCACAAAATAGCAGCCGGT	0.592		NaN											0	0	0	0.004289	0	27	205				
VPS13D	55187	broad.mit.edu	37	1	12405437	12405437	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:12405437C>T	uc001atv.2	+	43	9033	c.8892C>T	c.(8890-8892)ACC>ACT	p.T2964T	VPS13D_uc001atw.2_Silent_p.T2939T|VPS13D_uc001atx.2_Silent_p.T2151T	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2963					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACAGACACACCCATGACCTCC	0.438		NaN											0	0	0	0.00333	0	23	166				
PADI2	11240	broad.mit.edu	37	1	17395638	17395638	+	Silent	SNP	G	G	A	rs61731909		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:17395638G>A	uc001baf.2	-	16	1981	c.1899C>T	c.(1897-1899)GAC>GAT	p.D633D	PADI2_uc010ocm.1_Silent_p.D517D	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	633					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CAGAAATGTCGTCGATGAAGG	0.597		NaN											0	0	0	0.003954	0	19	173				
PADI1	29943	broad.mit.edu	37	1	17552329	17552329	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:17552329G>C	uc001bah.1	+	5	524	c.432G>C	c.(430-432)GAG>GAC	p.E144D		NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	peptidylarginine deiminase type I	144					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity				0		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GGGGCCCTGAGGGCTATGGGG	0.602		NaN											0	0	0	0.010504	0	18	150				
ZBTB40	9923	broad.mit.edu	37	1	22816495	22816495	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:22816495C>T	uc001bft.2	+	3	565	c.54C>T	c.(52-54)TGC>TGT	p.C18C	ZBTB40_uc001bfu.2_Silent_p.C18C|ZBTB40_uc009vqi.1_Silent_p.C18C	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	18					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		ACACTCTGTGCAAGGAGCAGC	0.547		NaN											0	0	0	0.004007	0	13	126				
EPHB2	2048	broad.mit.edu	37	1	23233202	23233202	+	Splice_Site	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:23233202G>C	uc009vqj.1	+	11	2034	c.1889_splice	c.e11-1	p.G630_splice	EPHB2_uc001bge.2_Splice_Site_p.G631_splice|EPHB2_uc001bgf.2_Splice_Site_p.G630_splice|EPHB2_uc010odu.1_Splice_Site_p.G572_splice	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor						axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TTCTCTCTCAGGGGAGTTTGG	0.567		NaN							Hereditary_Prostate_Cancer				0	0	0	0.00308	0	7	48				
PAQR7	164091	broad.mit.edu	37	1	26189908	26189908	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:26189908C>T	uc001bkx.2	-	2	1090	c.423G>A	c.(421-423)CTG>CTA	p.L141L		NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	141	Helical; Name=3; (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)	3		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		CCACATAGTCCAGGAAGAAGA	0.547		NaN											0	0	0	0.010771	0	36	181				
MACF1	23499	broad.mit.edu	37	1	39801743	39801743	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:39801743A>G	uc010oiu.1	+	1	4934	c.4803A>G	c.(4801-4803)CAA>CAG	p.Q1601Q	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3166					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAAACATCAAATTTCCTCAT	0.373		NaN											0	0	0	0.010504	0	20	102				
PLK3	1263	broad.mit.edu	37	1	45266717	45266717	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:45266717G>C	uc001cmn.2	+	3	428	c.328G>C	c.(328-330)GAG>CAG	p.E110Q	PLK3_uc001cmo.2_RNA	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	110	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)					GATCCTAAATGAGATTGAGCT	0.587		NaN											0	0	0	0.001168	0	5	113				
STIL	6491	broad.mit.edu	37	1	47746122	47746122	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:47746122C>G	uc001crc.1	-	12	2163	c.2008G>C	c.(2008-2010)GAT>CAT	p.D670H	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.D623H|STIL_uc010omo.1_Missense_Mutation_p.D670H|STIL_uc001crd.1_Missense_Mutation_p.D670H|STIL_uc001cre.1_Missense_Mutation_p.D670H|STIL_uc001crf.1_Missense_Mutation_p.D283H|STIL_uc001crg.1_Missense_Mutation_p.D623H	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	670	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CTGCCCATATCTCCCTGAGGT	0.473		NaN											0	0	0	0.01441	0	50	135				
TMEM61	199964	broad.mit.edu	37	1	55457707	55457707	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:55457707T>C	uc001cyd.2	+	3	838	c.564T>C	c.(562-564)TCT>TCC	p.S188S		NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	188						integral to membrane					0						ATGCCGTTTCTGCGGAGACGA	0.612		NaN											0	0	0	0.01441	0	93	209				
LHX8	431707	broad.mit.edu	37	1	75622729	75622729	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:75622729C>T	uc001dgo.2	+	9	1626	c.962C>T	c.(961-963)ACG>ATG	p.T321M	LHX8_uc001dgq.2_Missense_Mutation_p.T260M	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	321						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CAAGATGGAACGATGTTAACT	0.478		NaN											0	0	0	0.00278	0	18	84				
NEXN	91624	broad.mit.edu	37	1	78383288	78383288	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:78383288A>G	uc001dic.3	+	3	362	c.65A>G	c.(64-66)TAT>TGT	p.Y22C	NEXN_uc001dia.3_Missense_Mutation_p.Y22C|NEXN_uc009wcb.1_Intron|NEXN_uc001dib.3_Intron|NEXN_uc001did.1_5'Flank|NEXN_uc001dif.1_5'Flank	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	22					regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			ovary(2)	2				Colorectal(170;0.114)		CCAAAAACCTATGTACCAAAA	0.348		NaN											0	0	0	0.013537	0	10	51				
COL24A1	255631	broad.mit.edu	37	1	86304318	86304318	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:86304318G>C	uc001dlj.2	-	43	3673	c.3631C>G	c.(3631-3633)CCA>GCA	p.P1211A	COL24A1_uc001dli.2_Missense_Mutation_p.P347A|COL24A1_uc010osd.1_Missense_Mutation_p.P511A|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1211	Collagen-like 13.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCCCCACTGGACCCTACAGA	0.408		NaN											0	0	0	0.003271	0	25	133				
GBP1	2633	broad.mit.edu	37	1	89525999	89525999	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:89525999G>T	uc001dmx.2	-	3	419	c.199C>A	c.(199-201)CTG>ATG	p.L67M		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	67					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GTGGAGCCCAGAGAGAAGCCT	0.517		NaN											1	0	1.99824e-07	0.00499	2.12429e-07	14	112				
LRIG2	9860	broad.mit.edu	37	1	113655277	113655277	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:113655277G>A	uc001edf.1	+	14	2173	c.1975G>A	c.(1975-1977)GTC>ATC	p.V659I	LRIG2_uc009wgn.1_Missense_Mutation_p.V556I	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	659	Ig-like C2-type 2.|Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CGAGGATGACGTCTTCTTTAT	0.483		NaN											0	0	0	0.006214	0	10	56				
FMO5	2330	broad.mit.edu	37	1	146658516	146658516	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:146658516G>A	uc001epi.2	-	9	1954	c.1565C>T	c.(1564-1566)GCT>GTT	p.A522V	FMO5_uc001eph.3_Intron|FMO5_uc001epj.2_3'UTR	NM_001461	NP_001452	P49326	FMO5_HUMAN	flavin containing monooxygenase 5 isoform 1	522						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			ovary(3)	3	all_hematologic(923;0.0487)					GAAGGCAAGAGCTAGCATAAA	0.403		NaN											0	0	0	0.008291	0	9	76				
TCHHL1	126637	broad.mit.edu	37	1	152059640	152059640	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:152059640G>C	uc001ezo.1	-	3	583	c.518C>G	c.(517-519)TCT>TGT	p.S173C		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	173							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ATTGTGTTCAGATGCTTCTCC	0.438		NaN											0	0	0	0.008291	0	9	127				
TCHHL1	126637	broad.mit.edu	37	1	152060608	152060608	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:152060608G>C	uc001ezo.1	-	2	77	c.12C>G	c.(10-12)CTC>CTG	p.L4L		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	4							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CATTTCTCAGGAGCTGAGGCA	0.458		NaN											0	0	0	0.004482	0	7	105				
HRNR	388697	broad.mit.edu	37	1	152185716	152185716	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:152185716C>G	uc001ezt.1	-	3	8465	c.8389G>C	c.(8389-8391)GGT>CGT	p.G2797R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2797	30.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTATAACCAGAGGACTGT	0.537		NaN											0	0	0	0.00333	0	21	166				
TPM3	7170	broad.mit.edu	37	1	154141837	154141837	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:154141837C>T	uc001fec.1	-	9	913	c.798G>A	c.(796-798)CTG>CTA	p.L266L	TPM3_uc001fdx.1_Intron|TPM3_uc010pei.1_Intron|TPM3_uc001fdy.1_Intron|TPM3_uc001fdz.1_Intron|TPM3_uc001fea.1_Intron|TPM3_uc001feb.1_Intron|TPM3_uc010pej.1_Intron|TPM3_uc009wor.2_Intron|TPM3_uc001fed.1_Silent_p.L229L	NM_152263	NP_689476	P06753	TPM3_HUMAN	tropomyosin 3 isoform 1	265	By similarity.				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/ALK(33)	haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)|skin(1)	34	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CCTTGTACTTCAGTTTCTGGG	0.517		NaN	T	NTRK1|ALK	papillary thyroid|ALCL								0	0	0	0.008291	0	8	131				
SMG5	23381	broad.mit.edu	37	1	156230278	156230278	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:156230278A>G	uc001foc.3	-	15	2396	c.2247T>C	c.(2245-2247)TTT>TTC	p.F749F	SMG5_uc009wrv.2_Silent_p.F234F	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	749					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					GATCCGTGTCAAAGTTAAAGC	0.547		NaN											0	0	0	0.010818	0	24	179				
POGK	57645	broad.mit.edu	37	1	166818806	166818806	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:166818806C>G	uc001gdt.1	+	5	1110	c.990C>G	c.(988-990)CAC>CAG	p.H330Q	POGK_uc010ple.1_Missense_Mutation_p.H245Q|POGK_uc010plf.1_Missense_Mutation_p.H212Q	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	330					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						TGCCCCAGCACCTGCCGGAAG	0.547		NaN											0	0	0	0.007835	0	35	118				
FMO4	2329	broad.mit.edu	37	1	171310693	171310693	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:171310693A>G	uc001gho.2	+	10	1609	c.1392A>G	c.(1390-1392)GGA>GGG	p.G464G		NM_002022	NP_002013	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	464					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			kidney(2)|skin(1)	3	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTTTCTTTGGACCATGTACTC	0.498		NaN											0	0	0	0.00499	0	14	113				
DNM3	26052	broad.mit.edu	37	1	172017833	172017833	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:172017833G>C	uc001gie.2	+	10	1454	c.1278G>C	c.(1276-1278)AAG>AAC	p.K426N	DNM3_uc001gid.3_Missense_Mutation_p.K426N|DNM3_uc009wwb.2_Missense_Mutation_p.K426N|DNM3_uc001gif.2_Missense_Mutation_p.K426N	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	426					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1						CTTCCTTGAAGAGTGTGGATC	0.383		NaN											0	0	0	0.00308	0	7	150				
SOAT1	6646	broad.mit.edu	37	1	179320559	179320559	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:179320559C>G	uc001gml.2	+	15	1621	c.1558C>G	c.(1558-1560)CAA>GAA	p.Q520E	SOAT1_uc010pni.1_Missense_Mutation_p.Q455E|SOAT1_uc001gmm.2_Missense_Mutation_p.Q462E|SOAT1_uc010pnj.1_Missense_Mutation_p.Q256E|SOAT1_uc010pnk.1_Missense_Mutation_p.Q455E	NM_003101	NP_003092	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	520					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|skin(1)	2					Ezetimibe(DB00973)|Hesperetin(DB01094)	CTTTTATTCTCAAGAATGGTA	0.418		NaN											0	0	0	0.013537	0	10	249				
CACNA1E	777	broad.mit.edu	37	1	181759626	181759626	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:181759626G>T	uc001gow.2	+	44	5997	c.5832G>T	c.(5830-5832)CAG>CAT	p.Q1944H	CACNA1E_uc009wxs.2_Missense_Mutation_p.Q1832H|CACNA1E_uc009wxt.2_Missense_Mutation_p.Q1170H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1944	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TCTCTCCCCAGGATATATTCC	0.493		NaN											1	0	2.18419e-29	0.01441	2.50962e-29	52	106				
CFH	3075	broad.mit.edu	37	1	196659330	196659330	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:196659330G>A	uc001gtj.3	+	9	1537	c.1297G>A	c.(1297-1299)GAG>AAG	p.E433K	CFH_uc001gti.3_Missense_Mutation_p.E433K|CFH_uc009wyw.2_Missense_Mutation_p.E408K|CFH_uc009wyx.2_Missense_Mutation_p.E369K	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	433	Sushi 7.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TACATGTATGGAGAATGGCTG	0.433		NaN											0	0	0	0.001984	0	5	112				
DDX59	83479	broad.mit.edu	37	1	200617674	200617674	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:200617674C>T	uc009wzk.2	-	7	1732	c.1489G>A	c.(1489-1491)GAA>AAA	p.E497K	DDX59_uc010ppl.1_Missense_Mutation_p.E497K	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	497	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			ovary(2)|breast(1)|central_nervous_system(1)	4						ACTACAACTTCATAGTCTCCT	0.363		NaN											0	0	0	0.010729	0	10	235				
KIF21B	23046	broad.mit.edu	37	1	200967639	200967639	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:200967639G>C	uc001gvs.1	-	14	2267	c.1950C>G	c.(1948-1950)ATC>ATG	p.I650M	KIF21B_uc001gvr.1_Missense_Mutation_p.I650M|KIF21B_uc009wzl.1_Missense_Mutation_p.I650M|KIF21B_uc010ppn.1_Missense_Mutation_p.I650M	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	650	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						CCAGCTCGTCGATCAGCTTCT	0.562		NaN											0	0	0	0.004656	0	23	235				
KDM5B	10765	broad.mit.edu	37	1	202743773	202743773	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:202743773T>C	uc001gyf.2	-	3	489	c.373A>G	c.(373-375)AGG>GGG	p.R125G	KDM5B_uc009xag.2_Missense_Mutation_p.R125G|KDM5B_uc001gyg.1_5'UTR	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	125	ARID.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						AAGATCTTCCTCTCCACATGT	0.358		NaN											0	0	0	0.012319	0	17	68				
C4BPA	722	broad.mit.edu	37	1	207300065	207300065	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:207300065C>T	uc001hfo.2	+	7	908	c.714C>T	c.(712-714)ACC>ACT	p.T238T		NM_000715	NP_000706	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	238	Sushi 4.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						TAGAAATCACCTGTCGCAAGC	0.373		NaN											0	0	0	0.004656	0	21	100				
WDR26	80232	broad.mit.edu	37	1	224588738	224588738	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:224588738G>A	uc001hop.3	-	9	1258	c.892C>T	c.(892-894)CAT>TAT	p.H298Y	WDR26_uc001hoq.3_Missense_Mutation_p.H282Y|WDR26_uc010pvh.1_Missense_Mutation_p.H5Y	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	WD repeat domain 26 isoform a	445	WD 3.					cytoplasm|nucleus					0				GBM - Glioblastoma multiforme(131;0.0104)		CTGTCTTCATGAGACTGGCTC	0.418		NaN											0	0	0	0.008291	0	9	55				
TMEM63A	9725	broad.mit.edu	37	1	226053628	226053628	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:226053628C>T	uc001hpm.1	-	10	965	c.715G>A	c.(715-717)GCC>ACC	p.A239T		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	239						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					TCCTTCCTGGCATCTCTGGGG	0.627		NaN											0	0	0	0.010504	0	14	36				
OR13G1	441933	broad.mit.edu	37	1	247835472	247835472	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:247835472T>A	uc001idi.1	-	1	872	c.872A>T	c.(871-873)AAT>ATT	p.N291I		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	291	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATCTCCCTATTCTGGAAGCT	0.448		NaN											0	0	0	0.00308	0	6	152				
TRIM58	25893	broad.mit.edu	37	1	248039733	248039733	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:248039733A>G	uc001ido.2	+	6	1451	c.1403A>G	c.(1402-1404)AAT>AGT	p.N468S	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	468						intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGGTCAGGAAATTGGGCATCC	0.448		NaN											0	0	0	0.009535	0	26	81				
OR2T1	26696	broad.mit.edu	37	1	248570047	248570047	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:248570047T>C	uc010pzm.1	+	1	752	c.752T>C	c.(751-753)GTG>GCG	p.V251A		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	251	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGATGTATGTGTGCTGTGTT	0.507		NaN											0	0	0	0.007291	0	26	89				
SLC39A12	221074	broad.mit.edu	37	10	18289692	18289692	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:18289692C>T	uc001ipo.2	+	11	1970	c.1697C>T	c.(1696-1698)TCA>TTA	p.S566L	SLC39A12_uc001ipn.2_Missense_Mutation_p.S529L|SLC39A12_uc001ipp.2_Missense_Mutation_p.S565L|SLC39A12_uc010qck.1_Missense_Mutation_p.S432L	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	566	Poly-Ser.|Cytoplasmic (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						TTCTCATCATCATCCGAGTCA	0.443		NaN											0	0	0	0.000602	0	5	75				
KIAA1217	56243	broad.mit.edu	37	10	24822144	24822144	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:24822144A>G	uc001iru.3	+	16	3795	c.3392A>G	c.(3391-3393)GAC>GGC	p.D1131G	KIAA1217_uc001irs.2_Missense_Mutation_p.D1051G|KIAA1217_uc001irt.3_Missense_Mutation_p.D1096G|KIAA1217_uc010qcy.1_Missense_Mutation_p.D1095G|KIAA1217_uc010qcz.1_Missense_Mutation_p.D1096G|KIAA1217_uc001irw.2_Missense_Mutation_p.D814G|KIAA1217_uc001irz.2_Missense_Mutation_p.D814G|KIAA1217_uc001irx.2_Missense_Mutation_p.D814G|KIAA1217_uc001iry.2_Missense_Mutation_p.D814G	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1131					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						GAAGAAGGAGACAAAATAATG	0.537		NaN											0	0	0	0.010729	0	9	72				
PTCHD3	374308	broad.mit.edu	37	10	27703135	27703135	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:27703135C>T	uc001itu.2	-	1	163	c.45G>A	c.(43-45)AAG>AAA	p.K15K		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	15					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						TGAGCTTGGGCTTCTGCTCCG	0.642		NaN											0	0	0	0.007835	0	36	188				
TMEM72	643236	broad.mit.edu	37	10	45430459	45430459	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:45430459C>T	uc001jbn.2	+	5	902	c.705C>T	c.(703-705)CTC>CTT	p.L235L	uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Silent_p.L117L	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	transmembrane protein 72	235						integral to membrane					0						TCCCCTCCCTCGCCGAAGGTC	0.602		NaN											0	0	0	0.008291	0	9	176				
OGDHL	55753	broad.mit.edu	37	10	50957813	50957813	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:50957813T>A	uc001jie.2	-	8	1088	c.946A>T	c.(946-948)ATC>TTC	p.I316F	OGDHL_uc009xog.2_Missense_Mutation_p.I343F|OGDHL_uc010qgt.1_Missense_Mutation_p.I259F|OGDHL_uc010qgu.1_Missense_Mutation_p.I107F|OGDHL_uc009xoh.2_Missense_Mutation_p.I107F	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	316					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						TGGCAGAAGATCTGCTCCAGG	0.662		NaN											0	0	0	0.000602	0	4	26				
ARID5B	84159	broad.mit.edu	37	10	63850916	63850916	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:63850916C>T	uc001jlt.1	+	10	1720	c.1694C>T	c.(1693-1695)ACC>ATC	p.T565I		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	565					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					CAGCCACTCACCTCTCCTAGT	0.562		NaN											0	0	0	0.004007	0	14	62				
EGR2	1959	broad.mit.edu	37	10	64573654	64573654	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:64573654G>C	uc010qim.1	-	3	898	c.744C>G	c.(742-744)CCC>CCG	p.P248P	EGR2_uc010qin.1_Silent_p.P198P|EGR2_uc001jmi.2_Silent_p.P248P|EGR2_uc010qio.1_Silent_p.P261P|EGR2_uc009xph.2_Silent_p.P248P	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	248					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGCAGGGAAAGGGCTTACGGT	0.597		NaN											0	0	0	0.007413	0	16	95				
EGR2	1959	broad.mit.edu	37	10	64575748	64575748	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:64575748G>A	uc010qim.1	-	2	196	c.42C>T	c.(40-42)CTC>CTT	p.L14L	EGR2_uc010qin.1_Intron|EGR2_uc001jmi.2_Silent_p.L14L|EGR2_uc010qio.1_Intron|EGR2_uc009xph.2_Silent_p.L14L	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	14					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAAAACCACTGAGAGTTACTG	0.572		NaN											0	0	0	0.00632	0	21	369				
REEP3	221035	broad.mit.edu	37	10	65369972	65369972	+	Nonsense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:65369972T>G	uc001jmt.2	+	6	626	c.443T>G	c.(442-444)TTA>TGA	p.L148*		NM_001001330	NP_001001330	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	148						integral to membrane					0	Prostate(12;0.0119)|all_hematologic(501;0.191)					ACTGAACGTTTAAGAAGCTTC	0.328		NaN											0	0	0	0.004672	0	3	10				
DNA2	1763	broad.mit.edu	37	10	70182518	70182518	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:70182518G>A	uc001jof.2	-	15	2596	c.2596C>T	c.(2596-2598)CGG>TGG	p.R866W	DNA2_uc001jog.1_Intron|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	780					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						ACAAATCTCCGTGAAAAAAAA	0.408		NaN											0	0	0	0.00308	0	8	22				
SYNPO2L	79933	broad.mit.edu	37	10	75407279	75407279	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:75407279G>C	uc001jut.3	-	4	2283	c.2131C>G	c.(2131-2133)CCC>GCC	p.P711A	SYNPO2L_uc001jus.3_Missense_Mutation_p.P487A	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	711	Pro-rich.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)					GGGGTCTTGGGAGCCATTGGA	0.627		NaN											0	0	0	0.006999	0	31	133				
GRID1	2894	broad.mit.edu	37	10	87362131	87362131	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:87362131G>A	uc001kdl.1	-	16	3030	c.2929C>T	c.(2929-2931)CGG>TGG	p.R977W	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.R548W|uc001kdk.1_Intron	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	977	Cytoplasmic (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	GGGCTCTGCCGGAACAGCCCC	0.667		NaN								Multiple Myeloma(13;0.14)			0	0	0	0.003954	0	21	96				
NUP98	4928	broad.mit.edu	37	11	3746382	3746382	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:3746382C>T	uc001lyh.2	-	15	2089	c.1798G>A	c.(1798-1800)GAT>AAT	p.D600N	NUP98_uc001lyi.2_Missense_Mutation_p.D600N|NUP98_uc001lyj.1_Missense_Mutation_p.D600N|NUP98_uc001lyk.1_Missense_Mutation_p.D617N	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	617					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TTTTCTGAATCACGATTAACA	0.328		NaN	T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								0	0	0	0.00308	0	7	57				
OR52K2	119774	broad.mit.edu	37	11	4470668	4470668	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:4470668C>G	uc001lyz.1	+	1	99	c.99C>G	c.(97-99)TTC>TTG	p.F33L		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATCCCTTTCTGCTTAGCAT	0.517		NaN											0	0	0	0.010504	0	18	112				
TEAD1	7003	broad.mit.edu	37	11	12901332	12901332	+	Silent	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:12901332T>A	uc001mkj.3	+	6	1028	c.363T>A	c.(361-363)ATT>ATA	p.I121I	TEAD1_uc001mkk.3_Silent_p.I40I|TEAD1_uc009ygl.2_Silent_p.I15I	NM_021961	NP_068780	P28347	TEAD1_HUMAN	TEA domain family member 1	136					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCACTGCCATTCATAACAAGC	0.597		NaN											0	0	0	0.001168	0	5	106				
ACCSL	390110	broad.mit.edu	37	11	44075044	44075044	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:44075044A>C	uc001mxw.1	+	8	1093	c.1037A>C	c.(1036-1038)GAA>GCA	p.E346A	ACCSL_uc009ykr.2_Missense_Mutation_p.E165A	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	346							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						AAATACCTGGAATTTGCCAAG	0.433		NaN											0	0	0	0.008291	0	8	63				
DGKZ	8525	broad.mit.edu	37	11	46397494	46397494	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:46397494G>T	uc001ncn.1	+	22	2693	c.2568G>T	c.(2566-2568)AAG>AAT	p.K856N	DGKZ_uc001nch.1_Missense_Mutation_p.K684N|DGKZ_uc010rgq.1_Missense_Mutation_p.K611N|DGKZ_uc001ncj.1_Missense_Mutation_p.K634N|DGKZ_uc010rgr.1_Missense_Mutation_p.K633N|DGKZ_uc001nck.1_Missense_Mutation_p.K446N|DGKZ_uc001ncl.2_Missense_Mutation_p.K668N|DGKZ_uc001ncm.2_Missense_Mutation_p.K667N|DGKZ_uc009yky.1_Missense_Mutation_p.K668N|DGKZ_uc010rgs.1_Missense_Mutation_p.K645N	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	diacylglycerol kinase zeta isoform 4	856					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			pancreas(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		AGCAGCTCAAGGAGGCCTGTG	0.687		NaN											1	0	0.004672	0.004672	0.00475562	3	16				
OR8H2	390151	broad.mit.edu	37	11	55872742	55872742	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:55872742C>G	uc010riy.1	+	1	224	c.224C>G	c.(223-225)TCA>TGA	p.S75*		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	75	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	Esophageal squamous(21;0.00693)					CTCAGTTACTCAACTGTCGTC	0.438		NaN								HNSCC(53;0.14)			0	0	0	0.004656	0	22	485				
OR8H2	390151	broad.mit.edu	37	11	55873336	55873336	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:55873336T>C	uc010riy.1	+	1	818	c.818T>C	c.(817-819)GTG>GCG	p.V273A		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	273	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	Esophageal squamous(21;0.00693)					AGAGATCAAGTGGCTTCTGTT	0.373		NaN								HNSCC(53;0.14)			0	0	0	0.007413	0	16	96				
OR10Q1	219960	broad.mit.edu	37	11	57995840	57995840	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:57995840G>T	uc010rkd.1	-	1	508	c.508C>A	c.(508-510)CTG>ATG	p.L170M		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	170	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)				CAAAAGGGCAGGGTGAAGATT	0.652		NaN											1	0	0.000602214	0.000602	0.000615747	5	48				
AHNAK	79026	broad.mit.edu	37	11	62291760	62291760	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62291760C>G	uc001ntl.2	-	5	10429	c.10129G>C	c.(10129-10131)GAT>CAT	p.D3377H	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3377					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				ATGTCAATATCTGGCTTTTTA	0.383		NaN											0	0	0	0.006214	0	8	95				
AHNAK	79026	broad.mit.edu	37	11	62292043	62292043	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62292043C>G	uc001ntl.2	-	5	10146	c.9846G>C	c.(9844-9846)AAG>AAC	p.K3282N	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3282					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TGTCAGGCATCTTCAGTTTTG	0.428		NaN											0	0	0	0.006214	0	6	121				
AHNAK	79026	broad.mit.edu	37	11	62292768	62292768	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62292768C>G	uc001ntl.2	-	5	9421	c.9121G>C	c.(9121-9123)GAT>CAT	p.D3041H	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3041					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				ACATCCACATCTGGGCCCTCT	0.522		NaN											0	0	0	0.004289	0	28	401				
AHNAK	79026	broad.mit.edu	37	11	62292797	62292797	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62292797C>G	uc001ntl.2	-	5	9392	c.9092G>C	c.(9091-9093)AGC>ACC	p.S3031T	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3031					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GCCAGGCATGCTGAATTTGGG	0.532		NaN											0	0	0	0.005524	0	30	424				
AHNAK	79026	broad.mit.edu	37	11	62294178	62294178	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62294178C>G	uc001ntl.2	-	5	8011	c.7711G>C	c.(7711-7713)GAG>CAG	p.E2571Q	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2571					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				ATGTTCATCTCTGGCATCTTT	0.473		NaN											0	0	0	0.00333	0	19	260				
METTL12	751071	broad.mit.edu	37	11	62434192	62434192	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62434192C>T	uc001nug.1	+	3	651	c.392C>T	c.(391-393)CCT>CTT	p.P131L	C11orf48_uc001nue.2_Intron|C11orf48_uc001nuf.2_Intron|METTL12_uc001nuh.2_3'UTR|METTL12_uc010rmc.1_RNA	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN	methyltransferase like 12 precursor	131						mitochondrion	methyltransferase activity				0						CCTCTATGCCCTGGACACCCT	0.597		NaN											0	0	0	0.008291	0	11	61				
ZBTB3	79842	broad.mit.edu	37	11	62521022	62521022	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62521022G>C	uc001nuz.2	-	2	387	c.265C>G	c.(265-267)CGG>GGG	p.R89G		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	89	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3						AGCACAGCCCGATGGGCCAAG	0.557		NaN											0	0	0	0.009096	0	4	26				
SLC29A2	3177	broad.mit.edu	37	11	66133943	66133943	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:66133943G>C	uc001oht.2	-	8	1055	c.826C>G	c.(826-828)CAG>GAG	p.Q276E	SLC29A2_uc001ohs.2_Missense_Mutation_p.Q156E|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.Q156E|SLC29A2_uc001ohu.2_Missense_Mutation_p.Q276E|SLC29A2_uc001ohv.2_Intron|uc001ohw.1_5'Flank	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	276					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						CCTGGCTTCTGGGGCTCATCT	0.532		NaN											0	0	0	0.010729	0	10	56				
C11orf80	79703	broad.mit.edu	37	11	66571581	66571581	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:66571581C>A	uc001ojf.2	+	9	965	c.958C>A	c.(958-960)CTG>ATG	p.L320M	C11orf80_uc001ojg.2_Missense_Mutation_p.L86M|C11orf80_uc001ojh.2_Missense_Mutation_p.L87M|C11orf80_uc001oji.2_Missense_Mutation_p.L87M|C11orf80_uc010rpk.1_Missense_Mutation_p.L155M	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	hypothetical protein LOC79703	165											0						GTTGGGAGAACTGATACTGAC	0.463		NaN											1	0	1.59361e-14	0.006999	1.76421e-14	41	156				
CLPB	81570	broad.mit.edu	37	11	72069953	72069953	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:72069953T>C	uc001osj.2	-	6	886	c.836A>G	c.(835-837)TAC>TGC	p.Y279C	CLPB_uc010rqx.1_Missense_Mutation_p.Y234C|CLPB_uc010rqy.1_Missense_Mutation_p.Y220C|CLPB_uc001osk.2_Missense_Mutation_p.Y249C|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.Y78C	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	279	ANK 3.				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						GACAGTGCGGTAGTCATCAGC	0.413		NaN											0	0	0	0.003163	0	11	143				
CHRDL2	25884	broad.mit.edu	37	11	74422031	74422031	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:74422031G>C	uc001ovi.2	-	4	548	c.295C>G	c.(295-297)CAC>GAC	p.H99D	CHRDL2_uc001ovg.2_5'UTR|CHRDL2_uc001ovh.2_Missense_Mutation_p.H99D|CHRDL2_uc001ovk.1_Missense_Mutation_p.H99D			Q6WN34	CRDL2_HUMAN	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;	99					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)					GAGGGAGTGTGAGGTTCTGCA	0.517		NaN											0	0	0	0.006214	0	7	54				
SESN3	143686	broad.mit.edu	37	11	94910950	94910950	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:94910950C>T	uc001pfk.1	-	8	1402	c.1180G>A	c.(1180-1182)GAG>AAG	p.E394K	SESN3_uc010rug.1_Missense_Mutation_p.E255K	NM_144665	NP_653266	P58005	SESN3_HUMAN	sestrin 3	394					cell cycle arrest	nucleus					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TCAACATCCTCATGGGTGGCC	0.388		NaN											0	0	0	0.013537	0	11	84				
YAP1	10413	broad.mit.edu	37	11	102100657	102100657	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:102100657C>T	uc001pgt.2	+	9	1871	c.1501C>T	c.(1501-1503)CTT>TTT	p.L501F	YAP1_uc001pgs.2_Missense_Mutation_p.L451F|YAP1_uc001pgu.2_Missense_Mutation_p.L485F|YAP1_uc001pgv.2_Missense_Mutation_p.L447F|YAP1_uc010ruo.1_Missense_Mutation_p.L323F|YAP1_uc001pgw.2_Missense_Mutation_p.L325F|YAP1_uc010rup.1_Missense_Mutation_p.L266F	NM_001130145	NP_001123617	P46937	YAP1_HUMAN	Yes-associated protein 1, 65kDa isoform 1	501	Transactivation domain.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		AGAAAGCTTTCTTACATGGTT	0.438		NaN											0	0	0	0.00278	0	19	118				
DYNC2H1	79659	broad.mit.edu	37	11	103055726	103055726	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:103055726A>G	uc001pho.2	+	41	6723	c.6579A>G	c.(6577-6579)ATA>ATG	p.I2193M	DYNC2H1_uc001phn.1_Missense_Mutation_p.I2193M|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2193					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTAATCTCATAAGGGGACTTG	0.348		NaN											0	0	0	0.00333	0	20	53				
DYNC2H1	79659	broad.mit.edu	37	11	103270433	103270433	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:103270433C>T	uc001pho.2	+	84	12343	c.12199C>T	c.(12199-12201)CGA>TGA	p.R4067*	DYNC2H1_uc001phn.1_Nonsense_Mutation_p.R4074*|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4067					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCCTAACGATCGACAAGGATC	0.348		NaN											0	0	0	0.00499	0	13	31				
ATM	472	broad.mit.edu	37	11	108122629	108122629	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:108122629G>T	uc001pkb.1	+	11	2058	c.1673G>T	c.(1672-1674)GGA>GTA	p.G558V	ATM_uc009yxr.1_Missense_Mutation_p.G558V	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	558					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.G558*(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTAAAAATGGGAATAGAGCAA	0.353		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			1	0	1.45105e-14	0.006122	1.61425e-14	16	87		Inconclusive		
ATM	472	broad.mit.edu	37	11	108201015	108201015	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:108201015G>C	uc001pkb.1	+	50	7767	c.7382G>C	c.(7381-7383)CGC>CCC	p.R2461P	ATM_uc009yxr.1_Missense_Mutation_p.R2461P|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.R1113P|ATM_uc001pkg.1_Missense_Mutation_p.R818P	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2461	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GATCGTAAACGCTTCTTATGT	0.388		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	0.010729	0	10	44		Valid		
ASAM	79827	broad.mit.edu	37	11	122953891	122953891	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:122953891A>G	uc001pyt.2	-	5	940	c.581T>C	c.(580-582)CTG>CCG	p.L194P		NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN	adipocyte-specific adhesion molecule precursor	194	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|tight junction					0		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		ATTCTGCAGCAGAACTCGTCC	0.443		NaN											0	0	0	0.013537	0	11	134				
ACRV1	56	broad.mit.edu	37	11	125547901	125547901	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:125547901G>A	uc001qcs.2	-	2	611	c.344C>T	c.(343-345)TCA>TTA	p.S115L	ACRV1_uc001qck.2_Missense_Mutation_p.S45L|ACRV1_uc001qcl.2_Missense_Mutation_p.S45L|ACRV1_uc001qcm.2_Intron|ACRV1_uc001qcn.2_Missense_Mutation_p.S60L|ACRV1_uc001qco.2_Intron|ACRV1_uc001qcp.2_Intron|ACRV1_uc001qcq.2_Missense_Mutation_p.S45L|ACRV1_uc001qcr.2_Missense_Mutation_p.S115L	NM_001612	NP_001603	P26436	ASPX_HUMAN	acrosomal vesicle protein 1 isoform a precursor	115	4 X 4 AA repeats of S-G-E-H.|3-2.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development	acrosomal vesicle					0	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		CTGTTCTCCTGAAGGCTGCTC	0.527		NaN											0	0	0	0.010729	0	11	160				
KDM5A	5927	broad.mit.edu	37	12	431654	431654	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:431654C>T	uc001qif.1	-	17	2718	c.2355G>A	c.(2353-2355)AGG>AGA	p.R785R	KDM5A_uc001qie.1_Silent_p.R785R|KDM5A_uc010sdn.1_Silent_p.R744R	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	785					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						TTACAGCATCCCTGAGTTTTC	0.373		NaN	T 	NUP98	AML								0	0	0	0.00499	0	16	143				
PLEKHA5	54477	broad.mit.edu	37	12	19427653	19427653	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:19427653T>A	uc001reb.2	+	10	1117	c.1031T>A	c.(1030-1032)GTA>GAA	p.V344E	PLEKHA5_uc010sie.1_Missense_Mutation_p.V350E|PLEKHA5_uc001rea.2_Missense_Mutation_p.V344E|PLEKHA5_uc009zin.2_Missense_Mutation_p.V102E|PLEKHA5_uc010sif.1_Missense_Mutation_p.V236E|PLEKHA5_uc010sig.1_Missense_Mutation_p.V236E|PLEKHA5_uc010sih.1_Missense_Mutation_p.V236E|PLEKHA5_uc001rec.1_Missense_Mutation_p.V32E	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	344							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATTAATAGTGTAAAGCTGAAT	0.383		NaN											0	0	0	0.005443	0	23	127				
C12orf77	196415	broad.mit.edu	37	12	25148970	25148970	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:25148970G>C	uc001rgf.2	-	3	383	c.178C>G	c.(178-180)CTA>GTA	p.L60V		NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN	hypothetical protein LOC196415	60											0						CCAGTGGGTAGAGAACCCGGC	0.458		NaN											0	0	0	0.001168	0	5	42				
ITPR2	3709	broad.mit.edu	37	12	26647234	26647234	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:26647234G>A	uc001rhg.2	-	39	5639	c.5222C>T	c.(5221-5223)TCA>TTA	p.S1741L	ITPR2_uc009zjg.1_5'UTR	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1741	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					GTCTGACATTGATATCCCCAT	0.338		NaN											0	0	0	0.007413	0	13	53				
TM7SF3	51768	broad.mit.edu	37	12	27135731	27135731	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:27135731G>C	uc010sjl.1	-	7	1168	c.930C>G	c.(928-930)TTC>TTG	p.F310L		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3 precursor	310	Phe-rich.|Helical; (Potential).					integral to membrane|plasma membrane				upper_aerodigestive_tract(2)	2	Colorectal(261;0.0847)					TGTGTCCAAAGAAACAAATGA	0.368		NaN											0	0	0	0.00308	0	6	36				
FAM60A	58516	broad.mit.edu	37	12	31446847	31446847	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:31446847C>T	uc010sjz.1	-	4	486	c.247G>A	c.(247-249)GGA>AGA	p.G83R	FAM60A_uc001rkd.2_Missense_Mutation_p.G83R|FAM60A_uc010ska.1_Missense_Mutation_p.G83R|FAM60A_uc001rke.2_Missense_Mutation_p.G83R|FAM60A_uc010skb.1_Intron|FAM60A_uc001rkc.2_Missense_Mutation_p.G108R	NM_021238	NP_067061	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	83											0	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					AGACTGGGTCCAGCCCTTGCA	0.368		NaN											0	0	0	0.010729	0	11	71				
MLL2	8085	broad.mit.edu	37	12	49433004	49433004	+	Splice_Site	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:49433004C>A	uc001rta.3	-	33	8366	c.8366_splice	c.e33+1	p.R2789_splice		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2						chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TGGAGCCTCACCGGCTGTTCA	0.562		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			1	0	9.8876e-21	0.004878	1.12191e-20	27	143		Valid		
METTL7A	25840	broad.mit.edu	37	12	51318851	51318851	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:51318851G>C	uc001rxb.2	+	1	318	c.30G>C	c.(28-30)CTG>CTC	p.L10L	METTL7A_uc010smv.1_Silent_p.L10L	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN	methyltransferase like 7A precursor	10	Targeting to lipid droplets.					endoplasmic reticulum|lipid particle|membrane	methyltransferase activity				0						TCCTGAGACTGGCCATTTACA	0.453		NaN											0	0	0	0.012213	0	26	144				
SLC4A8	9498	broad.mit.edu	37	12	51865155	51865155	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:51865155T>C	uc001rys.1	+	14	1921	c.1743T>C	c.(1741-1743)GAT>GAC	p.D581D	SLC4A8_uc010sni.1_Silent_p.D528D|SLC4A8_uc001rym.2_Silent_p.D528D|SLC4A8_uc001ryn.2_Silent_p.D528D|SLC4A8_uc001ryo.2_Silent_p.D528D|SLC4A8_uc010snj.1_Silent_p.D608D|SLC4A8_uc001ryq.3_Silent_p.D581D|SLC4A8_uc001ryr.2_Silent_p.D581D|SLC4A8_uc010snk.1_Silent_p.D528D	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	581	Helical; (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGGCAACTGATGCCAGTTCCC	0.428		NaN											0	0	0	0.003271	0	31	146				
SP1	6667	broad.mit.edu	37	12	53775912	53775912	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:53775912T>G	uc001scw.2	+	3	278	c.181T>G	c.(181-183)TTG>GTG	p.L61V	SP1_uc010sog.1_Missense_Mutation_p.L54V	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	61	Ser/Thr-rich.|Repressor domain.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GCCATCCCCTTTGGCTCTGCT	0.542		NaN									OREG0021870	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.007413	0	16	75				
HNRNPA1	3178	broad.mit.edu	37	12	54675607	54675607	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:54675607C>G	uc001sfl.2	+	3	265	c.161C>G	c.(160-162)TCC>TGC	p.S54C	CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.S54C|HNRNPA1_uc009zng.2_Missense_Mutation_p.S54C|HNRNPA1_uc009znh.2_Missense_Mutation_p.S54C|HNRNPA1_uc009zni.2_Missense_Mutation_p.S54C|HNRNPA1_uc001sfn.2_Missense_Mutation_p.S54C|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_Missense_Mutation_p.S9C|HNRNPA1_uc009znj.1_Missense_Mutation_p.S9C	NM_031157	NP_112420	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	54	Globular A domain.|RRM 1.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			skin(2)|ovary(1)	3						ACCAAGCGCTCCAGGGGCTTT	0.448		NaN											0	0	0	0.004482	0	7	30				
INHBE	83729	broad.mit.edu	37	12	57850077	57850077	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:57850077G>A	uc001snw.2	+	2	723	c.499G>A	c.(499-501)GGC>AGC	p.G167S		NM_031479	NP_113667	P58166	INHBE_HUMAN	activin beta E precursor	167					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)	3						CACCAACCTGGGCTGGCATAC	0.577		NaN									OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	87	336				
TMEM5	10329	broad.mit.edu	37	12	64195998	64195998	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:64195998A>C	uc001srq.1	+	4	660	c.556A>C	c.(556-558)AAT>CAT	p.N186H	TMEM5_uc001srr.1_Missense_Mutation_p.N83H|TMEM5_uc001srs.1_5'UTR	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	186	Extracellular (Potential).					integral to plasma membrane					0		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		TTATGCACAAAATTTAGTGCA	0.363		NaN											0	0	0	0.009096	0	4	62				
IRAK3	11213	broad.mit.edu	37	12	66605244	66605244	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:66605244C>G	uc001sth.2	+	5	557	c.455C>G	c.(454-456)TCC>TGC	p.S152C	IRAK3_uc010ssy.1_Missense_Mutation_p.S91C	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	152					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8				GBM - Glioblastoma multiforme(28;0.0203)		CTTAAATCTTCCATCAGCTTT	0.338		NaN											0	0	0	0.001168	0	6	47				
PTPRR	5801	broad.mit.edu	37	12	71139613	71139613	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:71139613A>G	uc001swi.1	-	6	1408	c.992T>C	c.(991-993)ATA>ACA	p.I331T	PTPRR_uc001swh.1_Missense_Mutation_p.I86T|PTPRR_uc009zrs.2_Missense_Mutation_p.I180T|PTPRR_uc010stq.1_Missense_Mutation_p.I219T|PTPRR_uc010str.1_Missense_Mutation_p.I180T	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	331	Cytoplasmic (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TTGAAGTCCTATGGGCTTCAT	0.423		NaN											0	0	0	0.001168	0	5	49				
TRHDE	29953	broad.mit.edu	37	12	72667281	72667281	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:72667281C>G	uc001sxa.2	+	1	753	c.723C>G	c.(721-723)ATC>ATG	p.I241M	LOC283392_uc010stv.1_5'UTR	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	241	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						ACGCGCTCATCGAGAATGAGC	0.587		NaN											0	0	0	0.014323	0	20	101				
GLIPR1L2	144321	broad.mit.edu	37	12	75784898	75784898	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:75784898T>C	uc001sxr.1	+	1	10	c.2T>C	c.(1-3)ATG>ACG	p.M1T	CAPS2_uc001sxm.3_5'Flank|CAPS2_uc009zsa.2_5'Flank|GLIPR1L2_uc001sxp.1_Missense_Mutation_p.M1T|GLIPR1L2_uc001sxq.1_5'UTR	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	1						integral to membrane				ovary(1)	1						CGGTGGACCATGGAGGCCGCA	0.682		NaN									OREG0021999	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009096	0	3	21				
LRRIQ1	84125	broad.mit.edu	37	12	85459088	85459088	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:85459088C>T	uc001tac.2	+	9	2551	c.2440C>T	c.(2440-2442)CTG>TTG	p.L814L	LRRIQ1_uc001tab.1_Silent_p.L814L	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	814										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		TCTCTCCACACTGGCAGAGTG	0.383		NaN											0	0	0	0.003954	0	22	114				
USP44	84101	broad.mit.edu	37	12	95926706	95926706	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:95926706C>T	uc001teg.2	-	2	1471	c.1327G>A	c.(1327-1329)GGT>AGT	p.G443S	USP44_uc001teh.2_Missense_Mutation_p.G443S|USP44_uc009zte.2_Missense_Mutation_p.G440S	NM_001042403	NP_001035862	Q9H0E7	UBP44_HUMAN	ubiquitin thiolesterase 44	443					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)|breast(1)|central_nervous_system(1)	3						AAACTGGTACCAGTTGTCTCT	0.388		NaN											0	0	0	0.010729	0	10	54				
HAL	3034	broad.mit.edu	37	12	96370219	96370219	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:96370219G>A	uc001tem.1	-	20	2118	c.1821C>T	c.(1819-1821)CTC>CTT	p.L607L	HAL_uc009zti.1_RNA|HAL_uc010suw.1_Silent_p.L399L|HAL_uc010sux.1_Intron	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase	607					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)|skin(1)	3					L-Histidine(DB00117)	TCTGCTCCAGGAGCAGCCTGT	0.507		NaN											0	0	0	0.00278	0	19	96				
APAF1	317	broad.mit.edu	37	12	99076995	99076995	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:99076995C>T	uc001tfz.2	+	15	2698	c.2121C>T	c.(2119-2121)TTC>TTT	p.F707F	APAF1_uc001tfy.2_Silent_p.F696F|APAF1_uc001tga.2_Silent_p.F696F|APAF1_uc001tgb.2_Silent_p.F707F|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Silent_p.F116F	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	707	WD 3.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	GCTGCCATTTCACCAACAGTA	0.383		NaN											0	0	0	0.014323	0	19	183				
C12orf48	55010	broad.mit.edu	37	12	102589201	102589201	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:102589201C>T	uc001tjf.2	+	10	1487	c.1375C>T	c.(1375-1377)CTT>TTT	p.L459F	C12orf48_uc001tjg.2_Missense_Mutation_p.L378F|C12orf48_uc010swa.1_Missense_Mutation_p.L536F|C12orf48_uc001tjh.2_Missense_Mutation_p.L378F|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Missense_Mutation_p.L174F|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN	hypothetical protein LOC55010	459					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding				0						TTTGTGTGTTCTTTACATGGA	0.264		NaN											0	0	0	0.006122	0	15	142				
NOS1	4842	broad.mit.edu	37	12	117696896	117696896	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:117696896G>C	uc001twm.1	-	15	3093	c.2407C>G	c.(2407-2409)CAT>GAT	p.H803D	NOS1_uc001twn.1_5'Flank	NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	803	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGAGTTTCATGTTCCAGGTGC	0.408		NaN											0	0	0	0.010729	0	9	102				
COX6A1	1337	broad.mit.edu	37	12	120875952	120875952	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:120875952C>T	uc001tyf.1	+	1	49	c.23C>T	c.(22-24)TCG>TTG	p.S8L		NM_004373	NP_004364	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	8					respiratory electron transport chain	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTGTGTCCTCGGTTTCTCGG	0.637		NaN											0	0	0	0.00308	0	6	32				
C12orf43	64897	broad.mit.edu	37	12	121454163	121454163	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:121454163G>A	uc001tzh.1	-	1	138	c.115C>T	c.(115-117)CGC>TGC	p.R39C	C12orf43_uc009zxa.1_Missense_Mutation_p.R39C|C12orf43_uc010szo.1_Translation_Start_Site|C12orf43_uc010szp.1_Missense_Mutation_p.R39C|C12orf43_uc001tzi.1_Missense_Mutation_p.R39C	NM_022895	NP_075046	Q96C57	CL043_HUMAN	hypothetical protein LOC64897	39											0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACGTGCGGGCGTTGCTCCAAG	0.627		NaN											0	0	0	0.008291	0	10	50				
KNTC1	9735	broad.mit.edu	37	12	123087591	123087591	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:123087591G>A	uc001ucv.2	+	48	5065	c.4902G>A	c.(4900-4902)CTG>CTA	p.L1634L	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1634					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGGACACTCTGTACGTGTCTA	0.363		NaN											0	0	0	0.004672	0	3	24				
UFM1	51569	broad.mit.edu	37	13	38924164	38924164	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:38924164A>T	uc001uwu.2	+	2	146	c.31A>T	c.(31-33)ACG>TCG	p.T11S	UFM1_uc010abz.2_Missense_Mutation_p.T11S|UFM1_uc010aca.2_Missense_Mutation_p.T11S	NM_016617	NP_057701	P61960	UFM1_HUMAN	ubiquitin-fold modifier 1 precursor	11					protein ufmylation	cytoplasm|nucleus	protein binding				0		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		GATCACGCTGACGTCGGACCC	0.582		NaN											0	0	0	0.010504	0	19	126				
FREM2	341640	broad.mit.edu	37	13	39446912	39446912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:39446912C>T	uc001uwv.2	+	17	8326	c.8017C>T	c.(8017-8019)CGA>TGA	p.R2673*		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2673	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGTGACCCTTCGAGTCCCTCT	0.438		NaN											0	0	0	0.003954	0	21	91				
AKAP11	11215	broad.mit.edu	37	13	42876351	42876351	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:42876351A>G	uc001uys.1	+	8	3644	c.3469A>G	c.(3469-3471)ATA>GTA	p.I1157V		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1157					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ACAAAATACTATAGAAAAAGA	0.423		NaN											0	0	0	0.000602	0	5	115				
RCBTB2	1102	broad.mit.edu	37	13	49064303	49064303	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:49064303C>T	uc001vch.2	-	15	1971	c.1600G>A	c.(1600-1602)GAT>AAT	p.D534N	RCBTB2_uc001vcg.2_RNA|RCBTB2_uc010tgg.1_Missense_Mutation_p.D539N|RCBTB2_uc001vci.2_Missense_Mutation_p.D510N|RCBTB2_uc010tgh.1_Missense_Mutation_p.D260N|RCBTB2_uc001vcj.2_Missense_Mutation_p.D486N	NM_001268	NP_001259	O95199	RCBT2_HUMAN	regulator of chromosome condensation and BTB	534							Ran guanyl-nucleotide exchange factor activity			ovary(2)|lung(2)|skin(1)	5		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TTCAGGAGATCATGGTCCATT	0.398		NaN											0	0	0	0.006214	0	7	106				
KLHL1	57626	broad.mit.edu	37	13	70535552	70535552	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:70535552G>T	uc001vip.2	-	3	1499	c.705C>A	c.(703-705)GAC>GAA	p.D235E	KLHL1_uc010thm.1_Missense_Mutation_p.D174E	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	235	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCGCAAAATAGTCGGAGACTG	0.443		NaN											1	0	6.40141e-05	0.010729	6.60463e-05	10	58				
C13orf34	79866	broad.mit.edu	37	13	73305498	73305498	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:73305498G>C	uc001viv.1	+	3	352	c.233G>C	c.(232-234)CGT>CCT	p.R78P	C13orf34_uc010thq.1_5'UTR|C13orf34_uc010aen.1_Missense_Mutation_p.R153P|C13orf34_uc010thr.1_Intron|C13orf34_uc001viw.1_Intron	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	78					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding				0		Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.000227)		GATATTCATCGTCAAGCTTTA	0.353		NaN											0	0	0	0.001984	0	5	95				
LMO7	4008	broad.mit.edu	37	13	76397778	76397778	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:76397778A>G	uc001vjv.2	+	12	2779	c.2019A>G	c.(2017-2019)GCA>GCG	p.A673A	LMO7_uc010thv.1_Silent_p.A624A|LMO7_uc001vjt.1_Silent_p.A572A|LMO7_uc010thw.1_Silent_p.A523A|LMO7_uc001vjw.1_Silent_p.A579A	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	958						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GCACCCCTGCACCAAGCCCGG	0.453		NaN											0	0	0	0.00278	0	23	87				
EDNRB	1910	broad.mit.edu	37	13	78477304	78477304	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:78477304G>A	uc001vko.2	-	3	1046	c.788C>T	c.(787-789)ACA>ATA	p.T263I	EDNRB_uc001vkq.1_Missense_Mutation_p.T263I|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.T263I|EDNRB_uc001vkp.1_Missense_Mutation_p.T346I	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	263	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CATGAAAGCTGTCTTCTGAAC	0.403		NaN											0	0	0	0.006122	0	13	83				
CLYBL	171425	broad.mit.edu	37	13	100425084	100425084	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:100425084G>A	uc001vok.2	+	2	83	c.69G>A	c.(67-69)GCG>GCA	p.A23A	CLYBL_uc010tix.1_Silent_p.A23A|CLYBL_uc010tiy.1_Silent_p.A23A	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like precursor	23					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAGGAAAGCGTCTCTAGCAG	0.393		NaN											0	0	0	0.005524	0	33	174				
TNFSF13B	10673	broad.mit.edu	37	13	108922324	108922325	+	Missense_Mutation	DNP	TG	TG	GA			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:108922324_108922325TG>GA	uc001vqr.2	+	1	348_349	c.81_82TG>GA	c.(79-84)TGTGTT>TGGATT	p.27_28CV>WI	TNFSF13B_uc010agj.2_Missense_Mutation_p.27_28CV>WI	NM_006573	NP_006564	Q9Y275	TN13B_HUMAN	tumor necrosis factor superfamily, member 13b	27_28	Cytoplasmic (Potential).				cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding				0	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			TGAAGGAGTGTGTTTCCATCCT	0.495		NaN											0	0	0	0.004672	0	12	219				
MYO16	23026	broad.mit.edu	37	13	109672259	109672259	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:109672259G>A	uc001vqt.1	+	23	2856	c.2730G>A	c.(2728-2730)AGG>AGA	p.R910R	MYO16_uc010agk.1_Silent_p.R932R|MYO16_uc001vqu.1_Silent_p.R710R|MYO16_uc010tjh.1_Silent_p.R422R	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	910	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACGCAGGAAGGGTAAGTGGCC	0.448		NaN											0	0	0	0.010729	0	10	65				
CHD8	57680	broad.mit.edu	37	14	21870182	21870182	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:21870182C>T	uc001was.1	-	20	3253	c.3159G>A	c.(3157-3159)CAG>CAA	p.Q1053Q	CHD8_uc001war.1_Silent_p.Q949Q|CHD8_uc001wav.1_Silent_p.Q495Q	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1332					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTAACAAGATCTGGTCAATGT	0.413		NaN											0	0	0	0.001855	0	12	156				
CHD8	57680	broad.mit.edu	37	14	21870572	21870572	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:21870572C>G	uc001was.1	-	19	3062	c.2968G>C	c.(2968-2970)GAT>CAT	p.D990H	CHD8_uc001war.1_Missense_Mutation_p.D886H|CHD8_uc001wav.1_Missense_Mutation_p.D432H	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1269	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTGGCCTTATCAAACATCTCT	0.483		NaN											0	0	0	0.001984	0	6	116				
DCAF11	80344	broad.mit.edu	37	14	24588376	24588376	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:24588376G>C	uc001wlv.2	+	9	1082	c.802G>C	c.(802-804)GTC>CTC	p.V268L	DCAF11_uc001wlw.2_Missense_Mutation_p.V268L|DCAF11_uc001wlz.2_Missense_Mutation_p.V168L|DCAF11_uc001wly.2_Missense_Mutation_p.V224L|DCAF11_uc001wme.2_Missense_Mutation_p.V228L|DCAF11_uc010tny.1_Missense_Mutation_p.V135L|DCAF11_uc001wmd.2_Missense_Mutation_p.V268L|DCAF11_uc001wmc.2_Missense_Mutation_p.V168L|DCAF11_uc001wmb.3_Missense_Mutation_p.V242L|DCAF11_uc001wma.3_Missense_Mutation_p.V268L	NM_001163484	NP_001156956	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11 isoform 1	268	WD 3.					CUL4 RING ubiquitin ligase complex	protein binding				0						TCGCTTTGCTGTCTTCTCCAT	0.463		NaN											0	0	0	0.00278	0	17	155				
MAPK1IP1L	93487	broad.mit.edu	37	14	55529993	55529993	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:55529993C>T	uc001xbq.1	+	3	840	c.676C>T	c.(676-678)CAA>TAA	p.Q226*		NM_144578	NP_653179	Q8NDC0	MISSL_HUMAN	MAPK-interacting and spindle-stabilizing	226	Pro-rich.										0						TAATCCTTTCCAAGTGCCTTC	0.512		NaN											0	0	0	0.006214	0	9	102				
KCNH5	27133	broad.mit.edu	37	14	63174336	63174336	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:63174336G>C	uc001xfx.2	-	11	2908	c.2857C>G	c.(2857-2859)CCC>GCC	p.P953A	KCNH5_uc001xfy.2_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	953	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGGGATTTGGGAGATGAGGCC	0.463		NaN											0	0	0	0.010504	0	19	211				
KCNH5	27133	broad.mit.edu	37	14	63174651	63174651	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:63174651C>G	uc001xfx.2	-	11	2593	c.2542G>C	c.(2542-2544)GAT>CAT	p.D848H	KCNH5_uc001xfy.2_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	848	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTCTCTGAATCACTGCTCTTG	0.438		NaN											0	0	0	0.003163	0	12	117				
FUT8	2530	broad.mit.edu	37	14	66208906	66208906	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:66208906G>C	uc001xin.2	+	11	2703	c.1506G>C	c.(1504-1506)CAG>CAC	p.Q502H	FUT8_uc001xio.2_Missense_Mutation_p.Q502H|FUT8_uc010tsp.1_Missense_Mutation_p.Q339H|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.Q502H|FUT8_uc001xiq.2_Missense_Mutation_p.Q373H|FUT8_uc001xis.2_Missense_Mutation_p.Q96H	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 isoform a	502	SH3.|Lumenal (Potential).				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TTGGGGGCCAGAATGCCCACA	0.433		NaN											0	0	0	0.004482	0	8	172				
PLEKHH1	57475	broad.mit.edu	37	14	68040539	68040539	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:68040539C>T	uc001xjl.1	+	13	2003	c.1861C>T	c.(1861-1863)CAA>TAA	p.Q621*	PLEKHH1_uc010tsw.1_Nonsense_Mutation_p.Q189*|PLEKHH1_uc001xjm.1_Nonsense_Mutation_p.Q136*|PLEKHH1_uc001xjn.1_Nonsense_Mutation_p.Q136*	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	621	PH 1.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CCGGAAACCTCAAGGCCAAGT	0.502		NaN											0	0	0	0.006214	0	7	131				
PLEKHH1	57475	broad.mit.edu	37	14	68040602	68040602	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:68040602C>G	uc001xjl.1	+	13	2066	c.1924C>G	c.(1924-1926)CAG>GAG	p.Q642E	PLEKHH1_uc010tsw.1_Missense_Mutation_p.Q210E|PLEKHH1_uc001xjm.1_Missense_Mutation_p.Q157E|PLEKHH1_uc001xjn.1_Missense_Mutation_p.Q157E	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	642	PH 1.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ACAGACGTTTCAGGTGAGCAC	0.488		NaN											0	0	0	0.004482	0	7	93				
ANGEL1	23357	broad.mit.edu	37	14	77255678	77255678	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:77255678G>A	uc001xsv.2	-	10	2019	c.1906C>T	c.(1906-1908)CTC>TTC	p.L636F	uc001xsu.1_5'Flank|ANGEL1_uc010tvf.1_Intron	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	angel homolog 1	636										ovary(2)|central_nervous_system(1)|skin(1)	4			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TCTTCAGAGAGAAGGGAGAGA	0.562		NaN											0	0	0	0.007413	0	14	169				
STON2	85439	broad.mit.edu	37	14	81743987	81743987	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:81743987T>C	uc010tvu.1	-	4	1869	c.1668A>G	c.(1666-1668)TCA>TCG	p.S556S	STON2_uc001xvk.1_Silent_p.S556S|STON2_uc010tvt.1_Silent_p.S353S	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	556	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TCAAGTCCATTGACAACACTG	0.478		NaN											0	0	0	0.001168	0	6	43				
SEL1L	6400	broad.mit.edu	37	14	81950697	81950697	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:81950697C>A	uc010tvv.1	-	19	2035	c.1918G>T	c.(1918-1920)GGG>TGG	p.G640W		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	640	Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Sel1-like 10.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GTGCCAAACCCATAGAAATGG	0.368		NaN											1	0	2.4624e-09	0.008871	2.65495e-09	18	161				
SPATA7	55812	broad.mit.edu	37	14	88883148	88883148	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:88883148A>G	uc001xwq.2	+	5	483	c.332A>G	c.(331-333)TAT>TGT	p.Y111C	SPATA7_uc001xwr.2_Missense_Mutation_p.Y79C|SPATA7_uc001xws.2_Missense_Mutation_p.Y47C|SPATA7_uc001xwt.2_Missense_Mutation_p.Y5C	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	spermatogenesis-associated protein 7 isoform a	111					response to stimulus|visual perception					ovary(1)	1						CGAGCCAATTATAAAAATAAT	0.294		NaN											0	0	0	0.004482	0	7	76				
ZC3H14	79882	broad.mit.edu	37	14	89044449	89044449	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:89044449A>G	uc001xww.2	+	9	1469	c.1244A>G	c.(1243-1245)GAG>GGG	p.E415G	ZC3H14_uc010twd.1_Missense_Mutation_p.E415G|ZC3H14_uc010twe.1_Missense_Mutation_p.E415G|ZC3H14_uc001xwx.2_Missense_Mutation_p.E415G|ZC3H14_uc010twf.1_Missense_Mutation_p.E260G|ZC3H14_uc001xwy.2_Missense_Mutation_p.E381G|ZC3H14_uc010twg.1_Missense_Mutation_p.E260G|ZC3H14_uc001xxa.2_5'UTR	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14 isoform 1	415						cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			ovary(2)|skin(1)	3						ATTAAAGAAGAGGAAACAAAA	0.388		NaN											0	0	0	0.00308	0	6	107				
PAPOLA	10914	broad.mit.edu	37	14	96998956	96998956	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:96998956T>C	uc001yfq.2	+	9	1016	c.806T>C	c.(805-807)GTA>GCA	p.V269A	PAPOLA_uc001yfp.2_Missense_Mutation_p.V269A|PAPOLA_uc001yfr.2_Missense_Mutation_p.V269A|PAPOLA_uc010twv.1_Missense_Mutation_p.V269A|PAPOLA_uc010avp.2_Missense_Mutation_p.V19A	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	269					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TCAACTCTTGTACATAAATTT	0.313		NaN											0	0	0	0.001984	0	5	61				
TECPR2	9895	broad.mit.edu	37	14	102904529	102904529	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:102904529A>G	uc001ylw.1	+	10	2713	c.2565A>G	c.(2563-2565)GCA>GCG	p.A855A	TECPR2_uc010awl.2_Silent_p.A855A|TECPR2_uc010txx.1_Silent_p.A18A	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	855							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						AGCAGGTGGCAGTCTCGCCCT	0.438		NaN									OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004482	0	9	54				
AMN	81693	broad.mit.edu	37	14	103390133	103390133	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:103390133C>A	uc001ymg.3	+	2	162	c.129C>A	c.(127-129)TGC>TGA	p.C43*	AMN_uc001ymh.3_5'UTR	NM_030943	NP_112205	Q9BXJ7	AMNLS_HUMAN	amnionless protein precursor	43	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane					0				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGACCCCGTGCGCCGGCGGCG	0.716		NaN											1	0	2.17888e-05	0.006214	2.25829e-05	10	48				
CYFIP1	23191	broad.mit.edu	37	15	23003016	23003016	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:23003016C>G	uc001yus.2	+	31	3842	c.3738C>G	c.(3736-3738)ATC>ATG	p.I1246M	CYFIP1_uc001yut.2_Missense_Mutation_p.I1246M|CYFIP1_uc001yuu.2_Missense_Mutation_p.I815M|CYFIP1_uc001yuv.2_Missense_Mutation_p.I440M	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	1246					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGCCGCCCATCCACCAGTCCC	0.552		NaN											0	0	0	0.000602	0	5	38				
C15orf55	256646	broad.mit.edu	37	15	34640674	34640674	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:34640674C>T	uc001zif.2	+	2	676	c.521C>T	c.(520-522)CCC>CTC	p.P174L	C15orf55_uc010ucc.1_Missense_Mutation_p.P202L|C15orf55_uc010ucd.1_Missense_Mutation_p.P192L	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	174	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CCCATTGTGCCCCTGGAAAAA	0.597		NaN	T	BRD3|BRD4	lethal midline carcinoma								0	0	0	0.004672	0	3	26				
ZNF770	54989	broad.mit.edu	37	15	35275416	35275416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:35275416G>A	uc001ziw.2	-	3	531	c.220C>T	c.(220-222)CAA>TAA	p.Q74*		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	74	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TGAGTTAGTTGATGCCTCTCC	0.358		NaN											0	0	0	0.003163	0	12	84				
CASC5	57082	broad.mit.edu	37	15	40917631	40917631	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:40917631C>T	uc010bbs.1	+	11	5408	c.5247C>T	c.(5245-5247)ATC>ATT	p.I1749I	CASC5_uc010ucq.1_Silent_p.I1573I|CASC5_uc001zme.2_Silent_p.I1723I|CASC5_uc010bbt.1_Silent_p.I1723I	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	1749					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTGATGAGATCAATTCTTCAG	0.343		NaN											0	0	0	0.004007	0	15	114				
INO80	54617	broad.mit.edu	37	15	41347486	41347486	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:41347486T>A	uc001zni.2	-	18	2360	c.2147A>T	c.(2146-2148)GAC>GTC	p.D716V	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	716	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						GCTCTCAATGTCCTTGGAAAA	0.378		NaN											0	0	0	0.00499	0	16	76				
EXD1	161829	broad.mit.edu	37	15	41482170	41482170	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:41482170G>T	uc001znk.2	-	9	1038	c.847C>A	c.(847-849)CGC>AGC	p.R283S	EXD1_uc001znj.2_Missense_Mutation_p.R81S|EXD1_uc010ucv.1_Missense_Mutation_p.R341S	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	283					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			ovary(1)	1						GACCCTTCGCGATACGTGTTT	0.547		NaN											1	0	2.17888e-05	0.006214	2.25829e-05	7	132				
SPTBN5	51332	broad.mit.edu	37	15	42171661	42171661	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:42171661G>C	uc001zos.2	-	16	3207	c.2874C>G	c.(2872-2874)GCC>GCG	p.A958A		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	993	Spectrin 7.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCAGCTGCACGGCCTTCTCCC	0.632		NaN											0	0	0	0.009096	0	4	6				
FBN1	2200	broad.mit.edu	37	15	48725087	48725087	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:48725087T>C	uc001zwx.1	-	55	7043	c.6715A>G	c.(6715-6717)AGA>GGA	p.R2239G	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2239	EGF-like 38; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGGTCTTCTCTGAGCACATAT	0.468		NaN											0	0	0	0.007835	0	30	171				
FBN1	2200	broad.mit.edu	37	15	48773879	48773879	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:48773879C>G	uc001zwx.1	-	32	4265	c.3937G>C	c.(3937-3939)GGC>CGC	p.G1313R		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1313	EGF-like 21; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCTTTTTTGCCGGAGTAGCCC	0.373		NaN											0	0	0	0.00499	0	14	137				
CYP19A1	1588	broad.mit.edu	37	15	51514603	51514603	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:51514603G>A	uc001zyz.3	-	6	822	c.571C>T	c.(571-573)CTG>TTG	p.L191L	CYP19A1_uc001zza.3_Silent_p.L191L|CYP19A1_uc001zzb.2_Silent_p.L191L|CYP19A1_uc001zzd.2_Silent_p.L191L|CYP19A1_uc010bey.1_Silent_p.L191L	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	191					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	ACACGACGCAGAAGGGTCAAC	0.488		NaN											0	0	0	0.006214	0	8	96				
DMXL2	23312	broad.mit.edu	37	15	51792343	51792343	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:51792343G>C	uc002abf.2	-	18	3303	c.3078C>G	c.(3076-3078)TTC>TTG	p.F1026L	DMXL2_uc010ufy.1_Missense_Mutation_p.F1026L|DMXL2_uc010bfa.2_Intron	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1026	WD 8.					cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		AACATTTCCAGAAGCGTACTT	0.363		NaN											0	0	0	0.001168	0	5	108				
LIPC	3990	broad.mit.edu	37	15	58855759	58855759	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:58855759G>C	uc010bga.1	+	10	1833	c.1225G>C	c.(1225-1227)GAT>CAT	p.D409H	LIPC_uc010bfz.1_Missense_Mutation_p.D409H|LIPC_uc002afa.1_Missense_Mutation_p.D409H|LIPC_uc010bgb.1_Missense_Mutation_p.D307H|LIPC_uc010ugy.1_Missense_Mutation_p.D348H	NM_000236	NP_000227	P11150	LIPC_HUMAN	lipase C precursor	409	PLAT.		D -> A.		cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			ovary(1)	1		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GCTGGATGTGGATATCGGCGA	0.453		NaN											0	0	0	0.006214	0	9	176				
VPS13C	54832	broad.mit.edu	37	15	62167121	62167121	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:62167121T>C	uc002agz.2	-	77	10442	c.10368A>G	c.(10366-10368)GCA>GCG	p.A3456A	VPS13C_uc002aha.2_Silent_p.A3413A|VPS13C_uc002ahb.1_Silent_p.A3456A|VPS13C_uc002ahc.1_Silent_p.A3413A	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3456					protein localization					ovary(2)	2						CTAACCCCTCTGCAAATTCTT	0.294		NaN											0	0	0	0.01441	0	45	220				
TLN2	83660	broad.mit.edu	37	15	63032843	63032843	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:63032843G>C	uc002alb.3	+	29	3900	c.3900G>C	c.(3898-3900)CAG>CAC	p.Q1300H	TLN2_uc002alc.3_5'UTR	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1300					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						AAGAAGACCAGATCCAAGTGA	0.502		NaN											0	0	0	0.010504	0	21	101				
DENND4A	10260	broad.mit.edu	37	15	66021464	66021464	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:66021464T>C	uc002aph.2	-	11	1811	c.1433A>G	c.(1432-1434)TAT>TGT	p.Y478C	DENND4A_uc002api.2_Missense_Mutation_p.Y478C|DENND4A_uc002apj.3_Missense_Mutation_p.Y478C|DENND4A_uc010ujj.1_Missense_Mutation_p.Y478C	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	478	DENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TGGAGGATCATAGAGATCAAA	0.393		NaN											0	0	0	0.00308	0	5	19				
RAB11A	8766	broad.mit.edu	37	15	66172008	66172008	+	Splice_Site	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:66172008G>A	uc002apk.2	+	4	559	c.431_splice	c.e4-1	p.E144_splice	RAB11A_uc010ujk.1_Splice_Site_p.E144_splice	NM_004663	NP_004654	P62491	RB11A_HUMAN	Ras-related protein Rab-11A						cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding				0						TCTCCCCTCAGAAAAGAATGG	0.338		NaN											0	0	0	0.008291	0	10	155				
ACSBG1	23205	broad.mit.edu	37	15	78475048	78475048	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:78475048G>A	uc002bdh.2	-	6	799	c.743C>T	c.(742-744)ACG>ATG	p.T248M	ACSBG1_uc010umw.1_Missense_Mutation_p.T244M|ACSBG1_uc010umx.1_Missense_Mutation_p.T6M|ACSBG1_uc010umy.1_Missense_Mutation_p.T141M	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	lipidosin	248					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			ovary(1)	1						TGCCCATACCGTGTACACATT	0.537		NaN											0	0	0	0.004289	0	27	161				
FAM154B	283726	broad.mit.edu	37	15	82575106	82575106	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:82575106T>C	uc002bgv.2	+	3	969	c.900T>C	c.(898-900)ATT>ATC	p.I300I	FAM154B_uc010unr.1_Silent_p.I285I|FAM154B_uc010uns.1_RNA	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	hypothetical protein LOC283726	300										skin(2)	2						AAGGACTTATTAAGAAGCAGC	0.398		NaN											0	0	0	0.014323	0	16	74				
ADAMTSL3	57188	broad.mit.edu	37	15	84651116	84651116	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:84651116G>T	uc002bjz.3	+	21	2960	c.2736G>T	c.(2734-2736)AAG>AAT	p.K912N	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.K912N|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.K912N	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	912	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGAAGAGAAGCGTATTAACC	0.468		NaN											1	0	0.000157383	0.00308	0.000161646	8	99				
ADAMTSL3	57188	broad.mit.edu	37	15	84651605	84651605	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:84651605G>A	uc002bjz.3	+	21	3449	c.3225G>A	c.(3223-3225)TTG>TTA	p.L1075L	ADAMTSL3_uc010bmt.1_Silent_p.L1075L|ADAMTSL3_uc010bmu.1_Silent_p.L1075L	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1075						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTGGGAGTTGAAGAATAAGC	0.443		NaN											0	0	0	0.001168	0	6	72				
AGBL1	123624	broad.mit.edu	37	15	86702233	86702233	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:86702233C>A	uc002blz.1	+	4	406	c.326C>A	c.(325-327)ACC>AAC	p.T109N		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	109					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						ACTCCTTACACCCGAAAGCGC	0.438		NaN											1	0	5.61819e-17	0.005443	6.28078e-17	18	117				
NTRK3	4916	broad.mit.edu	37	15	88679230	88679230	+	Silent	SNP	C	C	G	rs141317844	by1000genomes	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:88679230C>G	uc002bme.1	-	8	969	c.807G>C	c.(805-807)ACG>ACC	p.T269T	NTRK3_uc002bmh.2_Silent_p.T269T|NTRK3_uc002bmf.1_Silent_p.T269T|NTRK3_uc010upl.1_Silent_p.T171T|NTRK3_uc010bnh.1_Silent_p.T269T|NTRK3_uc002bmg.2_Silent_p.T269T	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	269	Ig-like C2-type 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			CATTCACCAGCGTCAAGTTGA	0.478		NaN	T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			0	0	0	0.008871	0	16	154				
CRTC3	64784	broad.mit.edu	37	15	91169176	91169176	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:91169176G>A	uc002bpp.2	+	10	1024	c.918G>A	c.(916-918)GTG>GTA	p.V306V	CRTC3_uc002bpo.2_Silent_p.V306V	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	transducer of regulated CREB protein 3 isoform	306					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	salivary_gland(26)|ovary(1)	27	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GGAATAGTGTGAACAACATCC	0.537		NaN	T	MAML2	salivary gland mucoepidermoid								0	0	0	0.00874	0	34	500				
CHD2	1106	broad.mit.edu	37	15	93496669	93496669	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:93496669C>A	uc002bsp.2	+	14	2160	c.1585C>A	c.(1585-1587)CAA>AAA	p.Q529K	CHD2_uc002bso.1_Missense_Mutation_p.Q529K	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	529	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCTGTTCCACCAACACCAGCT	0.443		NaN											1	0	9.86323e-18	0.003954	1.10536e-17	24	108				
ZNF213	7760	broad.mit.edu	37	16	3189016	3189016	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:3189016G>C	uc010uws.1	+	5	1085	c.638G>C	c.(637-639)CGG>CCG	p.R213P	ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Missense_Mutation_p.R213P|ZNF213_uc010uwt.1_Silent_p.P188P	NM_004220	NP_004211	O14771	ZN213_HUMAN	zinc finger protein 213	213	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TATTTCTCCCGGGAAGAATGG	0.617		NaN											0	0	0	0.013537	0	9	170				
ATF7IP2	80063	broad.mit.edu	37	16	10524885	10524885	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:10524885T>G	uc002czu.2	+	3	635	c.408T>G	c.(406-408)GAT>GAG	p.D136E	ATF7IP2_uc002czv.2_Missense_Mutation_p.D136E|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.D136E|ATF7IP2_uc010uyq.1_RNA	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						AGGCAAAAGATTCACTGAACA	0.413		NaN											0	0	0	0.003271	0	27	103				
KIAA0430	9665	broad.mit.edu	37	16	15728731	15728731	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:15728731T>A	uc002ddr.2	-	4	1082	c.889A>T	c.(889-891)AAT>TAT	p.N297Y	KIAA0430_uc002ddq.2_Missense_Mutation_p.N296Y|KIAA0430_uc010uzv.1_Missense_Mutation_p.N296Y|KIAA0430_uc010uzw.1_Missense_Mutation_p.N296Y|KIAA0430_uc010uzx.1_3'UTR	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	296						peroxisome	nucleotide binding|RNA binding				0						GGTTGAGTATTTGGAGGTGGT	0.443		NaN											0	0	0	0.00308	0	7	174				
DNAH3	55567	broad.mit.edu	37	16	20975225	20975225	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:20975225A>G	uc010vbe.1	-	53	9981	c.9981T>C	c.(9979-9981)AAT>AAC	p.N3327N	DNAH3_uc010vbd.1_Silent_p.N762N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3327					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GCATGTAGAGATTTATGAACC	0.488		NaN											0	0	0	0.010729	0	10	127				
CRYM	1428	broad.mit.edu	37	16	21273477	21273477	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:21273477C>G	uc002dik.2	-	6	761	c.676G>C	c.(676-678)GTT>CTT	p.V226L	CRYM_uc010bwq.1_RNA|CRYM_uc002dil.2_Missense_Mutation_p.V184L|CRYM_uc002dim.2_Missense_Mutation_p.V226L	NM_001888	NP_001879	Q14894	CRYM_HUMAN	crystallin, mu isoform 1	226					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity				0				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	CTGGCTCCAACAGCTAAGAGA	0.522		NaN											0	0	0	0.001984	0	5	40				
RABEP2	79874	broad.mit.edu	37	16	28919983	28919983	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:28919983G>A	uc002drq.2	-	8	1240	c.1192C>T	c.(1192-1194)CAG>TAG	p.Q398*	uc010vct.1_Intron|RABEP2_uc010vdf.1_Nonsense_Mutation_p.Q327*|RABEP2_uc010byn.2_Nonsense_Mutation_p.Q366*	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	398	Potential.				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			ovary(1)|breast(1)|skin(1)	3						TGCGAGCCCTGGGGGGCTGAG	0.642		NaN											0	0	0	0.008871	0	19	191				
CD2BP2	10421	broad.mit.edu	37	16	30365608	30365608	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:30365608C>T	uc002dxr.2	-	2	367	c.114G>A	c.(112-114)GGG>GGA	p.G38G	CD2BP2_uc002dxs.2_Silent_p.G38G	NM_006110	NP_006101	O95400	CD2B2_HUMAN	CD2 antigen (cytoplasmic tail) binding protein	38					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			ovary(1)	1						TAAAGCGGCTCCCAGGACCCC	0.537		NaN											0	0	0	0.010818	0	25	362				
RPGRIP1L	23322	broad.mit.edu	37	16	53636095	53636095	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:53636095C>G	uc002ehp.2	-	27	3905	c.3841G>C	c.(3841-3843)GAT>CAT	p.D1281H	RPGRIP1L_uc002eho.3_Missense_Mutation_p.D1201H|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.D1235H|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.D1247H	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	1281					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				GCTCGTGCATCAAAAACTAGG	0.423		NaN											0	0	0	0.00308	0	5	56				
IRX6	79190	broad.mit.edu	37	16	55360337	55360337	+	Silent	SNP	C	C	G	rs139857215	byFrequency	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:55360337C>G	uc002ehy.2	+	2	668	c.135C>G	c.(133-135)CCC>CCG	p.P45P	IRX6_uc002ehx.2_Silent_p.P45P|IRX6_uc010ccb.1_RNA	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	45						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						CCCCAGCGCCCGCTCTCTGCT	0.637		NaN											0	0	0	0.006214	0	7	61				
IRX6	79190	broad.mit.edu	37	16	55362966	55362966	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:55362966C>T	uc002ehy.2	+	5	1609	c.1076C>T	c.(1075-1077)ACA>ATA	p.T359I	IRX6_uc002ehx.2_Missense_Mutation_p.T359I	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	359						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						CACACCGCGACAGCCAGCGCT	0.637		NaN											0	0	0	0.008871	0	14	104				
NLRC5	84166	broad.mit.edu	37	16	57103764	57103764	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:57103764G>T	uc002ekk.1	+	37	4741	c.4516G>T	c.(4516-4518)GTG>TTG	p.V1506L	NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekq.1_Missense_Mutation_p.V48L|NLRC5_uc002ekr.1_Missense_Mutation_p.V393L	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	1506	LRR 16.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				CTCCAGCTGTGTGAGCACCGA	0.637		NaN											1	0	0.000274275	0.004482	0.00028107	5	20				
FAM65A	79567	broad.mit.edu	37	16	67576933	67576933	+	Silent	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:67576933G>T	uc010vjp.1	+	13	2400	c.2304G>T	c.(2302-2304)ACG>ACT	p.T768T	FAM65A_uc010cei.1_Silent_p.T590T|FAM65A_uc002eth.2_Silent_p.T748T|FAM65A_uc010cej.2_Silent_p.T751T|FAM65A_uc002eti.1_Silent_p.T711T|FAM65A_uc010vjq.1_Silent_p.T762T|FAM65A_uc002etj.1_Silent_p.T747T|FAM65A_uc002etk.2_Silent_p.T747T	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	752	Pro-rich.					cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CAGAGTCTACGGTTCAGAGTC	0.622		NaN											1	0	3.4597e-24	0.01441	3.95519e-24	48	187				
SRR	63826	broad.mit.edu	37	17	2221250	2221250	+	Silent	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:2221250A>C	uc002fue.1	+	3	323	c.255A>C	c.(253-255)GGA>GGC	p.G85G	SRR_uc002fui.1_5'UTR|SRR_uc002fuh.1_Silent_p.G85G	NM_021947	NP_068766	Q9GZT4	SRR_HUMAN	serine racemase	85					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity				0		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ACAGCAGTGGAAACCATGGCC	0.468		NaN											0	0	0	0.014323	0	22	104				
PSMB6	5694	broad.mit.edu	37	17	4700748	4700748	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:4700748T>A	uc002fzb.2	+	3	219	c.186T>A	c.(184-186)AAT>AAA	p.N62K		NM_002798	NP_002789	P28072	PSB6_HUMAN	proteasome beta 6 subunit precursor	62					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			ovary(2)	2						ACATCGCCAATCGAGTGACTG	0.552		NaN											0	0	0	0.009535	0	25	130				
NCOR1	9611	broad.mit.edu	37	17	15952254	15952254	+	Nonsense_Mutation	SNP	G	G	C	rs144480346	byFrequency	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:15952254G>C	uc002gpo.2	-	41	6681	c.6441C>G	c.(6439-6441)TAC>TAG	p.Y2147*	NCOR1_uc002gpn.2_Nonsense_Mutation_p.Y2044*|NCOR1_uc002gpl.2_Nonsense_Mutation_p.Y162*|NCOR1_uc002gpm.2_Nonsense_Mutation_p.Y667*|NCOR1_uc010vwb.1_Nonsense_Mutation_p.Y731*|NCOR1_uc010coy.2_Nonsense_Mutation_p.Y1055*|NCOR1_uc010vwc.1_Nonsense_Mutation_p.Y957*	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	2147	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGATGGGCTCGTAGGGCTCCG	0.522		NaN											0	0	0	0.014323	0	18	102		Valid		
MAPK7	5598	broad.mit.edu	37	17	19284405	19284405	+	Silent	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:19284405C>A	uc002gvn.2	+	4	1269	c.883C>A	c.(883-885)CGG>AGG	p.R295R	B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Silent_p.R156R|MAPK7_uc002gvq.2_Silent_p.R295R|MAPK7_uc002gvp.2_Silent_p.R295R	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	295	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TGAGAGGGTGCGGGCCTATAT	0.607		NaN											1	0	4.68919e-08	0.008291	4.99668e-08	8	68				
SLFN12L	342615	broad.mit.edu	37	17	33806548	33806548	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:33806548G>C	uc002hjn.2	-	3	1647	c.768C>G	c.(766-768)TTC>TTG	p.F256L		NM_001145027	NP_001138499			schlafen family member 12-like											ovary(1)	1						TTTCAGTCGAGAAGTTTTTTA	0.343		NaN											0	0	0	0.001168	0	5	65				
RAPGEFL1	51195	broad.mit.edu	37	17	38346912	38346912	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:38346912C>T	uc010cwu.1	+	8	1105	c.615C>T	c.(613-615)ATC>ATT	p.I205I	RAPGEFL1_uc010wfd.1_Silent_p.I141I	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor	411					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CCGAGGAGATCCAGGTCTCCC	0.637		NaN											0	0	0	0.009718	0	40	146				
ITGA2B	3674	broad.mit.edu	37	17	42462686	42462686	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:42462686A>T	uc002igt.1	-	5	624	c.592T>A	c.(592-594)TGT>AGT	p.C198S		NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	198	FG-GAP 3.|Extracellular (Potential).				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CCCGCTTCACAGTAACGCTTG	0.682		NaN											0	0	0	0.009096	0	3	27				
OSBPL7	114881	broad.mit.edu	37	17	45891068	45891068	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:45891068G>A	uc002ilx.1	-	15	1687	c.1484C>T	c.(1483-1485)TCA>TTA	p.S495L	OSBPL7_uc002ilw.1_Missense_Mutation_p.S57L	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	495					lipid transport		lipid binding				0						CACAGGCATTGACACCTTGGA	0.662		NaN											0	0	0	0.00308	0	7	83				
SLC35B1	10237	broad.mit.edu	37	17	47784399	47784399	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:47784399G>T	uc002iph.1	-	2	223	c.136C>A	c.(136-138)CAG>AAG	p.Q46K	SLC35B1_uc002ipi.1_5'UTR|SLC35B1_uc002ipj.1_5'UTR|SLC35B1_uc010wly.1_Missense_Mutation_p.Q46K	NM_005827	NP_005818	P78383	S35B1_HUMAN	solute carrier family 35, member B1	46						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity				0						AACGTCTCCTGCTTGGCTCCT	0.403		NaN											1	0	2.85442e-18	0.010818	3.21475e-18	25	183				
ABCC3	8714	broad.mit.edu	37	17	48752728	48752728	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:48752728G>A	uc002isl.2	+	20	2685	c.2605G>A	c.(2605-2607)GAA>AAA	p.E869K		NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	869	Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TGCAGCGTTGGAAGGTGCAGA	0.522		NaN											0	0	0	0.000602	0	5	84				
EFCAB3	146779	broad.mit.edu	37	17	60470976	60470976	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:60470976C>G	uc002izu.1	+	5	416	c.338C>G	c.(337-339)ACA>AGA	p.T113R	EFCAB3_uc010wpc.1_Missense_Mutation_p.T165R	NM_173503	NP_775774	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3 isoform b	113	EF-hand 2.						calcium ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AAGGTTCTAACAGATAAGAAT	0.408		NaN											0	0	0	0.004656	0	20	83				
DCAF7	10238	broad.mit.edu	37	17	61662585	61662585	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:61662585G>C	uc002jbc.2	+	7	968	c.751G>C	c.(751-753)GAT>CAT	p.D251H	DCAF7_uc002jbb.2_RNA|DCAF7_uc010wpn.1_Missense_Mutation_p.D51H	NM_005828	NP_005819	P61962	DCAF7_HUMAN	WD-repeat protein	251					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			ovary(1)	1						GGTGATTCTAGATGTCCGGGT	0.443		NaN											0	0	0	0.006214	0	7	139				
CD79B	974	broad.mit.edu	37	17	62007656	62007656	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:62007656C>T	uc002jdq.1	-	3	291	c.208G>A	c.(208-210)GCC>ACC	p.A70T	CD79B_uc002jdo.1_Missense_Mutation_p.A44T|CD79B_uc002jdp.1_Missense_Mutation_p.A71T|CD79B_uc002jdr.1_Intron	NM_000626	NP_000617	P40259	CD79B_HUMAN	CD79B antigen isoform 1 precursor	70	Extracellular (Potential).|Ig-like V-type.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity				0						TTGCCGGAGGCGCTGTTCATG	0.572		NaN	Mis|O		DLBCL								0	0	0	0.000602	0	5	58				
PRKCA	5578	broad.mit.edu	37	17	64637500	64637500	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:64637500A>T	uc002jfp.1	+	4	360	c.316A>T	c.(316-318)ATC>TTC	p.I106F	PRKCA_uc002jfo.1_5'UTR	NM_002737	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	106	Phorbol-ester/DAG-type 2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CAAGTTCAAAATCCACACTTA	0.458		NaN											0	0	0	0.01441	0	49	216				
FDXR	2232	broad.mit.edu	37	17	72860379	72860379	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:72860379G>A	uc002jly.2	-	9	980	c.893C>T	c.(892-894)TCG>TTG	p.S298L	FDXR_uc010wri.1_Missense_Mutation_p.S246L|FDXR_uc010wrj.1_Missense_Mutation_p.S296L|FDXR_uc002jlw.2_Missense_Mutation_p.S55L|FDXR_uc002jlx.2_Missense_Mutation_p.S304L|FDXR_uc002jmc.2_Missense_Mutation_p.S270L|FDXR_uc010wrk.1_Missense_Mutation_p.S329L|FDXR_uc010wrl.1_Missense_Mutation_p.S341L|FDXR_uc002jma.2_Missense_Mutation_p.S299L|FDXR_uc010wrm.1_Missense_Mutation_p.S258L|FDXR_uc002jlz.2_Missense_Mutation_p.S290L|FDXR_uc002jmb.2_RNA	NM_024417	NP_077728	P22570	ADRO_HUMAN	ferredoxin reductase isoform 1 precursor	298					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)					ACGGGAGGCCGATGCCTGGCG	0.692		NaN											0	0	0	0.008291	0	10	46				
GGA3	23163	broad.mit.edu	37	17	73239236	73239236	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:73239236A>T	uc002jni.1	-	6	445	c.436T>A	c.(436-438)TCT>ACT	p.S146T	GGA3_uc002jnj.1_Missense_Mutation_p.S113T|GGA3_uc010wrw.1_Missense_Mutation_p.S24T|GGA3_uc002jnk.1_Missense_Mutation_p.S74T|GGA3_uc010wrx.1_Missense_Mutation_p.S24T|GGA3_uc010wry.1_Missense_Mutation_p.S74T|GGA3_uc010wrz.1_Intron	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	146	VHS.|Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GGTGGGTCAGACTGCACTATG	0.542		NaN											0	0	0	0.012319	0	19	151				
SRP68	6730	broad.mit.edu	37	17	74066468	74066468	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:74066468T>C	uc002jqk.1	-	2	277	c.242A>G	c.(241-243)CAG>CGG	p.Q81R	SRP68_uc010wsu.1_Intron|SRP68_uc002jql.1_Missense_Mutation_p.Q81R	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	81					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						CCTGTACCTCTGAAAATCTCC	0.373		NaN											0	0	0	0.003163	0	11	67				
MYOM1	8736	broad.mit.edu	37	18	3187533	3187533	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:3187533C>A	uc002klp.2	-	5	1208	c.874G>T	c.(874-876)GAG>TAG	p.E292*	MYOM1_uc002klq.2_Nonsense_Mutation_p.E292*	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	292	Ig-like C2-type 1.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						TTTACATTCTCCTTCTCCCAA	0.433		NaN											1	0	3.86212e-05	0.008291	3.99378e-05	8	164				
LAMA1	284217	broad.mit.edu	37	18	7044769	7044769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:7044769G>A	uc002knm.2	-	7	1022	c.928C>T	c.(928-930)CAG>TAG	p.Q310*	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	310	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGGGCTGCTGATGGTACCCA	0.478		NaN											0	0	0	0.010818	0	28	176				
TUBB6	84617	broad.mit.edu	37	18	12326037	12326037	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:12326037G>A	uc002kqw.2	+	4	1294	c.1249G>A	c.(1249-1251)GAC>AAC	p.D417N	TUBB6_uc002kqv.2_Missense_Mutation_p.D345N|TUBB6_uc002kqx.2_Missense_Mutation_p.D380N|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	417					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		CAACATGAACGACCTGGTATC	0.557		NaN											0	0	0	0.006214	0	9	201				
MIB1	57534	broad.mit.edu	37	18	19321721	19321721	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:19321721C>T	uc002ktq.2	+	1	177	c.177C>T	c.(175-177)AAC>AAT	p.N59N	MIB1_uc002ktp.2_Intron	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	59	MIB/HERC2 1.				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)			CAGCTGCCAACTACCGCTGCT	0.721		NaN											0	0	0	0.001168	0	6	35				
DSC3	1825	broad.mit.edu	37	18	28581659	28581659	+	Silent	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:28581659C>G	uc002kwj.3	-	14	2315	c.2160G>C	c.(2158-2160)GGG>GGC	p.G720G	DSC3_uc002kwi.3_Silent_p.G720G	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	720	Cytoplasmic (Potential).				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)|skin(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GAAAACGTTTCCCTTTAGTTG	0.284		NaN											0	0	0	0.00278	0	17	115				
DSG3	1830	broad.mit.edu	37	18	29049227	29049227	+	Silent	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:29049227T>G	uc002kws.2	+	12	1921	c.1812T>G	c.(1810-1812)CCT>CCG	p.P604P		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	604	Extracellular (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCACAAGCCCTGGGACCAGGT	0.592		NaN											0	0	0	0.006214	0	7	91				
ATP8B1	5205	broad.mit.edu	37	18	55319836	55319836	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:55319836G>C	uc002lgw.2	-	24	3141	c.3141C>G	c.(3139-3141)CTC>CTG	p.L1047L	uc002lgu.1_Intron|uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	1047	Helical; (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				GTATGAAGAAGAGGATCATCG	0.463		NaN							Byler_disease				0	0	0	0.001984	0	5	89				
VPS4B	9525	broad.mit.edu	37	18	61067362	61067362	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:61067362C>G	uc002lix.2	-	7	969	c.709G>C	c.(709-711)GAT>CAT	p.D237H	VPS4B_uc010dpx.2_Missense_Mutation_p.D237H|VPS4B_uc010dpy.2_Missense_Mutation_p.D119H|VPS4B_uc010dpz.1_Missense_Mutation_p.D119H	NM_004869	NP_004860	O75351	VPS4B_HUMAN	vacuolar protein sorting factor 4B	237					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			ovary(1)	1						CAGAGAGAATCAATTTCATCA	0.343		NaN											0	0	0	0.006122	0	16	118				
PQLC1	80148	broad.mit.edu	37	18	77664069	77664069	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:77664069G>A	uc002lnl.2	-	6	895	c.723C>T	c.(721-723)GAC>GAT	p.D241D	PQLC1_uc010dre.2_Silent_p.D158D|PQLC1_uc002lnk.2_Silent_p.D223D|PQLC1_uc010xfm.1_3'UTR	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1 isoform 1	241	Helical; (Potential).					integral to membrane				large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		GGATGGCCAGGTCCACCAGCA	0.682		NaN											0	0	0	0.001984	0	6	34				
PPAP2C	8612	broad.mit.edu	37	19	281413	281413	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:281413T>C	uc002loi.2	-	6	941	c.842A>G	c.(841-843)TAT>TGT	p.Y281C	PPAP2C_uc002loh.2_Missense_Mutation_p.Y302C|PPAP2C_uc002loj.2_Missense_Mutation_p.Y225C	NM_003712	NP_003703	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C isoform 1	281					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CGGGTATCCATAGTGGTTGTG	0.657		NaN											0	0	0	0.001168	0	5	32				
CNN2	1265	broad.mit.edu	37	19	1032581	1032581	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:1032581C>G	uc002lqu.2	+	4	639	c.276C>G	c.(274-276)ATC>ATG	p.I92M	CNN2_uc002lqt.1_Missense_Mutation_p.I92M|CNN2_uc010drz.1_Intron|CNN2_uc002lqv.2_Missense_Mutation_p.I92M|CNN2_uc010xgb.1_Missense_Mutation_p.I92M|CNN2_uc010xgc.1_Missense_Mutation_p.I92M	NM_004368	NP_004359	Q99439	CNN2_HUMAN	calponin 2 isoform a	92	CH.				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CCAACTTCATCAAGGCCATGG	0.507		NaN											0	0	0	0.001855	0	9	102				
ABCA7	10347	broad.mit.edu	37	19	1058041	1058041	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:1058041G>C	uc002lqw.3	+	36	5239	c.5008G>C	c.(5008-5010)GAG>CAG	p.E1670Q	ABCA7_uc002lqy.2_Missense_Mutation_p.E123Q|ABCA7_uc010dsc.2_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1670					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CTTTGTGCTTGAGCTCTTCTC	0.572		NaN											0	0	0	0.006214	0	8	93				
FAM108A1	81926	broad.mit.edu	37	19	1881473	1881473	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:1881473C>T	uc002lug.2	-	2	499	c.93G>A	c.(91-93)CCG>CCA	p.P31P	FAM108A1_uc002lud.2_Silent_p.P31P|FAM108A1_uc002lue.2_Silent_p.P31P|FAM108A1_uc002luf.2_Silent_p.P31P	NM_001130111	NP_001123583	Q96GS6	F18A1_HUMAN	hypothetical protein LOC81926 isoform 2	31						extracellular region	hydrolase activity				0		Ovarian(11;0.000137)		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)		AGGTGGCCTCCGGCGGCAGGA	0.711		NaN											0	0	0	0.000602	0	4	66				
THOP1	7064	broad.mit.edu	37	19	2810332	2810332	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:2810332G>A	uc002lwj.2	+	10	1641	c.1486G>A	c.(1486-1488)GTG>ATG	p.V496M	THOP1_uc010xgz.1_Missense_Mutation_p.V375M|THOP1_uc002lwk.2_Missense_Mutation_p.V7M	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	496					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				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)		CGGGACCCACGTGGAGCGGGA	0.692		NaN											0	0	0	0.000602	0	4	55				
CLEC4G	339390	broad.mit.edu	37	19	7794268	7794268	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:7794268T>A	uc002mhp.3	-	9	935	c.866A>T	c.(865-867)AAA>ATA	p.K289I		NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	289	Extracellular (Potential).					integral to membrane	protein binding|sugar binding				0						GTTGTGCCTTTTCTCACAGAT	0.622		NaN											0	0	0	0.006214	0	7	46				
DOCK6	57572	broad.mit.edu	37	19	11313325	11313325	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:11313325C>T	uc002mqs.3	-	42	5337	c.5296G>A	c.(5296-5298)GAG>AAG	p.E1766K	DOCK6_uc002mqr.3_Missense_Mutation_p.E166K|DOCK6_uc010xlq.1_Missense_Mutation_p.E1105K	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1766	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						AACTCCTGCTCATCCAGGTCA	0.622		NaN											0	0	0	0.013537	0	12	220				
JAK3	3718	broad.mit.edu	37	19	17942037	17942037	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:17942037C>G	uc002nhn.3	-	21	3078	c.2978G>C	c.(2977-2979)TGG>TCG	p.W993S	JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Missense_Mutation_p.W993S	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	993	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						GGTTCCCCACCAGAAAATGGG	0.368		2	Mis		acute megakaryocytic leukemia|								0	0	0	0.00245	0	10	74				
COMP	1311	broad.mit.edu	37	19	18898425	18898425	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:18898425C>T	uc002nke.2	-	10	1046	c.1010G>A	c.(1009-1011)CGC>CAC	p.R337H	COMP_uc002nkd.2_Missense_Mutation_p.R304H|COMP_uc010xqj.1_Missense_Mutation_p.R284H	NM_000095	NP_000086	P49747	COMP_HUMAN	cartilage oligomeric matrix protein precursor	337	TSP type-3 3.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding				0						GTCCGTGTTGCGCTGGTCTGG	0.612		NaN											0	0	0	0.012319	0	21	160				
ZNF430	80264	broad.mit.edu	37	19	21239443	21239443	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:21239443A>G	uc002npj.2	+	5	439	c.329A>G	c.(328-330)TAT>TGT	p.Y110C	ZNF430_uc002npk.2_Missense_Mutation_p.Y109C	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2						TCAGTTACATATTCTCATTTT	0.308		NaN											0	0	0	0.004482	0	7	63				
ZNF492	57615	broad.mit.edu	37	19	22836772	22836772	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:22836772G>C	uc002nqw.3	+	3	329	c.85G>C	c.(85-87)GAA>CAA	p.E29Q		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GCAAGGAAAAGAACCTTGGAA	0.423		NaN											0	0	0	0.008291	0	7	160				
MLL4	9757	broad.mit.edu	37	19	36214059	36214059	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:36214059G>A	uc010eei.2	+	6	2885	c.2885G>A	c.(2884-2886)CGC>CAC	p.R962H		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	962	CXXC-type.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGAAGATGCGCATGGCTCGA	0.637		NaN											0	0	0	0.008291	0	7	69		Valid		
ZNF383	163087	broad.mit.edu	37	19	37733704	37733704	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:37733704A>C	uc002oft.1	+	8	1146	c.566A>C	c.(565-567)CAG>CCG	p.Q189P	ZNF383_uc002ofs.1_Missense_Mutation_p.Q124P|ZNF383_uc002ofu.1_Missense_Mutation_p.Q189P	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	zinc finger protein 383	189	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.Q189*(1)		ovary(1)|skin(1)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCAACATCAGAGAATTCAT	0.338		NaN											0	0	0	0.009096	0	4	49				
CATSPERG	57828	broad.mit.edu	37	19	38861352	38861352	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:38861352A>T	uc002oih.3	+	29	3487	c.3400A>T	c.(3400-3402)ATG>TTG	p.M1134L	CATSPERG_uc002oig.3_Missense_Mutation_p.M1094L|CATSPERG_uc002oif.3_Missense_Mutation_p.M774L|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	1134	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						ACATTCCAGGATGGGCTCCAT	0.552		NaN											0	0	0	0.006122	0	15	124				
FAM98C	147965	broad.mit.edu	37	19	38896259	38896259	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:38896259G>A	uc002oin.1	+	6	753	c.734G>A	c.(733-735)TGG>TAG	p.W245*	FAM98C_uc002oio.1_Nonsense_Mutation_p.W219*|FAM98C_uc010xtz.1_Intron	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	hypothetical protein LOC147965	245										skin(1)	1	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCTTTCCACTGGAGTGACCGG	0.612		NaN											0	0	0	0.001984	0	6	71				
PLD3	23646	broad.mit.edu	37	19	40872687	40872687	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:40872687G>A	uc002onm.3	+	5	508	c.110G>A	c.(109-111)CGC>CAC	p.R37H	PLD3_uc002onj.3_Missense_Mutation_p.R37H|PLD3_uc002onk.3_Missense_Mutation_p.R37H|PLD3_uc002onl.3_Missense_Mutation_p.R37H|PLD3_uc002onn.2_Missense_Mutation_p.R37H|PLD3_uc002ono.2_Silent_p.P66P	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	phospholipase D3	37	Cytoplasmic (Potential).				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			skin(2)|ovary(1)	3			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CAGAAAGCCCGCTGGGTCCTG	0.627		NaN											0	0	0	0.001168	0	5	54				
ERCC2	2068	broad.mit.edu	37	19	45867571	45867571	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:45867571G>T	uc002pbj.2	-	9	784	c.737C>A	c.(736-738)TCC>TAC	p.S246Y	ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.S168Y|ERCC2_uc002pbk.2_Missense_Mutation_p.S222Y|ERCC2_uc002pbl.3_Missense_Mutation_p.S222Y|ERCC2_uc010xxj.1_RNA	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	246	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GACGCTCATGGAGTCGATGCA	0.682		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				1	0	3.09899e-07	0.004482	3.27916e-07	8	76		Valid		
CCDC8	83987	broad.mit.edu	37	19	46915949	46915949	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:46915949C>A	uc002pep.2	-	1	971	c.119G>T	c.(118-120)CGG>CTG	p.R40L		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	40						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		ctgggtcagccgctcccgaaa	0.104		NaN											1	0	5.50884e-06	0.013537	5.78873e-06	10	107				
PNMAL2	57469	broad.mit.edu	37	19	46998670	46998670	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:46998670T>C	uc002pes.2	-	1	500	c.53A>G	c.(52-54)CAC>CGC	p.H18R	uc002peu.1_3'UTR	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	18										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		cagggccctgtgcgcgtccac	0.154		NaN											0	0	0	0.008291	0	7	59				
HRC	3270	broad.mit.edu	37	19	49657934	49657934	+	Silent	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:49657934C>G	uc002pmv.2	-	1	748	c.561G>C	c.(559-561)GGG>GGC	p.G187G		NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	187	4 X tandem repeats, acidic.|1-1.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CATCATCTTCCCCATCATGGC	0.463		NaN											0	0	0	0.004482	0	8	97				
DNAJC27	51277	broad.mit.edu	37	2	25180826	25180826	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:25180826G>A	uc002rft.1	-	4	309	c.258C>T	c.(256-258)TAC>TAT	p.Y86Y	DNAJC27_uc010ykn.1_Silent_p.Y15Y|DNAJC27_uc002rfu.1_RNA|DNAJC27_uc010eyg.1_Silent_p.Y86Y	NM_016544	NP_057628	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	86					protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding			skin(1)	1						GTGTGTCCTTGTAAAACTCAT	0.418		NaN											0	0	0	0.001168	0	6	56				
C2orf16	84226	broad.mit.edu	37	2	27803662	27803662	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:27803662A>G	uc002rkz.3	+	1	4274	c.4223A>G	c.(4222-4224)GAC>GGC	p.D1408G	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1408										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					ATCAAAAGAGACAAGAGGTCA	0.488		NaN											0	0	0	0.005443	0	28	111				
PLB1	151056	broad.mit.edu	37	2	28828806	28828806	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:28828806G>T	uc002rmb.1	+	42	3048	c.3048G>T	c.(3046-3048)TGG>TGT	p.W1016C	PLB1_uc010ezj.1_Missense_Mutation_p.W1005C|PLB1_uc002rme.1_Intron|PLB1_uc002rmf.1_RNA	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	1016	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|3.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					GAGCCCTTTGGACCAATATGG	0.522		NaN											1	0	6.12954e-19	0.004656	6.92044e-19	24	185				
GPR75	10936	broad.mit.edu	37	2	54080838	54080838	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:54080838G>C	uc002rxo.3	-	2	1327	c.1056C>G	c.(1054-1056)TTC>TTG	p.F352L	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	352	Helical; Name=7; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|skin(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGTAAAGAATGAAGCTCCCAT	0.443		NaN											0	0	0	0.010504	0	20	91				
ADD2	119	broad.mit.edu	37	2	70890760	70890760	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:70890760C>T	uc002sgz.2	-	16	2443	c.1978G>A	c.(1978-1980)GAA>AAA	p.E660K	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_3'UTR|ADD2_uc002sha.2_Missense_Mutation_p.E354K|ADD2_uc002sgx.2_3'UTR	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	660					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						CTGAGGATTTCCTCTGCCGTC	0.577		NaN											0	0	0	0.004289	0	33	141				
ALMS1	7840	broad.mit.edu	37	2	73651764	73651764	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:73651764T>A	uc002sje.1	+	6	1085	c.974T>A	c.(973-975)ATT>AAT	p.I325N	ALMS1_uc002sjf.1_Missense_Mutation_p.I282N	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	324					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						GAAGAGACTATTTCGTCTGTT	0.418		NaN											0	0	0	0.004482	0	9	43				
HTRA2	27429	broad.mit.edu	37	2	74757342	74757342	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:74757342C>T	uc002smi.1	+	1	811	c.209C>T	c.(208-210)GCA>GTA	p.A70V	AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.A70V|HTRA2_uc002smk.1_Missense_Mutation_p.A70V|HTRA2_uc002sml.1_Missense_Mutation_p.A70V|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	70					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1						GAACCCCGAGCATGCCTGACG	0.657		NaN											0	0	0	0.009096	0	4	14				
LRRTM4	80059	broad.mit.edu	37	2	77746503	77746503	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:77746503C>G	uc002snr.2	-	3	907	c.492G>C	c.(490-492)TTG>TTC	p.L164F	LRRTM4_uc002snq.2_Missense_Mutation_p.L164F|LRRTM4_uc002sns.2_Missense_Mutation_p.L164F|LRRTM4_uc002snt.2_Missense_Mutation_p.L165F	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	164	LRR 5.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		AGTTAGATCTCAAGTGCAAAA	0.413		NaN											0	0	0	0.006214	0	8	80				
ZNF2	7549	broad.mit.edu	37	2	95847683	95847683	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:95847683T>C	uc002suf.2	+	6	1569	c.1107T>C	c.(1105-1107)TAT>TAC	p.Y369Y	ZNF2_uc002sug.2_Silent_p.Y327Y|ZNF2_uc010yue.1_Silent_p.Y332Y|ZNF2_uc010fhs.2_Silent_p.Y290Y	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2 isoform a	369	C2H2-type 8.			Y -> H (in Ref. 2; AAH05068).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		ACAAGCCATATGAATGCAGCG	0.552		NaN											0	0	0	0.011902	0	31	169				
CNNM4	26504	broad.mit.edu	37	2	97427544	97427544	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:97427544A>T	uc002swx.2	+	1	906	c.808A>T	c.(808-810)ATG>TTG	p.M270L		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4	270	Helical; (Potential).|DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|ovary(1)	3						GTCCGGCCTCATGGCGGTGGC	0.592		NaN											0	0	0	0.00245	0	12	176				
AFF3	3899	broad.mit.edu	37	2	100170804	100170804	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:100170804C>G	uc002tag.2	-	23	3764	c.3528G>C	c.(3526-3528)GAG>GAC	p.E1176D	AFF3_uc002taf.2_Missense_Mutation_p.E1201D	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	1176					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						TGTCGGCCATCTCCCAGTAGT	0.507		NaN											0	0	0	0.008291	0	10	190				
IL1B	3553	broad.mit.edu	37	2	113590327	113590327	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:113590327G>C	uc002tii.1	-	5	465	c.378C>G	c.(376-378)CTC>CTG	p.L126L	IL1B_uc002tih.1_Silent_p.L95L	NM_000576	NP_000567	P01584	IL1B_HUMAN	interleukin 1, beta proprotein	126					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			lung(3)|breast(1)	4					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	GTGAGTCCCGGAGCGTGCAGT	0.478		NaN											0	0	0	0.008871	0	14	157				
NCKAP5	344148	broad.mit.edu	37	2	133887605	133887606	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:133887605_133887606GG>TT	uc002ttp.2	-	6	659_660	c.285_286CC>AA	c.(283-288)ACCCTA>ACAATA	p.L96I	NCKAP5_uc002ttq.2_Missense_Mutation_p.L96I|NCKAP5_uc002ttt.1_Missense_Mutation_p.L96I|NCKAP5_uc002tts.1_Missense_Mutation_p.L71I	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	96	Potential.						protein binding				0						TCAGACTCTAGGGTCACCTCCT	0.48		NaN											0	0	0	0.004672	0	5	28				
NEB	4703	broad.mit.edu	37	2	152536298	152536298	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:152536298A>G	uc010fnx.2	-	32	3383	c.3192T>C	c.(3190-3192)TAT>TAC	p.Y1064Y		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1064	Nebulin 26.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTCAGGTCATATCCCTTCT	0.443		NaN											0	0	0	0.001855	0	10	117				
TBR1	10716	broad.mit.edu	37	2	162273127	162273127	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:162273127C>T	uc002ubw.1	+	1	508	c.206C>T	c.(205-207)CCT>CTT	p.P69L	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	69						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						GACAATTTTCCTGACTCCAAG	0.488		NaN											0	0	0	0.013537	0	11	72				
DHRS9	10170	broad.mit.edu	37	2	169948457	169948457	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:169948457G>A	uc002uep.2	+	7	2234	c.730G>A	c.(730-732)GAA>AAA	p.E244K	DHRS9_uc002ueq.2_Missense_Mutation_p.E244K|DHRS9_uc010zdc.1_Missense_Mutation_p.E304K|DHRS9_uc010zdd.1_Missense_Mutation_p.E244K|DHRS9_uc010zde.1_Missense_Mutation_p.E244K	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	244					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity				0						AGGTTACATTGAAAAAAGTGA	0.403		NaN											0	0	0	0.009096	0	4	43				
MTX2	10651	broad.mit.edu	37	2	177161616	177161616	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:177161616A>G	uc002ukx.2	+	2	304	c.69A>G	c.(67-69)ACA>ACG	p.T23T	MTX2_uc002ukw.2_Silent_p.T13T	NM_006554	NP_006545	O75431	MTX2_HUMAN	metaxin 2	23					protein targeting to mitochondrion	mitochondrial outer membrane				ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			AAAATGCTACATTATATCAGC	0.313		NaN											0	0	0	0.003954	0	21	150				
TTN	7273	broad.mit.edu	37	2	179635334	179635334	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:179635334C>G	uc010zfg.1	-	35	8409	c.8185G>C	c.(8185-8187)GAG>CAG	p.E2729Q	TTN_uc010zfh.1_Missense_Mutation_p.E2683Q|TTN_uc010zfi.1_Missense_Mutation_p.E2683Q|TTN_uc010zfj.1_Missense_Mutation_p.E2683Q|TTN_uc002unb.2_Missense_Mutation_p.E2729Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2729							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)			TGTGTAAGCTCGACAGTGAAA	0.378		NaN											0	0	0	0.007413	0	16	136				
SLC39A10	57181	broad.mit.edu	37	2	196581361	196581361	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:196581361G>C	uc002utg.3	+	7	1911	c.1697G>C	c.(1696-1698)GGA>GCA	p.G566A	SLC39A10_uc002uth.3_Missense_Mutation_p.G566A|SLC39A10_uc010zgp.1_Missense_Mutation_p.G116A	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter),	566					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.221)			ATAAATACAGGAACTGATGAC	0.323		NaN											0	0	0	0.013537	0	11	82				
FN1	2335	broad.mit.edu	37	2	216245603	216245603	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:216245603A>G	uc002vfa.2	-	33	5631	c.5365T>C	c.(5365-5367)TAC>CAC	p.Y1789H	FN1_uc002vfb.2_Intron|FN1_uc002vfc.2_Intron|FN1_uc002vfd.2_Missense_Mutation_p.Y1789H|FN1_uc002vfe.2_Missense_Mutation_p.Y1698H|FN1_uc002vff.2_Missense_Mutation_p.Y1698H|FN1_uc002vfg.2_Intron|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Missense_Mutation_p.Y1789H|FN1_uc002vfj.2_Intron|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Intron|FN1_uc002vfk.1_5'Flank|FN1_uc010fva.1_5'Flank|FN1_uc010fvb.1_5'Flank|FN1_uc010fvc.1_Missense_Mutation_p.Y151H|FN1_uc010fvd.1_Intron	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1788	Heparin-binding 2.|Fibronectin type-III 13.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGACTGTGTACTCAGAACCC	0.542		NaN											0	0	0	0.010504	0	22	127				
ARPC2	10109	broad.mit.edu	37	2	219110212	219110212	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:219110212C>G	uc002vhd.2	+	8	731	c.619C>G	c.(619-621)CTG>GTG	p.L207V	ARPC2_uc002vhe.2_Missense_Mutation_p.L207V|ARPC2_uc002vhf.2_Missense_Mutation_p.L93V	NM_152862	NP_690601	O15144	ARPC2_HUMAN	actin related protein 2/3 complex subunit 2	207					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		GGAACCTCCTCTGGAGCTGAA	0.527		NaN											0	0	0	0.010729	0	11	99				
WNT10A	80326	broad.mit.edu	37	2	219746934	219746934	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:219746934C>T	uc002vjd.1	+	2	628	c.165C>T	c.(163-165)CTC>CTT	p.L55L		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family,	55					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			lung(1)|skin(1)	2		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCCGTGCTCAATGCCAACA	0.617		NaN											0	0	0	0.00278	0	19	67				
COL4A3	1285	broad.mit.edu	37	2	228172496	228172496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:228172496G>A	uc002vom.1	+	48	4485	c.4323G>A	c.(4321-4323)TGG>TGA	p.W1441*	COL4A3_uc002von.1_Nonsense_Mutation_p.W1441*|COL4A3_uc002voo.1_Nonsense_Mutation_p.W1441*|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_5'UTR	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1441	Epitope recognized by Goodpasture antibodies.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CTGCAACCTGGACAACGAGAG	0.468		NaN											0	0	0	0.00245	0	13	88				
ALPI	248	broad.mit.edu	37	2	233321093	233321093	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:233321093G>A	uc002vst.3	+	2	179	c.102G>A	c.(100-102)CAG>CAA	p.Q34Q	ALPI_uc002vsu.3_5'UTR	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	34					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGAACCGCCAGGCAGCTGAGG	0.627		NaN											0	0	0	0.007413	0	17	79				
MTERFD2	130916	broad.mit.edu	37	2	242035577	242035577	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:242035577C>G	uc002wan.1	-	3	1562	c.1069G>C	c.(1069-1071)GAG>CAG	p.E357Q	MTERFD2_uc010zoj.1_Missense_Mutation_p.E140Q	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	328										ovary(1)	1		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		GTGCTGCTCTCAGACTCCTCC	0.333		NaN											0	0	0	0.008291	0	6	55				
ING5	84289	broad.mit.edu	37	2	242662468	242662468	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:242662468G>A	uc002wcd.2	+	6	622	c.597G>A	c.(595-597)ATG>ATA	p.M199I		NM_032329	NP_115705	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	199	PHD-type.				DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		ATGGGGAGATGATTGGCTGTG	0.602		NaN											0	0	0	0.000602	0	5	82				
ZNF343	79175	broad.mit.edu	37	20	2463828	2463828	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:2463828G>A	uc002wge.1	-	6	2267	c.1779C>T	c.(1777-1779)ATC>ATT	p.I593I	ZNF343_uc010gao.1_Silent_p.I593I|ZNF343_uc002wgd.1_Silent_p.I503I	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	593	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TCTGGTGTCTGATGAGATTTG	0.507		NaN											0	0	0	0.010729	0	9	75				
BPIL3	128859	broad.mit.edu	37	20	31624294	31624294	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:31624294G>C	uc010zuc.1	+	7	621	c.621G>C	c.(619-621)CTG>CTC	p.L207L	BPIL3_uc010zud.1_Silent_p.L146L	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	bactericidal/permeability-increasing	207						extracellular region	lipid binding			ovary(1)|pancreas(1)	2						AATATGTTCTGATGTCCGCAC	0.587		NaN											0	0	0	0.009535	0	24	319				
TRPC4AP	26133	broad.mit.edu	37	20	33593524	33593524	+	Missense_Mutation	SNP	C	C	T	rs143166417	byFrequency	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:33593524C>T	uc002xbk.2	-	16	1944	c.1910G>A	c.(1909-1911)CGA>CAA	p.R637Q	TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Missense_Mutation_p.R228Q|TRPC4AP_uc002xbl.2_Missense_Mutation_p.R629Q|TRPC4AP_uc010zur.1_Missense_Mutation_p.R598Q	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	TRPC4-associated protein isoform a	637					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTTTTCAAATCGGTCCAGGGA	0.507		NaN											0	0	0	0.006122	0	13	108				
PHF20	51230	broad.mit.edu	37	20	34457364	34457364	+	Silent	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:34457364G>T	uc002xek.1	+	7	924	c.813G>T	c.(811-813)GTG>GTT	p.V271V	PHF20_uc002xei.1_Silent_p.V271V|PHF20_uc010gfo.1_Silent_p.V271V|PHF20_uc002xej.1_Silent_p.V155V|PHF20_uc002xel.1_Silent_p.V133V	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					TGGTAGCTGTGGATTCAAACT	0.294		NaN											1	0	3.27435e-08	0.00245	3.49725e-08	14	68				
CHD6	84181	broad.mit.edu	37	20	40033522	40033522	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:40033522C>A	uc002xka.1	-	37	8037	c.7859G>T	c.(7858-7860)GGA>GTA	p.G2620V	CHD6_uc002xjz.1_Missense_Mutation_p.G157V	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2620					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				GTAAATGAGTCCAGGAGATAC	0.512		NaN											1	0	0.00010058	0.013537	0.000103538	13	56				
CHD6	84181	broad.mit.edu	37	20	40118569	40118569	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:40118569C>A	uc002xka.1	-	12	1707	c.1529G>T	c.(1528-1530)GGC>GTC	p.G510V	CHD6_uc002xkd.2_Missense_Mutation_p.G488V	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	510	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				GAGAAAAGGGCCGTGGATTCC	0.493		NaN											1	0	4.59853e-10	0.005443	5.00558e-10	27	119				
PCK1	5105	broad.mit.edu	37	20	56136669	56136669	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:56136669C>T	uc002xyn.3	+	2	365	c.202C>T	c.(202-204)CGG>TGG	p.R68W	PCK1_uc010zzm.1_5'UTR	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	68					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CATCCTCAGGCGGCTGAAGAA	0.617		NaN											0	0	0	0.001855	0	12	110				
LAMA5	3911	broad.mit.edu	37	20	60904247	60904247	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:60904247C>T	uc002ycq.2	-	33	4249	c.4182G>A	c.(4180-4182)CTG>CTA	p.L1394L		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1394	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGATTTATCCAGGGGCTCCT	0.637		NaN											0	0	0	0.014323	0	21	120				
ADAMTS5	11096	broad.mit.edu	37	21	28296403	28296403	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr21:28296403G>A	uc002ymg.2	-	8	3491	c.2762C>T	c.(2761-2763)GCG>GTG	p.A921V		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	921	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						TTGCTTAAACGCAGAAGGCCT	0.483		NaN											0	0	0	0.010729	0	10	68				
RNF160	26046	broad.mit.edu	37	21	30331900	30331900	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr21:30331900C>A	uc002ymr.2	-	13	2624	c.2611G>T	c.(2611-2613)GAT>TAT	p.D871Y		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	825							ligase activity|zinc ion binding				0						TAGGCCACATCACAGATAAAA	0.343		NaN											1	0	3.62473e-10	0.012319	3.95504e-10	18	102				
KRTAP13-2	337959	broad.mit.edu	37	21	31744204	31744204	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr21:31744204G>T	uc002ynz.3	-	1	354	c.328C>A	c.(328-330)CTG>ATG	p.L110M		NM_181621	NP_853652	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	110						intermediate filament					0						CCATAGCCCAGGGAGCGGCAG	0.597		NaN											1	0	1.12685e-05	0.004482	1.17866e-05	7	60				
BRWD1	54014	broad.mit.edu	37	21	40650683	40650683	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr21:40650683G>A	uc002yxk.1	-	10	1128	c.989C>T	c.(988-990)TCT>TTT	p.S330F	BRWD1_uc002yxl.2_Missense_Mutation_p.S330F|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.S50F	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	330	WD 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACTAAAAGAAGAACAAAGCAT	0.328		NaN											0	0	0	0.004482	0	6	110				
DGCR8	54487	broad.mit.edu	37	22	20074169	20074169	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:20074169A>G	uc002zri.2	+	2	1033	c.683A>G	c.(682-684)GAC>GGC	p.D228G	DGCR8_uc010grz.2_Missense_Mutation_p.D228G|DGCR8_uc002zrj.2_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	228	Necessary for nuclear localization and retention.|Necessary for interaction with NCL.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					GTTCAGAGAGACAGAGTGGAT	0.478		NaN											0	0	0	0.009718	0	39	261				
TOP3B	8940	broad.mit.edu	37	22	22314027	22314027	+	Missense_Mutation	SNP	C	C	T	rs138357708		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:22314027C>T	uc002zvs.2	-	15	2171	c.1736G>A	c.(1735-1737)CGC>CAC	p.R579H	TOP3B_uc010gtm.1_Missense_Mutation_p.R124H|TOP3B_uc002zvr.2_Missense_Mutation_p.R304H|TOP3B_uc010gtl.2_Missense_Mutation_p.R579H|TOP3B_uc002zvt.3_Missense_Mutation_p.R579H	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	579					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			kidney(1)	1	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CAGGACCTGGCGGTAGTCGGC	0.622		NaN											0	0	0	0.010504	0	20	211				
GNAZ	2781	broad.mit.edu	37	22	23438386	23438386	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:23438386T>C	uc002zwu.1	+	2	1041	c.504T>C	c.(502-504)TAT>TAC	p.Y168Y	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	168						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CAGCTGACTATATCCCCACTG	0.607		NaN											0	0	0	0.010729	0	11	90				
RAB36	9609	broad.mit.edu	37	22	23500179	23500179	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:23500179T>A	uc002zwv.1	+	7	633	c.593T>A	c.(592-594)GTG>GAG	p.V198E	RAB36_uc010gtw.1_Missense_Mutation_p.V176E	NM_004914	NP_004905	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	198					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		GGGTGTCTAGTGATCATCACG	0.622		NaN											0	0	0	0.004289	0	28	249				
EMID1	129080	broad.mit.edu	37	22	29622494	29622494	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:29622494G>A	uc003aen.2	+	5	488	c.413G>A	c.(412-414)AGC>AAC	p.S138N	EMID1_uc003aem.2_Missense_Mutation_p.S140N|EMID1_uc003aeo.2_Missense_Mutation_p.S140N|EMID1_uc003aep.2_Missense_Mutation_p.S140N	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	EMI domain containing 1	138						collagen					0						CTCAACTGCAGCAAAGTGTCA	0.632		NaN											0	0	0	0.006122	0	15	55				
EP300	2033	broad.mit.edu	37	22	41553402	41553402	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:41553402G>A	uc003azl.3	+	18	3886	c.3491G>A	c.(3490-3492)TGT>TAT	p.C1164Y		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1164					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						GGATACTGTTGTGGCAGAAAG	0.393		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				0	0	0	0.004878	0	30	121		Valid		
ACO2	50	broad.mit.edu	37	22	41918881	41918881	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:41918881T>A	uc003bac.2	+	10	1208	c.1186T>A	c.(1186-1188)TCA>ACA	p.S396T	ACO2_uc003bad.2_Missense_Mutation_p.S421T	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	396					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(2)|ovary(1)|lung(1)	4						TATGGGGCGCTCAGCAGCTGT	0.572		NaN											0	0	0	0.008871	0	19	78				
TTLL1	25809	broad.mit.edu	37	22	43459894	43459894	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:43459894C>T	uc003bdi.2	-	7	913	c.672G>A	c.(670-672)GTG>GTA	p.V224V	TTLL1_uc010gzh.2_Silent_p.V224V|TTLL1_uc003bdj.2_Silent_p.V110V|TTLL1_uc003bdh.2_Silent_p.V186V	NM_012263	NP_036395	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	224	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			skin(1)	1		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		GGGTGTATTTCACTGTGCAGA	0.458		NaN											0	0	0	0.004482	0	6	159				
SMC1B	27127	broad.mit.edu	37	22	45802460	45802460	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:45802460C>T	uc003bgc.2	-	4	548	c.496G>A	c.(496-498)GGA>AGA	p.G166R	SMC1B_uc003bgd.2_Missense_Mutation_p.G166R|SMC1B_uc003bge.1_5'UTR	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	166	Potential.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCATATTCTCCTATAAGCTCT	0.363		NaN											0	0	0	0.000602	0	5	57				
CHL1	10752	broad.mit.edu	37	3	403383	403383	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:403383T>A	uc003bou.2	+	12	1531	c.1260T>A	c.(1258-1260)GAT>GAA	p.D420E	CHL1_uc003bot.2_Missense_Mutation_p.D436E|CHL1_uc003bow.1_Missense_Mutation_p.D420E|CHL1_uc011asi.1_Missense_Mutation_p.D436E	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	420	Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTCAAATAGATGTCCGTCCAT	0.353		NaN											0	0	0	0.006122	0	17	161				
FANCD2	2177	broad.mit.edu	37	3	10133873	10133873	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:10133873A>C	uc003buw.2	+	38	3864	c.3786A>C	c.(3784-3786)GAA>GAC	p.E1262D	FANCD2_uc003bux.1_Missense_Mutation_p.E1262D|FANCD2_uc003buy.1_Missense_Mutation_p.E1262D|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	1262					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGATTCATGAAGAGAAACTCC	0.418		NaN	D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.01441	0	64	303				
SGOL1	151648	broad.mit.edu	37	3	20215950	20215950	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:20215950C>G	uc003cbs.2	-	6	1260	c.1073G>C	c.(1072-1074)AGA>ACA	p.R358T	SGOL1_uc003cbr.2_Intron|SGOL1_uc010hfa.2_Intron|SGOL1_uc003cbt.2_Intron|SGOL1_uc003cbu.2_Missense_Mutation_p.R358T|SGOL1_uc003cbv.2_Intron|SGOL1_uc003cbw.2_Intron|SGOL1_uc003cbx.2_Intron|SGOL1_uc003cby.2_Intron|SGOL1_uc003cbz.2_Missense_Mutation_p.R358T|SGOL1_uc003cca.2_Missense_Mutation_p.R358T|SGOL1_uc003ccb.2_Intron|SGOL1_uc003ccc.2_Intron	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 isoform A2	358					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding				0						GTTTTCTTCTCTATTAGAGTC	0.398		NaN											0	0	0	0.001855	0	13	109				
MYD88	4615	broad.mit.edu	37	3	38180222	38180222	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:38180222G>A	uc003chx.2	+	1	254	c.70G>A	c.(70-72)GCG>ACG	p.A24T	ACAA1_uc003cht.2_5'Flank|ACAA1_uc003chu.2_5'Flank|ACAA1_uc010hgy.2_5'Flank|ACAA1_uc010hgz.2_5'Flank|ACAA1_uc003chv.2_5'Flank|MYD88_uc011ayh.1_Missense_Mutation_p.A24T|MYD88_uc011ayi.1_Missense_Mutation_p.A24T|MYD88_uc011ayj.1_Missense_Mutation_p.A24T|MYD88_uc011ayk.1_Missense_Mutation_p.A24T|MYD88_uc011ayl.1_Missense_Mutation_p.A24T	NM_002468	NP_002459	Q99836	MYD88_HUMAN	myeloid differentiation primary response gene	11					3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(93)|breast(1)	94				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CGCGGGGTCTGCGGCCCCGGT	0.687		NaN	Mis 		ABC-DLBCL								0	0	0	0.006214	0	9	43				
XIRP1	165904	broad.mit.edu	37	3	39229444	39229444	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:39229444G>C	uc003cjk.1	-	2	1714	c.1493C>G	c.(1492-1494)TCT>TGT	p.S498C	XIRP1_uc003cji.2_Missense_Mutation_p.S498C|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	498							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCTGCTAACAGAGGTCAGGGC	0.592		NaN											0	0	0	0.004482	0	8	167				
ZNF167	55888	broad.mit.edu	37	3	44612226	44612226	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:44612226C>T	uc010hin.2	+	6	2012	c.1624C>T	c.(1624-1626)CAG>TAG	p.Q542*	ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Nonsense_Mutation_p.Q542*|ZNF167_uc003cnk.2_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	542	C2H2-type 6.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		CATTGACCATCAGAGAATCCA	0.453		NaN											0	0	0	0.006122	0	15	160				
ZNF35	7584	broad.mit.edu	37	3	44700861	44700861	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:44700861T>C	uc003cnq.2	+	4	1227	c.1006T>C	c.(1006-1008)TGT>CGT	p.C336R	ZNF35_uc003cnr.2_Missense_Mutation_p.C176R	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	336	C2H2-type 5.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		ATGCTATGAATGTAATGAATG	0.428		NaN											0	0	0	0.001168	0	6	60				
SCAP	22937	broad.mit.edu	37	3	47458631	47458631	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:47458631G>A	uc003crh.1	-	18	3292	c.3037C>T	c.(3037-3039)CTG>TTG	p.L1013L	SCAP_uc011baz.1_Silent_p.L757L|SCAP_uc003crg.2_Silent_p.L620L	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	1013	Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity).|WD 3.				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AAGAACACCAGAGCGGTAATG	0.587		NaN											0	0	0	0.00245	0	13	60				
COL7A1	1294	broad.mit.edu	37	3	48605567	48605567	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:48605567C>T	uc003ctz.2	-	105	7832	c.7831G>A	c.(7831-7833)GGA>AGA	p.G2611R		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2611	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTTTTTCTCCTCGGATACCA	0.532		NaN											0	0	0	0.010504	0	16	83				
CELSR3	1951	broad.mit.edu	37	3	48687965	48687965	+	Silent	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:48687965G>T	uc003cul.2	-	16	6701	c.6420C>A	c.(6418-6420)CCC>CCA	p.P2140P	CELSR3_uc003cuf.1_Silent_p.P2210P|CELSR3_uc010hkg.2_Silent_p.P118P	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	2140	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTTTGTCTGGGGCCACCACA	0.617		NaN											1	0	5.9392e-07	0.001168	6.26992e-07	5	51				
DOCK3	1795	broad.mit.edu	37	3	51308411	51308411	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:51308411G>T	uc011bds.1	+	24	2544	c.2521G>T	c.(2521-2523)GTG>TTG	p.V841L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	841						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGCCAGGACAGTGGATAGCCG	0.547		NaN											1	0	6.12954e-19	0.004656	6.92044e-19	22	196				
GRM2	2912	broad.mit.edu	37	3	51750145	51750145	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:51750145G>A	uc010hlv.2	+	4	2595	c.2356G>A	c.(2356-2358)GAC>AAC	p.D786N	GRM2_uc003dbo.3_Missense_Mutation_p.D168N|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	786	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CACCTCCAGTGACTACCGGGT	0.532		NaN											0	0	0	0.009096	0	4	68				
SEMA3G	56920	broad.mit.edu	37	3	52473771	52473771	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:52473771G>C	uc003dea.1	-	12	1392	c.1392C>G	c.(1390-1392)CTC>CTG	p.L464L		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	semaphorin sem2 precursor	464	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CGATGACTTTGAGCACAGACC	0.632		NaN											0	0	0	0.00308	0	7	61				
PRKCD	5580	broad.mit.edu	37	3	53217515	53217515	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:53217515T>C	uc003dgl.2	+	9	1058	c.705T>C	c.(703-705)GTT>GTC	p.V235V	PRKCD_uc003dgm.2_Silent_p.V235V|PRKCD_uc010hmt.1_Silent_p.V7V	NM_006254	NP_006245	Q05655	KPCD_HUMAN	protein kinase C, delta	235	Phorbol-ester/DAG-type 2.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GCTTCAAGGTTCACAACTACA	0.592		NaN											0	0	0	0.012319	0	19	121				
C3orf63	23272	broad.mit.edu	37	3	56674101	56674101	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:56674101G>A	uc003did.3	-	16	2778	c.2677C>T	c.(2677-2679)CCC>TCC	p.P893S	C3orf63_uc003dic.3_Missense_Mutation_p.P497S|C3orf63_uc003die.3_Missense_Mutation_p.P893S	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	893										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		TGTTCAATGGGAACACTGGGA	0.323		NaN											0	0	0	0.001984	0	4	41				
DZIP3	9666	broad.mit.edu	37	3	108355537	108355537	+	Silent	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:108355537T>G	uc003dxd.2	+	11	1415	c.993T>G	c.(991-993)CCT>CCG	p.P331P	DZIP3_uc003dxf.1_Silent_p.P331P|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Silent_p.P331P|DZIP3_uc003dxg.1_Silent_p.P54P	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	331					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GTGATGTACCTGGAATTGTTA	0.313		NaN											0	0	0	0.003271	0	28	169				
SLC9A10	285335	broad.mit.edu	37	3	111936346	111936346	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:111936346C>T	uc003dyu.2	-	15	1955	c.1733G>A	c.(1732-1734)AGA>AAA	p.R578K	SLC9A10_uc011bhu.1_5'UTR|SLC9A10_uc010hqc.2_Missense_Mutation_p.R530K	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	578					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5						TAGTAGTTTTCTAGCAAAGGT	0.303		NaN											0	0	0	0.001168	0	5	82				
GSK3B	2932	broad.mit.edu	37	3	119720941	119720941	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:119720941T>C	uc003edo.2	-	2	1217	c.234A>G	c.(232-234)TCA>TCG	p.S78S	GSK3B_uc003edn.2_Silent_p.S78S	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta isoform 2	78	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			lung(2)	2				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	CCAGTTCTCCTGAATCACAAA	0.398		NaN											0	0	0	0.01441	0	42	224				
SEMA5B	54437	broad.mit.edu	37	3	122667521	122667521	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:122667521C>T	uc003efz.1	-	3	464	c.160G>A	c.(160-162)GCA>ACA	p.A54T	SEMA5B_uc011bju.1_5'UTR|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.A54T|SEMA5B_uc010hro.1_5'UTR|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	54	Extracellular (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		GGCCCCTCTGCAGTCCTAGCT	0.612		NaN											0	0	0	0.006214	0	6	52				
SNX4	8723	broad.mit.edu	37	3	125166629	125166629	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:125166629C>T	uc003eib.2	-	14	1389	c.1347G>A	c.(1345-1347)AAG>AAA	p.K449K	SNX4_uc011bkf.1_Silent_p.K304K	NM_003794	NP_003785	O95219	SNX4_HUMAN	sorting nexin 4	449					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4						AGGATTACATCTTGCTAAAGC	0.313		NaN											0	0	0	0.014323	0	17	118				
A4GNT	51146	broad.mit.edu	37	3	137843160	137843160	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:137843160C>T	uc003ers.2	-	3	1171	c.969G>A	c.(967-969)CTG>CTA	p.L323L		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	323	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)	1						GGCCTTTAATCAGGTCCCTGT	0.522		NaN											0	0	0	0.001984	0	7	114				
ZBTB38	253461	broad.mit.edu	37	3	141161237	141161237	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:141161237G>A	uc003etw.2	+	8	989	c.7G>A	c.(7-9)GTC>ATC	p.V3I	ZBTB38_uc010hun.2_5'UTR|ZBTB38_uc010huo.2_Missense_Mutation_p.V3I|ZBTB38_uc003ety.2_Missense_Mutation_p.V3I|ZBTB38_uc010hup.2_Missense_Mutation_p.V4I	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	3					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						TCAGATGACAGTCATGTCCCT	0.438		NaN											0	0	0	0.010504	0	19	121				
ZBTB38	253461	broad.mit.edu	37	3	141163550	141163550	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:141163550A>G	uc003etw.2	+	8	3302	c.2320A>G	c.(2320-2322)ATT>GTT	p.I774V	ZBTB38_uc010hun.2_Missense_Mutation_p.I771V|ZBTB38_uc010huo.2_Missense_Mutation_p.I774V|ZBTB38_uc003ety.2_Missense_Mutation_p.I774V|ZBTB38_uc010hup.2_Missense_Mutation_p.I775V	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	774					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						ACCCAAAAGCATTAAGGAGAA	0.468		NaN											0	0	0	0.00308	0	6	39				
ATR	545	broad.mit.edu	37	3	142226809	142226809	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:142226809C>T	uc003eux.3	-	28	5117	c.4995G>A	c.(4993-4995)AAG>AAA	p.K1665K		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1665	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TATTTTGCTTCTTTTCTGTAA	0.348		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.006214	0	8	48				
HPS3	84343	broad.mit.edu	37	3	148872982	148872982	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:148872982G>A	uc003ewu.1	+	8	1629	c.1489G>A	c.(1489-1491)GTG>ATG	p.V497M	HPS3_uc011bnq.1_Missense_Mutation_p.V332M	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	497						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GATCTCACCAGTGCAGCTGTA	0.333		NaN							Hermansky-Pudlak_syndrome				0	0	0	0.004007	0	14	84				
CCNL1	57018	broad.mit.edu	37	3	156866286	156866286	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:156866286T>A	uc003fbf.2	-	11	1924	c.1325A>T	c.(1324-1326)AAT>ATT	p.N442I	CCNL1_uc003fbd.1_Intron|CCNL1_uc003fbe.2_Missense_Mutation_p.N236I|CCNL1_uc003fbg.2_RNA|CCNL1_uc011bor.1_RNA	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	cyclin L1	442					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			lung(3)|breast(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			AGAACCATGATTATGATGTCT	0.423		NaN											0	0	0	0.014323	0	21	124				
SMC4	10051	broad.mit.edu	37	3	160138558	160138558	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:160138558G>C	uc003fdh.2	+	13	2001	c.1888G>C	c.(1888-1890)GAC>CAC	p.D630H	IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.D394H|SMC4_uc003fdi.2_Missense_Mutation_p.D605H|SMC4_uc003fdj.2_Missense_Mutation_p.D630H|SMC4_uc010hwd.2_Missense_Mutation_p.D630H|SMC4_uc003fdl.2_Missense_Mutation_p.D333H	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	630	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGAAAAATACGACGTGGCTAT	0.373		NaN											0	0	0	0.010504	0	18	133				
CCDC39	339829	broad.mit.edu	37	3	180359944	180359944	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:180359944T>G	uc010hxe.2	-	13	1826	c.1711A>C	c.(1711-1713)ACT>CCT	p.T571P	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	571	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATTTCTCGAGTACGCTTAACT	0.323		NaN											0	0	0	0.010729	0	10	24				
KLHL6	89857	broad.mit.edu	37	3	183217612	183217612	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:183217612T>A	uc003flr.2	-	4	971	c.913A>T	c.(913-915)ATT>TTT	p.I305F	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Intron	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	305										haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CGTTCCGAAATGATCTGGAAA	0.363		NaN											0	0	0	0.001984	0	6	42				
EPHB3	2049	broad.mit.edu	37	3	184299392	184299392	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:184299392G>A	uc003foz.2	+	16	3416	c.2979G>A	c.(2977-2979)ACG>ACA	p.T993T		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	993	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGAACCAGACGCTGCCTGTGC	0.617		NaN											0	0	0	0.009096	0	3	29				
DGKG	1608	broad.mit.edu	37	3	185970927	185970927	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:185970927G>A	uc003fqa.2	-	18	2092	c.1555C>T	c.(1555-1557)CTT>TTT	p.L519F	DGKG_uc003fqb.2_Missense_Mutation_p.L480F|DGKG_uc003fqc.2_Missense_Mutation_p.L494F|DGKG_uc011brx.1_Missense_Mutation_p.L460F	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	519	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CCTGTTCCAAGAGGCAGGACA	0.512		NaN											0	0	0	0.007413	0	15	126				
KIAA0226	9711	broad.mit.edu	37	3	197427591	197427591	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:197427591C>T	uc003fyc.2	-	7	1337	c.1154G>A	c.(1153-1155)CGC>CAC	p.R385H	KIAA0226_uc003fyd.3_Missense_Mutation_p.R325H|KIAA0226_uc003fye.1_Missense_Mutation_p.R92H|KIAA0226_uc003fyf.2_Missense_Mutation_p.R218H|KIAA0226_uc003fyg.2_Missense_Mutation_p.R378H	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	385	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GCTGGACCTGCGGAGGACACT	0.577		NaN											0	0	0	0.012319	0	22	85				
FGFR3	2261	broad.mit.edu	37	4	1807559	1807559	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:1807559C>T	uc003gdr.3	+	13	1984	c.1728C>T	c.(1726-1728)GAC>GAT	p.D576D	FGFR3_uc003gdu.2_Silent_p.D578D|FGFR3_uc003gds.3_Silent_p.D464D|FGFR3_uc003gdq.3_Silent_p.D577D	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	576	Protein kinase.|Cytoplasmic (Potential).				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	cgggccTGGACTACTCCTTCG	0.567		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.01441	0	35	159				
OTOP1	133060	broad.mit.edu	37	4	4199012	4199012	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:4199012C>T	uc003ghp.1	-	5	1579	c.1549G>A	c.(1549-1551)GAG>AAG	p.E517K		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	517					biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTGCTCTCCTCCTGCTTCTCC	0.567		NaN											0	0	0	0.00308	0	8	80				
GABRB1	2560	broad.mit.edu	37	4	47427924	47427924	+	Silent	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:47427924C>G	uc003gxh.2	+	9	1688	c.1314C>G	c.(1312-1314)GTC>GTG	p.V438V	GABRB1_uc011bze.1_Silent_p.V368V	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	438	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGCTCAAAGTCAAGATCCCCG	0.572		NaN											0	0	0	0.012319	0	20	157				
GC	2638	broad.mit.edu	37	4	72622632	72622632	+	Splice_Site	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:72622632C>T	uc003hge.2	-	8	985	c.832_splice	c.e8-1	p.L278_splice	GC_uc003hgd.2_Splice_Site_p.L156_splice|GC_uc010iie.2_Splice_Site_p.L278_splice|GC_uc010iif.2_Splice_Site_p.L297_splice	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor						hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GTTCAGGCAGCTACAAAACGA	0.338		NaN											0	0	0	0.01441	0	54	84				
ANKRD17	26057	broad.mit.edu	37	4	73959821	73959821	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:73959821T>C	uc003hgp.2	-	28	5419	c.5302A>G	c.(5302-5304)ACT>GCT	p.T1768A	ANKRD17_uc003hgo.2_Missense_Mutation_p.T1655A|ANKRD17_uc003hgq.2_Missense_Mutation_p.T1517A|ANKRD17_uc003hgr.2_Missense_Mutation_p.T1767A	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1768	KH.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CGGTCTCCAGTCTTGTCTTTC	0.358		NaN											0	0	0	0.01441	0	139	120				
WDFY3	23001	broad.mit.edu	37	4	85678145	85678145	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:85678145A>T	uc003hpd.2	-	33	5766	c.5358T>A	c.(5356-5358)AGT>AGA	p.S1786R		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1786						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAGGCAGCTCACTAACTGGCT	0.502		NaN											0	0	0	0.013726	0	30	214				
HERC6	55008	broad.mit.edu	37	4	89352340	89352340	+	Silent	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:89352340T>A	uc011cdi.1	+	17	2316	c.2133T>A	c.(2131-2133)CCT>CCA	p.P711P	HERC6_uc011cdj.1_Silent_p.P675P|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	711	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(3)|ovary(1)|kidney(1)	5		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AAATTTGTCCTGAGTCTGGAG	0.373		NaN											0	0	0	0.003163	0	14	118				
GPRIN3	285513	broad.mit.edu	37	4	90169257	90169257	+	Missense_Mutation	SNP	C	C	T	rs140505056		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:90169257C>T	uc003hsm.1	-	2	2524	c.2005G>A	c.(2005-2007)GCA>ACA	p.A669T		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	669										ovary(3)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TTGGAGTCTGCGCCAAGCTGC	0.547		NaN											0	0	0	0.006214	0	8	53				
BBS7	55212	broad.mit.edu	37	4	122782704	122782704	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:122782704T>A	uc003ied.2	-	4	470	c.296A>T	c.(295-297)CAG>CTG	p.Q99L	BBS7_uc003iee.1_Missense_Mutation_p.Q99L|BBS7_uc010inq.1_Missense_Mutation_p.Q55L	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	99					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1						GGAGAGGAACTGTTTTCCTCT	0.353		NaN							Bardet-Biedl_syndrome				0	0	0	0.006122	0	14	57				
KIAA1109	84162	broad.mit.edu	37	4	123122253	123122253	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:123122253C>T	uc003ieh.2	+	13	1515	c.1470C>T	c.(1468-1470)TTC>TTT	p.F490F	KIAA1109_uc003iei.1_Silent_p.F244F|KIAA1109_uc010ins.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	490					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CTTACCACTTCATCTTTGCAC	0.358		NaN											0	0	0	0.001168	0	4	72				
ADAD1	132612	broad.mit.edu	37	4	123317468	123317468	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:123317468A>G	uc003ieo.2	+	7	892	c.660A>G	c.(658-660)CTA>CTG	p.L220L	ADAD1_uc003iep.2_Silent_p.L220L|ADAD1_uc003ieq.2_Silent_p.L202L	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	220					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						TTAATCAACTAATTTCTAATC	0.284		NaN											0	0	0	0.008291	0	8	61				
LARP1B	55132	broad.mit.edu	37	4	129043216	129043216	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:129043216G>C	uc003iga.2	+	11	1528	c.1397G>C	c.(1396-1398)CGA>CCA	p.R466P	LARP1B_uc003igc.2_5'UTR|LARP1B_uc003ifz.1_Missense_Mutation_p.R466P|LARP1B_uc003igb.1_Missense_Mutation_p.R181P	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family member 2	466							RNA binding				0						GGAGGAGATCGAACAGGCACC	0.368		NaN											0	0	0	0.00278	0	19	114				
PCDH18	54510	broad.mit.edu	37	4	138452557	138452557	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:138452557G>A	uc003ihe.3	-	1	1073	c.686C>T	c.(685-687)TCA>TTA	p.S229L	PCDH18_uc003ihf.3_Missense_Mutation_p.S222L|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.S9L|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	229	Extracellular (Potential).|Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					TAGTATGGATGAGCCAGACCT	0.463		NaN											0	0	0	0.001168	0	6	85				
SFRP2	6423	broad.mit.edu	37	4	154709870	154709870	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:154709870A>T	uc003inv.1	-	1	359	c.118T>A	c.(118-120)TGC>AGC	p.C40S		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2 precursor	40	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.093)	Renal(120;0.117)				ATGGGCTTGCAATTGCTGCGC	0.637		NaN											0	0	0	0.001855	0	8	108				
FNIP2	57600	broad.mit.edu	37	4	159782529	159782529	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:159782529T>C	uc003iqe.3	+	11	1367	c.1184T>C	c.(1183-1185)ATA>ACA	p.I395T		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	395					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GTTCCAAGGATAGCTGAACCT	0.393		NaN											0	0	0	0.004672	0	3	38				
SCRG1	11341	broad.mit.edu	37	4	174312370	174312370	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:174312370C>T	uc003ite.2	-	2	609	c.196G>A	c.(196-198)GAG>AAG	p.E66K	SCRG1_uc003itf.2_RNA	NM_007281	NP_009212	O75711	SCRG1_HUMAN	stimulator of chondrogenesis 1 precursor	66					nervous system development	extracellular space					0		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		CAGATCATCTCACATCCCTTC	0.438		NaN											0	0	0	0.003163	0	11	228				
FAT1	2195	broad.mit.edu	37	4	187541336	187541336	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:187541336A>T	uc003izf.2	-	10	6592	c.6404T>A	c.(6403-6405)ATT>AAT	p.I2135N		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2135	Extracellular (Potential).|Cadherin 19.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TTTCAGTGAAATTTCACCCAA	0.423		NaN								HNSCC(5;0.00058)			0	0	0	0.007413	0	17	83				
SLC9A3	6550	broad.mit.edu	37	5	482240	482240	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:482240C>T	uc003jbe.2	-	8	1501	c.1389G>A	c.(1387-1389)CTG>CTA	p.L463L	SLC9A3_uc011clx.1_Silent_p.L454L	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	463	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TCTTCACCTTCAGCCACTGCA	0.701		NaN											0	0	0	0.010729	0	9	49				
CLPTM1L	81037	broad.mit.edu	37	5	1338993	1338993	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:1338993A>T	uc003jch.2	-	4	627	c.581T>A	c.(580-582)GTG>GAG	p.V194E	CLPTM1L_uc003jcg.2_Missense_Mutation_p.V61E	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	CLPTM1-like	194	Extracellular (Potential).				apoptosis	integral to membrane				breast(1)|central_nervous_system(1)	2	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GTACCGATGCACATCGGCAGG	0.647		NaN											0	0	0	0.00333	0	21	139				
ADCY2	108	broad.mit.edu	37	5	7817000	7817000	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:7817000C>T	uc003jdz.1	+	23	2972	c.2905C>T	c.(2905-2907)CAC>TAC	p.H969Y	ADCY2_uc011cmo.1_Missense_Mutation_p.H789Y|ADCY2_uc010itm.1_Missense_Mutation_p.H165Y	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	969	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						GCAGTACATGCACATTGGCAC	0.517		NaN									OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010504	0	20	91				
DNAH5	1767	broad.mit.edu	37	5	13901509	13901509	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:13901509T>C	uc003jfd.2	-	14	1946	c.1904A>G	c.(1903-1905)CAT>CGT	p.H635R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	635	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CTGAATCCTATGGAAGAGCTG	0.507		NaN							Kartagener_syndrome				0	0	0	0.00308	0	6	39				
KIF2A	3796	broad.mit.edu	37	5	61669661	61669661	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:61669661A>C	uc003jsy.3	+	17	2105	c.1794A>C	c.(1792-1794)CAA>CAC	p.Q598H	KIF2A_uc003jsz.3_Missense_Mutation_p.Q636H|KIF2A_uc010iwp.2_Missense_Mutation_p.Q579H|KIF2A_uc003jsx.3_Missense_Mutation_p.Q578H|KIF2A_uc010iwq.2_Missense_Mutation_p.Q401H	NM_004520	NP_004511	O00139	KIF2A_HUMAN	kinesin heavy chain member 2 isoform 1	598					blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding				0		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TTTGTGAACAAAATGTGAGTG	0.383		NaN											0	0	0	0.004007	0	13	74				
MAST4	375449	broad.mit.edu	37	5	66440574	66440574	+	Silent	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:66440574C>A	uc003jut.1	+	21	2309	c.2241C>A	c.(2239-2241)ACC>ACA	p.T747T	MAST4_uc003juu.1_Silent_p.T757T|MAST4_uc011cra.1_Silent_p.T730T|MAST4_uc003juv.2_Silent_p.T742T|MAST4_uc003juw.2_Silent_p.T742T	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	939						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCAAAAGCACCACCTTGCCAT	0.398		NaN											1	0	0.00909568	0.009096	0.00921723	4	26				
HOMER1	9456	broad.mit.edu	37	5	78692703	78692703	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:78692703T>G	uc003kfy.2	-	8	1922	c.819A>C	c.(817-819)GAA>GAC	p.E273D	HOMER1_uc010jab.2_Intron|HOMER1_uc010jac.2_Missense_Mutation_p.E143D|HOMER1_uc010jad.2_Missense_Mutation_p.E99D	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	homer 1	273	Potential.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane					0		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CATTATCAATTTCTTGTTTTA	0.348		NaN											0	0	0	0.001984	0	6	19				
ANKRD34B	340120	broad.mit.edu	37	5	79855446	79855446	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:79855446T>C	uc010jam.2	-	4	743	c.393A>G	c.(391-393)ACA>ACG	p.T131T	ANKRD34B_uc003kgw.2_Silent_p.T131T|ANKRD34B_uc010jan.2_Silent_p.T131T	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	131	ANK 4.					cytoplasm|nucleus				pancreas(1)	1		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TCAGGGTCTCTGTATCTTCTG	0.438		NaN											0	0	0	0.003954	0	23	131				
VCAN	1462	broad.mit.edu	37	5	82832894	82832894	+	Missense_Mutation	SNP	A	A	G	rs142339468		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:82832894A>G	uc003kii.3	+	8	4428	c.4072A>G	c.(4072-4074)AGT>GGT	p.S1358G	VCAN_uc003kij.3_Missense_Mutation_p.S371G|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.S22G	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1358	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGAACCTTGTAGTGAAGAAAC	0.318		NaN											0	0	0	0.010729	0	9	98				
TTC37	9652	broad.mit.edu	37	5	94845328	94845328	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:94845328A>T	uc003klb.2	-	29	3254	c.2984T>A	c.(2983-2985)CTG>CAG	p.L995Q		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	995	TPR 16.						binding			ovary(3)|pancreas(1)	4						TTCCTTTTTCAGTTGTAGATG	0.239		NaN											0	0	0	0.00308	0	6	49				
CCNI2	645121	broad.mit.edu	37	5	132083140	132083140	+	Translation_Start_Site	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:132083140A>G	uc003kxq.1	+	1	4	c.-47A>G	c.(-49--45)ATAAA>ATGAA		CCNI2_uc011cxg.1_Translation_Start_Site|CCNI2_uc011cxh.1_Translation_Start_Site	NM_001039780	NP_001034869	Q6ZMN8	CCNI2_HUMAN	cyclin I family, member 2						regulation of cyclin-dependent protein kinase activity		protein kinase binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTGGGTTATAAAATGCCGGG	0.701		NaN											0	0	0	0.004672	0	2	5				
AFF4	27125	broad.mit.edu	37	5	132228738	132228738	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:132228738G>C	uc003kyd.2	-	12	2788	c.2380C>G	c.(2380-2382)CCA>GCA	p.P794A	AFF4_uc011cxk.1_Missense_Mutation_p.P472A|AFF4_uc003kye.1_Missense_Mutation_p.P794A	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	794					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGCTGGATGGCTTATGGCCT	0.423		NaN											0	0	0	0.01441	0	65	402				
FSTL4	23105	broad.mit.edu	37	5	132552957	132552957	+	Silent	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:132552957G>T	uc003kyn.1	-	13	1790	c.1572C>A	c.(1570-1572)GTC>GTA	p.V524V	FSTL4_uc003kym.1_Silent_p.V173V	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	524						extracellular region	calcium ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGACCACAAGGACTCTGCTCA	0.507		NaN											1	0	2.79863e-10	0.004656	3.061e-10	19	102				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139917005	139917005	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:139917005A>G	uc003lfs.1	+	31	7183	c.7059A>G	c.(7057-7059)CCA>CCG	p.P2353P	ANKHD1_uc003lfr.2_Silent_p.P2353P|ANKHD1-EIF4EBP3_uc011czh.1_Silent_p.P1109P|ANKHD1_uc003lfw.2_Silent_p.P1008P|ANKHD1_uc010jfl.2_Silent_p.P729P|ANKHD1-EIF4EBP3_uc003lfx.1_Silent_p.P507P	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2353						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCCAACCAAAAGGAGTCA	0.522		NaN											0	0	0	0.006999	0	35	149				
PCDHA10	56139	broad.mit.edu	37	5	140236270	140236270	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:140236270G>A	uc003lhx.2	+	1	637	c.637G>A	c.(637-639)GCA>ACA	p.A213T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.A213T|PCDHA10_uc011dad.1_Missense_Mutation_p.A213T	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	213	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGTTGACAGCAACTGATGG	0.423		NaN											0	0	0	0.00333	0	21	143				
PCDHB7	56129	broad.mit.edu	37	5	140552984	140552984	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:140552984A>G	uc003lit.2	+	1	742	c.568A>G	c.(568-570)ATC>GTC	p.I190V		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	190	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGGGGAATATCTATCCCGA	0.488		NaN											0	0	0	0.007413	0	16	66				
PCDHGA7	56108	broad.mit.edu	37	5	140764040	140764040	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:140764040T>A	uc003lka.1	+	1	1574	c.1574T>A	c.(1573-1575)TTG>TAG	p.L525*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Nonsense_Mutation_p.L525*	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	525	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGAGCAGTTGAGAGAACTA	0.532		NaN											0	0	0	0.000602	0	5	67				
CSNK1A1	1452	broad.mit.edu	37	5	148929685	148929685	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:148929685G>T	uc003lqx.1	-	2	663	c.183C>A	c.(181-183)AGC>AGA	p.S61R	CSNK1A1_uc011dcc.1_5'UTR|CSNK1A1_uc003lqv.1_5'UTR|CSNK1A1_uc003lqw.1_Missense_Mutation_p.S61R|CSNK1A1_uc003lqy.1_Missense_Mutation_p.S61R|CSNK1A1_uc010jha.1_Missense_Mutation_p.S61R	NM_001892	NP_001883	P48729	KC1A_HUMAN	casein kinase 1, alpha 1 isoform 2	61	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein binding|protein serine/threonine kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TATAGAGCTTGCTCTCGTACA	0.542		NaN											1	0	6.94344e-10	0.006122	7.54002e-10	14	167				
RMND5B	64777	broad.mit.edu	37	5	177573138	177573138	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:177573138C>T	uc003mim.2	+	8	898	c.718C>T	c.(718-720)CTG>TTG	p.L240L	RMND5B_uc003min.2_Silent_p.L240L|RMND5B_uc003mio.2_Silent_p.L227L|RMND5B_uc003mip.2_Silent_p.L240L|RMND5B_uc011dgf.1_Silent_p.L281L|RMND5B_uc003miq.2_Silent_p.L180L	NM_022762	NP_073599	Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog	240										ovary(1)|skin(1)	2	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGGGCAGCCTGGTGTACCT	0.642		NaN									OREG0017097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006214	0	7	48				
AGXT2L2	85007	broad.mit.edu	37	5	177640080	177640080	+	Silent	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:177640080C>G	uc003miz.2	-	11	1449	c.1197G>C	c.(1195-1197)CTG>CTC	p.L399L	AGXT2L2_uc003miy.2_Silent_p.L124L|AGXT2L2_uc003mjc.2_Silent_p.L358L|AGXT2L2_uc003mja.2_Intron|AGXT2L2_uc003mjb.2_Silent_p.L124L|AGXT2L2_uc003mjd.1_Silent_p.L257L	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	alanine-glyoxylate aminotransferase 2-like 2	399						mitochondrion	pyridoxal phosphate binding|transaminase activity			pancreas(1)	1	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CATCAGTGCTCAGCAAAACGT	0.567		NaN											0	0	0	0.008291	0	7	101				
ADAMTS2	9509	broad.mit.edu	37	5	178552080	178552080	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:178552080G>T	uc003mjw.2	-	19	2852	c.2852C>A	c.(2851-2853)ACC>AAC	p.T951N		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	951	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CACGGAGCGGGTGGTGTTGTC	0.697		NaN											1	0	4.06502e-11	0.013114	4.45683e-11	38	220				
DSP	1832	broad.mit.edu	37	6	7586077	7586077	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:7586077C>A	uc003mxp.1	+	24	8861	c.8582C>A	c.(8581-8583)TCC>TAC	p.S2861Y	DSP_uc003mxq.1_Missense_Mutation_p.S2262Y	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2861	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACTCTTATTCCTACTCATTT	0.313		NaN											1	0	5.3912e-06	0.006122	5.67824e-06	13	172				
SNRNP48	154007	broad.mit.edu	37	6	7602960	7602960	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:7602960A>G	uc003mxr.2	+	6	759	c.700A>G	c.(700-702)AAG>GAG	p.K234E	SNRNP48_uc003mxs.2_RNA|SNRNP48_uc003mxt.1_5'UTR	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	U11/U12 snRNP 48K	234					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding				0						TCACATAACCAAGAAATCATA	0.333		NaN											0	0	0	0.00308	0	6	47				
SLC35B3	51000	broad.mit.edu	37	6	8422784	8422784	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:8422784C>A	uc010joe.2	-	5	659	c.493G>T	c.(493-495)GGC>TGC	p.G165C	SLC35B3_uc003mya.2_Missense_Mutation_p.G133C|SLC35B3_uc003myc.2_Intron|SLC35B3_uc003myb.2_Missense_Mutation_p.G165C|SLC35B3_uc011did.1_Missense_Mutation_p.G165C|SLC35B3_uc003myd.2_RNA	NM_001142541	NP_001136013	Q9H1N7	S35B3_HUMAN	solute carrier family 35, member B3	165	Helical; (Potential).				transmembrane transport	Golgi membrane|integral to membrane					0	Ovarian(93;0.0569)					TTCAGGTAGCCCAAGGAAGTG	0.358		NaN											1	0	4.35082e-09	0.010504	4.67996e-09	16	66				
HIST1H4I	8294	broad.mit.edu	37	6	27107349	27107349	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:27107349G>T	uc003niy.1	+	1	262	c.262G>T	c.(262-264)GTC>TTC	p.V88F	HIST1H2BK_uc003nix.1_Intron	NM_003495	NP_003486	P62805	H4_HUMAN	histone cluster 1, H4i	88					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						CATGGACGTGGTCTACGCGCT	0.602		NaN	T	BCL6	NHL								1	0	1.05317e-09	0.00245	1.14093e-09	10	88				
PGBD1	84547	broad.mit.edu	37	6	28269267	28269267	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:28269267G>A	uc003nky.2	+	7	2006	c.1636G>A	c.(1636-1638)GAT>AAT	p.D546N	PGBD1_uc003nkz.2_Missense_Mutation_p.D546N	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	546					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						CTATTGCTTTGATAAGTCAAT	0.348		NaN											0	0	0	0.006122	0	17	144				
PGBD1	84547	broad.mit.edu	37	6	28269301	28269301	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:28269301A>G	uc003nky.2	+	7	2040	c.1670A>G	c.(1669-1671)CAA>CGA	p.Q557R	PGBD1_uc003nkz.2_Missense_Mutation_p.Q557R	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	557					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						GATAGTGACCAATTCCTGAAT	0.363		NaN											0	0	0	0.00245	0	14	116				
MDC1	9656	broad.mit.edu	37	6	30680687	30680687	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:30680687G>A	uc003nrg.3	-	5	1472	c.1032C>T	c.(1030-1032)GTC>GTT	p.V344V	MDC1_uc003nrf.3_5'UTR|MDC1_uc011dmp.1_Silent_p.V216V|MDC1_uc003nrh.1_Silent_p.V216V|MDC1_uc003nri.2_Silent_p.V344V	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	344	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						TCATAGGAATGACAACTGGGG	0.547		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.006122	0	18	113				
IP6K3	117283	broad.mit.edu	37	6	33690810	33690810	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:33690810C>T	uc010jvf.2	-	7	1456	c.920G>A	c.(919-921)CGG>CAG	p.R307Q	IP6K3_uc003ofb.2_Missense_Mutation_p.R307Q	NM_001142883	NP_001136355	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	307					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity				0						GAGGAGGGCCCGGAGCTGGTG	0.552		NaN											0	0	0	0.00245	0	12	54				
KCNK5	8645	broad.mit.edu	37	6	39159465	39159465	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:39159465C>A	uc003oon.2	-	5	1065	c.701G>T	c.(700-702)GGG>GTG	p.G234V		NM_003740	NP_003731	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	234	Helical; (Potential).				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						CCAGGCCAGCCCCAAGTAGAT	0.577		NaN											1	0	1.10923e-09	0.00278	1.19881e-09	22	180				
CUL9	23113	broad.mit.edu	37	6	43152278	43152278	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:43152278C>T	uc003ouk.2	+	2	305	c.230C>T	c.(229-231)CCT>CTT	p.P77L	CUL9_uc003ouj.1_Missense_Mutation_p.P77L|CUL9_uc003oul.2_Missense_Mutation_p.P77L|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	77					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GCCAACTGCCCTGGGCTGTTA	0.572		NaN											0	0	0	0.00308	0	6	91				
C6orf138	442213	broad.mit.edu	37	6	47846771	47846771	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:47846771G>C	uc011dwm.1	-	3	1843	c.1758C>G	c.(1756-1758)ATC>ATG	p.I586M	C6orf138_uc011dwn.1_Missense_Mutation_p.I350M	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	603						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1						GAGAAGCAATGATATTGCTTT	0.433		NaN											0	0	0	0.001168	0	6	53				
MUT	4594	broad.mit.edu	37	6	49416588	49416588	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:49416588C>T	uc003ozg.3	-	7	1640	c.1385G>A	c.(1384-1386)GGA>GAA	p.G462E		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	462					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)	TTTAGGTATTCCCTCAGCTAC	0.333		NaN											0	0	0	0.014323	0	16	227				
PKHD1	5314	broad.mit.edu	37	6	51612779	51612779	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:51612779A>G	uc003pah.1	-	58	9911	c.9635T>C	c.(9634-9636)TTT>TCT	p.F3212S	PKHD1_uc010jzn.1_Missense_Mutation_p.F1195S|PKHD1_uc003pai.2_Missense_Mutation_p.F3212S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3212	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					AATGCAGTCAAAAGAAGAGCT	0.448		NaN											0	0	0	0.00333	0	22	128				
PKHD1	5314	broad.mit.edu	37	6	51824704	51824704	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:51824704T>A	uc003pah.1	-	36	6148	c.5872A>T	c.(5872-5874)ACT>TCT	p.T1958S	PKHD1_uc003pai.2_Missense_Mutation_p.T1958S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1958	Extracellular (Potential).|G8 1.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CTTGTGTTAGTGTCCAGCAGA	0.463		NaN									OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.014323	0	18	210				
PKHD1	5314	broad.mit.edu	37	6	51824706	51824706	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:51824706T>C	uc003pah.1	-	36	6146	c.5870A>G	c.(5869-5871)GAC>GGC	p.D1957G	PKHD1_uc003pai.2_Missense_Mutation_p.D1957G	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1957	Extracellular (Potential).|G8 1.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TGTGTTAGTGTCCAGCAGAAG	0.453		NaN									OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.014323	0	16	210				
FIG4	9896	broad.mit.edu	37	6	110106228	110106228	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:110106228G>A	uc003ptt.2	+	17	2160	c.1945G>A	c.(1945-1947)GAA>AAA	p.E649K	FIG4_uc011eau.1_Missense_Mutation_p.E372K	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	649					cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GCCCTATGATGAAGGTAGGTA	0.289		NaN											0	0	0	0.00278	0	18	183				
MAN1A1	4121	broad.mit.edu	37	6	119669755	119669755	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:119669755T>C	uc003pym.1	-	2	918	c.476A>G	c.(475-477)CAG>CGG	p.Q159R	MAN1A1_uc010kei.1_Missense_Mutation_p.Q159R	NM_005907	NP_005898	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	159	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		CAGCTGGTCCTGGGCCACCTT	0.652		NaN											0	0	0	0.008291	0	9	97				
HSF2	3298	broad.mit.edu	37	6	122733867	122733867	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:122733867C>G	uc003pyu.2	+	3	475	c.288C>G	c.(286-288)TTC>TTG	p.F96L	HSF2_uc003pyt.3_Missense_Mutation_p.F96L|HSF2_uc003pyv.2_Missense_Mutation_p.F96L	NM_004506	NP_004497	Q03933	HSF2_HUMAN	heat shock transcription factor 2 isoform a	96	By similarity.				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		ATCCTTACTTCAAACAAGGAC	0.398		NaN											0	0	0	0.001984	0	7	133				
CTGF	1490	broad.mit.edu	37	6	132270442	132270442	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:132270442A>G	uc003qcz.2	-	5	1218	c.1012T>C	c.(1012-1014)TCG>CCG	p.S338P		NM_001901	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor precursor	338	Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding				0	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		TAGTACAGCGATTCAAAGATG	0.453		NaN											0	0	0	0.00499	0	14	109				
AHI1	54806	broad.mit.edu	37	6	135787429	135787429	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:135787429T>C	uc003qgi.2	-	7	656	c.272A>G	c.(271-273)AAG>AGG	p.K91R	AHI1_uc003qgh.2_Missense_Mutation_p.K91R|AHI1_uc003qgj.2_Missense_Mutation_p.K91R|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.K91R	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	91						adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CGTGCTCTTCTTCAGGTTGTT	0.393		NaN											0	0	0	0.007291	0	27	229				
TNFAIP3	7128	broad.mit.edu	37	6	138198260	138198260	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:138198260G>A	uc003qhr.2	+	6	919	c.853G>A	c.(853-855)GAC>AAC	p.D285N	TNFAIP3_uc003qhs.2_Missense_Mutation_p.D285N	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	285	TRAF-binding.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(22)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		AAGATTTGAAGACTTAAAAGT	0.373		NaN	D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma								0	0	0	0.010729	0	11	98				
PLEKHG1	57480	broad.mit.edu	37	6	151152027	151152027	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:151152027G>A	uc003qny.1	+	16	2092	c.1780G>A	c.(1780-1782)GAG>AAG	p.E594K	PLEKHG1_uc011eel.1_Missense_Mutation_p.E634K|PLEKHG1_uc011eem.1_Missense_Mutation_p.E653K|PLEKHG1_uc003qnz.2_Missense_Mutation_p.E594K	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	594					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GGGACAGATGGAGTCCACAGA	0.532		NaN											0	0	0	0.006214	0	7	131				
SYNJ2	8871	broad.mit.edu	37	6	158516772	158516772	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:158516772A>G	uc003qqx.1	+	27	3942	c.3867A>G	c.(3865-3867)CCA>CCG	p.P1289P	SYNJ2_uc003qqy.1_Silent_p.P1002P|SYNJ2_uc003qqz.1_Silent_p.P906P|SYNJ2_uc003qra.1_Silent_p.P632P|SYNJ2_uc010kjp.1_Silent_p.P172P	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	1289	Catalytic (By similarity).|Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TTCCCAAACCAAGAACATTTC	0.597		NaN											0	0	0	0.008291	0	10	52				
MAP3K4	4216	broad.mit.edu	37	6	161470322	161470322	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:161470322C>G	uc003qtn.2	+	3	1160	c.1018C>G	c.(1018-1020)CAT>GAT	p.H340D	MAP3K4_uc010kkc.1_Missense_Mutation_p.H340D|MAP3K4_uc003qto.2_Missense_Mutation_p.H340D|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	340					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTACTCAACACATCATGAGCA	0.453		NaN											0	0	0	0.004482	0	7	73				
MAP3K4	4216	broad.mit.edu	37	6	161470565	161470565	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:161470565G>C	uc003qtn.2	+	3	1403	c.1261G>C	c.(1261-1263)GAC>CAC	p.D421H	MAP3K4_uc010kkc.1_Missense_Mutation_p.D421H|MAP3K4_uc003qto.2_Missense_Mutation_p.D421H|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	421					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GAATTTATCAGACATTGGCTG	0.438		NaN											0	0	0	0.006214	0	8	71				
SNX8	29886	broad.mit.edu	37	7	2311576	2311576	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:2311576C>G	uc003slw.2	-	4	492	c.449G>C	c.(448-450)AGA>ACA	p.R150T		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	150	PX.				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CTTCAGGGCTCTCCTCCTGGC	0.637		NaN											0	0	0	0.009096	0	4	59				
CREB5	9586	broad.mit.edu	37	7	28858795	28858795	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:28858795C>A	uc003szq.2	+	11	1816	c.1426C>A	c.(1426-1428)CAT>AAT	p.H476N	CREB5_uc003szo.2_Missense_Mutation_p.H443N|CREB5_uc003szr.2_Missense_Mutation_p.H469N|CREB5_uc003szs.2_Missense_Mutation_p.H337N	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	476					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						AGTCATCCAGCATAATACCAT	0.502		NaN											1	0	9.64103e-21	0.01441	1.09667e-20	60	247				
ANLN	54443	broad.mit.edu	37	7	36445999	36445999	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:36445999G>T	uc003tff.2	+	4	901	c.697G>T	c.(697-699)GCT>TCT	p.A233S	ANLN_uc011kaz.1_Missense_Mutation_p.A145S|ANLN_uc003tfg.2_Missense_Mutation_p.A233S|ANLN_uc010kxe.2_Missense_Mutation_p.A233S	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	233	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3						GCCTGGTACCGCTTGTTTATC	0.458		NaN											1	0	4.7546e-09	0.004007	5.10223e-09	17	67				
ELMO1	9844	broad.mit.edu	37	7	37311474	37311474	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:37311474A>T	uc003tfk.1	-	5	513	c.206T>A	c.(205-207)ATA>AAA	p.I69K	ELMO1_uc011kbc.1_5'UTR|ELMO1_uc010kxg.1_Missense_Mutation_p.I69K	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	69					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						GCCATTTTTTATCTCATTGCG	0.353		NaN											0	0	0	0.004482	0	6	107				
HUS1	3364	broad.mit.edu	37	7	48015279	48015279	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:48015279A>G	uc003tod.1	-	5	601	c.471T>C	c.(469-471)AGT>AGC	p.S157S	HUS1_uc003toe.1_Silent_p.S157S|HUS1_uc011kce.1_RNA	NM_004507	NP_004498	O60921	HUS1_HUMAN	HUS1 checkpoint protein	157					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			ovary(2)|lung(2)|kidney(1)	5		Breast(660;0.00139)				GTAAATAAATACTAACCTACA	0.318		NaN						Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					0	0	0	0.00308	0	6	32				
EGFR	1956	broad.mit.edu	37	7	55214318	55214318	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:55214318G>A	uc003tqk.2	+	4	690	c.444G>A	c.(442-444)GTG>GTA	p.V148V	EGFR_uc003tqh.2_Silent_p.V148V|EGFR_uc003tqi.2_Silent_p.V148V|EGFR_uc003tqj.2_Silent_p.V148V|EGFR_uc010kzg.1_Intron|EGFR_uc011kco.1_Silent_p.V95V	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	148	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATGGCGCCGTGCGGTTCAGCA	0.532		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			0	0	0	0.006122	0	15	102				
POR	5447	broad.mit.edu	37	7	75615697	75615697	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:75615697C>A	uc003udy.2	+	16	2023	c.1941C>A	c.(1939-1941)TAC>TAA	p.Y647*	POR_uc011kgc.1_Nonsense_Mutation_p.Y455*|POR_uc011kgd.1_Missense_Mutation_p.T553K|POR_uc011kge.1_Nonsense_Mutation_p.Y385*|POR_uc003uea.2_Nonsense_Mutation_p.Y134*	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	644					cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	ACACCTTCTACGACATCGTGG	0.632		NaN											1	0	1.55795e-14	0.012319	1.72894e-14	17	88				
RSBN1L	222194	broad.mit.edu	37	7	77326204	77326204	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:77326204C>T	uc010ldt.1	+	1	462	c.418C>T	c.(418-420)CAC>TAC	p.H140Y	RSBN1L_uc003ugm.2_5'Flank|uc003ugj.1_RNA	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	140						nucleus				ovary(1)	1						CGCTCAGCCTCACCATCTCCT	0.682		NaN											0	0	0	0.004482	0	6	51				
PCLO	27445	broad.mit.edu	37	7	82579040	82579040	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:82579040C>T	uc003uhx.2	-	6	11153	c.10864G>A	c.(10864-10866)GTC>ATC	p.V3622I	PCLO_uc003uhv.2_Missense_Mutation_p.V3622I|PCLO_uc010lec.2_Missense_Mutation_p.V587I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3553					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GAGTAAAGGACTTTGGGGGAT	0.478		NaN											0	0	0	0.006122	0	18	99				
PCLO	27445	broad.mit.edu	37	7	82579271	82579271	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:82579271C>T	uc003uhx.2	-	6	10922	c.10633G>A	c.(10633-10635)GCC>ACC	p.A3545T	PCLO_uc003uhv.2_Missense_Mutation_p.A3545T|PCLO_uc010lec.2_Missense_Mutation_p.A510T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3476					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TCTACCTTGGCATCCACTCGT	0.443		NaN											0	0	0	0.004482	0	8	57				
CDK14	5218	broad.mit.edu	37	7	90528655	90528655	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:90528655C>T	uc003uky.2	+	7	911	c.689C>T	c.(688-690)CCA>CTA	p.P230L	CDK14_uc003ukz.1_Missense_Mutation_p.P212L|CDK14_uc010les.1_Missense_Mutation_p.P184L|CDK14_uc011khl.1_Missense_Mutation_p.P101L	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	230	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4						GGGCTGCATCCAGATAATGTG	0.363		NaN											0	0	0	0.00499	0	12	50				
FZD1	8321	broad.mit.edu	37	7	90894816	90894816	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:90894816C>T	uc003ula.2	+	1	1034	c.621C>T	c.(619-621)TTC>TTT	p.F207F		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	207	FZ.|Extracellular (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			AGTTCGGCTTCCAGTGGCCAG	0.701		NaN											0	0	0	0.00499	0	15	75				
KRIT1	889	broad.mit.edu	37	7	91855114	91855114	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:91855114G>C	uc003ulq.1	-	10	1345	c.1174C>G	c.(1174-1176)CCA>GCA	p.P392A	KRIT1_uc010lev.1_Intron|KRIT1_uc003ulr.1_Missense_Mutation_p.P392A|KRIT1_uc003uls.1_Missense_Mutation_p.P392A|KRIT1_uc003ult.1_Missense_Mutation_p.P344A|KRIT1_uc003ulu.1_Missense_Mutation_p.P392A|KRIT1_uc003ulv.1_Missense_Mutation_p.P392A	NM_194456	NP_919438	O00522	KRIT1_HUMAN	krev interaction trapped 1 isoform 1	392	ANK 4.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			ovary(2)|lung(1)	3	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATATTTAATGGAGATCTTCCT	0.348		NaN							Familial_Cerebral_Cavernous_Angioma				0	0	0	0.008291	0	11	87				
GPC2	221914	broad.mit.edu	37	7	99771457	99771457	+	Splice_Site	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:99771457C>A	uc003utv.2	-	5	1060	c.892_splice	c.e5+1	p.D298_splice	GPC2_uc010lgr.2_Intron|GPC2_uc003utw.1_3'UTR	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	glypican 2 precursor							anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|pancreas(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AATCCCCTCACCCAGATAGTT	0.378		NaN											1	0	3.13765e-25	0.01441	3.59605e-25	56	628				
CUX1	1523	broad.mit.edu	37	7	101882763	101882763	+	Silent	SNP	G	G	T	rs140169027		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:101882763G>T	uc003uyx.3	+	23	3824	c.3786G>T	c.(3784-3786)GCG>GCT	p.A1262A	CUX1_uc003uys.3_Silent_p.A1273A|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	1262	Homeobox.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						TGAAACGAGCGTATCAGCAAA	0.597		NaN											1	0	2.61193e-14	0.009535	2.88454e-14	28	87				
LAMB4	22798	broad.mit.edu	37	7	107706844	107706844	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:107706844C>A	uc010ljo.1	-	20	2732	c.2648G>T	c.(2647-2649)GGA>GTA	p.G883V	LAMB4_uc003vey.2_Missense_Mutation_p.G883V|LAMB4_uc010ljp.1_5'Flank	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	883	Laminin EGF-like 8.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						TGTAAAGCCTCCACAATTGAA	0.428		NaN											1	0	1.12685e-05	0.004482	1.17866e-05	7	49				
LMOD2	442721	broad.mit.edu	37	7	123302814	123302814	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:123302814T>C	uc003vky.2	+	2	1331	c.1174T>C	c.(1174-1176)TCT>CCT	p.S392P		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	392	Pro-rich.					cytoskeleton	actin binding|tropomyosin binding				0						ACCTTATGTATCTCCCAGGCA	0.488		NaN											0	0	0	0.001855	0	13	90				
IRF5	3663	broad.mit.edu	37	7	128586051	128586051	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:128586051G>C	uc003vog.2	+	3	469	c.348G>C	c.(346-348)AAG>AAC	p.K116N	IRF5_uc010llr.1_Missense_Mutation_p.K116N|IRF5_uc011kot.1_Missense_Mutation_p.K116N|IRF5_uc011kou.1_Missense_Mutation_p.K116N|IRF5_uc010lls.1_Missense_Mutation_p.K116N|IRF5_uc003voh.2_Missense_Mutation_p.K116N|IRF5_uc010llt.2_Missense_Mutation_p.K116N|IRF5_uc003voi.2_Missense_Mutation_p.K116N|IRF5_uc010llu.1_Missense_Mutation_p.K116N|IRF5_uc003vok.2_Missense_Mutation_p.K116N|IRF5_uc003voj.3_Missense_Mutation_p.K116N|IRF5_uc010llv.1_Missense_Mutation_p.K116N|IRF5_uc010llw.1_Missense_Mutation_p.K116N	NM_002200	NP_002191	Q13568	IRF5_HUMAN	interferon regulatory factor 5 isoform a	116	IRF tryptophan pentad repeat.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						AGCCCTACAAGATCTACGAGG	0.637		NaN											0	0	0	0.004482	0	6	71				
CPA2	1358	broad.mit.edu	37	7	129929559	129929559	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:129929559T>C	uc003vpq.2	+	11	1251	c.1232T>C	c.(1231-1233)ATG>ACG	p.M411T		NM_001869	NP_001860	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic) precursor	411					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					AAGGCAATCATGGAGCATGTG	0.522		NaN											0	0	0	0.012213	0	29	124				
TMUB1	83590	broad.mit.edu	37	7	150779465	150779465	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:150779465C>A	uc003wjb.2	-	1	301	c.186G>T	c.(184-186)ATG>ATT	p.M62I	FASTK_uc003wiw.1_5'Flank|FASTK_uc003wix.1_5'Flank|FASTK_uc003wiy.1_5'Flank|FASTK_uc003wiz.1_5'Flank|FASTK_uc003wja.1_5'Flank|TMUB1_uc003wjc.2_Missense_Mutation_p.M62I|TMUB1_uc003wjd.2_Missense_Mutation_p.M62I	NM_031434	NP_113622	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain	62						cytoplasm|integral to membrane|nucleus					0			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCCCCTCTCATGCTGTCGG	0.687		NaN											1	0	3.7963e-18	0.00333	4.26498e-18	20	134				
MLL3	58508	broad.mit.edu	37	7	151919766	151919766	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:151919766A>G	uc003wla.2	-	21	3544	c.3325T>C	c.(3325-3327)TGG>CGG	p.W1109R	MLL3_uc003wkz.2_Missense_Mutation_p.W170R	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1109	PHD-type 6.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCATGCATCCATCTAAAAAGA	0.348		NaN	N		medulloblastoma								0	0	0	0.001984	0	6	33		Valid		
RP1L1	94137	broad.mit.edu	37	8	10466033	10466033	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr8:10466033C>T	uc003wtc.2	-	4	5804	c.5575G>A	c.(5575-5577)GAT>AAT	p.D1859N		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1859					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TCCTGGGCATCCCCTTCTGCC	0.627		NaN											0	0	0	0.006122	0	14	323				
SDR16C5	195814	broad.mit.edu	37	8	57228822	57228822	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr8:57228822C>T	uc003xsy.1	-	2	723	c.85G>A	c.(85-87)GCC>ACC	p.A29T	SDR16C5_uc010lyk.1_Missense_Mutation_p.A29T|SDR16C5_uc010lyl.1_Missense_Mutation_p.A29T	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	epidermal retinal dehydrogenase 2	29	Helical; (Potential).				detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GGGAGTAAGGCAAAAATCATA	0.458		NaN											0	0	0	0.003954	0	19	65				
MTDH	92140	broad.mit.edu	37	8	98703239	98703239	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr8:98703239G>C	uc003yhz.2	+	6	1199	c.871G>C	c.(871-873)GTA>CTA	p.V291L	MTDH_uc010mbf.2_RNA	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	metadherin	291	Cytoplasmic (Potential).				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			liver(1)|central_nervous_system(1)	2	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TGAAAAGTCTGTAAAACTCTC	0.418		NaN											0	0	0	0.00308	0	6	60				
ZNF250	58500	broad.mit.edu	37	8	146108216	146108216	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr8:146108216C>T	uc003zeq.3	-	6	484	c.367G>A	c.(367-369)GAA>AAA	p.E123K	COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Missense_Mutation_p.E118K|ZNF250_uc010mgg.2_Missense_Mutation_p.E118K	NM_021061	NP_066405	P15622	ZN250_HUMAN	zinc finger protein 250 isoform a	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		CCCTTGGTTTCACATTCTGAA	0.413		NaN											0	0	0	0.001855	0	11	167				
VPS13A	23230	broad.mit.edu	37	9	79960014	79960014	+	Silent	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:79960014C>G	uc004akr.2	+	52	7505	c.7245C>G	c.(7243-7245)CTC>CTG	p.L2415L	VPS13A_uc004akp.3_Silent_p.L2415L|VPS13A_uc004akq.3_Silent_p.L2415L|VPS13A_uc004aks.2_Silent_p.L2376L	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2415					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						CTACATTCCTCTTAATAAATC	0.343		NaN											0	0	0	0.004007	0	14	131				
C9orf102	375748	broad.mit.edu	37	9	98691012	98691012	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:98691012G>A	uc004avt.3	+	11	2038	c.1650G>A	c.(1648-1650)GTG>GTA	p.V550V	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Silent_p.V252V|C9orf102_uc010mry.1_Silent_p.V252V|C9orf102_uc010mrz.2_Silent_p.V361V|C9orf102_uc004avu.2_5'UTR	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	550	Helicase C-terminal.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				TGCTTGACGTGCTACAGCAGT	0.393		NaN											0	0	0	0.007291	0	22	103				
C9orf156	51531	broad.mit.edu	37	9	100667070	100667070	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:100667070G>A	uc004axv.1	-	5	1348	c.1271C>T	c.(1270-1272)TCT>TTT	p.S424F	C9orf156_uc004axw.1_Missense_Mutation_p.S321F|C9orf156_uc004axx.1_Missense_Mutation_p.S278F	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN	Nef associated protein 1	424					interspecies interaction between organisms		hydrolase activity				0		Acute lymphoblastic leukemia(62;0.158)				AACAGGCTCAGAAGCCGGCTT	0.502		NaN											0	0	0	0.00245	0	14	109				
PTPN3	5774	broad.mit.edu	37	9	112151539	112151539	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:112151539A>G	uc004bed.2	-	22	2339	c.2227T>C	c.(2227-2229)TTG>CTG	p.L743L	PTPN3_uc004beb.2_Silent_p.L612L|PTPN3_uc004bec.2_Silent_p.L567L|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.L698L|PTPN3_uc011lwh.1_Silent_p.L589L|PTPN3_uc011lwd.1_Silent_p.L211L|PTPN3_uc011lwe.1_Silent_p.L456L|PTPN3_uc011lwf.1_Silent_p.L411L	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	743	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						AGAGTCGTCAACATGACAATG	0.502		NaN											0	0	0	0.010729	0	9	74				
PTPN3	5774	broad.mit.edu	37	9	112189306	112189306	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:112189306G>A	uc004bed.2	-	12	1037	c.925C>T	c.(925-927)CAG>TAG	p.Q309*	PTPN3_uc004beb.2_Nonsense_Mutation_p.Q178*|PTPN3_uc004bec.2_Nonsense_Mutation_p.Q178*|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Nonsense_Mutation_p.Q309*|PTPN3_uc011lwh.1_Nonsense_Mutation_p.Q200*|PTPN3_uc011lwe.1_Nonsense_Mutation_p.Q22*|PTPN3_uc011lwf.1_Nonsense_Mutation_p.Q22*	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	309	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						TTCTTTGCCTGAAAGAACGTA	0.448		NaN											0	0	0	0.001984	0	6	104				
OR1L1	26737	broad.mit.edu	37	9	125424441	125424441	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:125424441C>A	uc011lza.1	+	1	597	c.597C>A	c.(595-597)TTC>TTA	p.F199L		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L,	199	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						TTCTCTCCTTCTGCATTCCAC	0.463		NaN											1	0	6.4685e-43	0.01441	7.45105e-43	51	373				
FUBP3	8939	broad.mit.edu	37	9	133506081	133506081	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:133506081C>T	uc004bzr.1	+	13	1292	c.1184C>T	c.(1183-1185)CCT>CTT	p.P395L	FUBP3_uc004bzs.1_Missense_Mutation_p.P308L	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	395	KH 4.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		AGGAACCCCCCTCCCAACAGC	0.587		NaN											0	0	0	0.000602	0	5	84				
SLC2A6	11182	broad.mit.edu	37	9	136337170	136337170	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:136337170G>A	uc004cee.2	-	10	1592	c.1497C>T	c.(1495-1497)CGC>CGT	p.R499R	SLC2A6_uc004cef.2_Silent_p.R437R|SLC2A6_uc004ceg.2_Silent_p.R476R	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose	499	Cytoplasmic (Potential).					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		TTCTCCCCGTGCGGAAGAAGG	0.627		NaN											0	0	0	0.001855	0	13	63				
PMPCA	23203	broad.mit.edu	37	9	139306631	139306631	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:139306631G>C	uc004chl.2	+	2	259	c.254G>C	c.(253-255)GGA>GCA	p.G85A	SDCCAG3_uc004chi.2_5'Flank|SDCCAG3_uc004chj.2_5'Flank|SDCCAG3_uc004chk.2_5'Flank|PMPCA_uc011mdy.1_Missense_Mutation_p.G85A|PMPCA_uc010nbk.2_RNA|PMPCA_uc010nbl.2_5'UTR|PMPCA_uc011mdz.1_5'UTR	NM_015160	NP_055975	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	85					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		AATAAGTTTGGACAGTTTTGT	0.423		NaN											0	0	0	0.004007	0	10	277				
DYNLT3	6990	broad.mit.edu	37	X	37705596	37705596	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:37705596C>T	uc004dds.2	-	2	172	c.46G>A	c.(46-48)GAG>AAG	p.E16K		NM_006520	NP_006511	P51808	DYLT3_HUMAN	dynein, light chain, Tctex-type 3	16					cell division|mitosis|regulation of mitotic cell cycle|transport	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|nucleus|plasma membrane	motor activity				0						TGGGCTTCCTCAGCATTGAAG	0.408		NaN											0	0	0	0.004482	0	6	21				
USP9X	8239	broad.mit.edu	37	X	41075732	41075732	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:41075732A>G	uc004dfb.2	+	35	6545	c.5912A>G	c.(5911-5913)GAG>GGG	p.E1971G	USP9X_uc004dfc.2_Missense_Mutation_p.E1971G	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1971					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						TATATATCAGAGCTTGCTATC	0.398		NaN											0	0	0	0.00632	0	24	54				
RLIM	51132	broad.mit.edu	37	X	73812092	73812092	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:73812092G>A	uc004ebu.2	-	5	1348	c.1058C>T	c.(1057-1059)ACT>ATT	p.T353I	RLIM_uc004ebw.2_Missense_Mutation_p.T353I	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	353					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						ATAGGTGACAGTGTTGTTTGG	0.468		NaN											0	0	0	0.003163	0	14	44				
BTK	695	broad.mit.edu	37	X	100617587	100617587	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:100617587T>G	uc004ehg.2	-	6	675	c.482A>C	c.(481-483)AAT>ACT	p.N161T	BTK_uc010nnn.2_Missense_Mutation_p.N161T|BTK_uc010nno.2_Missense_Mutation_p.N195T|BTK_uc004ehi.2_Missense_Mutation_p.N161T	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	161	Btk-type.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			lung(3)|central_nervous_system(2)|ovary(1)	6						GCCCATAGCATTTTTGGCTGT	0.448		NaN							Agammaglobulinemia_X-linked				0	0	0	0.01441	0	46	84				
NGFRAP1	27018	broad.mit.edu	37	X	102632754	102632754	+	Nonstop_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:102632754G>T	uc004eki.2	+	3	717	c.335G>T	c.(334-336)TGA>TTA	p.*112L	NGFRAP1_uc004ekh.2_Nonstop_Mutation_p.*102L|NGFRAP1_uc004ekj.1_Nonstop_Mutation_p.*112L	NM_206915	NP_996798	Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16)	112					apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding				0						CTTATGCCTTGACTCCTGCCA	0.418		NaN											1	0	3.09899e-07	0.004482	3.27916e-07	9	42				
RGAG1	57529	broad.mit.edu	37	X	109697168	109697168	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:109697168C>G	uc004eor.1	+	3	3569	c.3323C>G	c.(3322-3324)TCT>TGT	p.S1108C	RGAG1_uc011msr.1_Missense_Mutation_p.S1108C	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1108										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						GCATCCACCTCTCACATTAAC	0.532		NaN											0	0	0	0.003163	0	14	112				
BCORL1	63035	broad.mit.edu	37	X	129150054	129150054	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:129150054G>T	uc004evb.1	+	4	3420	c.3306G>T	c.(3304-3306)AAG>AAT	p.K1102N	BCORL1_uc010nrd.1_Missense_Mutation_p.K1004N	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1102					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						TTGCTTGCAAGAACAAGTGGC	0.577		NaN											1	0	7.76418e-22	0.005443	8.85389e-22	21	58				
AFF2	2334	broad.mit.edu	37	X	147743712	147743712	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:147743712C>G	uc004fcp.2	+	3	943	c.464C>G	c.(463-465)TCA>TGA	p.S155*	AFF2_uc004fco.2_Nonsense_Mutation_p.S151*|AFF2_uc004fcq.2_Nonsense_Mutation_p.S151*|AFF2_uc004fcr.2_Nonsense_Mutation_p.S151*|AFF2_uc011mxb.1_Nonsense_Mutation_p.S155*|AFF2_uc004fcs.2_Nonsense_Mutation_p.S151*	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	155					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					AACAGAAAATCAAAACCTGAG	0.463		NaN											0	0	0	0.00333	0	23	173				
L1CAM	3897	broad.mit.edu	37	X	153128264	153128264	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:153128264C>T	uc004fjb.2	-	28	3736	c.3628G>A	c.(3628-3630)GAT>AAT	p.D1210N	L1CAM_uc004fjc.2_Missense_Mutation_p.D1206N|L1CAM_uc010nuo.2_Missense_Mutation_p.D1201N	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	1210	Cytoplasmic (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCATAATCGGCCAGGCTG	0.597		NaN											0	0	0	0.014323	0	18	42				
ZMPSTE24	10269	broad.mit.edu	37	1	40737578	40737587	+	Frame_Shift_Del	DEL	ATCTATGCTG	ATCTATGCTG	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:40737578_40737587delATCTATGCTG	uc001cfg.2	+	6	851_860	c.640_649delATCTATGCTG	c.(640-651)ATCTATGCTGATfs	p.I214fs		NM_005857	NP_005848	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	214_217						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity				0	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TCTTGTCACAATCTATGCTGATTATATTGC	0.3		NaN											NaN	NaN	NaN	NaN	NaN	11	173	---		---	---
RPTN	126638	broad.mit.edu	37	1	152127881	152127884	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:152127881_152127884delTGTC	uc001ezs.1	-	3	1756_1759	c.1691_1694delGACA	c.(1690-1695)AGACAAfs	p.R564fs		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	564_565	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0						GCTCTGGCCTTGTCTGTCTGTCTG	0.485		NaN											NaN	NaN	NaN	NaN	NaN	7	1314	---		---	---
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254156	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:161254154_161254156delGGA	uc001gad.2	+	3	338_340	c.90_92delGGA	c.(88-93)GCGGAG>GCG	p.E35del		NM_001102566	NP_001096036	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	35											0	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAAGAAGGCGGAGGAGGAGGAG	0.488		NaN											NaN	NaN	NaN	NaN	NaN	8	287	---		---	---
HMX3	340784	broad.mit.edu	37	10	124895626	124895627	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:124895626_124895627insC	uc010quc.1	+	1	60_61	c.60_61insC	c.(58-63)CCGCCCfs	p.P20fs		NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	20_21	Pro-rich.				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity				0		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		AACCGCCGCCGCCCCCCCCACC	0.748		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
SMARCC2	6601	broad.mit.edu	37	12	56558379	56558381	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			AGG	-	AGG	AGG		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:56558379_56558381delAGG	uc001skb.2	-	27	3380_3382	c.3274_3276delCCT	c.(3274-3276)CCTdel	p.P1092del	SMARCC2_uc001skd.2_Intron|SMARCC2_uc001ska.2_Intron|SMARCC2_uc001skc.2_Intron|SMARCC2_uc010sqf.1_Intron	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	1092	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGATGGAGCAGGAGGAGGAGGA	0.591		NaN											NaN	NaN	NaN	NaN	NaN	9	76	---	Valid	---	---
PDZD9	255762	broad.mit.edu	37	16	21995741	21995750	+	Frame_Shift_Del	DEL	TTTCTTGTCG	TTTCTTGTCG	-	rs146108684	byFrequency	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:21995741_21995750delTTTCTTGTCG	uc002dka.1	-	5	764_773	c.447_456delCGACAAGAAA	c.(445-456)GACGACAAGAAAfs	p.D149fs		NM_173806	NP_776167	Q8IXQ8	PDZD9_HUMAN	hypothetical protein LOC255762	211_214										pancreas(1)	1						CCCTCACTTCTTTCTTGTCGTCTCTGTGAA	0.433		NaN											NaN	NaN	NaN	NaN	NaN	13	219	---		---	---
RICH2	9912	broad.mit.edu	37	17	12888211	12888211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:12888211delA	uc002gnr.3	+	20	2630	c.2303delA	c.(2302-2304)GAAfs	p.E768fs	RICH2_uc010vvk.1_Frame_Shift_Del_p.E768fs|RICH2_uc010vvl.1_Frame_Shift_Del_p.E762fs|RICH2_uc002gns.3_Frame_Shift_Del_p.E562fs|RICH2_uc010vvm.1_Frame_Shift_Del_p.E762fs|RICH2_uc010vvn.1_RNA	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	768					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						TCCCCTGGGGAAAGCATGTCT	0.537		NaN											NaN	NaN	NaN	NaN	NaN	11	58	---		---	---
KPTN	11133	broad.mit.edu	37	19	47984066	47984066	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:47984066delC	uc002pgy.2	-	6	654	c.550delG	c.(550-552)GAAfs	p.E184fs	KPTN_uc010xys.1_RNA	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	184					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			ovary(1)	1		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		ACGGGCTGTTCCTCAAACTGA	0.602		NaN											NaN	NaN	NaN	NaN	NaN	27	327	---		---	---
NCF4	4689	broad.mit.edu	37	22	37261076	37261080	+	Frame_Shift_Del	DEL	AGAGC	AGAGC	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:37261076_37261080delAGAGC	uc003apy.3	+	3	417_421	c.233_237delAGAGC	c.(232-237)AAGAGCfs	p.K78fs	NCF4_uc003apz.3_Frame_Shift_Del_p.K78fs	NM_000631	NP_000622	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4 isoform 1	78_79	PX.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			ovary(1)	1						CCAGACAGCAAGAGCAGTGCCCTGG	0.62		NaN											NaN	NaN	NaN	NaN	NaN	18	136	---		---	---
PBRM1	55193	broad.mit.edu	37	3	52643634	52643634	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:52643634delT	uc003des.2	-	16	2274	c.2262delA	c.(2260-2262)AAAfs	p.K754fs	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Frame_Shift_Del_p.K754fs|PBRM1_uc003der.2_Frame_Shift_Del_p.K722fs|PBRM1_uc003det.2_Frame_Shift_Del_p.K769fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.K769fs|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Frame_Shift_Del_p.K754fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.K754fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.K754fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.K754fs|PBRM1_uc003dfb.1_Frame_Shift_Del_p.K667fs|PBRM1_uc003dfa.1_Frame_Shift_Del_p.K100fs|PBRM1_uc003dfc.2_Frame_Shift_Del_p.K121fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	754					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CAAGCAGGACTTTGTGTAGAA	0.418		NaN	Mis|N|F|S|D|O		clear cell renal carcinoma|breast								NaN	NaN	NaN	NaN	NaN	8	113	---		---	---
ITIH1	3697	broad.mit.edu	37	3	52814364	52814364	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:52814364delC	uc003dfs.2	+	6	677	c.653delC	c.(652-654)GCCfs	p.A218fs	ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	218					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GAACTGGCAGCCCAAACTATC	0.527		NaN											NaN	NaN	NaN	NaN	NaN	7	41	---		---	---
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:129370576_129370578delCTG	uc003emz.3	-	7	2209_2211	c.1708_1710delCAG	c.(1708-1710)CAGdel	p.Q570del	TMCC1_uc003emy.3_In_Frame_Del_p.Q246del|TMCC1_uc011blc.1_In_Frame_Del_p.Q391del|TMCC1_uc010htg.2_In_Frame_Del_p.Q456del	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570	Potential.					integral to membrane				skin(1)	1						GCTGCACCACCTGCTGCTGCTGC	0.581		NaN											NaN	NaN	NaN	NaN	NaN	8	164	---		---	---
MFSD8	256471	broad.mit.edu	37	4	128865042	128865060	+	Frame_Shift_Del	DEL	GTCTATAATTAGACCATAA	GTCTATAATTAGACCATAA	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:128865042_128865060delGTCTATAATTAGACCATAA	uc003ifp.2	-	5	449_467	c.286_304delTTATGGTCTAATTATAGAC	c.(286-306)TTATGGTCTAATTATAGACCAfs	p.L96fs	MFSD8_uc011cgu.1_Frame_Shift_Del_p.L51fs|MFSD8_uc011cgv.1_Frame_Shift_Del_p.L96fs|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_Frame_Shift_Del_p.L51fs	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing	96_102	Cytoplasmic (Potential).				cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2						TCTTTTCTTGGTCTATAATTAGACCATAAACCAAATATA	0.402		NaN											NaN	NaN	NaN	NaN	NaN	11	109	---		---	---
TBC1D9B	23061	broad.mit.edu	37	5	179294465	179294465	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:179294465delA	uc003mlh.2	-	19	2931	c.2894delT	c.(2893-2895)TTCfs	p.F965fs	TBC1D9B_uc003mli.2_Intron|TBC1D9B_uc003mlj.2_Intron|TBC1D9B_uc003mlf.2_5'Flank|TBC1D9B_uc003mlg.2_Intron|TBC1D9B_uc011dgv.1_Intron|TBC1D9B_uc011dgw.1_Frame_Shift_Del_p.F235fs	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	965						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGGCAGGAAAAGATCCAG	0.597		NaN											NaN	NaN	NaN	NaN	NaN	5	9	---		---	---
ZNF318	24149	broad.mit.edu	37	6	43305708	43305708	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:43305708delC	uc003oux.2	-	10	6106	c.6028delG	c.(6028-6030)GAGfs	p.E2010fs	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2010					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCAGTAAGCTCCTCTACCTTT	0.473		NaN											NaN	NaN	NaN	NaN	NaN	8	109	---		---	---
HTR1E	3354	broad.mit.edu	37	6	87725847	87725847	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:87725847delC	uc003pli.2	+	2	1498	c.795delC	c.(793-795)ATCfs	p.I265fs		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	265	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)|skin(1)	3		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CCATCAGGATCCCCCCCTTCG	0.512		NaN											NaN	NaN	NaN	NaN	NaN	7	322	---		---	---
BHLHE22	27319	broad.mit.edu	37	8	65493617	65493618	+	In_Frame_Ins	INS	-	-	GGC			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr8:65493617_65493618insGGC	uc003xvi.2	+	1	804_805	c.270_271insGGC	c.(268-273)insGGC	p.97_98insG	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	97_98	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						gcgcgggaagtggcggcggcgg	0.584		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
SURF6	6838	broad.mit.edu	37	9	136201230	136201234	+	Frame_Shift_Del	DEL	GCAGG	GCAGG	-	rs35975060		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:136201230_136201234delGCAGG	uc004cdb.3	-	2	376_380	c.298_302delCCTGC	c.(298-303)CCTGCAfs	p.P100fs		NM_006753	NP_006744	O75683	SURF6_HUMAN	surfeit 6	100_101						granular component	DNA binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CCTCTCACCTGCAGGGTTCCCTGCT	0.605		NaN											NaN	NaN	NaN	NaN	NaN	7	50	---		---	---
SURF1	6834	broad.mit.edu	37	9	136220674	136220682	+	In_Frame_Del	DEL	CCTCCCGGG	CCTCCCGGG	-	rs151258319		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:136220674_136220682delCCTCCCGGG	uc004cdh.1	-	5	469_477	c.437_445delCCCGGGAGG	c.(436-447)GCCCGGGAGGGC>GGC	p.ARE146del	SURF1_uc004cdg.1_In_Frame_Del_p.ARE37del|SURF2_uc004cdi.2_5'Flank	NM_003172	NP_003163	Q15526	SURF1_HUMAN	surfeit 1	146_148					aerobic respiration|respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			breast(2)	2				OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)		ATGAGGCCGCCCTCCCGGGCCTCCCGGAC	0.598		NaN											NaN	NaN	NaN	NaN	NaN	33	331	---		---	---
TFE3	7030	broad.mit.edu	37	X	48887952	48887952	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:48887952delC	uc004dmb.3	-	10	1683	c.1445delG	c.(1444-1446)GGAfs	p.G482fs	TFE3_uc004dmc.3_Frame_Shift_Del_p.G377fs	NM_006521	NP_006512	P19532	TFE3_HUMAN	transcription factor E3	482					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						CTGGGCAGGTCCCCCCCCTAC	0.647		NaN	T	SFPQ|ASPSCR1|PRCC|NONO|CLTC	papillary renal|alveolar soft part sarcoma|renal								NaN	NaN	NaN	NaN	NaN	40	122	---		---	---
