Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
AIM1L	55057	broad.mit.edu	37	1	26658052	26658052	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:26658052G>A	uc001bmd.3	-	14	1537	c.1107C>T	c.(1105-1107)GGC>GGT	p.G369G		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	369	Beta/gamma crystallin 'Greek key' 8.						sugar binding			pancreas(1)	1		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGGGGAACTCGCCCTCAGAGA	0.567		NA											18	29					0	0	0	0
RCC1	1104	broad.mit.edu	37	1	28864461	28864461	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:28864461C>A	uc001bqg.1	+	10	1293	c.1208C>A	c.(1207-1209)TCT>TAT	p.S403Y	SNHG3-RCC1_uc001bqa.1_Missense_Mutation_p.S403Y|SNHG3-RCC1_uc001bqb.1_Missense_Mutation_p.S403Y|SNHG3-RCC1_uc001bqc.1_Missense_Mutation_p.S403Y|RCC1_uc001bqe.1_Missense_Mutation_p.S420Y|RCC1_uc001bqf.1_Missense_Mutation_p.S434Y	NM_001269	NP_001260	P18754	RCC1_HUMAN	regulator of chromosome condensation 1 isoform	403	RCC1 7.				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGTCTTATCTGTGTCCAGC	0.577		NA											5	20					0.000602214	0.000641261	1	0
PTPRU	10076	broad.mit.edu	37	1	29609426	29609426	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:29609426C>G	uc001bru.2	+	12	2217	c.2107C>G	c.(2107-2109)CTC>GTC	p.L703V	PTPRU_uc001brv.2_Missense_Mutation_p.L703V|PTPRU_uc001brw.2_Missense_Mutation_p.L703V|PTPRU_uc009vtq.2_Missense_Mutation_p.L703V|PTPRU_uc009vtr.2_Missense_Mutation_p.L703V	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	703	Extracellular (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GAAGGCCTATCTCATCTACTT	0.617		NA											12	53					0	0	0	0
C1orf94	84970	broad.mit.edu	37	1	34666533	34666533	+	Silent	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:34666533C>T	uc001bxs.3	+	3	999	c.600C>T	c.(598-600)GCC>GCT	p.A200A	C1orf94_uc001bxt.2_Silent_p.A390A	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	200							protein binding				0		Myeloproliferative disorder(586;0.0393)				CATGTCCAGCCGAGAAGAACT	0.592		NA											13	27					0	0	0	0
INPP5B	3633	broad.mit.edu	37	1	38357097	38357097	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:38357097T>A	uc001ccg.1	-	8	656	c.562A>T	c.(562-564)AAT>TAT	p.N188Y	INPP5B_uc009vvk.1_Missense_Mutation_p.N129Y|INPP5B_uc001ccf.1_Missense_Mutation_p.N24Y|INPP5B_uc010oij.1_5'Flank	NM_005540	NP_005531	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	268					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			urinary_tract(1)	1	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCTTCCCATTTGGTCTCAAA	0.353		NA											44	87					0	0	0	0
FHL3	2275	broad.mit.edu	37	1	38463526	38463526	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:38463526C>G	uc001ccj.2	-	5	605	c.518G>C	c.(517-519)GGA>GCA	p.G173A	FHL3_uc001cck.2_Missense_Mutation_p.G173A|FHL3_uc001ccl.2_Missense_Mutation_p.G173A|FHL3_uc001ccm.2_Missense_Mutation_p.G65A|FHL3_uc009vvl.1_3'UTR	NM_004468	NP_004459	Q13643	FHL3_HUMAN	four and a half LIM domains 3	173	LIM zinc-binding 3.				muscle organ development		zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTATGTCACTCCACCCTGTGT	0.607		NA											9	31					0	0	0	0
PARS2	25973	broad.mit.edu	37	1	55224719	55224719	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:55224719C>T	uc001cxy.2	-	2	199	c.116G>A	c.(115-117)CGC>CAC	p.R39H		NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase (mitochondrial)(putative)	39					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			ovary(2)	2					L-Proline(DB00172)	CAGCAGCAGGCGCCGCCCTCT	0.522		NA											4	20					0	0	0	0
SGIP1	84251	broad.mit.edu	37	1	67154866	67154866	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:67154866G>C	uc001dcr.2	+	16	1568	c.1351G>C	c.(1351-1353)GTT>CTT	p.V451L	SGIP1_uc010opd.1_Missense_Mutation_p.V51L|SGIP1_uc001dcs.2_Missense_Mutation_p.V51L|SGIP1_uc001dct.2_Missense_Mutation_p.V51L|SGIP1_uc009wat.2_Missense_Mutation_p.V245L	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	451	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						CACTCCTTTGGTTCCTTGCAG	0.532		NA											87	159					0	0	0	0
OVGP1	5016	broad.mit.edu	37	1	111957388	111957388	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:111957388T>C	uc001eba.2	-	11	1791	c.1735A>G	c.(1735-1737)AGA>GGA	p.R579G	OVGP1_uc001eaz.2_Missense_Mutation_p.R541G|OVGP1_uc010owb.1_Missense_Mutation_p.R227G	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1 precursor	579					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			ovary(4)|large_intestine(1)	5		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GATATGTTTCTGGAGGGGACA	0.522		NA											34	61					0	0	0	0
TBX15	6913	broad.mit.edu	37	1	119474283	119474283	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:119474283G>A	uc001ehl.1	-	2	375	c.60C>T	c.(58-60)TTC>TTT	p.F20F		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	T-box 15	126	T-box.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CAATATCATGGAACCGCTTCC	0.507		NA											19	32					0	0	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987574	154987574	+	Silent	SNP	A	A	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:154987574A>C	uc001fgk.3	+	3	596	c.438A>C	c.(436-438)CTA>CTC	p.L146L	ZBTB7B_uc009wpa.2_Silent_p.L146L|ZBTB7B_uc001fgj.3_Silent_p.L180L|ZBTB7B_uc010peq.1_Silent_p.L180L|ZBTB7B_uc001fgl.3_Silent_p.L146L	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	146					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCAGTGGGCTAGAAGCTCCCA	0.627		NA											53	28					0	0	0	0
KIFAP3	22920	broad.mit.edu	37	1	169923234	169923234	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:169923234C>T	uc001ggv.2	-	19	2462	c.2191G>A	c.(2191-2193)GAA>AAA	p.E731K	KIFAP3_uc010plx.1_Missense_Mutation_p.E433K	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	731					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGGCTCCTTCAGAGGCAATT	0.358		NA											41	186					0	0	0	0
GPR25	2848	broad.mit.edu	37	1	200843070	200843070	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:200843070C>G	uc001gvn.1	+	1	905	c.905C>G	c.(904-906)GCC>GGC	p.A302G		NM_005298	NP_005289	O00155	GPR25_HUMAN	G protein-coupled receptor 25	302	Helical; Name=7; (Potential).					integral to plasma membrane				ovary(1)	1						AACAGCTGCGCCAACCCGCTC	0.731		NA											9	88					0	0	0	0
USH2A	7399	broad.mit.edu	37	1	215824103	215824103	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:215824103C>T	uc001hku.1	-	65	14561	c.14174G>A	c.(14173-14175)TGG>TAG	p.W4725*		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4725	Fibronectin type-III 32.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCACCATGTCCAGCTACTGGG	0.522		NA								HNSCC(13;0.011)			62	263					0	0	0	0
USH2A	7399	broad.mit.edu	37	1	215940058	215940058	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:215940058G>A	uc001hku.1	-	56	11399	c.11012C>T	c.(11011-11013)CCT>CTT	p.P3671L		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3671	Extracellular (Potential).|Fibronectin type-III 21.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCTAGAAAAGGCTCGCTTGA	0.438		NA								HNSCC(13;0.011)			168	23					0	0	0	0
UPF2	26019	broad.mit.edu	37	10	11994141	11994141	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:11994141C>A	uc001ila.2	-	14	3432	c.2958G>T	c.(2956-2958)AAG>AAT	p.K986N	UPF2_uc001ilb.2_Missense_Mutation_p.K986N|UPF2_uc001ilc.2_Missense_Mutation_p.K986N|UPF2_uc009xiz.1_Missense_Mutation_p.K986N	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	986	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				AGAGTTTGATCTTTGGTCTTA	0.368		NA											87	82					8.85e-50	1.03e-49	1	0
UPF2	26019	broad.mit.edu	37	10	11994167	11994167	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:11994167C>T	uc001ila.2	-	14	3406	c.2932G>A	c.(2932-2934)GAT>AAT	p.D978N	UPF2_uc001ilb.2_Missense_Mutation_p.D978N|UPF2_uc001ilc.2_Missense_Mutation_p.D978N|UPF2_uc009xiz.1_Missense_Mutation_p.D978N	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	978	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				TCTAGTGTATCACTGATCATG	0.353		NA											76	66					0	0	0	0
CUBN	8029	broad.mit.edu	37	10	17113568	17113568	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:17113568G>A	uc001ioo.2	-	19	2534	c.2482C>T	c.(2482-2484)CGC>TGC	p.R828C		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	828	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAGGCGAGCGAATGACCCCT	0.413		NA											17	66					0	0	0	0
NRP1	8829	broad.mit.edu	37	10	33619748	33619748	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:33619748G>A	uc001iwx.3	-	2	659	c.136C>T	c.(136-138)CAT>TAT	p.H46Y	NRP1_uc001iwv.3_Missense_Mutation_p.H46Y|NRP1_uc009xlz.2_Missense_Mutation_p.H46Y|NRP1_uc001iww.3_5'UTR|NRP1_uc001iwy.3_Missense_Mutation_p.H46Y|NRP1_uc001iwz.2_Missense_Mutation_p.H46Y|NRP1_uc001ixa.2_Missense_Mutation_p.H46Y|NRP1_uc001ixb.1_Missense_Mutation_p.H46Y|NRP1_uc001ixc.1_Missense_Mutation_p.H46Y	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	46	CUB 1.|Extracellular (Potential).				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	TGATAAGAATGAGGATAACCA	0.418		NA											24	30					0	0	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37451602	37451602	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:37451602C>G	uc001iza.1	+	16	1857	c.1758C>G	c.(1756-1758)TTC>TTG	p.F586L		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	642						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						CATCTGCCTTCGAGGTATTTA	0.328		NA											47	65					0	0	0	0
BICC1	80114	broad.mit.edu	37	10	60559980	60559980	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:60559980A>G	uc001jki.1	+	13	1752	c.1752A>G	c.(1750-1752)ATA>ATG	p.I584M	BICC1_uc001jkj.1_Missense_Mutation_p.I225M	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	584					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						ATGGTGCAATATCCACTTCAT	0.333		NA											15	7					0	0	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98469731	98469731	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:98469731C>T	uc001kmq.2	-	2	151	c.23G>A	c.(22-24)AGA>AAA	p.R8K		NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	8						cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTCGCATCCTCTGGGCACCCC	0.592		NA											13	51					0	0	0	0
TECTB	6975	broad.mit.edu	37	10	114044408	114044408	+	Silent	SNP	C	C	T	rs146576556		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:114044408C>T	uc001kzr.1	+	2	192	c.192C>T	c.(190-192)CAC>CAT	p.H64H		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	tectorin beta precursor	64	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix					0		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		ATGGGGTCCACGAAGGAGGTT	0.488		NA											25	14					0	0	0	0
PSTK	118672	broad.mit.edu	37	10	124742535	124742535	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:124742535G>A	uc001lgy.1	+	2	943	c.503G>A	c.(502-504)CGG>CAG	p.R168Q		NM_153336	NP_699167	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	168							ATP binding|kinase activity			liver(1)	1		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		CAGCTGGCTCGGAAATGTAAT	0.313		NA											58	61					0	0	0	0
GPR26	2849	broad.mit.edu	37	10	125426287	125426287	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:125426287G>A	uc001lhh.2	+	1	417	c.364G>A	c.(364-366)GAC>AAC	p.D122N		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	122	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCGCCTCCGCGACGCGGCGCT	0.701		NA											3	6					0	0	0	0
PSMC3	5702	broad.mit.edu	37	11	47444246	47444246	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:47444246G>C	uc001nfh.2	-	8	957	c.763C>G	c.(763-765)CAG>GAG	p.Q255E	PSMC3_uc009ylr.1_Missense_Mutation_p.Q213E	NM_002804	NP_002795	P17980	PRS6A_HUMAN	proteasome 26S ATPase subunit 3	255					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 complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			ovary(4)	4				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGCACCAGCTGGGGGCCAGCC	0.547		NA											29	110					0	0	0	0
OR8J3	81168	broad.mit.edu	37	11	55905136	55905136	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:55905136C>T	uc010riz.1	-	1	59	c.59G>A	c.(58-60)TGT>TAT	p.C20Y		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					GAGCTCTGGACAGCTAGAGAC	0.478		NA											33	93					0	0	0	0
OR8K5	219453	broad.mit.edu	37	11	55927085	55927085	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:55927085C>A	uc010rja.1	-	1	709	c.709G>T	c.(709-711)GCT>TCT	p.A237S		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GTGGAGAAAGCCTTTTTCCTG	0.408		NA											13	33					1.58e-08	1.75e-08	1	0
OR5M9	390162	broad.mit.edu	37	11	56230773	56230773	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:56230773G>A	uc010rjj.1	-	1	105	c.105C>T	c.(103-105)ATC>ATT	p.I35I		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					CCAACAGAGTGATCATGTAAA	0.443		NA											15	27					0	0	0	0
CCDC87	55231	broad.mit.edu	37	11	66359037	66359037	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:66359037C>G	uc001oiq.3	-	1	1518	c.1450G>C	c.(1450-1452)GAT>CAT	p.D484H	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	484										ovary(1)|skin(1)	2						ACAAAGTTATCAATATCCATT	0.463		NA											29	84					0	0	0	0
LRP5	4041	broad.mit.edu	37	11	68201226	68201226	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:68201226G>A	uc001ont.2	+	18	3995	c.3920G>A	c.(3919-3921)CGG>CAG	p.R1307Q	LRP5_uc009ysg.2_Missense_Mutation_p.R717Q	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1307	LDL-receptor class A 2.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CCCTGCGCGCGGGGTCAGTGT	0.711		NA											26	27					0	0	0	0
DDI1	414301	broad.mit.edu	37	11	103908425	103908425	+	Missense_Mutation	SNP	G	G	A	rs142985363		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:103908425G>A	uc001phr.2	+	1	1118	c.875G>A	c.(874-876)GGA>GAA	p.G292E	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	292					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GTTGCTAAAGGAGTGGGCACA	0.512		NA											14	25					0	0	0	0
SIK2	23235	broad.mit.edu	37	11	111571713	111571713	+	Silent	SNP	A	A	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:111571713A>G	uc001plt.2	+	5	700	c.582A>G	c.(580-582)GAA>GAG	p.E194E		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	194	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						AGCAGTATGAAGGACCACAGC	0.468		NA											8	27					0	0	0	0
UBE4A	9354	broad.mit.edu	37	11	118260439	118260439	+	Splice_Site	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:118260439G>A	uc001psw.2	+	17	2717	c.2588_splice	c.e17-1	p.E863_splice	UBE4A_uc001psv.2_Splice_Site_p.E870_splice	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A						ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTCTTTTCCAGAGATCAAGTC	0.433		NA											25	84					0	0	0	0
ARCN1	372	broad.mit.edu	37	11	118468432	118468432	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:118468432G>A	uc001ptq.2	+	9	1413	c.1252G>A	c.(1252-1254)GGC>AGC	p.G418S	ARCN1_uc009zah.2_Intron|ARCN1_uc010ryg.1_Missense_Mutation_p.G330S|ARCN1_uc009zag.2_Missense_Mutation_p.G459S	NM_001655	NP_001646	P48444	COPD_HUMAN	archain isoform 1	418	MHD.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GTCTGGTGTCGGCGCGCCTGT	0.493		NA											4	22					0	0	0	0
CRTAM	56253	broad.mit.edu	37	11	122724650	122724650	+	Splice_Site	SNP	G	G	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:122724650G>T	uc001pyj.2	+	4	347	c.347_splice	c.e4-1	p.A116_splice		NM_019604	NP_062550	O95727	CRTAM_HUMAN	class-I MHC-restricted T cell associated						cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			ovary(1)	1		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TTTTGTTCTAGCAACTCCTTT	0.398		NA											10	35					3.07e-06	3.34e-06	1	0
VPS26B	112936	broad.mit.edu	37	11	134095034	134095034	+	Silent	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:134095034C>T	uc001qhe.2	+	1	474	c.18C>T	c.(16-18)TTC>TTT	p.F6F	NCAPD3_uc001qhd.1_5'Flank|NCAPD3_uc010scm.1_5'Flank|NCAPD3_uc009zda.1_5'Flank|NCAPD3_uc010scn.1_5'Flank	NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B	6					protein transport|vacuolar transport	cytosol|retromer complex					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TCTTCGGCTTCGGGCAGAGCG	0.627		NA											5	10					0	0	0	0
ERC1	23085	broad.mit.edu	37	12	1250924	1250924	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:1250924G>T	uc001qjb.2	+	8	1949	c.1708G>T	c.(1708-1710)GAG>TAG	p.E570*	ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Nonsense_Mutation_p.E542*|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Nonsense_Mutation_p.E570*|ERC1_uc010sdv.1_Nonsense_Mutation_p.E318*|ERC1_uc009zdp.2_Nonsense_Mutation_p.E210*	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	570	Potential.				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(2)|breast(1)	5	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGATGTGAAGGAGCGGAAGGT	0.423		NA											16	275					1.15e-07	1.26e-07	1	0
NCAPD2	9918	broad.mit.edu	37	12	6639016	6639016	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:6639016G>C	uc001qoo.2	+	29	3775	c.3729G>C	c.(3727-3729)ATG>ATC	p.M1243I	NCAPD2_uc010sfd.1_Missense_Mutation_p.M1198I	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1243					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						TCCGTAAGATGCTTGACAATT	0.532		NA											392	84					0	0	0	0
DDX11	1663	broad.mit.edu	37	12	31253973	31253973	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:31253973C>T	uc001rjt.1	+	20	2212	c.1961C>T	c.(1960-1962)CCT>CTT	p.P654L	DDX11_uc001rjr.1_Missense_Mutation_p.P654L|DDX11_uc001rjs.1_Missense_Mutation_p.P654L|DDX11_uc001rju.1_Intron|DDX11_uc001rjv.1_Missense_Mutation_p.P654L|DDX11_uc001rjw.1_Missense_Mutation_p.P628L|DDX11_uc009zjn.1_RNA|DDX11_uc009zjo.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	654					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CACGTGATCCCTCCAGACAAC	0.582		NA								Multiple Myeloma(12;0.14)			15	114					0	0	0	0
MLL2	8085	broad.mit.edu	37	12	49441813	49441813	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:49441813C>T	uc001rta.3	-	14	4171	c.4171G>A	c.(4171-4173)GAG>AAG	p.E1391K		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1391	PHD-type 3.				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						AGGTGGCCCTCTGCCCCCCGG	0.562		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			31	49					0	0	0	0
STAT2	6773	broad.mit.edu	37	12	56743976	56743977	+	Splice_Site	DNP	TG	TG	AA			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:56743976_56743977TG>AA	uc001slc.2	-	13	1194	c.1116_splice	c.e13-1	p.G372_splice	STAT2_uc001slb.2_5'Flank|STAT2_uc001sld.2_Splice_Site_p.G368_splice|STAT2_uc010sqn.1_Splice_Site_p.G368_splice	NM_005419	NP_005410	P52630	STAT2_HUMAN	signal transducer and activator of transcription						interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						TTCCGGAAGCTGTTCCAGGAGG	0.426		NA											29	83					0	0	0	0
NR2C1	7181	broad.mit.edu	37	12	95451597	95451597	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:95451597G>A	uc001tdm.3	-	6	858	c.602C>T	c.(601-603)GCC>GTC	p.A201V	NR2C1_uc010suu.1_Missense_Mutation_p.A201V|NR2C1_uc001tdo.3_Missense_Mutation_p.A201V|NR2C1_uc001tdn.3_Missense_Mutation_p.A201V	NM_003297	NP_003288	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	201					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1						TGTTGAAGCGGCACAGTTGGA	0.343		NA											4	147					0	0	0	0
RIMBP2	23504	broad.mit.edu	37	12	130921646	130921646	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:130921646G>C	uc001uil.2	-	10	1960	c.1796C>G	c.(1795-1797)TCA>TGA	p.S599*	RIMBP2_uc001uim.2_Nonsense_Mutation_p.S507*|RIMBP2_uc001uin.1_Nonsense_Mutation_p.S258*	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	599	Pro-rich.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TAATGGCTTTGATTGGGGTGC	0.652		NA											4	16					0	0	0	0
NBEA	26960	broad.mit.edu	37	13	35685031	35685031	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr13:35685031G>C	uc001uvb.2	+	14	2124	c.1918G>C	c.(1918-1920)GTA>CTA	p.V640L		NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	640						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGTAGGAACAGTATTACAGCT	0.373		NA											19	43					0	0	0	0
SLITRK5	26050	broad.mit.edu	37	13	88330088	88330088	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr13:88330088G>A	uc001vln.2	+	2	2664	c.2445G>A	c.(2443-2445)CTG>CTA	p.L815L	SLITRK5_uc010tic.1_Silent_p.L574L	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	815	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					agctgcagctgcagcCCGGGG	0.428		NA											3	6					0	0	0	0
IPO5	3843	broad.mit.edu	37	13	98668033	98668033	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr13:98668033G>A	uc001vne.2	+	24	2725	c.2545G>A	c.(2545-2547)GAG>AAG	p.E849K		NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	831					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						ACTACAAGATGAGGTAAGTTA	0.358		NA											11	27					0	0	0	0
C14orf104	55172	broad.mit.edu	37	14	50092739	50092739	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr14:50092739G>A	uc001wws.3	-	3	2116	c.2035C>T	c.(2035-2037)CTA>TTA	p.L679L	SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Silent_p.L631L	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN	kintoun isoform 1	679					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm					0	all_epithelial(31;0.0021)|Breast(41;0.0124)					TTTCCTTGTAGCTGATCAGAG	0.299		NA							Kartagener_syndrome				3	8					0	0	0	0
PPP2R5E	5529	broad.mit.edu	37	14	63860550	63860550	+	Silent	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr14:63860550G>C	uc001xgd.1	-	8	1427	c.837C>G	c.(835-837)CTC>CTG	p.L279L	PPP2R5E_uc010tsf.1_Silent_p.L203L|PPP2R5E_uc010tsg.1_Silent_p.L203L|PPP2R5E_uc001xge.2_Silent_p.L279L|PPP2R5E_uc010tsh.1_Silent_p.L279L|PPP2R5E_uc001xgf.1_RNA	NM_006246	NP_006237	Q16537	2A5E_HUMAN	epsilon isoform of regulatory subunit B56,	279					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GTGCATGGAAGAGTGATAAGC	0.343		NA											6	10					0	0	0	0
SMEK1	55671	broad.mit.edu	37	14	91948149	91948149	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr14:91948149G>A	uc001xzn.2	-	4	1508	c.686C>T	c.(685-687)GCT>GTT	p.A229V	SMEK1_uc001xzm.2_Missense_Mutation_p.A229V|SMEK1_uc001xzo.2_Missense_Mutation_p.A229V|SMEK1_uc010atz.2_Intron|SMEK1_uc001xzp.1_RNA|SMEK1_uc001xzq.1_Missense_Mutation_p.A105V	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1	229						microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TTGTGATAAAGCAGGATCATA	0.348		NA											19	38					0	0	0	0
ATP10A	57194	broad.mit.edu	37	15	25966813	25966813	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr15:25966813C>G	uc010ayu.2	-	7	1460	c.1354G>C	c.(1354-1356)GAT>CAT	p.D452H		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	452	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CCATTTGCATCATGAGAATAT	0.418		NA											17	69					0	0	0	0
HERC2	8924	broad.mit.edu	37	15	28358347	28358347	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr15:28358347A>G	uc001zbj.2	-	92	14208	c.14102T>C	c.(14101-14103)ATC>ACC	p.I4701T	HERC2_uc001zbi.2_Missense_Mutation_p.I390T	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4701	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAACCACTGGATCAGCGATGC	0.607		NA											11	48					0	0	0	0
CGNL1	84952	broad.mit.edu	37	15	57815716	57815716	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr15:57815716G>A	uc002aeg.2	+	11	2821	c.2745G>A	c.(2743-2745)CAG>CAA	p.Q915Q	CGNL1_uc010bfw.2_Silent_p.Q915Q	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN	cingulin-like 1	915	Potential.					myosin complex|tight junction	motor activity			skin(6)|ovary(4)|central_nervous_system(1)	11				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CCCAGGAGCAGAAGCAGTTGT	0.532		NA											43	20					0	0	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274118	10274118	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr16:10274118G>C	uc002czo.3	-	2	699	c.151C>G	c.(151-153)CTT>GTT	p.L51V	GRIN2A_uc010uym.1_Missense_Mutation_p.L51V|GRIN2A_uc002czr.3_Missense_Mutation_p.L51V|GRIN2A_uc010buk.2_Missense_Mutation_p.L51V	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	51	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGTGTTCGAAGTTCGCGCTCT	0.682		NA											16	93					0	0	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25268325	25268325	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr16:25268325C>G	uc002dod.3	-	1	531	c.124G>C	c.(124-126)GAG>CAG	p.E42Q	ZKSCAN2_uc010vcl.1_5'UTR|ZKSCAN2_uc002doe.2_Missense_Mutation_p.E42Q	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	42					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		CGGAAGGTCTCAGAGCTATCC	0.522		NA									OREG0023690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	40					0	0	0	0
CPNE2	221184	broad.mit.edu	37	16	57149418	57149418	+	Silent	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr16:57149418C>T	uc002eks.1	+	4	620	c.391C>T	c.(391-393)CTG>TTG	p.L131L	CPNE2_uc010cct.1_Silent_p.L157L|CPNE2_uc010ccu.1_Silent_p.L131L	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	copine II	131										central_nervous_system(1)|skin(1)	2		all_neural(199;0.224)				CACTAGGCCTCTGCTGCTGCT	0.622		NA											14	46					0	0	0	0
CPNE2	221184	broad.mit.edu	37	16	57153158	57153158	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr16:57153158G>A	uc002eks.1	+	6	788	c.559G>A	c.(559-561)GAT>AAT	p.D187N	CPNE2_uc010cct.1_Missense_Mutation_p.D213N|CPNE2_uc010ccu.1_Missense_Mutation_p.D187N	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	copine II	187	C2 2.									central_nervous_system(1)|skin(1)	2		all_neural(199;0.224)				GCCAGGAGACGATGGCAAGTG	0.587		NA											30	90					0	0	0	0
OR3A2	4995	broad.mit.edu	37	17	3181289	3181289	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr17:3181289A>C	uc002fvg.2	-	1	980	c.941T>G	c.(940-942)TTT>TGT	p.F314C		NM_002551	NP_002542	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A,	314	Cytoplasmic (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						CCTCCCCAAAAATATTTGCCA	0.463		NA											8	48					0	0	0	0
ZNF594	84622	broad.mit.edu	37	17	5085147	5085147	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr17:5085147C>G	uc010cla.1	-	2	2561	c.2405G>C	c.(2404-2406)AGA>ACA	p.R802T		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	802					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						CTCAGAAGGTCTGAGCTCTGA	0.403		NA											40	114					0	0	0	0
ZNF624	57547	broad.mit.edu	37	17	16527489	16527489	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr17:16527489C>G	uc010cpi.1	-	6	794	c.711G>C	c.(709-711)TTG>TTC	p.L237F		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TATCTGTAATCAAATTTAAAT	0.383		NA											22	66					0	0	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274424	39274424	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr17:39274424G>C	uc002hvz.2	-	1	183	c.144C>G	c.(142-144)AGC>AGG	p.S48R		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	48	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].|5.		Missing (in allele KAP4.14).			keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCCTGCAGCAGCTGGACACAC	0.672		NA											6	55					0	0	0	0
RPTOR	57521	broad.mit.edu	37	17	78858859	78858859	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr17:78858859G>C	uc002jyt.1	+	17	2699	c.1894G>C	c.(1894-1896)GAG>CAG	p.E632Q	RPTOR_uc010wug.1_Intron	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	632					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						CAACTCTGCAGAGAGGACGGA	0.672		NA											4	13					0	0	0	0
SETBP1	26040	broad.mit.edu	37	18	42530340	42530340	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr18:42530340G>A	uc010dni.2	+	4	1331	c.1035G>A	c.(1033-1035)CAG>CAA	p.Q345Q		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	345						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGATAAGTCAGACCATACCAA	0.483		NA							Schinzel-Giedion_syndrome				13	35					0	0	0	0
TRIP10	9322	broad.mit.edu	37	19	6743214	6743214	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:6743214G>C	uc002mfs.2	+	5	421	c.355G>C	c.(355-357)GAA>CAA	p.E119Q	TRIP10_uc010dux.1_Missense_Mutation_p.E119Q|TRIP10_uc002mfr.2_Missense_Mutation_p.E119Q|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_5'UTR	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	119	Potential.|Induction of membrane tubulation.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			ovary(1)	1						GCACTTCCAAGAAGGGCGGCG	0.562		NA											9	16					0	0	0	0
COL5A3	50509	broad.mit.edu	37	19	10107155	10107155	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:10107155A>T	uc002mmq.1	-	13	1462	c.1376T>A	c.(1375-1377)GTC>GAC	p.V459D		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	459	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			CTGGAATGAGACTGGGGGGCC	0.597		NA											13	41					0	0	0	0
JAK3	3718	broad.mit.edu	37	19	17942159	17942159	+	Silent	SNP	G	G	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:17942159G>T	uc002nhn.3	-	21	2956	c.2856C>A	c.(2854-2856)GCC>GCA	p.A952A	JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Silent_p.A952A	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	952	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						GGATGTTTCGGGCGGCCAGGT	0.652		2	Mis		acute megakaryocytic leukemia|								26	107					5.77e-19	6.64e-19	1	0
KIAA1683	80726	broad.mit.edu	37	19	18377335	18377335	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:18377335G>C	uc002nin.2	-	3	1231	c.1015C>G	c.(1015-1017)CTA>GTA	p.L339V	KIAA1683_uc010ebn.2_Missense_Mutation_p.L339V|KIAA1683_uc010xqe.1_Missense_Mutation_p.L293V	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	339	Thr-rich.					mitochondrion				ovary(2)	2						GTCTGGAGTAGAGTCTTGGTG	0.567		NA											13	53					0	0	0	0
ZNF383	163087	broad.mit.edu	37	19	37733511	37733511	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:37733511A>G	uc002oft.1	+	8	953	c.373A>G	c.(373-375)AGC>GGC	p.S125G	ZNF383_uc002ofs.1_Missense_Mutation_p.S60G|ZNF383_uc002ofu.1_Missense_Mutation_p.S125G	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	zinc finger protein 383	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAATATAGAAGCCACCTTGC	0.383		NA											46	87					0	0	0	0
SAMD4B	55095	broad.mit.edu	37	19	39860463	39860463	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:39860463G>A	uc002olb.2	+	6	1400	c.365G>A	c.(364-366)AGT>AAT	p.S122N	SAMD4B_uc002ola.2_Missense_Mutation_p.S122N	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	122							protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ATCGAGGAGAGTCGCCAGCTG	0.587		NA											9	22					0	0	0	0
CCDC114	93233	broad.mit.edu	37	19	48800482	48800482	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:48800482G>A	uc002pir.2	-	14	2447	c.1764C>T	c.(1762-1764)TTC>TTT	p.F588F	CCDC114_uc002piq.2_Silent_p.F397F|CCDC114_uc002pio.2_3'UTR	NM_144577	NP_653178	Q96M63	CC114_HUMAN	coiled-coil domain containing 114 isoform 2	588										ovary(1)	1		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TGGTGGAGCCGAAGGTCACGT	0.657		NA											13	18					0	0	0	0
GPR32	2854	broad.mit.edu	37	19	51273921	51273921	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:51273921G>A	uc010ycf.1	+	1	64	c.64G>A	c.(64-66)GAT>AAT	p.D22N		NM_001506	NP_001497	O75388	GPR32_HUMAN	G protein-coupled receptor 32	22	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCTGACACGTGATCGCTCTTG	0.527		NA											11	15					0	0	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:58385762C>G	uc002qqo.2	-	3	1268	c.996G>C	c.(994-996)TCG>TCC	p.S332S	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332	C2H2-type 5.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0						ATTTGCTAAACGATTTCCCAC	0.358		NA											3	5					0	0	0	0
TPO	7173	broad.mit.edu	37	2	1460007	1460007	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:1460007G>C	uc002qww.2	+	7	863	c.772G>C	c.(772-774)GAC>CAC	p.D258H	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.D258H|TPO_uc002qwr.2_Missense_Mutation_p.D258H|TPO_uc002qwx.2_Missense_Mutation_p.D258H|TPO_uc010yio.1_Missense_Mutation_p.D258H|TPO_uc010yip.1_Missense_Mutation_p.D258H	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	258	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGAGGGGCTGACTGCCAGAT	0.463		NA											9	40					0	0	0	0
ALMS1	7840	broad.mit.edu	37	2	73716878	73716878	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:73716878G>C	uc002sje.1	+	12	7906	c.7795G>C	c.(7795-7797)GAT>CAT	p.D2599H	ALMS1_uc002sjf.1_Missense_Mutation_p.D2555H|ALMS1_uc002sjg.2_Missense_Mutation_p.D1985H|ALMS1_uc002sjh.1_Missense_Mutation_p.D1985H	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2597					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						TCCACAACTAGATAGACACCC	0.473		NA											13	46					0	0	0	0
CTNNA2	1496	broad.mit.edu	37	2	80085146	80085146	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:80085146G>A	uc010ysh.1	+	3	311	c.306G>A	c.(304-306)ACG>ACA	p.T102T	CTNNA2_uc010yse.1_Silent_p.T102T|CTNNA2_uc010ysf.1_Silent_p.T102T|CTNNA2_uc010ysg.1_Silent_p.T102T	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	102					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						CAGGTGAGACGATGCGGATCG	0.552		NA											28	87					0	0	0	0
KDM3A	55818	broad.mit.edu	37	2	86716520	86716520	+	Silent	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:86716520C>G	uc002sri.3	+	22	3720	c.3393C>G	c.(3391-3393)GTC>GTG	p.V1131V	KDM3A_uc010ytj.1_Silent_p.V1131V|KDM3A_uc010ytk.1_Silent_p.V1079V	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	1131	JmjC.				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						ATGTCATGGTCTATGTGGGAA	0.428		NA											20	43					0	0	0	0
MYO7B	4648	broad.mit.edu	37	2	128394476	128394476	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:128394476C>A	uc002top.2	+	46	6290	c.6237C>A	c.(6235-6237)TGC>TGA	p.C2079*	MYO7B_uc002tos.1_Nonsense_Mutation_p.C189*|MYO7B_uc002tot.2_Nonsense_Mutation_p.C189*	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	2079	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCCTGCTGTGCGAGACCTCCC	0.612		NA											3	40					0.004672	0.00488957	1	0
THSD7B	80731	broad.mit.edu	37	2	138414381	138414381	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:138414381C>G	uc002tva.1	+	22	4034	c.4034C>G	c.(4033-4035)ACA>AGA	p.T1345R	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGCCATTTAACAGAATGGTCA	0.473		NA											5	32					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141032089	141032089	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:141032089G>A	uc002tvj.1	-	85	14018	c.13046C>T	c.(13045-13047)ACG>ATG	p.T4349M		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4349	Extracellular (Potential).|EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCATAGCGCGTTGGACAGAC	0.423		NA								TSP Lung(27;0.18)			17	32					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141116452	141116452	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:141116452G>A	uc002tvj.1	-	73	12167	c.11195C>T	c.(11194-11196)TCG>TTG	p.S3732L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3732	Extracellular (Potential).|LDL-receptor class A 31.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTTGCTCCGACTGTAGGCA	0.388		NA								TSP Lung(27;0.18)			34	42					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179439600	179439600	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:179439600G>A	uc010zfg.1	-	275	63779	c.63555C>T	c.(63553-63555)AAC>AAT	p.N21185N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.N14880N|TTN_uc010zfi.1_Silent_p.N14813N|TTN_uc010zfj.1_Silent_p.N14688N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22112							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)			CACCACCATCGTTCTCAGGTG	0.448		NA											4	17					0	0	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187712479	187712479	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:187712479G>A	uc002upu.1	-	2	249	c.209C>T	c.(208-210)CCG>CTG	p.P70L		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	70	SWIM-type.				apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCCTCCTTTCGGAAATGTGGA	0.348		NA											25	35					0	0	0	0
FAM119A	151194	broad.mit.edu	37	2	208478045	208478045	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:208478045T>G	uc002vcf.2	-	4	542	c.382A>C	c.(382-384)AAT>CAT	p.N128H	FAM119A_uc002vce.2_Intron|FAM119A_uc010fuk.1_Missense_Mutation_p.N128H|FAM119A_uc002vcg.3_Missense_Mutation_p.N128H	NM_145280	NP_660323	Q8WXB1	MT21A_HUMAN	hypothetical protein LOC151194	128						integral to membrane	methyltransferase activity				0				LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135)		CTCCCCAAATTTTGTCCCCAA	0.368		NA											24	33					0	0	0	0
KIAA1486	57624	broad.mit.edu	37	2	226447438	226447438	+	Silent	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:226447438C>T	uc002voe.2	+	4	1480	c.1305C>T	c.(1303-1305)ACC>ACT	p.T435T	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.T205T	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	435	Pro-rich.									ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		GTCACTCCACCTCTCCCTCCC	0.647		NA											9	12					0	0	0	0
ALPPL2	251	broad.mit.edu	37	2	233272041	233272041	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:233272041A>G	uc002vss.3	+	3	283	c.230A>G	c.(229-231)CAG>CGG	p.Q77R		NM_031313	NP_112603	P10696	PPBN_HUMAN	placental-like alkaline phosphatase	77					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			skin(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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CTAAAAGGGCAGAAGAAGGAC	0.587		NA											17	36					0	0	0	0
CHRNG	1146	broad.mit.edu	37	2	233410382	233410382	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:233410382C>G	uc002vsx.1	+	12	1531	c.1510C>G	c.(1510-1512)CCA>GCA	p.P504A	CHRNG_uc010fye.1_Missense_Mutation_p.P452A	NM_005199	NP_005190	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma	504					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity				0		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;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		GCCGGCCCTGCCATTCCCTGG	0.617		NA											17	43					0	0	0	0
ATG16L1	55054	broad.mit.edu	37	2	234202923	234202923	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:234202923C>T	uc002vty.2	+	18	2008	c.1751C>T	c.(1750-1752)GCG>GTG	p.A584V	ATG16L1_uc002vtx.1_Missense_Mutation_p.A421V|ATG16L1_uc002vua.2_Missense_Mutation_p.A565V|ATG16L1_uc002vub.2_Missense_Mutation_p.A442V|ATG16L1_uc002vtz.2_Missense_Mutation_p.A405V|ATG16L1_uc002vud.3_Missense_Mutation_p.A500V	NM_030803	NP_110430	Q676U5	A16L1_HUMAN	APG16 autophagy 16-like isoform 1	584	WD 7.				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding				0		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		AATGCGGTGGCGTGGTCGCCC	0.537		NA											14	25					0	0	0	0
UGT1A7	54577	broad.mit.edu	37	2	234591112	234591112	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:234591112C>G	uc002vut.2	+	1	529	c.529C>G	c.(529-531)CTT>GTT	p.L177V	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Missense_Mutation_p.L177V	NM_019077	NP_061950	Q9HAW7	UD17_HUMAN	UDP glycosyltransferase 1 family, polypeptide A7	177					drug metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	drug binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|retinoic acid binding			ovary(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TTGCCACTATCTTGAAGAAGG	0.483		NA											56	100					0	0	0	0
C20orf194	25943	broad.mit.edu	37	20	3311319	3311319	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr20:3311319G>T	uc002wii.2	-	12	1125	c.1074C>A	c.(1072-1074)AGC>AGA	p.S358R	C20orf194_uc002wij.3_Missense_Mutation_p.S97R|C20orf194_uc002wik.2_Missense_Mutation_p.S32R|C20orf194_uc010gay.1_RNA	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	358											0						TGGGCAGCTTGCTGTCACCAC	0.388		NA											7	17					0.00307968	0.00325501	1	0
DOCK3	1795	broad.mit.edu	37	3	51317591	51317591	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:51317591T>C	uc011bds.1	+	27	2901	c.2878T>C	c.(2878-2880)TTC>CTC	p.F960L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	960						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)		TGACACCCATTTCCAGCACCT	0.532		NA											10	17					0	0	0	0
FAM116A	201627	broad.mit.edu	37	3	57658127	57658127	+	Silent	SNP	T	T	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:57658127T>C	uc003dja.2	-	2	347	c.276A>G	c.(274-276)GAA>GAG	p.E92E		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	hypothetical protein LOC201627	92										pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		TTTTACTTACTTCTCTGTCAG	0.234		NA											39	13					0	0	0	0
ROBO2	6092	broad.mit.edu	37	3	77600053	77600053	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:77600053C>G	uc003dpy.3	+	8	1787	c.1144C>G	c.(1144-1146)CAA>GAA	p.Q382E	ROBO2_uc003dpz.2_Missense_Mutation_p.Q386E|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.Q386E	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	382	Ig-like C2-type 4.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CACCAACATTCAACGTTCCGA	0.488		NA											16	34					0	0	0	0
SLC15A2	6565	broad.mit.edu	37	3	121646672	121646672	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:121646672G>C	uc003eep.2	+	14	1345	c.1192G>C	c.(1192-1194)GAG>CAG	p.E398Q	SLC15A2_uc011bjn.1_Missense_Mutation_p.E367Q	NM_021082	NP_066568	Q16348	S15A2_HUMAN	peptide transporter 2 isoform a	398	Helical; (Potential).				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GGCAGCTGTAGAGATAAAAAT	0.254		NA											15	43					0	0	0	0
DHX36	170506	broad.mit.edu	37	3	154022638	154022638	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:154022638C>A	uc003ezy.3	-	8	1173	c.1092G>T	c.(1090-1092)TTG>TTT	p.L364F	DHX36_uc010hvq.2_Missense_Mutation_p.L364F|DHX36_uc003ezz.3_Missense_Mutation_p.L364F	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	364	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTGCACTCATCAATATTACTT	0.289		NA											10	78					0.000978159	0.00103899	1	0
IFT80	57560	broad.mit.edu	37	3	159997002	159997002	+	Silent	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:159997002C>G	uc011boy.1	-	16	2248	c.1815G>C	c.(1813-1815)GTG>GTC	p.V605V	IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Silent_p.V468V|IFT80_uc003fdd.1_Silent_p.V288V|IFT80_uc003fde.1_Silent_p.V468V	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	WD repeat domain 56	605						cilium axoneme|microtubule basal body				ovary(1)	1			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GACAAAGTCTCACAGCATCTT	0.343		NA											13	117					0	0	0	0
SMC4	10051	broad.mit.edu	37	3	160141353	160141353	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:160141353C>G	uc003fdh.2	+	14	2273	c.2160C>G	c.(2158-2160)AAC>AAG	p.N720K	IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.N484K|SMC4_uc003fdi.2_Missense_Mutation_p.N695K|SMC4_uc003fdj.2_Missense_Mutation_p.N720K|SMC4_uc010hwd.2_Missense_Mutation_p.N720K|SMC4_uc003fdl.2_Missense_Mutation_p.N423K	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	720	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)			TAGCTGACAACTTGGATCAAG	0.343		NA											53	389					0	0	0	0
SLITRK3	22865	broad.mit.edu	37	3	164905937	164905937	+	Silent	SNP	G	G	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:164905937G>T	uc003fej.3	-	2	3126	c.2682C>A	c.(2680-2682)CCC>CCA	p.P894P	SLITRK3_uc003fek.2_Silent_p.P894P	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	894	Cytoplasmic (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						CCACTGTGCAGGGGGCAGGCT	0.552		NA								HNSCC(40;0.11)			44	59					1.75e-18	2.01e-18	1	0
ZNF639	51193	broad.mit.edu	37	3	179052100	179052100	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:179052100C>G	uc003fjq.1	+	6	1691	c.1348C>G	c.(1348-1350)CTA>GTA	p.L450V	ZNF639_uc003fjr.1_Missense_Mutation_p.L450V	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	zinc finger protein 639	450	Interaction with CTNNA2.|C2H2-type 7.				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TAAAATTCATCTAGATTTCAA	0.323		NA											32	162					0	0	0	0
YEATS2	55689	broad.mit.edu	37	3	183493712	183493712	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:183493712C>G	uc003fly.2	+	18	2573	c.2378C>G	c.(2377-2379)TCT>TGT	p.S793C	YEATS2_uc003flz.2_5'UTR	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	793					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GATCTCCAGTCTGGCTCAGCT	0.279		NA											20	146					0	0	0	0
CHRD	8646	broad.mit.edu	37	3	184102418	184102418	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:184102418G>T	uc003fov.2	+	13	1780	c.1534G>T	c.(1534-1536)GAC>TAC	p.D512Y	CHRD_uc003fow.2_Missense_Mutation_p.D142Y|CHRD_uc003fox.2_Missense_Mutation_p.D512Y|CHRD_uc003foy.2_Missense_Mutation_p.D142Y|CHRD_uc010hyc.2_Missense_Mutation_p.D102Y|CHRD_uc011brr.1_Missense_Mutation_p.D142Y	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	512	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGACTTCCCAGACGGAGAGCT	0.637		NA											23	90					1.5e-11	1.69e-11	1	0
PAK2	5062	broad.mit.edu	37	3	196530019	196530019	+	Silent	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:196530019G>C	uc003fwy.3	+	4	742	c.420G>C	c.(418-420)CTG>CTC	p.L140L		NM_002577	NP_002568	Q13177	PAK2_HUMAN	p21-activated kinase 2	140					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			ovary(1)|lung(1)	2	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AGAAATATCTGAGCTTTACTC	0.418		NA											16	113					0	0	0	0
KIT	3815	broad.mit.edu	37	4	55594190	55594190	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:55594190G>C	uc010igr.2	+	13	1980	c.1893G>C	c.(1891-1893)TTG>TTC	p.L631F	KIT_uc010igs.2_Missense_Mutation_p.L627F|KIT_uc010igt.1_Missense_Mutation_p.L80F	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	631	Protein kinase.|Cytoplasmic (Potential).				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGCCCATTTGACAGAACGGG	0.438		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				5	71					0	0	0	0
CENPC1	1060	broad.mit.edu	37	4	68385088	68385088	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:68385088G>A	uc003hdd.1	-	6	647	c.464C>T	c.(463-465)TCC>TTC	p.S155F	CENPC1_uc010ihj.1_RNA|CENPC1_uc010ihk.1_RNA|CENPC1_uc010ihm.1_Missense_Mutation_p.S155F	NM_001812	NP_001803	Q03188	CENPC_HUMAN	centromere protein C 1	155					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			urinary_tract(1)|lung(1)	2						TGAGCCAACGGATAAGTAAAA	0.343		NA											23	83					0	0	0	0
PRDM8	56978	broad.mit.edu	37	4	81122461	81122461	+	Silent	SNP	A	A	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:81122461A>C	uc010ijo.2	+	7	1076	c.237A>C	c.(235-237)GCA>GCC	p.A79A	PRDM8_uc003hmb.3_Silent_p.A79A|PRDM8_uc003hmc.3_Silent_p.A79A	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	79	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						CCTCAGCAGCAAATGGTTCCT	0.478		NA											9	18					0	0	0	0
PRDM8	56978	broad.mit.edu	37	4	81123227	81123227	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:81123227G>A	uc010ijo.2	+	8	1450	c.611G>A	c.(610-612)GGC>GAC	p.G204D	PRDM8_uc003hmb.3_Missense_Mutation_p.G204D|PRDM8_uc003hmc.3_Missense_Mutation_p.G204D	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	204	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						gaccacgggggcggcggcggc	0.378		NA									OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	53					0	0	0	0
MTTP	4547	broad.mit.edu	37	4	100534196	100534196	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:100534196T>C	uc003hvc.3	+	16	2372	c.2116T>C	c.(2116-2118)TTT>CTT	p.F706L	MTTP_uc011cej.1_Missense_Mutation_p.F733L	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	706					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	ACCTGTCACCTTTTTCAACGG	0.478		NA											3	120					0	0	0	0
TBCK	93627	broad.mit.edu	37	4	107156504	107156504	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:107156504G>T	uc010ilv.2	-	15	1736	c.1371C>A	c.(1369-1371)AAC>AAA	p.N457K	TBCK_uc003hyb.2_Missense_Mutation_p.N200K|TBCK_uc003hye.2_Missense_Mutation_p.N418K|TBCK_uc003hyc.2_Missense_Mutation_p.N394K|TBCK_uc003hyd.2_Missense_Mutation_p.N285K|TBCK_uc003hyf.2_Missense_Mutation_p.N457K	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	457						intracellular	Rab GTPase activator activity	p.N457fs*15(1)		large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						TCCAGATTTGGTTTTTTTTAT	0.363		NA											10	28					6.4e-05	6.9e-05	1	0
ANK2	287	broad.mit.edu	37	4	114275313	114275313	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:114275313C>A	uc003ibe.3	+	38	5639	c.5539C>A	c.(5539-5541)CCA>ACA	p.P1847T	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.P1862T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1814	Repeat A.|Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCAGTATCACCATCAAGTAA	0.473		NA											56	179					2.54e-28	2.95e-28	1	0
KIAA1109	84162	broad.mit.edu	37	4	123270379	123270379	+	Silent	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:123270379C>T	uc003ieh.2	+	76	13392	c.13347C>T	c.(13345-13347)ATC>ATT	p.I4449I	KIAA1109_uc003iem.2_Silent_p.I805I	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4449					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ATCGAGAGATCAGCATGTCTG	0.403		NA											12	37					0	0	0	0
ZNF827	152485	broad.mit.edu	37	4	146823888	146823888	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:146823888C>T	uc003ikn.2	-	2	571	c.523G>A	c.(523-525)GAG>AAG	p.E175K	ZNF827_uc003ikm.2_Missense_Mutation_p.E175K|ZNF827_uc010iox.2_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					TCCTGCTTCTCGGCCAACTTC	0.537		NA											4	93					0	0	0	0
FAT1	2195	broad.mit.edu	37	4	187535482	187535482	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:187535482G>A	uc003izf.2	-	12	9280	c.9092C>T	c.(9091-9093)ACT>ATT	p.T3031I		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3031	Extracellular (Potential).|Cadherin 28.				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						TTCAGGAATAGTGTCTGAATA	0.378		NA								HNSCC(5;0.00058)			19	56					0	0	0	0
TERT	7015	broad.mit.edu	37	5	1253933	1253933	+	Silent	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:1253933C>A	uc003jcb.1	-	16	3367	c.3309G>T	c.(3307-3309)CTG>CTT	p.L1103L	TERT_uc003jbz.1_Silent_p.L299L|TERT_uc003jca.1_Silent_p.L1091L|TERT_uc003jcc.1_Silent_p.L1040L|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	1103	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCTTCCGACTCAGCTGCGTCT	0.662		NA							TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic				13	133					1.36e-06	1.49e-06	1	0
C5orf23	79614	broad.mit.edu	37	5	32789781	32789781	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:32789781C>A	uc003jhw.1	+	1	837	c.274C>A	c.(274-276)CCC>ACC	p.P92T		NM_024563	NP_078839			hypothetical protein LOC79614												0						CCTTCTTTGCCCCAAATGCAT	0.403		NA											18	41					1.68e-08	1.85e-08	1	0
REEP5	7905	broad.mit.edu	37	5	112238181	112238181	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:112238181C>T	uc003kqe.1	-	3	391	c.247G>A	c.(247-249)GAT>AAT	p.D83N	REEP5_uc011cvw.1_Missense_Mutation_p.D56N|REEP5_uc011cvx.1_RNA|REEP5_uc011cvy.1_Missense_Mutation_p.D83N|REEP5_uc011cvz.1_Intron	NM_005669	NP_005660	Q00765	REEP5_HUMAN	receptor accessory protein 5	83						integral to membrane	protein binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		CACTGGGTATCATCTTCTTTG	0.383		NA											16	48					0	0	0	0
FBN2	2201	broad.mit.edu	37	5	127595471	127595471	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:127595471C>T	uc003kuu.2	-	65	8854	c.8415G>A	c.(8413-8415)ATG>ATA	p.M2805I		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2805					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGTTGAACTTCATGTTGACGG	0.517		NA											47	44					0	0	0	0
KCTD16	57528	broad.mit.edu	37	5	143586683	143586683	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:143586683C>G	uc003lnm.1	+	3	1035	c.406C>G	c.(406-408)CAC>GAC	p.H136D	KCTD16_uc003lnn.1_Missense_Mutation_p.H136D	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	potassium channel tetramerisation domain	136						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(2)|ovary(1)|skin(1)	4		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGAATTCTGCCACAGTGACTT	0.522		NA											28	43					0	0	0	0
THG1L	54974	broad.mit.edu	37	5	157166327	157166327	+	Splice_Site	SNP	A	A	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:157166327A>T	uc003lxd.2	+	6	862	c.736_splice	c.e6-2	p.V246_splice	THG1L_uc011ddu.1_Splice_Site_p.V114_splice	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	interphase cytoplasmic foci protein 45						protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTTACCTGTAGGTGGATGAA	0.428		NA											17	26					0	0	0	0
TRIM26	7726	broad.mit.edu	37	6	30166498	30166498	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:30166498C>G	uc003npr.2	-	3	592	c.383G>C	c.(382-384)CGG>CCG	p.R128P	TRIM26_uc003nps.2_Missense_Mutation_p.R128P|TRIM26_uc010jry.2_5'UTR|TRIM26_uc003npt.2_Missense_Mutation_p.R128P|TRIM26_uc003npu.1_Missense_Mutation_p.R128P	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	128	B box-type.						DNA binding|zinc ion binding			ovary(2)|lung(1)	3						CCTGTGCTCCCGGGACTCCCG	0.642		NA											11	14					0	0	0	0
ANKS1A	23294	broad.mit.edu	37	6	34949518	34949518	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:34949518G>C	uc003ojx.3	+	4	629	c.487G>C	c.(487-489)GAG>CAG	p.E163Q	ANKS1A_uc011dss.1_Missense_Mutation_p.E163Q|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR|ANKS1A_uc010jvr.1_RNA	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	163	ANK 3.					cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4						TGGCCACACAGAGGTGGTGAA	0.542		NA											21	41					0	0	0	0
ZFAND3	60685	broad.mit.edu	37	6	38120124	38120124	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:38120124G>C	uc003onx.2	+	6	1058	c.643G>C	c.(643-645)GTG>CTG	p.V215L		NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	215							DNA binding|zinc ion binding			ovary(1)	1						GGACCGGAAAGTGGGGCGCTC	0.577		NA											69	67					0	0	0	0
KLHDC3	116138	broad.mit.edu	37	6	42985674	42985674	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:42985674A>C	uc003otl.2	+	4	584	c.415A>C	c.(415-417)ATC>CTC	p.I139L	KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Missense_Mutation_p.I139L|KLHDC3_uc003otn.2_Intron|KLHDC3_uc003oto.2_Missense_Mutation_p.I80L	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	139	Kelch 3.				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			upper_aerodigestive_tract(1)	1			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCTAGGCAAGATCATGTACAT	0.512		NA											27	77					0	0	0	0
GSTA4	2941	broad.mit.edu	37	6	52847396	52847396	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:52847396G>A	uc003pbc.2	-	5	586	c.522C>T	c.(520-522)ATC>ATT	p.I174I	GSTA4_uc003pbd.2_Silent_p.I81I|GSTA4_uc003pbe.2_Silent_p.I81I|GSTA4_uc003pbf.2_Silent_p.I174I	NM_001512	NP_001503	O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	174	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity				0	Lung NSC(77;0.103)				Glutathione(DB00143)	ATGCAGACAGGATATTAGGAA	0.408		NA											19	39					0	0	0	0
FHL5	9457	broad.mit.edu	37	6	97063544	97063544	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:97063544A>G	uc003pos.1	+	7	1156	c.751A>G	c.(751-753)AAC>GAC	p.N251D	FHL5_uc003pot.1_Missense_Mutation_p.N251D	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	activator of cAMP-responsive element modulator	251	LIM zinc-binding 4.					nucleus	zinc ion binding			ovary(2)	2		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CGAATGCTTTAACTGCGGGAA	0.428		NA											8	53					0	0	0	0
GRIK2	2898	broad.mit.edu	37	6	102503442	102503442	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:102503442C>A	uc003pqp.3	+	15	2798	c.2549C>A	c.(2548-2550)GCT>GAT	p.A850D	GRIK2_uc003pqo.3_Missense_Mutation_p.A850D|GRIK2_uc010kcw.2_Missense_Mutation_p.A850D	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	850	Cytoplasmic (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AAAAAAAACGCTCAATTGGAA	0.328		NA											20	100					9.96e-16	1.14e-15	1	0
HECA	51696	broad.mit.edu	37	6	139495643	139495643	+	Silent	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:139495643C>T	uc003qin.2	+	3	1719	c.1434C>T	c.(1432-1434)ACC>ACT	p.T478T		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	478					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CTATGTACACCTACGACATCC	0.547		NA											12	131					0	0	0	0
SUN1	23353	broad.mit.edu	37	7	912967	912967	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:912967G>A	uc011jvp.1	+	20	2436	c.2357G>A	c.(2356-2358)TGA>TAA	p.*786*	GET4_uc003sjj.1_Intron|SUN1_uc003sjf.2_Silent_p.*703*|SUN1_uc011jvq.1_Silent_p.*683*|SUN1_uc003sjg.2_Silent_p.*691*|SUN1_uc011jvr.1_Silent_p.*584*|SUN1_uc003sji.2_Silent_p.*624*|SUN1_uc003sjk.2_Silent_p.*425*	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	786	Perinuclear space.|SUN.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						CCTGTCAAGTGAAGACACTAC	0.423		NA									OREG0017816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	67					0	0	0	0
CARD11	84433	broad.mit.edu	37	7	2987368	2987368	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:2987368C>T	uc003smv.2	-	3	465	c.61G>A	c.(61-63)GCC>ACC	p.A21T		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	21	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCCACAAGGCGTCCTCTTCA	0.498		NA	Mis		DLBCL								27	99					0	0	0	0
PMS2	5395	broad.mit.edu	37	7	6043690	6043690	+	Splice_Site	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:6043690C>G	uc003spl.2	-	3	251	c.164_splice	c.e3-1	p.D55_splice	PMS2_uc003spj.2_Splice_Site|PMS2_uc003spk.2_Splice_Site|PMS2_uc011jwl.1_Splice_Site|PMS2_uc010ktg.2_Splice_Site|PMS2_uc010kte.2_Splice_Site_p.D55_splice|PMS2_uc010ktf.1_Splice_Site_p.D55_splice	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform						mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGCTTTAGATCTAGAAAGttt	0.289		NA	Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				33	78					0	0	0	0
ZNF12	7559	broad.mit.edu	37	7	6731676	6731676	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:6731676A>T	uc003sqt.1	-	5	1451	c.897T>A	c.(895-897)TGT>TGA	p.C299*	ZNF12_uc011jxa.1_Nonsense_Mutation_p.C137*|ZNF12_uc003sqs.1_Nonsense_Mutation_p.C261*	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	299	C2H2-type 2.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CACACTGATTACATTCGTAAG	0.423		NA											70	51					0	0	0	0
WIPF3	644150	broad.mit.edu	37	7	29923502	29923502	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:29923502C>T	uc003taj.1	+	4	392	c.392C>T	c.(391-393)CCC>CTC	p.P131L		NM_001080529	NP_001073998	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	131										ovary(1)	1						TCCCGCGCGCCCTCTCCCAGG	0.627		NA											6	18					0	0	0	0
DDX56	54606	broad.mit.edu	37	7	44610375	44610375	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:44610375C>T	uc003tlg.2	-	7	1635	c.992G>A	c.(991-993)CGA>CAA	p.R331Q	DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Missense_Mutation_p.R267Q|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Intron|DDX56_uc010kyh.1_RNA	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 56	331	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			upper_aerodigestive_tract(1)	1						TTTGGGCCCTCGGCCCCGACG	0.527		NA											32	75					0	0	0	0
PKD1L1	168507	broad.mit.edu	37	7	47924243	47924243	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:47924243T>C	uc003tny.1	-	19	3218	c.3218A>G	c.(3217-3219)TAT>TGT	p.Y1073C		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1073	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GTCACTGTAATAGGCTTCAAA	0.448		NA											9	29					0	0	0	0
IKZF1	10320	broad.mit.edu	37	7	50358680	50358680	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:50358680A>G	uc003tow.3	+	3	191	c.23A>G	c.(22-24)GAC>GGC	p.D8G	IKZF1_uc003tox.3_Missense_Mutation_p.D8G|IKZF1_uc003toy.3_Missense_Mutation_p.D8G|IKZF1_uc011kck.1_Missense_Mutation_p.D8G|IKZF1_uc003tov.1_Missense_Mutation_p.D8G	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	8					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(24)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GAGGGTCAAGACATGTCCCAA	0.438		NA	D		ALL								45	138					0	0	0	0
IKZF1	10320	broad.mit.edu	37	7	50450284	50450284	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:50450284G>A	uc003tow.3	+	6	636	c.468G>A	c.(466-468)CAG>CAA	p.Q156Q	IKZF1_uc003tox.3_Silent_p.Q156Q|IKZF1_uc003toy.3_Silent_p.Q156Q|IKZF1_uc011kck.1_Silent_p.Q69Q|IKZF1_uc003toz.3_Silent_p.Q126Q|IKZF1_uc010kyx.2_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	156	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).|C2H2-type 2.				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(74)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CATTCACCCAGAAGGGCAACC	0.612		NA	D		ALL								7	21					0	0	0	0
POM121	9883	broad.mit.edu	37	7	72413639	72413639	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:72413639C>T	uc003twk.2	+	11	3107	c.3107C>T	c.(3106-3108)TCG>TTG	p.S1036L	POM121_uc003twj.2_Missense_Mutation_p.S771L|POM121_uc010lam.1_Missense_Mutation_p.S771L	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	1036	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)				GCCACGCACTCGGCGTTTGGG	0.652		NA											10	63					0	0	0	0
HIP1	3092	broad.mit.edu	37	7	75168691	75168691	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:75168691G>A	uc003uds.1	-	30	3054	c.3013C>T	c.(3013-3015)CGG>TGG	p.R1005W	HIP1_uc011kfz.1_Missense_Mutation_p.R831W	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	1005	I/LWEQ.			R->E: Reduces AR-induced nuclear translocation.	activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						TGCTTTTTCCGAAGCTCTCCC	0.502		NA	T	PDGFRB	CMML								85	293					0	0	0	0
PCLO	27445	broad.mit.edu	37	7	82585126	82585126	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:82585126C>G	uc003uhx.2	-	5	5432	c.5143G>C	c.(5143-5145)GAG>CAG	p.E1715Q	PCLO_uc003uhv.2_Missense_Mutation_p.E1715Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1646					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GAAGATCCCTCTCCCCTTGAC	0.463		NA											21	48					0	0	0	0
STEAP4	79689	broad.mit.edu	37	7	87908865	87908865	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:87908865A>T	uc003ujs.2	-	5	1333	c.1228T>A	c.(1228-1230)TCA>ACA	p.S410T	STEAP4_uc010lek.2_Missense_Mutation_p.S234T	NM_024636	NP_078912	Q687X5	STEA4_HUMAN	tumor necrosis factor, alpha-induced protein 9	410					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	Esophageal squamous(14;0.00802)					CTGAGATTTGAAGGGCTGAGG	0.448		NA											22	32					0	0	0	0
AKAP9	10142	broad.mit.edu	37	7	91695764	91695764	+	Silent	SNP	T	T	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:91695764T>C	uc003ulg.2	+	26	6459	c.6234T>C	c.(6232-6234)CAT>CAC	p.H2078H	AKAP9_uc003ulf.2_Silent_p.H2078H|AKAP9_uc003uli.2_Silent_p.H1701H	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2090	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAGAGAACATGAGAGAGATG	0.358		NA	T	BRAF	papillary thyroid								15	58					0	0	0	0
LRRN3	54674	broad.mit.edu	37	7	110763135	110763135	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:110763135A>T	uc003vft.3	+	4	1353	c.307A>T	c.(307-309)AAT>TAT	p.N103Y	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.N103Y|LRRN3_uc003vfs.3_Missense_Mutation_p.N103Y	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	103	Extracellular (Potential).|LRR 2.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ATCTCAAAACAATTTATCTTC	0.353		NA											5	35					0	0	0	0
MGAM	8972	broad.mit.edu	37	7	141797392	141797392	+	Splice_Site	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:141797392G>C	uc003vwy.2	+	43	5059	c.5005_splice	c.e43-1	p.N1669_splice		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase						polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTCATTTTAGAATGCCAGAA	0.353		NA											16	36					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	114110999	114110999	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:114110999C>A	uc003ynu.2	-	5	1062	c.903G>T	c.(901-903)GAG>GAT	p.E301D	CSMD3_uc003ynt.2_Missense_Mutation_p.E261D|CSMD3_uc011lhx.1_Missense_Mutation_p.E301D|CSMD3_uc010mcx.1_Missense_Mutation_p.E301D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	301	Extracellular (Potential).|CUB 2.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TGGTAGGTGGCTCAGAACCTT	0.363		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	60					0.00909568	0.00949598	1	0
OC90	729330	broad.mit.edu	37	8	133048660	133048660	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:133048660C>A	uc003ytg.2	-	8	637	c.637G>T	c.(637-639)GCA>TCA	p.A213S	OC90_uc011lix.1_Intron	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	229					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TCAGTCTCTGCAGCCACTGTG	0.463		NA											16	100					0.000566183	0.000604401	1	0
KCNQ3	3786	broad.mit.edu	37	8	133153390	133153390	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:133153390C>A	uc003ytj.2	-	10	1676	c.1451G>T	c.(1450-1452)TGG>TTG	p.W484L	KCNQ3_uc010mdt.2_Missense_Mutation_p.W484L	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	484					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGAACTCTGCCAGAAAGCGTA	0.493		NA											36	81					1.7e-12	1.92e-12	1	0
TRAPPC9	83696	broad.mit.edu	37	8	140744287	140744287	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:140744287C>T	uc003yvj.2	-	22	3348	c.3214G>A	c.(3214-3216)GTG>ATG	p.V1072M	TRAPPC9_uc003yvh.2_Missense_Mutation_p.V1170M	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	1072					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						TAGTTGTGCACGCCGTTCTGG	0.682		NA											3	16					0	0	0	0
TOP1MT	116447	broad.mit.edu	37	8	144406249	144406249	+	Missense_Mutation	SNP	G	G	A	rs144092447		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:144406249G>A	uc003yxz.2	-	7	899	c.880C>T	c.(880-882)CGC>TGC	p.R294C	TOP1MT_uc011lkd.1_Missense_Mutation_p.R196C|TOP1MT_uc011lke.1_Missense_Mutation_p.R196C|TOP1MT_uc010mfb.2_Missense_Mutation_p.R196C|TOP1MT_uc011lkf.1_Missense_Mutation_p.R89C|TOP1MT_uc010mfd.1_Missense_Mutation_p.R89C	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	294					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TACTGGGAGCGGATCTCGTCC	0.527		NA											4	206					0	0	0	0
EPPK1	83481	broad.mit.edu	37	8	144947143	144947143	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:144947143G>A	uc003zaa.1	-	1	292	c.279C>T	c.(277-279)CTC>CTT	p.L93L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	93	Plectin 2.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGACACAGGGAGCAGCTGGC	0.701		NA											5	24					0	0	0	0
PTPRD	5789	broad.mit.edu	37	9	8525016	8525016	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:8525016C>G	uc003zkk.2	-	17	1299	c.588G>C	c.(586-588)CAG>CAC	p.Q196H	PTPRD_uc003zkp.2_Missense_Mutation_p.Q196H|PTPRD_uc003zkq.2_Missense_Mutation_p.Q196H|PTPRD_uc003zkr.2_Missense_Mutation_p.Q190H|PTPRD_uc003zks.2_Missense_Mutation_p.Q190H|PTPRD_uc003zkl.2_Missense_Mutation_p.Q196H|PTPRD_uc003zkm.2_Missense_Mutation_p.Q187H|PTPRD_uc003zkn.2_Missense_Mutation_p.Q196H|PTPRD_uc003zko.2_Missense_Mutation_p.Q193H	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	196	Extracellular (Potential).|Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACTCTTCACTCTGCTCAATCT	0.338		NA								TSP Lung(15;0.13)			41	115					0	0	0	0
PSIP1	11168	broad.mit.edu	37	9	15472711	15472711	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:15472711C>G	uc003zlv.3	-	10	1226	c.896G>C	c.(895-897)AGA>ACA	p.R299T	PSIP1_uc003zlw.3_Missense_Mutation_p.R299T|PSIP1_uc003zlz.3_Missense_Mutation_p.R299T|PSIP1_uc003zma.3_Missense_Mutation_p.R290T|PSIP1_uc003zly.2_Missense_Mutation_p.R299T	NM_033222	NP_150091	O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1 isoform 2	299					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(1)	1				GBM - Glioblastoma multiforme(50;2.38e-06)		CATATTCCTTCTGTGAGCAGT	0.373		NA											37	51					0	0	0	0
NOL8	55035	broad.mit.edu	37	9	95062242	95062242	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:95062242G>A	uc004arv.2	-	14	3569	c.3232C>T	c.(3232-3234)CGT>TGT	p.R1078C	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Missense_Mutation_p.R310C|NOL8_uc011ltw.1_Missense_Mutation_p.R1010C	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	1078					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						TCTTGTAAACGAGGGTCTTCC	0.413		NA											74	131					0	0	0	0
GRIN3A	116443	broad.mit.edu	37	9	104375732	104375732	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:104375732C>A	uc004bbp.1	-	6	3293	c.2692G>T	c.(2692-2694)GGG>TGG	p.G898W	GRIN3A_uc004bbq.1_Missense_Mutation_p.G898W	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	898	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TCCATAAACCCATGTGACTTG	0.463		NA											22	8					2.28e-19	2.63e-19	1	0
GRIN3A	116443	broad.mit.edu	37	9	104432608	104432608	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:104432608C>T	uc004bbp.1	-	3	2687	c.2086G>A	c.(2086-2088)GAA>AAA	p.E696K	GRIN3A_uc004bbq.1_Missense_Mutation_p.E696K	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	696	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTCTTCCATTCATACAGAGTG	0.488		NA											29	77					0	0	0	0
C9orf50	375759	broad.mit.edu	37	9	132375462	132375462	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:132375462G>A	uc004byc.3	-	6	1314	c.1112C>T	c.(1111-1113)TCA>TTA	p.S371L	C9orf50_uc004byb.3_RNA	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN	hypothetical protein LOC375759	371										ovary(1)|central_nervous_system(1)	2		Ovarian(14;0.00556)				CTTCTTCCATGAACAGAAGGG	0.607		NA											11	33					0	0	0	0
COL5A1	1289	broad.mit.edu	37	9	137715309	137715309	+	Silent	SNP	C	C	A	rs61735501	byFrequency	TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:137715309C>A	uc004cfe.2	+	61	5074	c.4692C>A	c.(4690-4692)GGC>GGA	p.G1564G	uc004cff.2_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1564	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GACCCCCAGGCCCCCCGGTAA	0.597		NA											26	50					1.74e-06	1.9e-06	1	0
GLT6D1	360203	broad.mit.edu	37	9	138531020	138531020	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:138531020C>G	uc010nbd.1	-	2	268	c.14G>C	c.(13-15)AGA>ACA	p.R5T		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	5	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			ovary(1)	1		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TAACAGCATTCTTTTAGAATT	0.289		NA											13	32					0	0	0	0
PRDX4	10549	broad.mit.edu	37	X	23700512	23700512	+	Splice_Site	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chrX:23700512G>A	uc004dam.2	+	5	643	c.600_splice	c.e5-1	p.R200_splice		NM_006406	NP_006397	Q13162	PRDX4_HUMAN	peroxiredoxin 4						cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			upper_aerodigestive_tract(1)	1						CTGTTTTACAGAGGTCTCTTC	0.368		NA											16	25					0	0	0	0
RPGR	6103	broad.mit.edu	37	X	38145068	38145068	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chrX:38145068C>G	uc004ded.1	-	15	3352	c.3184G>C	c.(3184-3186)GAG>CAG	p.E1062Q	RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform C	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						tcttcctcctcctcttctctg	0.189		NA											39	31					0	0	0	0
HUWE1	10075	broad.mit.edu	37	X	53631658	53631658	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chrX:53631658G>A	uc004dsp.2	-	26	3036	c.2634C>T	c.(2632-2634)GGC>GGT	p.G878G		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	878					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CAGCAACATTGCCTGCGCAAG	0.562		NA											8	17					0	0	0	0
LCE4A	199834	broad.mit.edu	37	1	152681693	152681698	+	In_Frame_Del	DEL	TGTGGT	TGTGGT	-	rs113617356		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:152681693_152681698delTGTGGT	uc001fak.2	+	1	171_176	c.142_147delTGTGGT	c.(142-147)TGTGGTdel	p.CG48del		NM_178356	NP_848133	Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	48_49	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CTCTGGGGGCTGTGGTTGCTGCAGCT	0.578		NA											7	203	---	---	---	---	NA	NA	NA	NA
TMEM81	388730	broad.mit.edu	37	1	205052694	205052694	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:205052694delC	uc001hbt.2	-	1	895	c.755delG	c.(754-756)GGCfs	p.G252fs		NM_203376	NP_976310	Q6P7N7	TMM81_HUMAN	transmembrane protein 81 precursor	252	Cytoplasmic (Potential).					integral to membrane					0	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTGCTGCAGGCCCCCCCTTAG	0.537		NA											7	181	---	---	---	---	NA	NA	NA	NA
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:214557049_214557051delCCT	uc001hkk.1	-	13	2418_2420	c.2147_2149delAGG	c.(2146-2151)GAGGCT>GCT	p.E716del	PTPN14_uc010pty.1_In_Frame_Del_p.E617del	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	716	Poly-Glu.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626		NA											10	189	---	---	---	---	NA	NA	NA	NA
DUSP5	1847	broad.mit.edu	37	10	112266854	112266854	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:112266854delG	uc001kzd.2	+	3	945	c.690delG	c.(688-690)GTGfs	p.V230fs		NM_004419	NP_004410	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	230	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GGATCCCTGTGGAAGACAGCC	0.542		NA											82	102	---	---	---	---	NA	NA	NA	NA
CWF19L2	143884	broad.mit.edu	37	11	107207441	107207442	+	Splice_Site	INS	-	-	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:107207441_107207442insA	uc010rvp.1	-	15	2233	c.2203_splice	c.e15-1	p.M735_splice	CWF19L2_uc001pjh.3_Splice_Site|CWF19L2_uc009yxo.2_Splice_Site	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control								catalytic activity				0		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TCTGAACATCTAAAAAAAAAAA	0.257		NA											2	4	---	---	---	---	NA	NA	NA	NA
SI	6476	broad.mit.edu	37	3	164733816	164733817	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:164733816_164733817insT	uc003fei.2	-	32	3873_3874	c.3811_3812insA	c.(3811-3813)ATTfs	p.I1271fs		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1271	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGCTTCACCAATTGTAAAGTCT	0.366		NA								HNSCC(35;0.089)			162	289	---	---	---	---	NA	NA	NA	NA
NCOA7	135112	broad.mit.edu	37	6	126210254	126210258	+	Frame_Shift_Del	DEL	GAGAA	GAGAA	-			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:126210254_126210258delGAGAA	uc010kes.2	+	11	1503_1507	c.1054_1058delGAGAA	c.(1054-1059)GAGAAGfs	p.E352fs	NCOA7_uc003qae.3_Frame_Shift_Del_p.E352fs|NCOA7_uc003qah.2_Frame_Shift_Del_p.E341fs|NCOA7_uc003qai.2_Frame_Shift_Del_p.E352fs|NCOA7_uc010ket.2_Frame_Shift_Del_p.E237fs	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	352_353					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		AGTACCTTTGGAGAAGTCCACAGGA	0.434		NA											41	78	---	---	---	---	NA	NA	NA	NA
ZNF41	7592	broad.mit.edu	37	X	47306830	47306831	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chrX:47306830_47306831delCA	uc004dhs.3	-	4	2531_2532	c.2464_2465delTG	c.(2464-2466)TGAfs	p.*822fs	ZNF41_uc004dhu.3_Frame_Shift_Del_p.*814fs|ZNF41_uc004dht.3_Frame_Shift_Del_p.*694fs|ZNF41_uc004dhv.3_Frame_Shift_Del_p.*790fs|ZNF41_uc004dhw.3_Frame_Shift_Del_p.*782fs|ZNF41_uc004dhy.3_Frame_Shift_Del_p.*780fs|ZNF41_uc004dhx.3_Frame_Shift_Del_p.*780fs|ZNF41_uc011mlm.1_Frame_Shift_Del_p.*694fs	NM_153380	NP_700359	P51814	ZNF41_HUMAN	zinc finger protein 41	822						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3		all_lung(315;0.000129)				AAGACTTTCTCAGTCACTGGCT	0.431		NA											70	16	---	---	---	---	NA	NA	NA	NA