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
MMEL1	79258	broad.mit.edu	37	1	2523433	2523433	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:2523433C>A	uc001ajy.2	-	22	2315	c.2101G>T	c.(2101-2103)GAC>TAC	p.D701Y	MMEL1_uc009vlg.1_RNA	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	701	Lumenal (Potential).				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		AGCTGCTGGTCCTTGCCACCC	0.617		NA											31	11					4.42e-11	5.19e-11	1	0
PEX14	5195	broad.mit.edu	37	1	10690033	10690033	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:10690033G>C	uc001arn.2	+	9	1144	c.1123G>C	c.(1123-1125)GAG>CAG	p.E375Q	PEX14_uc009vmv.2_Missense_Mutation_p.E311Q|PEX14_uc010oam.1_Missense_Mutation_p.E311Q|PEX14_uc010oan.1_Missense_Mutation_p.E332Q|PEX14_uc009vmw.2_Missense_Mutation_p.E311Q	NM_004565	NP_004556	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	375					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(1)	1	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		CAACGAGAGTGAGCGGGACTA	0.706		NA											5	19					0	0	0	0
KCNQ4	9132	broad.mit.edu	37	1	41303381	41303381	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:41303381G>A	uc001cgh.1	+	13	1872	c.1790G>A	c.(1789-1791)CGG>CAG	p.R597Q	KCNQ4_uc001cgi.1_Missense_Mutation_p.R543Q	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	potassium voltage-gated channel KQT-like protein	597	Cytoplasmic.|A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			AGGAAGGCCCGGGAGAAGGGC	0.642		NA											8	9					0	0	0	0
GBP6	163351	broad.mit.edu	37	1	89834114	89834114	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:89834114G>T	uc001dnf.2	+	2	278	c.4G>T	c.(4-6)GAA>TAA	p.E2*	GBP6_uc010ost.1_Intron	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	2							GTP binding|GTPase activity			ovary(2)	2		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AGTTGCCATGGAATCTGGACC	0.443		NA											15	29					3.46e-05	3.81e-05	1	0
DENND4B	9909	broad.mit.edu	37	1	153907346	153907346	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:153907346C>T	uc001fdd.1	-	18	3064	c.2663G>A	c.(2662-2664)CGC>CAC	p.R888H	uc001fdc.1_RNA	NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	888	Gln-rich.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAAGGGCTGGCGGAACTGAGC	0.453		NA											20	117					0	0	0	0
ANGEL2	90806	broad.mit.edu	37	1	213186481	213186481	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:213186481C>G	uc001hjz.2	-	2	494	c.339G>C	c.(337-339)ATG>ATC	p.M113I	ANGEL2_uc010pto.1_Intron|ANGEL2_uc010ptp.1_Intron|ANGEL2_uc001hka.2_Intron|ANGEL2_uc010ptq.1_Intron|ANGEL2_uc001hkb.2_Missense_Mutation_p.M91I	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN	LOC90806 protein	113											0				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CCTCAGCGTTCATGACGTAAC	0.408		NA											17	73					0	0	0	0
PGBD2	267002	broad.mit.edu	37	1	249210815	249210815	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:249210815G>A	uc001ifh.2	+	3	179	c.32G>A	c.(31-33)GGG>GAG	p.G11E	PGBD2_uc001ifg.2_Intron|PGBD2_uc009xhd.2_Missense_Mutation_p.G8E	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	hypothetical protein LOC267002 isoform a	11										ovary(1)	1	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GTCATTGCTGGGAGAGGTATC	0.463		NA											12	17					0	0	0	0
RET	5979	broad.mit.edu	37	10	43601966	43601966	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:43601966A>T	uc001jal.2	+	5	1200	c.1010A>T	c.(1009-1011)GAG>GTG	p.E337V	RET_uc001jak.1_Missense_Mutation_p.E337V|RET_uc010qez.1_Missense_Mutation_p.E83V	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	337	Extracellular (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	TGGCCCAACGAGACCTCGGTC	0.652		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				6	11					0	0	0	0
FAM21C	253725	broad.mit.edu	37	10	46222872	46222872	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:46222872G>C	uc001jcu.2	+	2	110	c.11G>C	c.(10-12)CGG>CCG	p.R4P	FAM21C_uc001jcs.1_Missense_Mutation_p.R4P|FAM21C_uc001jct.2_Missense_Mutation_p.R4P|FAM21C_uc010qfi.1_Missense_Mutation_p.R4P	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	hypothetical protein LOC253725	4										ovary(1)	1						CAGATGAACCGGACGACCCCC	0.721		NA											3	13					0	0	0	0
ARID5B	84159	broad.mit.edu	37	10	63851485	63851485	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:63851485G>A	uc001jlt.1	+	10	2289	c.2263G>A	c.(2263-2265)GTC>ATC	p.V755I		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	755					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					GATTCAGCACGTCCAGAGTTT	0.512		NA											5	90					0	0	0	0
TTC18	118491	broad.mit.edu	37	10	75051479	75051480	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:75051479_75051480CC>TT	uc009xrc.2	-	19	2269_2270	c.2148_2149GG>AA	c.(2146-2151)TTGGAG>TTAAAG	p.E717K	TTC18_uc001jty.2_Missense_Mutation_p.E717K|TTC18_uc001jtv.3_5'Flank|TTC18_uc001jtw.3_5'Flank|TTC18_uc001jtx.2_Missense_Mutation_p.E98K	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	717	TPR 3.						binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)					TCATAGTTCTCCAACAGGACAG	0.406		NA											4	20					0	0	0	0
CNNM1	26507	broad.mit.edu	37	10	101117299	101117299	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:101117299T>A	uc001kpp.3	+	2	1893	c.1604T>A	c.(1603-1605)GTG>GAG	p.V535E	CNNM1_uc009xwe.2_Missense_Mutation_p.V535E|CNNM1_uc010qpi.1_Missense_Mutation_p.V535E|CNNM1_uc009xwf.2_Missense_Mutation_p.V535E|CNNM1_uc009xwg.2_5'Flank	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	535	CBS 2.				ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GTCCAGCGGGTGAATAATGAG	0.433		NA											6	13					0	0	0	0
DNMBP	23268	broad.mit.edu	37	10	101639864	101639864	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:101639864G>C	uc001kqj.2	-	16	4344	c.4252C>G	c.(4252-4254)CTC>GTC	p.L1418V	DNMBP_uc010qpl.1_Missense_Mutation_p.L354V|DNMBP_uc001kqg.2_Missense_Mutation_p.L706V|DNMBP_uc001kqh.2_Missense_Mutation_p.L1050V	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1418	Ser-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GATGCACTGAGAGTTCCTTGG	0.537		NA											16	78					0	0	0	0
DNMBP	23268	broad.mit.edu	37	10	101715220	101715220	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:101715220C>G	uc001kqj.2	-	4	2103	c.2011G>C	c.(2011-2013)GAG>CAG	p.E671Q	NCRNA00093_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	671					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCTAAGGTCTCACAGGTAGGA	0.597		NA											9	32					0	0	0	0
DNMBP	23268	broad.mit.edu	37	10	101715433	101715433	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:101715433C>G	uc001kqj.2	-	4	1890	c.1798G>C	c.(1798-1800)GAG>CAG	p.E600Q	NCRNA00093_uc001kqk.1_RNA	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	600					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCCGGCAGCTCCTGCTCGGTG	0.502		NA											9	36					0	0	0	0
TIAL1	7073	broad.mit.edu	37	10	121339445	121339445	+	Splice_Site	SNP	A	A	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:121339445A>T	uc001lei.1	-	6	1011	c.447_splice	c.e6+1	p.L149_splice	TIAL1_uc001leh.1_Splice_Site_p.L127_splice|TIAL1_uc001lej.1_Splice_Site_p.L166_splice|TIAL1_uc001lek.1_Splice_Site_p.L26_splice|TIAL1_uc009xzi.1_Splice_Site_p.L18_splice|TIAL1_uc010qtb.1_Splice_Site_p.L26_splice	NM_003252	NP_003243	Q01085	TIAR_HUMAN	TIA-1 related protein isoform 1						apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			ovary(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		GGAAGAACGTACCAGTTTGTT	0.313		NA											4	6					0	0	0	0
MICALCL	84953	broad.mit.edu	37	11	12379876	12379876	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:12379876G>A	uc001mkg.1	+	9	2229	c.1938G>A	c.(1936-1938)GAG>GAA	p.E646E		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	646	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)		TAAACGAAGAGCAAGAAGTAT	0.473		NA											34	72					0	0	0	0
LRP4	4038	broad.mit.edu	37	11	46911618	46911618	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:46911618C>T	uc001ndn.3	-	15	2115	c.1969G>A	c.(1969-1971)GAC>AAC	p.D657N		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	657	Extracellular (Potential).|LDL-receptor class B 5.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		GTGTGCCAGTCTGTCCAGTAC	0.517		NA									OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	89					0	0	0	0
OR4C12	283093	broad.mit.edu	37	11	50003589	50003589	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:50003589C>A	uc010ria.1	-	1	449	c.449G>T	c.(448-450)GGA>GTA	p.G150V		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	150	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						ATGAAGAAATCCTCCCACCCA	0.498		NA											62	100					5.53e-18	6.56e-18	1	0
ADRBK1	156	broad.mit.edu	37	11	67044773	67044773	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:67044773G>A	uc009yrn.1	+	2	410	c.144G>A	c.(142-144)GAG>GAA	p.E48E	ADRBK1_uc009yrm.1_Silent_p.E48E	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	48	N-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGTACCTGGAGGACCGGGGCG	0.617		NA											4	162					0	0	0	0
DLG2	1740	broad.mit.edu	37	11	83641505	83641505	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:83641505G>T	uc001paj.2	-	10	1350	c.1047C>A	c.(1045-1047)AGC>AGA	p.S349R	DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Missense_Mutation_p.S316R|DLG2_uc010rsz.1_Missense_Mutation_p.S349R|DLG2_uc010rta.1_Missense_Mutation_p.S349R|DLG2_uc001pak.2_Missense_Mutation_p.S454R|DLG2_uc010rtb.1_Missense_Mutation_p.S316R|DLG2_uc001pal.1_Missense_Mutation_p.S349R|DLG2_uc001pam.1_Missense_Mutation_p.S388R	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	349						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGTTCACAGTGCTGTAAACAG	0.483		NA											20	8					1.26e-06	1.42e-06	1	0
MTNR1B	4544	broad.mit.edu	37	11	92714995	92714995	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:92714995G>A	uc001pdk.1	+	2	709	c.606G>A	c.(604-606)GCG>GCA	p.A202A		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	202	Helical; Name=5; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	AGTACACGGCGGCAGTGGTGG	0.607		NA											21	7					0	0	0	0
PRDM10	56980	broad.mit.edu	37	11	129794994	129794994	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:129794994C>A	uc001qfm.2	-	13	1905	c.1673G>T	c.(1672-1674)TGC>TTC	p.C558F	PRDM10_uc001qfj.2_Missense_Mutation_p.C472F|PRDM10_uc001qfk.2_Missense_Mutation_p.C468F|PRDM10_uc001qfl.2_Missense_Mutation_p.C472F|PRDM10_uc010sbx.1_Missense_Mutation_p.C468F|PRDM10_uc001qfn.2_Missense_Mutation_p.C554F	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GGTCAGTGGGCAGTTCCCCTC	0.527		NA											40	25					3.09e-21	3.71e-21	1	0
CHD4	1108	broad.mit.edu	37	12	6691342	6691342	+	Silent	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:6691342G>C	uc001qpo.2	-	30	4640	c.4476C>G	c.(4474-4476)GTC>GTG	p.V1492V	CHD4_uc001qpn.2_Silent_p.V1485V|CHD4_uc001qpp.2_Silent_p.V1517V|uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1492					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTCTAGTAAGGACATGCTGGC	0.453		NA											8	55					0	0	0	0
RERG	85004	broad.mit.edu	37	12	15262053	15262053	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:15262053G>A	uc001rcs.2	-	4	731	c.591C>T	c.(589-591)ATC>ATT	p.I197I	RERG_uc001rct.2_Silent_p.I197I|RERG_uc010shu.1_Silent_p.I178I	NM_032918	NP_116307	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	197					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			lung(1)	1						CCTAACTACTGATTTTGGTGA	0.493		NA											16	220					0	0	0	0
PAN2	9924	broad.mit.edu	37	12	56721836	56721836	+	Silent	SNP	T	T	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:56721836T>A	uc001skx.2	-	5	967	c.594A>T	c.(592-594)GGA>GGT	p.G198G	PAN2_uc001skz.2_Silent_p.G198G|PAN2_uc001sky.2_Silent_p.G198G	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	198					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						TGATGGTGACTCCAGGCGTCT	0.517		NA											12	19					0	0	0	0
NAV3	89795	broad.mit.edu	37	12	78562566	78562566	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:78562566T>C	uc001syp.2	+	24	5074	c.4901T>C	c.(4900-4902)ATT>ACT	p.I1634T	NAV3_uc001syo.2_Missense_Mutation_p.I1634T|NAV3_uc010sub.1_Missense_Mutation_p.I1120T|NAV3_uc009zsf.2_Missense_Mutation_p.I465T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1634	Potential.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						AGAGAAACCATTGAAATGCTG	0.413		NA								HNSCC(70;0.22)			7	41					0	0	0	0
ACSS3	79611	broad.mit.edu	37	12	81503433	81503433	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:81503433C>T	uc001szl.1	+	2	497	c.406C>T	c.(406-408)CCT>TCT	p.P136S	ACSS3_uc001szm.1_Missense_Mutation_p.P135S	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	136						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						CTATGACAGTCCTGTTACAAA	0.318		NA											7	24					0	0	0	0
PPFIA2	8499	broad.mit.edu	37	12	81762520	81762520	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:81762520G>C	uc001szo.1	-	13	1627	c.1466C>G	c.(1465-1467)GCT>GGT	p.A489G	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	415										ovary(3)|lung(2)|pancreas(1)	6						TTCTAGAGCAGCCATTCTTTC	0.353		NA											12	70					0	0	0	0
RNF17	56163	broad.mit.edu	37	13	25451309	25451309	+	Silent	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr13:25451309C>G	uc001upr.2	+	34	4799	c.4758C>G	c.(4756-4758)CTC>CTG	p.L1586L	RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.L1582L|RNF17_uc001ups.2_Silent_p.L1525L|RNF17_uc010aac.2_Silent_p.L778L|RNF17_uc010aad.2_Silent_p.L596L	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1586					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAAAACAACTCTATGCTGTGT	0.418		NA											7	11					0	0	0	0
BRCA2	675	broad.mit.edu	37	13	32914805	32914805	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr13:32914805A>G	uc001uub.1	+	11	6540	c.6313A>G	c.(6313-6315)ATA>GTA	p.I2105V		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2105					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTATCAAAAATACTTCCTCG	0.328		NA	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			13	15					0	0	0	0
FNDC3A	22862	broad.mit.edu	37	13	49752754	49752754	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr13:49752754G>A	uc001vcm.2	+	14	1886	c.1581G>A	c.(1579-1581)GTG>GTA	p.V527V	FNDC3A_uc001vcn.2_Silent_p.V527V|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Silent_p.V453V|FNDC3A_uc001vcq.2_Silent_p.V471V	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	527	Fibronectin type-III 3.					Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTTACACAGTGAAAAATCTCA	0.343		NA											5	34					0	0	0	0
ATP11A	23250	broad.mit.edu	37	13	113439477	113439477	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr13:113439477G>T	uc001vsi.3	+	2	156	c.68G>T	c.(67-69)AGC>ATC	p.S23I	ATP11A_uc001vsj.3_Missense_Mutation_p.S23I|ATP11A_uc001vsm.1_5'UTR	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	23	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TGGGTGGACAGCAGGACCATC	0.572		NA									OREG0003855	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	47	37					4.44e-20	5.29e-20	1	0
PTPN21	11099	broad.mit.edu	37	14	88945294	88945294	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr14:88945294C>T	uc001xwv.3	-	13	2812	c.2481G>A	c.(2479-2481)AAG>AAA	p.K827K	PTPN21_uc010twc.1_Silent_p.K623K	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	827						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						CCACGATGTTCTTCTTCCCAG	0.647		NA											35	51					0	0	0	0
ATXN3	4287	broad.mit.edu	37	14	92563179	92563179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr14:92563179C>A	uc001yac.3	-	2	97	c.28G>T	c.(28-30)GAA>TAA	p.E10*	ATXN3_uc010aug.2_Nonsense_Mutation_p.E10*|ATXN3_uc001yad.3_Intron|ATXN3_uc010auh.2_Nonsense_Mutation_p.E10*|ATXN3_uc001yae.3_5'UTR|ATXN3_uc010twl.1_Intron	NM_004993	NP_004984	P54252	ATX3_HUMAN	ataxin 3 reference isoform	10	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		AGTGAGCCTTCTTGCTAATAT	0.299		NA											16	43					7.08e-05	7.72e-05	1	0
YY1	7528	broad.mit.edu	37	14	100706146	100706146	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr14:100706146G>A	uc001ygy.1	+	1	1045	c.565G>A	c.(565-567)GGG>AGG	p.G189R		NM_003403	NP_003394	P25490	TYY1_HUMAN	YY1 transcription factor	189					cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding				0		Melanoma(154;0.152)				cctcagcggcggggccggcgc	0.204		NA											5	12					0	0	0	0
CDAN1	146059	broad.mit.edu	37	15	43026218	43026218	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:43026218G>C	uc001zql.2	-	8	1402	c.1285C>G	c.(1285-1287)CAA>GAA	p.Q429E	CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_RNA	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	429						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GAGACAGCTTGAGTAGAGGGA	0.468		NA											16	8					0	0	0	0
CATSPER2	117155	broad.mit.edu	37	15	43939313	43939313	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:43939313G>A	uc001zsh.2	-	4	538	c.323C>T	c.(322-324)CCT>CTT	p.P108L	CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Missense_Mutation_p.P108L|CATSPER2_uc001zsj.2_Missense_Mutation_p.P108L|CATSPER2_uc001zsk.2_Missense_Mutation_p.P108L	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	sperm-associated cation channel 2 isoform 2	108	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			ovary(1)	1		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TTTGAAGAGAGGACCTGTTGT	0.358		NA											29	25					0	0	0	0
SPG11	80208	broad.mit.edu	37	15	44887540	44887540	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:44887540C>T	uc001ztx.2	-	26	4583	c.4552G>A	c.(4552-4554)GAG>AAG	p.E1518K	SPG11_uc010ueh.1_Missense_Mutation_p.E1518K|SPG11_uc010uei.1_Missense_Mutation_p.E1518K|SPG11_uc001zty.1_Missense_Mutation_p.E247K	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	1518	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GAAAGATCCTCAAGGTTCCAG	0.418		NA											28	25					0	0	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49320740	49320740	+	Silent	SNP	A	A	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:49320740A>G	uc001zxe.1	-	5	938	c.804T>C	c.(802-804)ATT>ATC	p.I268I	SECISBP2L_uc001zxd.1_Silent_p.I268I|SECISBP2L_uc010bep.1_Silent_p.I30I|SECISBP2L_uc010beq.1_Intron	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	268										breast(1)|skin(1)	2						TATCACTGTCAATGTCGGCTT	0.512		NA											14	12					0	0	0	0
ZNF592	9640	broad.mit.edu	37	15	85326988	85326988	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:85326988C>T	uc002bld.2	+	4	1418	c.1082C>T	c.(1081-1083)TCA>TTA	p.S361L	ZNF592_uc010upb.1_RNA	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	361					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(2)	6			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCAAAGGCTCACCGTCTGTG	0.527		NA											18	40					0	0	0	0
ALPK3	57538	broad.mit.edu	37	15	85405871	85405871	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:85405871G>A	uc002ble.2	+	10	4908	c.4741G>A	c.(4741-4743)GAA>AAA	p.E1581K	ALPK3_uc010upc.1_5'Flank	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1581					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTCAGTTGGAGAAGAGATTGA	0.572		NA											16	30					0	0	0	0
ALPK3	57538	broad.mit.edu	37	15	85405916	85405916	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:85405916G>A	uc002ble.2	+	10	4953	c.4786G>A	c.(4786-4788)GAC>AAC	p.D1596N	ALPK3_uc010upc.1_5'Flank	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1596	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGGTCTGGCTGACTCTGGCTG	0.582		NA											13	33					0	0	0	0
C15orf58	390637	broad.mit.edu	37	15	90785083	90785083	+	Missense_Mutation	SNP	G	G	C	rs35018599		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:90785083G>C	uc002bpc.2	+	4	1122	c.943G>C	c.(943-945)GCC>CCC	p.A315P		NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	hypothetical protein LOC390637	315					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity				0						AATTCTGTGGGCCCGGAAGTC	0.552		NA											27	32					0	0	0	0
PKD1	5310	broad.mit.edu	37	16	2164258	2164258	+	Silent	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:2164258G>C	uc002cos.1	-	11	2975	c.2766C>G	c.(2764-2766)CTC>CTG	p.L922L	PKD1_uc002cot.1_Silent_p.L922L	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	922	Extracellular (Potential).|PKD 3.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CCCGCAGGCTGAGGTTGGCCC	0.672		NA											7	18					0	0	0	0
PKD1	5310	broad.mit.edu	37	16	2166979	2166979	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:2166979G>A	uc002cos.1	-	7	1670	c.1461C>T	c.(1459-1461)TTC>TTT	p.F487F	PKD1_uc002cot.1_Silent_p.F487F	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	487	C-type lectin.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						TCTCCAGGCTGAAGGCCTCGC	0.711		NA											3	5					0	0	0	0
MKL2	57496	broad.mit.edu	37	16	14312825	14312825	+	Silent	SNP	A	A	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:14312825A>G	uc010uza.1	+	8	818	c.663A>G	c.(661-663)CCA>CCG	p.P221P	MKL2_uc002dcg.2_Silent_p.P221P|MKL2_uc002dch.2_Silent_p.P210P|MKL2_uc010uzb.1_Silent_p.P170P	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	210					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5						GTGAATCGCCATCTCCTGTGA	0.458		NA											8	28					0	0	0	0
PSMB10	5699	broad.mit.edu	37	16	67969351	67969351	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:67969351A>G	uc002eux.1	-	6	631	c.530T>C	c.(529-531)CTA>CCA	p.L177P		NM_002801	NP_002792	P40306	PSB10_HUMAN	proteasome beta 10 subunit proprotein	177					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|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		CCGGTCTTCTAGCACCGCCAG	0.647		NA											12	37					0	0	0	0
PLCG2	5336	broad.mit.edu	37	16	81971422	81971422	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:81971422C>T	uc002fgt.2	+	28	3264	c.3112C>T	c.(3112-3114)CTG>TTG	p.L1038L		NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	1038	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						GGGCTACGTTCTGCAGCCTGA	0.522		NA											23	21					0	0	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350644	89350644	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:89350644G>C	uc002fmx.1	-	9	2767	c.2306C>G	c.(2305-2307)TCA>TGA	p.S769*	ANKRD11_uc002fmy.1_Nonsense_Mutation_p.S769*|ANKRD11_uc002fnc.1_Nonsense_Mutation_p.S769*|ANKRD11_uc002fnb.1_Nonsense_Mutation_p.S726*	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	769	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCGGTCTTTTGATTTCTTCTT	0.348		NA											6	30					0	0	0	0
CD68	968	broad.mit.edu	37	17	7483025	7483025	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:7483025C>T	uc002ghv.2	+	1	221	c.30C>T	c.(28-30)GCC>GCT	p.A10A	CD68_uc002ghu.2_Silent_p.A10A	NM_001251	NP_001242	P34810	CD68_HUMAN	CD68 antigen isoform A	10						endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane					0						TCTCGGGGGCCCTGCTGGGGC	0.637		NA											3	11					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:7578403C>T	uc002gim.2	-	5	721	c.527G>A	c.(526-528)TGC>TAC	p.C176Y	TP53_uc002gig.1_Missense_Mutation_p.C176Y|TP53_uc002gih.2_Missense_Mutation_p.C176Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44Y|TP53_uc010cng.1_Missense_Mutation_p.C44Y|TP53_uc002gii.1_Missense_Mutation_p.C44Y|TP53_uc010cnh.1_Missense_Mutation_p.C176Y|TP53_uc010cni.1_Missense_Mutation_p.C176Y|TP53_uc002gij.2_Missense_Mutation_p.C176Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83Y|TP53_uc002gio.2_Missense_Mutation_p.C44Y|TP53_uc010vug.1_Missense_Mutation_p.C137Y	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	176	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGTGGGGGCAGCGCCTCAC	0.652		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	40					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	rs11540654		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:7579358C>A	uc002gim.2	-	4	523	c.329G>T	c.(328-330)CGT>CTT	p.R110L	TP53_uc002gig.1_Missense_Mutation_p.R110L|TP53_uc002gih.2_Missense_Mutation_p.R110L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.R110L|TP53_uc010cni.1_Missense_Mutation_p.R110L|TP53_uc002gij.2_Missense_Mutation_p.R110L|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.R71L|TP53_uc010cnk.1_Missense_Mutation_p.R125L	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	110	Interaction with HIPK1 (By similarity).||Interaction with WWOX.		R -> G (in a sporadic cancer; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R110L(24)|p.R110P(8)|p.0?(7)|p.R110fs*13(5)|p.R110C(4)|p.G59fs*23(3)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.F109_R110insXX(1)|p.G105_T125del21(1)|p.R110fs*18(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.R110S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAAGCCCAGACGGAAACCGTA	0.612		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			38	44					1.57e-10	1.83e-10	1	0
GLP2R	9340	broad.mit.edu	37	17	9774114	9774114	+	Silent	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:9774114C>G	uc002gmd.1	+	10	1107	c.1107C>G	c.(1105-1107)CTC>CTG	p.L369L		NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	369	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				lung(2)|ovary(1)	3					Glucagon recombinant(DB00040)	TTTCTAAGCTCAAAGCTCATC	0.398		NA											39	74					0	0	0	0
MYH3	4621	broad.mit.edu	37	17	10544406	10544406	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:10544406G>C	uc002gmq.1	-	18	2238	c.2161C>G	c.(2161-2163)CAA>GAA	p.Q721E		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	721	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						ACACACCTTTGTTTAAAATCG	0.453		NA											13	90					0	0	0	0
GGNBP2	79893	broad.mit.edu	37	17	34935812	34935812	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:34935812T>C	uc002hnb.2	+	8	1232	c.983T>C	c.(982-984)TTC>TCC	p.F328S	GGNBP2_uc002hna.2_Missense_Mutation_p.F328S|GGNBP2_uc002hnc.1_Missense_Mutation_p.F157S	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	328					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CAGATGCTTTTCTATCTTGGT	0.433		NA											26	95					0	0	0	0
HOXB7	3217	broad.mit.edu	37	17	46685394	46685394	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:46685394T>C	uc002inv.2	-	2	567	c.464A>G	c.(463-465)GAA>GGA	p.E155G		NM_004502	NP_004493	P09629	HXB7_HUMAN	homeobox B7	155	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GTAGTGAAATTCTTTCTCCAG	0.547		NA											42	54					0	0	0	0
C17orf28	283987	broad.mit.edu	37	17	72951930	72951930	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:72951930G>A	uc002jmj.3	-	13	1742	c.1593C>T	c.(1591-1593)TTC>TTT	p.F531F	C17orf28_uc002jmi.2_5'Flank|C17orf28_uc010wrs.1_Silent_p.F330F	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	531						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)					CCTCCAGGAGGAAGAAGACCA	0.587		NA											27	34					0	0	0	0
RNF213	57674	broad.mit.edu	37	17	78343325	78343325	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:78343325G>A	uc002jyh.1	+	20	6621	c.6398G>A	c.(6397-6399)CGC>CAC	p.R2133H	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.R515H	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGCATGCCCGCTTCCGGCAG	0.498		NA											4	102					0	0	0	0
MYOM1	8736	broad.mit.edu	37	18	3188882	3188882	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr18:3188882C>T	uc002klp.2	-	4	969	c.635G>A	c.(634-636)AGG>AAG	p.R212K	MYOM1_uc002klq.2_Missense_Mutation_p.R212K	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	212	6.|6 X 6 AA tandem repeats.					striated muscle myosin thick filament	structural constituent of muscle	p.R212R(1)		ovary(3)|central_nervous_system(1)|pancreas(1)	5						CGTGGACTGCCTGGATGCCGT	0.517		NA											4	48					0	0	0	0
LAMA3	3909	broad.mit.edu	37	18	21526172	21526172	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr18:21526172G>A	uc002kuq.2	+	70	9361	c.9275G>A	c.(9274-9276)GGA>GAA	p.G3092E	LAMA3_uc002kur.2_Missense_Mutation_p.G3036E|LAMA3_uc002kus.3_Missense_Mutation_p.G1483E|LAMA3_uc002kut.3_Missense_Mutation_p.G1427E	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	3092	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCCGGGAGGGAAGTTTGCCT	0.493		NA											7	44					0	0	0	0
XAB2	56949	broad.mit.edu	37	19	7685323	7685323	+	Missense_Mutation	SNP	C	C	T	rs4134865		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:7685323C>T	uc002mgx.2	-	16	2130	c.2104G>A	c.(2104-2106)GCG>ACG	p.A702T		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	702	HAT 14.				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						TGCCAGAACGCGCCGGTCGTC	0.657		NA						Direct_reversal_of_damage|NER					10	73					0	0	0	0
RAB3A	5864	broad.mit.edu	37	19	18313497	18313497	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:18313497G>C	uc002nie.2	-	2	223	c.54C>G	c.(52-54)AAC>AAG	p.N18K		NM_002866	NP_002857	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	18					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity				0						TGTAGTCGAAGTTCTGATCCG	0.582		NA									OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	99					0	0	0	0
CRTC1	23373	broad.mit.edu	37	19	18853806	18853806	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:18853806C>T	uc002nkb.3	+	2	301	c.213C>T	c.(211-213)ATC>ATT	p.I71I	CRTC1_uc010ebv.2_Silent_p.I71I	NM_015321	NP_056136	Q6UUV9	CRTC1_HUMAN	mucoepidermoid carcinoma translocated 1 isoform	71					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519						TGAACCAGATCGGGAGTGGCA	0.667		NA											17	25					0	0	0	0
ZNF43	7594	broad.mit.edu	37	19	21991574	21991574	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:21991574C>G	uc002nqj.2	-	4	1395	c.1265G>C	c.(1264-1266)GGA>GCA	p.G422A	ZNF43_uc010ecv.2_Missense_Mutation_p.G416A|ZNF43_uc002nql.2_Missense_Mutation_p.G416A|ZNF43_uc002nqm.2_Missense_Mutation_p.G416A|ZNF43_uc002nqk.2_Missense_Mutation_p.G352A	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GGGTTTCTCTCCAGTATGAGT	0.373		NA											7	44					0	0	0	0
ZNF227	7770	broad.mit.edu	37	19	44738977	44738977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:44738977C>T	uc002oyu.2	+	6	599	c.394C>T	c.(394-396)CAG>TAG	p.Q132*	ZNF227_uc010xwu.1_Nonsense_Mutation_p.Q81*|ZNF227_uc002oyv.2_Nonsense_Mutation_p.Q132*|ZNF227_uc010xwv.1_Nonsense_Mutation_p.Q81*|ZNF227_uc010xww.1_Nonsense_Mutation_p.Q53*|ZNF227_uc002oyw.2_Nonsense_Mutation_p.Q104*|ZNF227_uc010ejh.2_Nonsense_Mutation_p.Q125*|ZNF235_uc002oyx.1_RNA	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				CAGGTGTCTTCAGGGGAAGAG	0.373		NA											21	46					0	0	0	0
FBXO46	23403	broad.mit.edu	37	19	46215299	46215299	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:46215299G>A	uc002pcy.2	-	2	1580	c.1455C>T	c.(1453-1455)TTC>TTT	p.F485F	FBXO46_uc002pcz.2_Silent_p.F485F	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	485	F-box.						protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GCAGGAAGCTGAAGATCTTGA	0.632		NA											6	23					0	0	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121997182	121997182	+	Missense_Mutation	SNP	G	G	A	rs137971940		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr2:121997182G>A	uc002tmx.2	-	8	905	c.812C>T	c.(811-813)CCG>CTG	p.P271L	TFCP2L1_uc010flr.2_Missense_Mutation_p.P271L	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	271					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			pancreas(2)|ovary(1)	3	Renal(3;0.01)					GCTTGGGGACGGGGCGCTGTT	0.612		NA											21	24					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179484357	179484357	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr2:179484357C>G	uc010zfg.1	-	199	39207	c.38983G>C	c.(38983-38985)GAA>CAA	p.E12995Q	TTN_uc010zfh.1_Missense_Mutation_p.E6690Q|TTN_uc010zfi.1_Missense_Mutation_p.E6623Q|TTN_uc010zfj.1_Missense_Mutation_p.E6498Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13922							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)			CCTGCCAGTTCAAGCTTAGCT	0.383		NA											12	51					0	0	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802803	185802803	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr2:185802803G>A	uc002uph.2	+	4	3274	c.2680G>A	c.(2680-2682)GAA>AAA	p.E894K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	894						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						AACCAATGGTGAAACTGAGCA	0.403		NA											10	51					0	0	0	0
STAT4	6775	broad.mit.edu	37	2	191900890	191900890	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr2:191900890C>T	uc002usm.1	-	17	1824	c.1570G>A	c.(1570-1572)GTC>ATC	p.V524I	STAT4_uc002usn.1_Missense_Mutation_p.V524I|STAT4_uc010zgk.1_Missense_Mutation_p.V369I|STAT4_uc002uso.2_Missense_Mutation_p.V524I	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	524					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CAGCTCTCACCTGTAAGCTTC	0.423		NA											10	14					0	0	0	0
PASK	23178	broad.mit.edu	37	2	242078139	242078139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr2:242078139C>T	uc002wao.1	-	5	763	c.671G>A	c.(670-672)CGC>CAC	p.R224H	PASK_uc010zol.1_Missense_Mutation_p.R38H|PASK_uc010zom.1_Missense_Mutation_p.R224H|PASK_uc010fzl.1_Missense_Mutation_p.R224H|PASK_uc010zon.1_Missense_Mutation_p.R5H|PASK_uc002waq.2_Missense_Mutation_p.R224H	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	224					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.R224C(1)		ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCATAGGCGGCGCTCCTGCCG	0.572		NA											27	17					0	0	0	0
SLC12A5	57468	broad.mit.edu	37	20	44673612	44673612	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr20:44673612G>A	uc010zxl.1	+	12	1547	c.1471G>A	c.(1471-1473)GAA>AAA	p.E491K	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.E468K	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	491	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAGGTTTGGCGAAGCTGTGAA	0.567		NA											23	94					0	0	0	0
HUNK	30811	broad.mit.edu	37	21	33331187	33331187	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr21:33331187C>T	uc002yph.2	+	5	1139	c.779C>T	c.(778-780)ACG>ATG	p.T260M		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase	260	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2						TTGACCGGGACGCTGCCTTTC	0.542		NA											20	37					0	0	0	0
COL18A1	80781	broad.mit.edu	37	21	46925146	46925146	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr21:46925146C>T	uc011afs.1	+	35	4224	c.4203C>T	c.(4201-4203)CCC>CCT	p.P1401P	COL18A1_uc002zhg.2_Silent_p.P986P|COL18A1_uc002zhi.2_Silent_p.P1166P|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_5'UTR|COL18A1_uc002zhk.2_5'Flank	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1404	Triple-helical region 9 (COL9).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTCCCGGCCCCCCAGGCCCCC	0.731		NA											3	6					0	0	0	0
COL6A1	1291	broad.mit.edu	37	21	47423706	47423706	+	Missense_Mutation	SNP	G	G	C	rs149534094	byFrequency	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr21:47423706G>C	uc002zhu.1	+	35	2968	c.2866G>C	c.(2866-2868)GAG>CAG	p.E956Q	COL6A1_uc010gqd.1_Missense_Mutation_p.E287Q|COL6A1_uc002zhv.1_Missense_Mutation_p.E287Q|COL6A1_uc002zhw.1_Missense_Mutation_p.E50Q	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	956	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CGCTGCCATCGAGAAGGCCGT	0.672		NA											8	73					0	0	0	0
FAM116B	414918	broad.mit.edu	37	22	50752701	50752701	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr22:50752701C>G	uc011aru.1	-	14	1145	c.1073G>C	c.(1072-1074)GGA>GCA	p.G358A	FAM116B_uc011arv.1_Missense_Mutation_p.G358A	NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	family with sequence similarity 116, member B	358											0		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGCAGGTCTCCTACGAGACA	0.637		NA											3	22					0	0	0	0
GHRL	51738	broad.mit.edu	37	3	10331501	10331501	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:10331501A>T	uc010hdf.2	-	3	305	c.170T>A	c.(169-171)CTC>CAC	p.L57H	GHRLOS_uc011atx.1_Intron|GHRLOS_uc011aty.1_Intron|GHRLOS_uc011atz.1_Intron|GHRLOS_uc011aua.1_Intron|GHRLOS_uc010hdl.2_Intron|GHRLOS_uc011aub.1_Intron|GHRLOS_uc010hdm.2_Intron|GHRLOS_uc011auc.1_Intron|GHRLOS_uc011aud.1_Intron|GHRLOS_uc011aue.1_Intron|GHRLOS_uc011auf.1_Intron|GHRLOS_uc011aug.1_Intron|GHRLOS_uc011auh.1_Intron|GHRLOS_uc011aui.1_Intron|GHRLOS_uc011auj.1_Intron|GHRLOS_uc010hdn.2_Intron|GHRL_uc010hda.1_RNA|GHRL_uc010hdb.1_RNA|GHRL_uc003bvj.1_Missense_Mutation_p.L57H|GHRL_uc003bvk.3_RNA|GHRL_uc010hdk.2_Missense_Mutation_p.L44H|GHRL_uc010hdc.2_Intron|GHRL_uc010hdd.2_Intron|GHRL_uc010hde.2_Missense_Mutation_p.L56H|GHRL_uc010hdi.2_Missense_Mutation_p.L57H|GHRL_uc010hdh.2_Missense_Mutation_p.L57H|GHRL_uc010hdj.2_Missense_Mutation_p.L45H|GHRLOS_uc011auk.1_Intron	NM_016362	NP_057446	Q9UBU3	GHRL_HUMAN	ghrelin/obestatin isoform 1 preproprotein	57					actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus	axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule	ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity			ovary(1)	1						TTCCGGGCGGAGCCAGCCTGC	0.587		NA											60	36					0	0	0	0
KLHDC8B	200942	broad.mit.edu	37	3	49210467	49210467	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:49210467G>A	uc003cwh.2	+	2	450	c.265G>A	c.(265-267)GAG>AAG	p.E89K	KLHDC8B_uc003cwi.1_5'Flank	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	89	Kelch 3.					cytoplasm					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGGTGTGGATGAGGTCCAGAG	0.662		NA											13	2					0	0	0	0
OR5K2	402135	broad.mit.edu	37	3	98217323	98217323	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:98217323G>A	uc011bgx.1	+	1	799	c.799G>A	c.(799-801)GAA>AAA	p.E267K		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						TTTGCTTGAAGAAGGAGGTAA	0.328		NA											32	4					0	0	0	0
PCCB	5096	broad.mit.edu	37	3	135974807	135974807	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:135974807A>T	uc003eqy.1	+	2	344	c.293A>T	c.(292-294)GAT>GTT	p.D98V	PCCB_uc003eqz.1_Missense_Mutation_p.D98V|PCCB_uc011bmc.1_Missense_Mutation_p.D98V|PCCB_uc011bmd.1_Missense_Mutation_p.D15V	NM_000532	NP_000523	P05166	PCCB_HUMAN	propionyl Coenzyme A carboxylase, beta	98	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity				0					Biotin(DB00121)|L-Valine(DB00161)	ATGGCTGCTGATAAGAATAAG	0.433		NA											11	55					0	0	0	0
HLTF	6596	broad.mit.edu	37	3	148791054	148791054	+	Silent	SNP	A	A	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:148791054A>G	uc003ewq.1	-	5	803	c.585T>C	c.(583-585)TAT>TAC	p.Y195Y	HLTF_uc003ewr.1_Silent_p.Y195Y|HLTF_uc003ews.1_Silent_p.Y195Y|HLTF_uc010hve.1_Silent_p.Y195Y	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	195					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CTGGCATACTATAGCTTGGTC	0.353		NA											36	14					0	0	0	0
TP63	8626	broad.mit.edu	37	3	189612152	189612152	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:189612152G>T	uc003fry.2	+	14	1993	c.1904G>T	c.(1903-1905)GGT>GTT	p.G635V	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Missense_Mutation_p.G541V|TP63_uc003fsd.2_3'UTR|TP63_uc010hzd.1_Missense_Mutation_p.G456V	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	635	Transactivation inhibition.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GAGACCCGGGGTGAGCGTGTT	0.577		NA							Hay-Wells_syndrome	HNSCC(45;0.13)			15	94					1.57e-10	1.83e-10	1	0
SGCB	6443	broad.mit.edu	37	4	52894901	52894901	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr4:52894901C>T	uc003gzj.2	-	4	676	c.616G>A	c.(616-618)GAA>AAA	p.E206K	SGCB_uc011bzp.1_Missense_Mutation_p.E136K	NM_000232	NP_000223	Q16585	SGCB_HUMAN	sarcoglycan, beta	206	Extracellular (Potential).|Cys-rich.				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma					0			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CATACCCTTTCAGTAGATGCC	0.338		NA											4	39					0	0	0	0
UGT2B4	7363	broad.mit.edu	37	4	70351035	70351035	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr4:70351035C>G	uc003hek.3	-	5	1248	c.1201G>C	c.(1201-1203)GAT>CAT	p.D401H	UGT2B4_uc011cap.1_Missense_Mutation_p.D265H|UGT2B4_uc003hel.3_Intron	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	401					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(2)	2						GCAATGTTATCAGGTTGATCT	0.443		NA											30	54					0	0	0	0
SPEF2	79925	broad.mit.edu	37	5	35705828	35705828	+	Silent	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr5:35705828C>A	uc003jjo.2	+	18	2694	c.2583C>A	c.(2581-2583)ATC>ATA	p.I861I	SPEF2_uc003jjq.3_Silent_p.I856I|SPEF2_uc003jjp.1_Silent_p.I347I	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	861					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGATAAAAATCAATGCTGAAA	0.274		NA											3	23					0.004672	0.0049779	1	0
MTX3	345778	broad.mit.edu	37	5	79284343	79284343	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr5:79284343C>T	uc010jag.2	-	5	473	c.446G>A	c.(445-447)AGG>AAG	p.R149K	MTX3_uc010jah.2_Missense_Mutation_p.R149K|MTX3_uc003kge.3_Missense_Mutation_p.R88K|MTX3_uc003kgf.1_5'Flank	NM_001010891	NP_001010891	Q5HYI7	MTX3_HUMAN	metaxin 3	149					protein targeting to mitochondrion	mitochondrial outer membrane					0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		CAGGAGAATCCTATTCAGTGC	0.458		NA											10	2					0	0	0	0
CHSY3	337876	broad.mit.edu	37	5	129241116	129241116	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr5:129241116C>T	uc003kvd.2	+	1	594	c.594C>T	c.(592-594)TTC>TTT	p.F198F		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	198	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GGGCGCGTTTCATCCCGGGCC	0.721		NA											7	10					0	0	0	0
SEC24A	10802	broad.mit.edu	37	5	134044567	134044567	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr5:134044567C>G	uc003kzs.2	+	18	3004	c.2716C>G	c.(2716-2718)CTC>GTC	p.L906V	SEC24A_uc011cxu.1_Missense_Mutation_p.L670V	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	906					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTGTTGGCTCTCCTTAAACA	0.299		NA											16	2					0	0	0	0
MDC1	9656	broad.mit.edu	37	6	30681733	30681733	+	Missense_Mutation	SNP	G	G	A	rs137893469	by1000genomes	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:30681733G>A	uc003nrg.3	-	3	804	c.364C>T	c.(364-366)CTC>TTC	p.L122F	MDC1_uc003nrf.3_5'Flank|MDC1_uc011dmp.1_Intron|MDC1_uc003nrh.1_Intron|MDC1_uc003nri.2_Missense_Mutation_p.L122F	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	122	Interaction with the MRN complex.|Interaction with CHEK2.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						TCAGCAAAGAGAATCAATTCC	0.552		NA						Other_conserved_DNA_damage_response_genes					35	14					0	0	0	0
MDC1	9656	broad.mit.edu	37	6	30681830	30681830	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:30681830G>A	uc003nrg.3	-	3	707	c.267C>T	c.(265-267)CTC>CTT	p.L89L	MDC1_uc003nrf.3_5'Flank|MDC1_uc011dmp.1_5'UTR|MDC1_uc003nrh.1_5'UTR|MDC1_uc003nri.2_Silent_p.L89L	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	89	Interaction with the MRN complex.|FHA.|Interaction with CHEK2.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						CACAGTCTCGGAGGATAGGTG	0.517		NA						Other_conserved_DNA_damage_response_genes					22	6					0	0	0	0
CCHCR1	54535	broad.mit.edu	37	6	31122387	31122387	+	Silent	SNP	T	T	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:31122387T>A	uc003nsr.3	-	4	543	c.420A>T	c.(418-420)CGA>CGT	p.R140R	CCHCR1_uc011dne.1_Silent_p.R140R|CCHCR1_uc003nsq.3_Silent_p.R193R|CCHCR1_uc003nsp.3_Silent_p.R229R|CCHCR1_uc010jsk.1_Silent_p.R140R	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1 isoform	140	Potential.				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			skin(1)	1						CAGCCTCAGCTCGGCCGGCCT	0.662		NA											179	60					0	0	0	0
TMEM14A	28978	broad.mit.edu	37	6	52550825	52550825	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:52550825G>C	uc003pax.2	+	5	454	c.278G>C	c.(277-279)AGA>ACA	p.R93T		NM_014051	NP_054770	Q9Y6G1	TM14A_HUMAN	transmembrane protein 14A	93	Helical; (Potential).					integral to membrane					0	Lung NSC(77;0.118)					ATGATCCTGAGACTTGTCTTG	0.408		NA											43	15					0	0	0	0
GPRC6A	222545	broad.mit.edu	37	6	117121842	117121842	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:117121842G>T	uc003pxj.1	-	4	1475	c.1453C>A	c.(1453-1455)CAC>AAC	p.H485N	GPRC6A_uc003pxk.1_Missense_Mutation_p.H310N|GPRC6A_uc003pxl.1_Intron	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	485	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ACAGTCATGTGTCCATTGATC	0.383		NA											15	45					3.27e-08	3.76e-08	1	0
NOX3	50508	broad.mit.edu	37	6	155743937	155743938	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:155743937_155743938GG>CT	uc003qqm.2	-	10	1301_1302	c.1198_1199CC>AG	c.(1198-1200)CCA>AGA	p.P400R		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	400	Helical; (Potential).						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			ovary(1)	1		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CACACACACTGGGTAGTGAAAT	0.53		NA											30	44					0	0	0	0
PACRG	135138	broad.mit.edu	37	6	163510334	163510334	+	Silent	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:163510334C>G	uc003qua.2	+	5	731	c.507C>G	c.(505-507)CTC>CTG	p.L169L	PACRG_uc003qub.2_Silent_p.L169L|PACRG_uc003quc.2_Silent_p.L169L	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	parkin co-regulated gene protein isoform 1	169											0		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		GTGTCACTCTCAAGGTCCTCC	0.448		NA											12	26					0	0	0	0
PDE1C	5137	broad.mit.edu	37	7	31848696	31848696	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:31848696T>C	uc003tcm.1	-	16	2309	c.1840A>G	c.(1840-1842)ACA>GCA	p.T614A	PDE1C_uc003tcn.1_Missense_Mutation_p.T614A|PDE1C_uc003tco.1_Missense_Mutation_p.T674A|PDE1C_uc003tcr.2_Missense_Mutation_p.T614A|PDE1C_uc003tcs.2_Missense_Mutation_p.T614A	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	614					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			TTCTTGTCTGTCTTATTTTTA	0.328		NA											9	18					0	0	0	0
LIMK1	3984	broad.mit.edu	37	7	73521402	73521402	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:73521402G>A	uc003uaa.1	+	8	1109	c.944G>A	c.(943-945)CGC>CAC	p.R315H	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.R281H|LIMK1_uc003uac.1_Missense_Mutation_p.R107H	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	315					actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			stomach(2)|ovary(1)	3		Lung NSC(55;0.137)				GCCTCCCAGCGCAAGGACCTG	0.706		NA											11	15					0	0	0	0
MUC17	140453	broad.mit.edu	37	7	100677236	100677236	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:100677236C>T	uc003uxp.1	+	3	2592	c.2539C>T	c.(2539-2541)CCT>TCT	p.P847S	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	847	Extracellular (Potential).|12.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCATCTCCTACACCTGC	0.502		NA											108	197					0	0	0	0
MLL5	55904	broad.mit.edu	37	7	104753117	104753117	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:104753117G>A	uc003vcm.2	+	27	5448	c.4914G>A	c.(4912-4914)CCG>CCA	p.P1638P	MLL5_uc010ljc.2_Silent_p.P1638P|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Silent_p.P372P	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1638	Pro-rich.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						CTCCAGGACCGCACCTTGTAC	0.547		NA											3	53					0	0	0	0
RNF133	168433	broad.mit.edu	37	7	122338572	122338572	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:122338572C>A	uc003vkj.1	-	1	637	c.401G>T	c.(400-402)GGT>GTT	p.G134V	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	ring finger protein 133	134	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			skin(1)	1						GTTGCCAGTACCTGGAACGTT	0.428		NA											19	60					6.94e-10	8.02e-10	1	0
CALU	813	broad.mit.edu	37	7	128407640	128407640	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:128407640C>T	uc003vns.2	+	6	926	c.774C>T	c.(772-774)ATC>ATT	p.I258I	CALU_uc003vnq.2_Silent_p.I258I|CALU_uc003vnr.2_Silent_p.I258I	NM_001130674	NP_001124146	O43852	CALU_HUMAN	calumenin isoform b precursor	258	EF-hand 5.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding				0						AAGACTGGATCCTTCCCTCAG	0.502		NA											18	10					0	0	0	0
ADAM9	8754	broad.mit.edu	37	8	38880809	38880809	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:38880809C>G	uc003xmr.2	+	9	957	c.879C>G	c.(877-879)ATC>ATG	p.I293M	ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9 isoform 1	293	Extracellular (Potential).|Peptidase M12B.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AGTTTCTTATCACACGTCGGA	0.363		NA											7	33					0	0	0	0
ADAM32	203102	broad.mit.edu	37	8	39009051	39009051	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:39009051T>C	uc003xmt.3	+	6	754	c.509T>C	c.(508-510)ATT>ACT	p.I170T	ADAM32_uc011lch.1_Missense_Mutation_p.I177T|ADAM32_uc003xmu.3_Missense_Mutation_p.I170T	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	a disintegrin and metalloprotease domain 32	170					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GATGACAACATTTTTATAAGT	0.254		NA											9	15					0	0	0	0
PRKDC	5591	broad.mit.edu	37	8	48848436	48848436	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:48848436G>C	uc003xqi.2	-	13	1360	c.1303C>G	c.(1303-1305)CTG>GTG	p.L435V	PRKDC_uc003xqj.2_Missense_Mutation_p.L435V|PRKDC_uc011ldh.1_Missense_Mutation_p.L435V	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	435					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGGTGCTCCAGAACTGGAGTA	0.433		NA						NHEJ					7	11					0	0	0	0
TOX	9760	broad.mit.edu	37	8	59852094	59852094	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:59852094C>A	uc003xtw.1	-	3	399	c.178G>T	c.(178-180)GGT>TGT	p.G60C		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	60						nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				AGGCTTGGACCAGGGTAGGAC	0.423		NA											13	26					7.93e-07	8.96e-07	1	0
CSPP1	79848	broad.mit.edu	37	8	68092140	68092140	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:68092140G>T	uc003xxi.2	+	28	3320	c.3289G>T	c.(3289-3291)GAA>TAA	p.E1097*	ARFGEF1_uc003xxl.1_Intron|CSPP1_uc003xxj.2_Nonsense_Mutation_p.E1062*|CSPP1_uc003xxk.2_Nonsense_Mutation_p.E717*|CSPP1_uc010lyw.2_Nonsense_Mutation_p.E157*	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	1097						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CTCATTATTGGAATCTGATAG	0.274		NA											15	33					4.15e-12	4.89e-12	1	0
ZNF706	51123	broad.mit.edu	37	8	102213947	102213947	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:102213947A>T	uc003yka.2	-	3	438	c.23T>A	c.(22-24)ATT>AAT	p.I8N	ZNF706_uc003ykb.2_Missense_Mutation_p.I8N	NM_001042510	NP_001035975	Q9Y5V0	ZN706_HUMAN	HSPC038 protein	8						intracellular	zinc ion binding			ovary(2)	2	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGAGACTGAATTTTCTGCTG	0.393		NA											6	51					0	0	0	0
RIMS2	9699	broad.mit.edu	37	8	104928744	104928744	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:104928744T>C	uc003yls.2	+	6	1590	c.1349T>C	c.(1348-1350)CTT>CCT	p.L450P	RIMS2_uc003ylp.2_Missense_Mutation_p.L672P|RIMS2_uc003ylw.2_Missense_Mutation_p.L480P|RIMS2_uc003ylq.2_Missense_Mutation_p.L480P|RIMS2_uc003ylr.2_Missense_Mutation_p.L527P|RIMS2_uc003ylt.2_Missense_Mutation_p.L73P|RIMS2_uc003ylu.1_Missense_Mutation_p.L63P|RIMS2_uc003ylv.1_Missense_Mutation_p.L63P	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	750	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAAGTAGAACTTGTAGTTTCA	0.348		NA								HNSCC(12;0.0054)			40	19					0	0	0	0
RIMS2	9699	broad.mit.edu	37	8	105001535	105001535	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:105001535G>A	uc003yls.2	+	15	2505	c.2264G>A	c.(2263-2265)CGG>CAG	p.R755Q	RIMS2_uc003ylp.2_Missense_Mutation_p.R977Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R769Q|RIMS2_uc003ylq.2_Missense_Mutation_p.R769Q|RIMS2_uc003ylr.2_Missense_Mutation_p.R816Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1039					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGTTTTAGTCGGAATGTGGAA	0.383		NA								HNSCC(12;0.0054)			18	84					0	0	0	0
EIF3H	8667	broad.mit.edu	37	8	117668121	117668121	+	Silent	SNP	T	T	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:117668121T>C	uc003yoa.2	-	5	707	c.681A>G	c.(679-681)AAA>AAG	p.K227K	EIF3H_uc003yob.2_Silent_p.K241K	NM_003756	NP_003747	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3,	227					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(3)	3	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					GCAATTCATGTTTATCTGCAA	0.378		NA											29	78					0	0	0	0
DERL1	79139	broad.mit.edu	37	8	124042859	124042859	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:124042859G>A	uc003ypl.2	-	2	537	c.251C>T	c.(250-252)ACG>ATG	p.T84M	DERL1_uc003ypm.2_Missense_Mutation_p.T84M|DERL1_uc011lif.1_Intron|DERL1_uc003ypn.2_Missense_Mutation_p.T84M	NM_024295	NP_077271	Q9BUN8	DERL1_HUMAN	Der1-like domain family, member 1 isoform a	84	Cytoplasmic (Potential).				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity				0	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TTCAAGTCGCGTAGAATACTG	0.373		NA											7	49					0	0	0	0
KIAA0196	9897	broad.mit.edu	37	8	126062854	126062854	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:126062854G>A	uc003yrt.2	-	18	2480	c.2151C>T	c.(2149-2151)CGC>CGT	p.R717R	KIAA0196_uc011lir.1_Silent_p.R569R|KIAA0196_uc003yru.1_Silent_p.R291R	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	717					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAAAGGCAACGCGCTTCACAA	0.483		NA											10	58					0	0	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:21971111G>A	uc003zpk.2	-	2	459	c.247C>T	c.(247-249)CAC>TAC	p.H83Y	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.A138V	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	83	ANK 3.		H -> N (in a lung tumor).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.H83Y(28)|p.?(13)|p.H83fs*2(2)|p.H83P(2)|p.H83N(1)|p.V82fs*62(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.A138V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.H83R(1)|p.H83Q(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(JHH2_LIVER)|H83Y(HS944T_SKIN)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			31	7					0	0	0	0
FAM75A6	389730	broad.mit.edu	37	9	43626759	43626759	+	Missense_Mutation	SNP	G	G	A	rs145894188	by1000genomes	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:43626759G>A	uc011lrb.1	-	4	1957	c.1928C>T	c.(1927-1929)ACG>ATG	p.T643M		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	hypothetical protein LOC389730	643						integral to membrane					0						ACCTGTGGACGTGGAGGACTG	0.572		NA											12	14					0	0	0	0
TMEM2	23670	broad.mit.edu	37	9	74327069	74327069	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:74327069C>A	uc011lsa.1	-	16	3239	c.2699G>T	c.(2698-2700)GGC>GTC	p.G900V	TMEM2_uc010mos.2_Missense_Mutation_p.G837V|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	900						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CATGAGGAAGCCAATTGCACT	0.428		NA											54	9					7.77e-23	9.37e-23	1	0
TLE4	7091	broad.mit.edu	37	9	82333859	82333859	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:82333859G>A	uc004ald.2	+	16	2487	c.1638G>A	c.(1636-1638)AAG>AAA	p.K546K	TLE4_uc004alc.2_Silent_p.K521K|TLE4_uc010mpr.2_Silent_p.K400K|TLE4_uc004ale.2_Silent_p.K158K|TLE4_uc011lsq.1_Silent_p.K489K|TLE4_uc010mps.2_Silent_p.K445K|TLE4_uc004alf.2_Silent_p.K460K	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment								p.R546C(1)		lung(2)|ovary(1)|breast(1)|skin(1)	5						CAGGCAATAAGAGTCCTGTCT	0.542		NA											9	55					0	0	0	0
SYK	6850	broad.mit.edu	37	9	93641137	93641137	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:93641137C>T	uc004aqz.2	+	11	1688	c.1483C>T	c.(1483-1485)CTG>TTG	p.L495L	SYK_uc004ara.2_Silent_p.L472L|SYK_uc004arb.2_Silent_p.L472L|SYK_uc004arc.2_Silent_p.L495L|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	495	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						GCACAGAGATCTGGCTGCAAG	0.433		NA	T	ETV6|ITK	MDS|peripheral T-cell lymphoma								16	64					0	0	0	0
ZNF510	22869	broad.mit.edu	37	9	99521412	99521412	+	Missense_Mutation	SNP	G	G	A	rs141866339	by1000genomes	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:99521412G>A	uc004awn.1	-	6	1889	c.1700C>T	c.(1699-1701)ACG>ATG	p.T567M	ZNF510_uc004awo.1_Missense_Mutation_p.T567M	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				TTTCTCTCCCGTGTGAGTTTT	0.418		NA											33	42					0	0	0	0
TBC1D2	55357	broad.mit.edu	37	9	100971314	100971314	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:100971314C>T	uc011lvb.1	-	9	1966	c.1786G>A	c.(1786-1788)GAG>AAG	p.E596K	TBC1D2_uc004ayp.2_Missense_Mutation_p.E136K|TBC1D2_uc004ayq.2_Missense_Mutation_p.E596K|TBC1D2_uc004ayr.2_Missense_Mutation_p.E378K|TBC1D2_uc004ayo.3_Missense_Mutation_p.E596K	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	596						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			ovary(3)	3		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TCCACAGCCTCGAGGCCCAGC	0.647		NA											11	212					0	0	0	0
COL15A1	1306	broad.mit.edu	37	9	101788189	101788189	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:101788189C>G	uc004azb.1	+	16	2190	c.1984C>G	c.(1984-1986)CCT>GCT	p.P662A		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	662	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				TCCCCAGGGCCCTGAGGGACA	0.577		NA											10	3					0	0	0	0
SNX30	401548	broad.mit.edu	37	9	115598539	115598539	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:115598539A>G	uc004bgj.3	+	5	812	c.664A>G	c.(664-666)ATG>GTG	p.M222V	SNX30_uc004bgi.3_5'Flank	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	222					cell communication|protein transport	cytoplasm	phosphatidylinositol binding				0						GCTGACCAGAATGGGCGAGTC	0.507		NA											100	20					0	0	0	0
ALAD	210	broad.mit.edu	37	9	116150610	116150610	+	Silent	SNP	C	C	T	rs35581515		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:116150610C>T	uc011lxf.1	-	12	1165	c.963G>A	c.(961-963)CCG>CCA	p.P321P	ALAD_uc011lxe.1_Silent_p.P304P|ALAD_uc004bhl.3_Silent_p.P350P	NM_000031	NP_000022	P13716	HEM2_HUMAN	delta-aminolevulinic acid dehydratase	321					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding				0					Aminolevulinic acid(DB00855)	GCAGCAGCTGCGGTGTGTAGT	0.532		NA											4	115					0	0	0	0
DENND1A	57706	broad.mit.edu	37	9	126319866	126319866	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:126319866C>A	uc004bnz.1	-	13	1209	c.976G>T	c.(976-978)GCT>TCT	p.A326S	DENND1A_uc011lzl.1_Intron|DENND1A_uc004bny.1_Missense_Mutation_p.A143S|DENND1A_uc011lzm.1_Missense_Mutation_p.A294S|DENND1A_uc004boa.1_Missense_Mutation_p.A326S|DENND1A_uc004bob.1_Missense_Mutation_p.A296S|DENND1A_uc004boc.2_Missense_Mutation_p.A294S	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	326	dDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2						ATTTTCAGAGCGTTTCGGTAG	0.547		NA											11	20					4.69e-08	5.36e-08	1	0
ABO	28	broad.mit.edu	37	9	136132863	136132863	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:136132863C>T	uc004cda.1	-	7	332	c.307G>A	c.(307-309)GAC>AAC	p.D103N	ABO_uc010naf.1_5'UTR|ABO_uc011mcz.1_Intron|ABO_uc010nag.1_5'UTR	NM_020469	NP_065202	P16442	BGAT_HUMAN	ABO blood group (alpha	103	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding				0				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TTGAGGATGTCGATGTTGAAT	0.552		NA											3	45					0	0	0	0
C9orf172	389813	broad.mit.edu	37	9	139741083	139741083	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:139741083C>G	uc011meh.1	+	1	2217	c.2217C>G	c.(2215-2217)ATC>ATG	p.I739M	PHPT1_uc004cjp.2_5'Flank|PHPT1_uc011mei.1_5'Flank|PHPT1_uc004cjq.3_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	739											0						TCTCGCGCATCGCGCGTGTCG	0.706		NA											3	13					0	0	0	0
WNK3	65267	broad.mit.edu	37	X	54228471	54228471	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chrX:54228471G>T	uc004dtd.1	-	22	5294	c.4855C>A	c.(4855-4857)CAA>AAA	p.Q1619K	WNK3_uc004dtc.1_Missense_Mutation_p.Q1676K	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1619					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						TGTTGACTTTGTTTAAGTTGG	0.338		NA											6	13					5.18e-06	5.78e-06	1	0
MORF4L2	9643	broad.mit.edu	37	X	102931249	102931249	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chrX:102931249C>G	uc004ekw.2	-	4	1939	c.707G>C	c.(706-708)GGA>GCA	p.G236A	MORF4L2_uc004ela.2_Missense_Mutation_p.G236A|MORF4L2_uc004ekx.2_Missense_Mutation_p.G236A|MORF4L2_uc004elb.2_Missense_Mutation_p.G236A|MORF4L2_uc004eky.2_Missense_Mutation_p.G236A|MORF4L2_uc010nos.2_Missense_Mutation_p.G236A|MORF4L2_uc004ekz.2_Missense_Mutation_p.G236A|MORF4L2_uc011mry.1_Missense_Mutation_p.G236A|MORF4L2_uc011mrz.1_Missense_Mutation_p.G236A|MORF4L2_uc004elc.2_Missense_Mutation_p.G236A|MORF4L2_uc004elf.2_Missense_Mutation_p.G236A|MORF4L2_uc004ele.2_Missense_Mutation_p.G236A|MORF4L2_uc011msa.1_Missense_Mutation_p.G236A|MORF4L2_uc011msb.1_Missense_Mutation_p.G236A|MORF4L2_uc011msc.1_Missense_Mutation_p.G236A|MORF4L2_uc011msd.1_Missense_Mutation_p.G236A|MORF4L2_uc004eld.2_Missense_Mutation_p.G236A	NM_012286	NP_036418	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	236					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding				0						CAACATTGCTCCAATTCTTAC	0.443		NA											4	33					0	0	0	0
DOCK11	139818	broad.mit.edu	37	X	117773475	117773475	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chrX:117773475C>T	uc004eqp.2	+	38	4142	c.4079C>T	c.(4078-4080)TCA>TTA	p.S1360L	DOCK11_uc004eqq.2_Missense_Mutation_p.S1139L	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1360					blood coagulation	cytosol	GTP binding			ovary(3)	3						CGAAACAGATCAGGAGTAATG	0.428		NA											13	15					0	0	0	0
ZNF365	22891	broad.mit.edu	37	10	64425946	64425946	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:64425946delC	uc001jmd.1	+	6	874	c.540delC	c.(538-540)CTCfs	p.L180fs	ZNF365_uc001jmc.2_Frame_Shift_Del_p.L426fs|ZNF365_uc001jme.1_RNA|ZNF365_uc001jmf.1_RNA|ZNF365_uc009xpg.1_Intron	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform D	180										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					TAGGACAACTCCAAAATTGTG	0.408		NA											7	22	---	---	---	---	NA	NA	NA	NA
SMC3	9126	broad.mit.edu	37	10	112343699	112343701	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:112343699_112343701delAAG	uc001kze.2	+	12	1196_1198	c.1070_1072delAAG	c.(1069-1074)AAAGAA>AAA	p.E359del		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	359					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GTGAAAGAGAAAGAAGAACGAGG	0.36		NA											8	25	---	---	---	---	NA	NA	NA	NA
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs28513925	by1000genomes	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:132547093_132547094insCAG	uc001ujn.2	+	46	8216_8217	c.8181_8182insCAG	c.(8179-8184)insCAG	p.2748_2749insQ	EP400_uc001ujl.2_In_Frame_Ins_p.2747_2748insQ|EP400_uc001ujm.2_In_Frame_Ins_p.2667_2668insQ|EP400_uc001ujp.2_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2784_2785	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.292		NA											7	34	---	---	---	---	NA	NA	NA	NA
NRIP1	8204	broad.mit.edu	37	21	16338750	16338750	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr21:16338750delA	uc002yjx.2	-	4	2362	c.1764delT	c.(1762-1764)TCTfs	p.S588fs		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	588	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTAGCTTTTCAGACTGAGTAC	0.438		NA											101	76	---	---	---	---	NA	NA	NA	NA
TNS3	64759	broad.mit.edu	37	7	47384376	47384388	+	Frame_Shift_Del	DEL	GCTGGGCTGCTCA	GCTGGGCTGCTCA	-			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:47384376_47384388delGCTGGGCTGCTCA	uc003tnv.2	-	20	2982_2994	c.2615_2627delTGAGCAGCCCAGC	c.(2614-2628)CTGAGCAGCCCAGCCfs	p.L872fs	TNS3_uc003tnw.2_Frame_Shift_Del_p.L872fs	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	872_876						focal adhesion	protein binding			ovary(4)	4						GTGCTGACTGGCTGGGCTGCTCAGCGGGGGCTC	0.61		NA											9	75	---	---	---	---	NA	NA	NA	NA
SMARCA2	6595	broad.mit.edu	37	9	2039777	2039779	+	In_Frame_Del	DEL	CAG	CAG	-	rs113070757	byFrequency	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:2039777_2039779delCAG	uc003zhc.2	+	4	766_768	c.667_669delCAG	c.(667-669)CAGdel	p.Q238del	SMARCA2_uc003zhd.2_In_Frame_Del_p.Q238del|SMARCA2_uc010mha.2_In_Frame_Del_p.Q229del	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	238	Poly-Gln.			Missing (in Ref. 1; CAA51407).	chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gcagcagcaacagcagcagcagc	0.271		NA											10	31	---	---	---	---	NA	NA	NA	NA
SMC5	23137	broad.mit.edu	37	9	72933828	72933829	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:72933828_72933829insA	uc004ahr.2	+	15	2216_2217	c.2099_2100insA	c.(2098-2100)AGAfs	p.R700fs	uc004ahs.1_5'Flank	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	700	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						CTTCTTGAGAGAAAAACCAAGA	0.406		NA											8	10	---	---	---	---	NA	NA	NA	NA